PCARE |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- PCARE (HGNC:34383) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- photoreceptor cilium actin regulator
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C2orf71
- Alias symbols
- FLJ34931, RP54
- %HI
- 84.18(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.11(Read more about gnomAD LOEUF score)
- Cytoband
- 2p23.2
- Genomic Coordinates
-
GRCh37/hg19: chr2:29284561-29297389 NCBI Ensembl UCSC GRCh38/hg38: chr2:29061695-29074523 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001029883.3 ENST00000331664.6 (Read more about MANE Select)
- Function
- Plays an essential role for normal photoreceptor cell maintenance and vision. {ECO:0000269|PubMed:20398886}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-29114
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
09/25/2014
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- retinitis pigmentosa 54 Monarch
HI Evidence Comments:
Mutations of C2orf71 are associated with autosomal recessive retinitis pigmentosa.
Of note, Khatep et al. (2014) described multiple family members who carry one copy (heterozygous) of a C2orf71 nonsense mutation along with two copies (homozygous) of nonsense CEP250 mutations, who presented with an atypical form of Usher syndrome with relatively mild retinitis pigmentosa (RP).
RP has been shown to be a recessive condition as well as a multigenic trait where the additive effect of the genotypes at multiple loci can cause RP. However, in this family the RP phenotype was only seen in the family members homozygous for CEP250 and heterozygous for C2orf761 and not seen in the one family member heterozygous for both C2orf71 and CEP250. (PMID: 24780881)
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)