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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. ATG7
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: ATG7

Amber List (moderate evidence)
ATG7 (autophagy related 7)
EnsemblGeneIds (GRCh38): ENSG00000197548
EnsemblGeneIds (GRCh37): ENSG00000197548
OMIM: 608760, Gene2Phenotype
ATG7 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

PMID: 30224786 - a heterozygous missense (p.Phe403Leu) in a single proband with POI and in vitro functional assays supporting loss of function for the variant.
PMID: 34161705 - one family with biallelic variants and SCAR31 had late-onset or no puberty, and another patient with SCAR31 from another family presented with hypogonadotropic hypogonadism and gynecomastia (2/5 families reported with endocrine features).
PMID: 25590799 - germ cell-specific mouse Atg7 knockout recapitulates the human POI phenotype
Sources: Literature
Created: 28 Nov 2021, 10:56 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 31 MIM#619422; primary ovarian insufficiency

Publications

Created: 28 Nov 2021, 10:56 p.m.

Panel version: 0.215

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 31 MIM#619422
  • primary ovarian insufficiency
OMIM
608760
Clinvar variants
Variants in ATG7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atg7 has been classified as Amber List (Moderate Evidence).

28 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atg7 has been classified as Amber List (Moderate Evidence).

28 Nov 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATG7 was added gene: ATG7 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: ATG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATG7 were set to 34794894; 34161705; 30224786; 25590799 Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, autosomal recessive 31 MIM#619422; primary ovarian insufficiency Review for gene: ATG7 was set to AMBER