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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)