Deafness_Isolated
Gene: CENPP
CENPP (centromere protein P)
EnsemblGeneIds (GRCh38): ENSG00000188312
EnsemblGeneIds (GRCh37): ENSG00000188312
OMIM: 611505, Gene2Phenotype
CENPP is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000188312
EnsemblGeneIds (GRCh37): ENSG00000188312
OMIM: 611505, Gene2Phenotype
CENPP is in 2 panels
1 review
Seb Lunke (Victorian Clinical Genetics Services)
Single family with dominant SNHL segregated through 5 family members. Truncating variant in NM_001012267.3(CENPP):c.849T>A (p.Cys283Ter). Note: misannotated as nonsense variant in paper.
Sources: LiteratureCreated: 6 Oct 2022, 3:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
autosomal dominant nonsyndromic hearing loss; MONDO:0019587
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- autosomal dominant nonsyndromic hearing loss
- MONDO:0019587
- OMIM
- 611505
- Clinvar variants
- Variants in CENPP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
6 Oct 2022, Gel status: 1
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: cenpp has been classified as Red List (Low Evidence).
6 Oct 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: CENPP was added gene: CENPP was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: CENPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CENPP were set to 36071244 Phenotypes for gene: CENPP were set to autosomal dominant nonsyndromic hearing loss; MONDO:0019587 Review for gene: CENPP was set to RED