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Monogenic hearing loss

Region: ISCA-46297-Loss

16p12.2 recurrent region (distal)(includes OTOA) Loss

Green List (high evidence)
Chromosome: 16
GRCh38 Position: 21558792-21729102
Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Homozygous distal 16p12.2 deletions, encompassing the OTOA gene, are associated with autosomal recessive deafness-22 (PMID: 19888295; 31204719; 39916398)
Created: 22 Apr 2026, 4:25 p.m. | Last Modified: 22 Apr 2026, 4:25 p.m.
Panel Version: 5.70
New green region added based on ClinGen Region Curation Results (version on 05 Aug 2022) following NHS Genomic Medicine Service approval. Additional comments from Genomics England clinical team: 'Biallelic MOI specific to OTOA phenotype'
Created: 2 Feb 2023, 3:18 p.m. | Last Modified: 2 Feb 2023, 3:18 p.m.
Panel Version: 3.8
Created: 2 Feb 2023, 3:18 p.m.
Last Modified: 2 Feb 2023, 3:18 p.m.
Panel version: 5.70

Details

ISCA ID
ISCA-46297-Loss
ISCA Region Name
16p12.2 recurrent region (distal)(includes OTOA) Loss
Chromosome
16
GRCh38 Coordinates
21558792-21729102
Haploinsufficiency Score
Gene associated with autosomal recessive phenotype
Triplosensitivity Score
Required percent of overlap
60%
Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Autosomal recessive deafness-22
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

22 Apr 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for Region: ISCA-46297-Loss were changed from to Autosomal recessive deafness-22

22 Apr 2026, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for Region: ISCA-46297-Loss were set to 31204719; 19888295; 20301607; 25719193; 30836598

2 Feb 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Arina Puzriakova (Genomics England Curator)

Region: ISCA-46297-Loss was added Region: ISCA-46297-Loss was added to Monogenic hearing loss. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-46297-Loss was set to BIALLELIC, autosomal or pseudoautosomal Publications for Region: ISCA-46297-Loss were set to 31204719; 19888295; 20301607; 25719193; 30836598