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Monogenic hearing loss v2.223 ATP6V1B2 Eleanor Williams Tag for-review was removed from gene: ATP6V1B2.
Monogenic hearing loss v2.223 ATP6V1B2 Eleanor Williams Phenotypes for gene: ATP6V1B2 were changed from Deafness, congenital, with onychodystrophy, autosomal dominant, 124480; Zimmermann-Laband syndrome 2, 616455 to Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480; Zimmermann-Laband syndrome 2, OMIM:616455
Monogenic hearing loss v2.221 ATP6V1B2 Eleanor Williams commented on gene: ATP6V1B2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.220 ATP6V1B2 Eleanor Williams Source Expert Review Green was added to ATP6V1B2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.70 ATP6V1B2 Eleanor Williams Phenotypes for gene: ATP6V1B2 were changed from to Deafness, congenital, with onychodystrophy, autosomal dominant, 124480; Zimmermann-Laband syndrome 2, 616455
Monogenic hearing loss v2.69 ATP6V1B2 Eleanor Williams Publications for gene: ATP6V1B2 were set to
Monogenic hearing loss v2.68 ATP6V1B2 Eleanor Williams Tag for-review tag was added to gene: ATP6V1B2.
Monogenic hearing loss v2.68 ATP6V1B2 Eleanor Williams changed review comment from: Comment on list classification: The rating of this gene should be reviewed after consultation with the Genomics England clinical team and at the next GMS review.; to: Comment on list classification: Sufficient cases with Deafness, congenital, with onychodystrophy to rate green. This gene should be reviewed at the next GMS update.
Monogenic hearing loss v2.68 ATP6V1B2 Eleanor Williams changed review comment from: Adding gene at request of Alistair Pagnamenta (University of Oxford).

PMID: 32873933 Beauregard-Lacroix et al 2020 - identified the same truncating variant in ATP6V1B2 (NM_001693.4:c.1516C>T; p.Arg506*) in nine individuals from eight unrelated families with DOORS syndrome. All individuals presented with deafness as well as as onychodystrophy and abnormal fingers and/or toes. In addition, all families but one had developmental delay or intellectual disability and five individuals had epilepsy. Two additional familes with dominant deafness onychodystrophy (DDOD) syndrome also had the same variant in ATP6V1B2. Abstract only accessed.
Sources: Expert Review, Literature; to: Adding gene at request of Alistair Pagnamenta (University of Oxford).

Associated with Deafness, congenital, with onychodystrophy, autosomal dominant #124480 (AD) and Zimmermann-Laband syndrome 2 #616455 (AD) in OMIM.

PMID: 32873933 Beauregard-Lacroix et al 2020 - identified the same truncating variant in ATP6V1B2 (NM_001693.4:c.1516C>T; p.Arg506*) in nine individuals from eight unrelated families with DOORS syndrome. All individuals presented with deafness as well as as onychodystrophy and abnormal fingers and/or toes. In addition, all families but one had developmental delay or intellectual disability and five individuals had epilepsy. Two additional familes with dominant deafness onychodystrophy (DDOD) syndrome also had the same variant in ATP6V1B2. Abstract only accessed.

PMID: 28396750 Menendez et al 2017 - report a Guatemalan famliy with one child with deafness–onychodystrophy. The proband was found to be heterozygous for c.1516C>T [p.(Arg506*)] in ATP6V1B2. Neither parents or sisters had this variant.

PMID: 24913193 Yuan et al 2014 - report 3 Chinese families with severe congenital sensorineural hearing loss, absence of nails and aplasia of the middle phalanx in the fifth fingers, but no inner ear malformation or intellectual disability. Using exome sequencing an identical heterozygous de novo c.1516 C>T (p.Arg506X) mutation in ATP6V1B2 was verified in two probands. In the third family the same variant was found by Sanger sequencing. A cochlea-specific Atp6v1b2-knockdown mouse model demonstrates that Atp6v1b2 deficiency leads to severe sensorineural hearing loss.
Monogenic hearing loss v2.68 ATP6V1B2 Eleanor Williams Classified gene: ATP6V1B2 as Amber List (moderate evidence)
Monogenic hearing loss v2.68 ATP6V1B2 Eleanor Williams Gene: atp6v1b2 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v2.67 ATP6V1B2 Eleanor Williams Classified gene: ATP6V1B2 as Red List (low evidence)
Monogenic hearing loss v2.67 ATP6V1B2 Eleanor Williams Added comment: Comment on list classification: The rating of this gene should be reviewed after consultation with the Genomics England clinical team and at the next GMS review.
Monogenic hearing loss v2.67 ATP6V1B2 Eleanor Williams Gene: atp6v1b2 has been classified as Red List (Low Evidence).
Monogenic hearing loss v2.66 ATP6V1B2 Eleanor Williams edited their review of gene: ATP6V1B2: Changed rating: GREEN
Monogenic hearing loss v2.66 ATP6V1B2 Eleanor Williams gene: ATP6V1B2 was added
gene: ATP6V1B2 was added to Hearing loss. Sources: Expert Review,Literature
Mode of inheritance for gene: ATP6V1B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added comment: Adding gene at request of Alistair Pagnamenta (University of Oxford).

PMID: 32873933 Beauregard-Lacroix et al 2020 - identified the same truncating variant in ATP6V1B2 (NM_001693.4:c.1516C>T; p.Arg506*) in nine individuals from eight unrelated families with DOORS syndrome. All individuals presented with deafness as well as as onychodystrophy and abnormal fingers and/or toes. In addition, all families but one had developmental delay or intellectual disability and five individuals had epilepsy. Two additional familes with dominant deafness onychodystrophy (DDOD) syndrome also had the same variant in ATP6V1B2. Abstract only accessed.
Sources: Expert Review, Literature