Deafness_Isolated
Gene: ANKRD24EnsemblGeneIds (GRCh38): ENSG00000089847
EnsemblGeneIds (GRCh37): ENSG00000089847
ANKRD24 is in 2 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
1 consanguineous family with postlingual, moderate-to-severe autosomal recessive SNHL
2 affecteds homozygous for c.1934_1937del; (p.Thr645Lysfs*52), which is NMD-predicted
Sources: LiteratureCreated: 6 Nov 2024, 11:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
sensorineural hearing loss disorder MONDO:0020678, ANKRD24-related
Publications
- PMID: 39434538
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- sensorineural hearing loss disorder MONDO:0020678, ANKRD24-related
- Clinvar variants
- Variants in ANKRD24
- Penetrance
- None
- Publications
-
- PMID: 39434538
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: ankrd24 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: ANKRD24 was added gene: ANKRD24 was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: ANKRD24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANKRD24 were set to PMID: 39434538 Phenotypes for gene: ANKRD24 were set to sensorineural hearing loss disorder MONDO:0020678, ANKRD24-related Review for gene: ANKRD24 was set to RED gene: ANKRD24 was marked as current diagnostic