WDR62 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- WDR62 (HGNC:24502) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- WD repeat domain 62
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C19orf14, MCPH2
- Alias symbols
- DKFZP434J046, FLJ33298
- %HI
- 51.08(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.81(Read more about gnomAD LOEUF score)
- Cytoband
- 19q13.12
- Genomic Coordinates
-
GRCh37/hg19: chr19:36545799-36596010 NCBI Ensembl UCSC GRCh38/hg38: chr19:36054897-36111145 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001083961.2 ENST00000401500.7 (Read more about MANE Select)
- Function
- Required for cerebral cortical development. Plays a role in neuronal proliferation and migration (PubMed:20890278, PubMed:20729831). Plays a role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806). {ECO:0000269|PubMed:20729831, ECO:0000269|PubMed:20890278, ECO:0000269|PubMed:26297806}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-26197
ClinGen Curation ID:
CCID:008107
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- microcephaly 2, primary, autosomal recessive, with or without cortical malformations Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000019.9)
(NC_000019.10)