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Mendeliome

Gene: AMBRA1

Green List (high evidence)

AMBRA1 (autophagy and beclin 1 regulator 1)
EnsemblGeneIds (GRCh38): ENSG00000110497
EnsemblGeneIds (GRCh37): ENSG00000110497
OMIM: 611359, Gene2Phenotype
AMBRA1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

5 rare missense variants were identified in 6 cases from a neural tube defect cohort, and 4 (p.Thr80Met, p.Leu274Phe, p.Ser743Phe, and p.Met884Val) of them were functionally validated to affect autophagy regulation in vitro or zebrafish embryo development in vivo. There is also null mouse model with neural tube defects.
Sources: Literature
Created: 31 Jul 2020, 4:53 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neural tube defects

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neural tube defects, susceptibility to, MONDO:0020705, AMBRA1-related
OMIM
611359
Clinvar variants
Variants in AMBRA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AMBRA1 were changed from Neural tube defects to Neural tube defects, susceptibility to, MONDO:0020705, AMBRA1-related

31 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ambra1 has been classified as Green List (High Evidence).

31 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ambra1 has been classified as Green List (High Evidence).

31 Jul 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AMBRA1 was added gene: AMBRA1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: AMBRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AMBRA1 were set to 17589504; 32333458 Phenotypes for gene: AMBRA1 were set to Neural tube defects Review for gene: AMBRA1 was set to GREEN