WDR35
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
WDR35 (HGNC:29250) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
WD repeat domain 35
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
MGC33196, KIAA1336, IFT121, IFTA1, FAP118, CFAP118
%HI
44.05(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.78(Read more about gnomAD LOEUF score)
Cytoband
2p24.1
Genomic Coordinates
GRCh37/hg19: chr2:20110024-20189866 NCBI Ensembl UCSC
GRCh38/hg38: chr2:19910263-19990105 NCBI Ensembl UCSC
MANE Select Transcript
NM_020779.4 ENST00000281405.9 (Read more about MANE Select)
MANE Plus Clinical Transcript(s)
NM_001006657.2 ENST00000345530.8 (Read more about MANE Plus Clinical)
Function
As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis and ciliary protein trafficking (PubMed:21473986, PubMed:28400947, PubMed:29220510). May promote CASP3 activation and TNF-stimulated apoptosis. {ECO:0000269|PubMed:20193664, ECO:0000269|PubMed:21473986, ECO:0000269|PubMed:28400947, ECO:0000269|PubMed:29220510}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-18345
ClinGen Curation ID:
CCID:008105
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
06/19/2013

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • short-rib thoracic dysplasia 7 with or without polydactyly Monarch
HI Evidence Comments:
Biallelic variants have been reported in individuals with cranioectodermal dysplasia 2 and short-rib thoracic dysplasia 7 with or without polydactyly per OMIM.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)