chrom | chromStart | chromEnd | name | score | strand | thickStart | thickEnd | itemRgb | blockCount | blockSizes | blockStarts | geneSymbol | biotype | hgncID | geneName | omimGene | ensemblGenes | entityType | entityName | confidenceLevel | penetrance | modeOfPanthogenicity | publications | evidence | phenotypes | modeOfInheritance | tags | panelID | panelName | diseaseGroup | diseaseSubgroup | status | panelVersion | versionCreated | relevantDisorders | mouseOverField |
chr1 | 167430640 | 167518610 | CD247 (COVID-19 research) | 0 | . | 167430640 | 167518610 | 0,255,0 | 1 | 87970 | 0 | CD247 | Protein Coding | 1677 | Cd247 Molecule | 186780 | ENSG00000198821 | Gene | CD247 | 3 | | | PMID26690594, PMID17170122, PMID16672702, PMID25688246, PMID27555457, https://doi.org/10.14785/lpsn-2014-0012 | Expert Review Green IUIS Classification February 2018 SCID v1.6 GOSH PID v.8.0 GRID V2.0 Victorian Clinical Genetics Services ES ... | ?Immunodeficiency 25 T-B+ severe combined immunodeficiency due to CD3zeta Immunodeficiency 25, 610163 Nl NK, no g/d T cells Atyp ... | BIALLELIC, autosomal or pseudoautosomal | | 111 | COVID-19 research | Viral research | | public | 1.141 | 2024-01-04T14:08:43.065350Z | Viral susceptibility | Gene: CD247; Panel: COVID-19 research; MOI: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: ?Immunodeficiency 25 T-B+ sever ... |
chr1 | 167430640 | 167518610 | CD247 (Primary immunodeficiency or monogenic inflammatory bowel disease) | 0 | . | 167430640 | 167518610 | 0,255,0 | 1 | 87970 | 0 | CD247 | Protein Coding | 1677 | Cd247 Molecule | 186780 | ENSG00000198821 | Gene | CD247 | 3 | | | PMID26690594, PMID26542031, PMID17170122, PMID27555457, PMID25688246, PMID16672702, https://doi.org/10.14785/lpsn-2014-0012 | Expert Review Green Other IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2. ... | T-B+ severe combined immunodeficiency due to CD3zeta ?Immunodeficiency 25 T-B+ SCID Immunodeficiency 25, 610163 Atypical Severe ... | BIALLELIC, autosomal or pseudoautosomal | | 398 | Primary immunodeficiency or monogenic inflammatory bowel disease | | | public | 4.199 | 2024-04-16T14:37:43.360609Z | Primary immunodeficiency disorders A- or hypo-gammaglobulinaemia Congenital neutropaenia Agranulocytosis Combined B and T cell d ... | Gene: CD247; Panel: Primary immunodeficiency or monogenic inflammatory bowel disease; MOI: BIALLELIC, autosomal or pseudoautosom ... |
chr1 | 167430640 | 167518610 | CD247 (Severe Paediatric Disorders) | 0 | . | 167430640 | 167518610 | 0,255,0 | 1 | 87970 | 0 | CD247 | Protein Coding | 1677 | Cd247 Molecule | 186780 | ENSG00000198821 | Gene | CD247 | 3 | | | PMID30847515 | Next Generation Children Project Expert Review Green Expert list | Immunodeficiency 25, 610163 | BIALLELIC, autosomal or pseudoautosomal | | 921 | Severe Paediatric Disorders | | | public | 1.184 | 2024-04-09T15:06:23.215649Z | | Gene: CD247; Panel: Severe Paediatric Disorders; MOI: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Immunodeficiency 25, ... |
chr1 | 167630093 | 167706249 | RCSD1 (Non-syndromic familial congenital anorectal malformations) | 0 | . | 167630093 | 167706249 | 255,0,0 | 1 | 76156 | 0 | RCSD1 | Protein Coding | 28310 | Rcsd Domain Containing 1 | 610579 | ENSG00000198771 | Gene | RCSD1 | 1 | | | PMID23936318 | Literature | anorectal malformation | | | 253 | Non-syndromic familial congenital anorectal malformations | Gastroenterological disorders | Gastrointestinal disorders | public | 1.9 | 2024-03-26T14:53:37.550551Z | | Gene: RCSD1; Panel: Non-syndromic familial congenital anorectal malformations; MOI: ; Phenotypes: anorectal malformation; Confid ... |
chr1 | 167809388 | 167914215 | ADCY10 (Nephrocalcinosis or nephrolithiasis) | 0 | . | 167809388 | 167914215 | 255,0,0 | 1 | 104827 | 0 | ADCY10 | Protein Coding | 21285 | Adenylate Cyclase 10 | 605205 | ENSG00000143199 | Gene | ADCY10 | 1 | Complete | | PMID: 24907563 (review) | Expert Review Red Expert | | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | | 149 | Nephrocalcinosis or nephrolithiasis | Renal and urinary tract disorders | Disorders of function | public | 4.13 | 2024-02-13T16:40:27.008021Z | Renal tract calcification (or Nephrolithiasis or nephrocalcinosis) Renal tract calcification (or Nephrolithiasis/nephrocalcinosi ... | Gene: ADCY10; Panel: Nephrocalcinosis or nephrolithiasis; MOI: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unkno ... |
chr1 | 167916729 | 167937040 | MPC2 (Fetal anomalies) | 0 | . | 167916729 | 167937040 | 255,191,0 | 1 | 20311 | 0 | MPC2 | Protein Coding | 24515 | Mitochondrial Pyruvate Carrier 2 | 614737 | ENSG00000143158 | Gene | MPC2 | 2 | | | PMID36417180 | Expert Review Amber | Mitochondrial pyruvate carrier deficiency | BIALLELIC, autosomal or pseudoautosomal | | 478 | Fetal anomalies | | | public | 3.154 | 2024-04-16T14:23:17.772921Z | R21 Fetal anomalies with a likely genetic cause Fetal anomalies with a likely genetic cause - non urgent R412 | Gene: MPC2; Panel: Fetal anomalies; MOI: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Mitochondrial pyruvate carrier def ... |
chr1 | 167916729 | 167937040 | MPC2 (DDG2P) | 0 | . | 167916729 | 167937040 | 255,0,0 | 1 | 20311 | 0 | MPC2 | Protein Coding | 24515 | Mitochondrial Pyruvate Carrier 2 | 614737 | ENSG00000143158 | Gene | MPC2 | 1 | | Other | PMID36417180 | Expert Review Red DD-Gene2Phenotype | MPC2-related metabolic disorder | BIALLELIC, autosomal or pseudoautosomal | | 484 | DDG2P | | | public | 3.87 | 2024-04-09T15:05:58.092503Z | | Gene: MPC2; Panel: DDG2P; MOI: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: MPC2-related metabolic disorder; Confidence: ... |
chr1 | 168079543 | 168137667 | GPR161 (IUGR and IGF abnormalities) | 0 | . | 168079543 | 168137667 | 255,0,0 | 1 | 58124 | 0 | GPR161 | Protein Coding | 23694 | G Protein-Coupled Receptor 161 | 612250 | ENSG00000143147 | Gene | GPR161 | 1 | Complete | | PMID25322266 | Expert Review Red Literature Expert Review | Short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasa ... | BIALLELIC, autosomal or pseudoautosomal | | 131 | IUGR and IGF abnormalities | Endocrine disorders | Growth hormone disorders | public | 1.59 | 2024-04-09T15:06:23.972112Z | | Gene: GPR161; Panel: IUGR and IGF abnormalities; MOI: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Short stature with hy ... |
chr1 | 168079543 | 168137667 | GPR161 (Childhood solid tumours) | 0 | . | 168079543 | 168137667 | 0,255,0 | 1 | 58124 | 0 | GPR161 | Protein Coding | 23694 | G Protein-Coupled Receptor 161 | 612250 | ENSG00000143147 | Gene | GPR161 | 3 | | | PMID29386106, PMID31609649 | Expert Review Green Literature | {Medulloblastoma predisposition syndrome}, OMIM:155255 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | | 243 | Childhood solid tumours | Tumour syndromes | Childhood Tumours | public | 4.18 | 2024-04-11T12:52:20.613240Z | Paediatric congenital malformation-dysmorphism-tumour syndrome Paediatric congenital malformation-dysmorphism-tumour syndromes P ... | Gene: GPR161; Panel: Childhood solid tumours; MOI: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotyp ... |
chr1 | 168079543 | 168137667 | GPR161 (Pituitary hormone deficiency) | 0 | . | 168079543 | 168137667 | 255,0,0 | 1 | 58124 | 0 | GPR161 | Protein Coding | 23694 | G Protein-Coupled Receptor 161 | 612250 | ENSG00000143147 | Gene | GPR161 | 1 | | | PMID25322266 | Literature | pituitary stalk interruption syndrome, MONDO:0019828 | BIALLELIC, autosomal or pseudoautosomal | | 483 | Pituitary hormone deficiency | | | public | 3.11 | 2024-03-20T12:08:48.832600Z | R159 | Gene: GPR161; Panel: Pituitary hormone deficiency; MOI: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: pituitary stalk int ... |