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Mendeliome

Gene: ANKRD24

Red List (low evidence)

ANKRD24 (ankyrin repeat domain 24)
EnsemblGeneIds (GRCh38): ENSG00000089847
EnsemblGeneIds (GRCh37): ENSG00000089847
ANKRD24 is in 2 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

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: Literature
Created: 6 Nov 2024, 11:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
sensorineural hearing loss disorder MONDO:0020678, ANKRD24-related

Publications

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
Panels with this gene

History Filter Activity

6 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: ankrd24 has been classified as Red List (Low Evidence).

6 Nov 2024, Gel status: 1

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 Mendeliome. 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