CEP78 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CEP78 (HGNC:25740) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- centrosomal protein 78
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C9orf81
- Alias symbols
- FLJ12643
- %HI
- 49.15(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.53(Read more about gnomAD LOEUF score)
- Cytoband
- 9q21.2
- Genomic Coordinates
-
GRCh37/hg19: chr9:80850991-80894606 NCBI Ensembl UCSC GRCh38/hg38: chr9:78236075-78279690 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001330691.3 ENST00000643273.2 (Read more about MANE Select)
- Function
- May be required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles (PubMed:27246242). May play a role in cilium biogenesis (PubMed:27588451). {ECO:0000269|PubMed:27246242, ECO:0000269|PubMed:27588451}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-27354
ClinGen Curation ID:
CCID:006840
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
10/23/2017
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- cone-rod dystrophy and hearing loss 1 Monarch
HI Evidence Comments:
PMID 27588452: Namburi P, (2016): Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
PMID 27627988: Fu Q (2017): WES and WGS testing of patients from two independent families with juvenile/adult-onset cone-rod dystrophy and sensorineural hearing loss identified two homozygous rare variants that affect splicing of CEP78.
PMID 27588451: Nikopoulos K (2016): Exome analysis of a cohort of individuals with cone-rod degeneration (CRD) identified biallelic mutations in CEP78 in three patients from two families: one from Greece and another from Sweden. The Greek patient was homozygous for the c.499+1G>T (IVS3+1G>T) mutation. The Swedish patients were compound heterozygotes for c.499+5G>A (IVS3+5G>A) and c.633delC (p.Trp212Glyfs(∗)18). In addition to CRD, these individuals had hearing deficits.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000009.11)
(NC_000009.12)