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Monogenic hearing loss v4.9 ATP2B2 Eleanor Williams Classified gene: ATP2B2 as Amber List (moderate evidence)
Monogenic hearing loss v4.9 ATP2B2 Eleanor Williams Added comment: Comment on list classification: There is now enough evidence to show that variants in this gene can cause hearing loss so the recommendation is that this gene is rated Green following GMS review.
Monogenic hearing loss v4.9 ATP2B2 Eleanor Williams Gene: atp2b2 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v4.8 ATP2B2 Eleanor Williams Phenotypes for gene: ATP2B2 were changed from {Deafness, autosomal recessive 12, modifier of} 601386 to {Deafness, autosomal recessive 12, modifier of}, OMIM:601386; Deafness, autosomal dominant 82, OMIM:619804; hearing loss, autosomal dominant 82, MONDO:0030719
Monogenic hearing loss v4.7 ATP2B2 Eleanor Williams Publications for gene: ATP2B2 were set to 30535804; 17234811
Monogenic hearing loss v4.6 ATP2B2 Eleanor Williams Tag Q2_23_promote_green tag was added to gene: ATP2B2.
Tag Q2_23_NHS_review tag was added to gene: ATP2B2.
Monogenic hearing loss v4.6 ATP2B2 Eleanor Williams changed review comment from: Comment on list classification: Promoting from red to amber. PMID 30535804 reports 5 independent cases of autosomal dominant hearing impairment in individuals with truncating or splice site variants. Rare variants in CDH23 were considered unlikely to be causative. However, they cannot exclude a modifying effect of the CDH23 variants on HI, therefore rating amber until further cases on monogenic hearing loss with ATP2B2 are reported.; to: Comment on list classification: Promoting from red to amber. PMID 30535804 reports 5 independent cases of autosomal dominant hearing impairment in individuals with truncating or splice site variants. Rare variants in CDH23 were considered unlikely to be causative. However, they cannot exclude a modifying effect of the CDH23 variants on Hearing impairment, therefore rating amber until further cases on monogenic hearing loss with ATP2B2 are reported.
Monogenic hearing loss v3.14 ATP2B2 Claire Walder reviewed gene: ATP2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30535804, 33111345, 33105617; Phenotypes: Deafness, autosomal dominant 82; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic hearing loss v1.122 ATP2B2 Eleanor Williams Classified gene: ATP2B2 as Amber List (moderate evidence)
Monogenic hearing loss v1.122 ATP2B2 Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber. PMID 30535804 reports 5 independent cases of autosomal dominant hearing impairment in individuals with truncating or splice site variants. Rare variants in CDH23 were considered unlikely to be causative. However, they cannot exclude a modifying effect of the CDH23 variants on HI, therefore rating amber until further cases on monogenic hearing loss with ATP2B2 are reported.
Monogenic hearing loss v1.122 ATP2B2 Eleanor Williams Gene: atp2b2 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v1.121 ATP2B2 Eleanor Williams Phenotypes for gene: ATP2B2 were changed from to {Deafness, autosomal recessive 12, modifier of} 601386
Monogenic hearing loss v1.120 ATP2B2 Eleanor Williams Added comment: Comment on publications: PMID: 17234811 - Ficarella et al 2007 - A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness.
Monogenic hearing loss v1.120 ATP2B2 Eleanor Williams Publications for gene: ATP2B2 were set to 30535804
Monogenic hearing loss v1.119 ATP2B2 Eleanor Williams Publications for gene: ATP2B2 were set to
Monogenic hearing loss v1.118 ATP2B2 Eleanor Williams Added comment: Comment on mode of inheritance: The 5 cases described in PMID: 30535804 show a monoallelic pattern of inheritance
Monogenic hearing loss v1.118 ATP2B2 Eleanor Williams Mode of inheritance for gene: ATP2B2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss v1.117 ATP2B2 Eleanor Williams edited their review of gene: ATP2B2: Added comment: PMID: 30535804 - Smits et al 2019 - report 5 independant cases. Whole exome sequencing in hearing impaired index cases of Dutch and Polish origins revealed five novel heterozygous (predicted to be) loss-of-function variants of ATP2B2. Two variants, c.1963G>T (p.Glu655*) and c.955delG (p.Ala319fs), occurred de novo. Three variants c.397+1G>A (p.?), c.1998C>A (p.Cys666*), and c.2329C>T (p.Arg777*), were identified in families with an autosomal dominant inheritance pattern of hearing impairment. In most cases HI was early onset, but in one individual hearing loss was reported around 55 years. Whole exome sequence (WES) data were analyzed for variants in a panel of 142 genes known to be associated with nonsyndromic hearing impairment (HI) and relatively common syndromic forms of HI. All variants affect exons, or their splice sites, that encode the ortholog of the rat PMCA2 w/a isoform. This isoform is highly abundant in stereocilia of outer hair cells (OHC) and to a lesser extent at the apical surface of inner hair cells of rats.

Although rare CDH23 variants cooccurred with ATP2B2 variants in all five index cases, they state their findings indicate that mono-allelic loss-of-function variants of ATP2B2 are the underlying cause of HI. However, variants in deep intronic regions or promoter regions were not addressed and can, therefore, not be excluded. CNVs of CDH23 can be excluded for the index cases only. They state they cannot exclude a modifying effect of the CDH23 variants on HI in the affected subjects in their study.; Changed publications: 30535804
Monogenic hearing loss v1.83 ATP2B2 Eleanor Williams commented on gene: ATP2B2
Monogenic hearing loss v1.59 ATP2B2 Emma Ashton reviewed gene: ATP2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: