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Mendeliome v1.892 ATP11A Zornitza Stark Classified gene: ATP11A as Green List (high evidence)
Mendeliome v1.892 ATP11A Zornitza Stark Gene: atp11a has been classified as Green List (High Evidence).
Mendeliome v1.891 ATP11A Zornitza Stark edited their review of gene: ATP11A: Added comment: PMID 35278131 reports three additional families with deafness, including segregation in a large pedigree.; Changed rating: GREEN; Changed publications: 35278131
Mendeliome v1.446 ATP11A Zornitza Stark Publications for gene: ATP11A were set to PMID: 34403372; 35278131
Mendeliome v1.445 ATP11A Zornitza Stark edited their review of gene: ATP11A: Changed phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851, Deafness, autosomal dominant 84 (MIM#619810)
Mendeliome v1.445 ATP11A Chern Lim reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36300302; Phenotypes: Deafness, autosomal dominant 84 (MIM#619810); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13168 ATP11A Zornitza Stark Phenotypes for gene: ATP11A were changed from Neurological disorder; Deafness, autosomal dominant 84 MIM#619810 to Leukodystrophy, hypomyelinating, 24 , MIM# 619851Deafness, autosomal dominant 84 MIM#619810
Mendeliome v0.13167 ATP11A Zornitza Stark edited their review of gene: ATP11A: Changed rating: AMBER
Mendeliome v0.13167 ATP11A Zornitza Stark reviewed gene: ATP11A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12736 ATP11A Zornitza Stark Phenotypes for gene: ATP11A were changed from Neurological disorder to Neurological disorder; Deafness, autosomal dominant 84 MIM#619810
Mendeliome v0.12735 ATP11A Zornitza Stark Publications for gene: ATP11A were set to PMID: 34403372
Mendeliome v0.12734 ATP11A Zornitza Stark Mode of inheritance for gene: ATP11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12726 ATP11A Paul De Fazio reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: 35278131; Phenotypes: Deafness, autosomal dominant 84 MIM#619810; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.9299 ATP11A Zornitza Stark Marked gene: ATP11A as ready
Mendeliome v0.9299 ATP11A Zornitza Stark Gene: atp11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9299 ATP11A Zornitza Stark Classified gene: ATP11A as Amber List (moderate evidence)
Mendeliome v0.9299 ATP11A Zornitza Stark Gene: atp11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9297 ATP11A Elena Savva gene: ATP11A was added
gene: ATP11A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP11A were set to PMID: 34403372
Phenotypes for gene: ATP11A were set to Neurological disorder
Mode of pathogenicity for gene: ATP11A was set to Other
Review for gene: ATP11A was set to AMBER
Added comment: PMID: 34403372:
- Single de novo missense variant reported in a patient with developmental delay and neurological deterioration.
- Patient MRI showed severe cerebral atrophy, ventriculomegaly, hypomyelination leukodystrophy, thinned corpus callosum. Axonal neuropathy suggested.
- K/I heterozygous mice died perinatally.
- Functional studies on missense variant show plasma membrane lipid content impairment, reduced ATPase activity etc.

gnomAD: some NMD PTCs present, good quality variants found with 4-5 hets.
Sources: Literature