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Mendeliome

Gene: ATG16L1

Red List (low evidence)

ATG16L1 (autophagy related 16 like 1)
EnsemblGeneIds (GRCh38): ENSG00000085978
EnsemblGeneIds (GRCh37): ENSG00000085978
OMIM: 610767, Gene2Phenotype
ATG16L1 is in 1 panel

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Elena Savva (Victorian Clinical Genetics Services)

0 SNVs reported in ClinVar

PMID: 20602997 - mice with hypomorphic alleles have abnormalities in Paneth cells, epithelial cells at the base of ileal crypts that are important in mucosal immunity.

No association to mendelian disease
Created: 18 May 2022, 6:29 a.m. | Last Modified: 18 May 2022, 6:29 a.m.
Panel Version: 0.14475

Phenotypes
{Inflammatory bowel disease (Crohn disease) 10} MIM#611081

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Inflammatory bowel disease (Crohn disease) 10} MIM#611081
OMIM
610767
Clinvar variants
Variants in ATG16L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 May 2022, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: atg16l1 has been classified as Red List (Low Evidence).

18 May 2022, Gel status: 1

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: ATG16L1 were changed from to {Inflammatory bowel disease (Crohn disease) 10} MIM#611081

18 May 2022, Gel status: 1

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: ATG16L1 were set to

18 May 2022, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: atg16l1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATG16L1 was added gene: ATG16L1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATG16L1 was set to Unknown