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Fetal anomalies

Gene: ATP11A

Amber List (moderate evidence)

ATP11A (ATPase phospholipid transporting 11A)
EnsemblGeneIds (GRCh38): ENSG00000068650
EnsemblGeneIds (GRCh37): ENSG00000068650
OMIM: 605868, Gene2Phenotype
ATP11A is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leukodystrophy, hypomyelinating, 24 , MIM# 619851

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

PMID: 34403372
- Single de novo missense variant reported in a patient with developmental delay and neurological deterioration. Epilepsy diagnosed at 2 weeks of age followed by global developmental delay, mild hypothyroidism and cataracts.
- Repeated MRI (earliest published is from age 2 yo) showed non-progressive severe cerebral atrophy, enlarged subarachnoid space, 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
Created: 2 Dec 2021, 2:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ventriculomegaly; cerebral atrophy; hypoplasia corpus callosum

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 24 , MIM# 619851
OMIM
605868
Clinvar variants
Variants in ATP11A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP11A were changed from Ventriculomegaly; cerebral atrophy; hypoplasia corpus callosum to Leukodystrophy, hypomyelinating, 24 , MIM# 619851

2 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp11a has been classified as Amber List (Moderate Evidence).

2 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp11a has been classified as Amber List (Moderate Evidence).

2 Dec 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: ATP11A was added gene: ATP11A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP11A were set to 34403372 Phenotypes for gene: ATP11A were set to Ventriculomegaly; cerebral atrophy; hypoplasia corpus callosum Review for gene: ATP11A was set to AMBER