Inflammatory bowel disease

Gene: ANKZF1

Green List (high evidence)

ANKZF1 (ankyrin repeat and zinc finger domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000163516
EnsemblGeneIds (GRCh37): ENSG00000163516
OMIM: 617541, Gene2Phenotype
ANKZF1 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England)

Green List (high evidence)

There are three unrelated cases reported with monoallelic ANKZF1 variants and infantile-onset inflammatory bowel disease. Two of these cases were reported in PMID:28302725 and the third case was reported in PMID:36857589.

However, PMID:28302725 reported only two unrelated cases with biallelic variants, of which one has homozygous variant and other has compound heterozygous variants. The homozygous variant (p.Arg585Gln) is very common in gnomAD. Functional studies show that R585Q variant causes reduced ANKZF1 mRNA and protein expression and leads to reduced stress-induced mitochondrial translocation

This gene could therefore be promoted to green rating. However, the MOI should be set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" with the current evidence.
Created: 14 Feb 2024, 3:34 p.m. | Last Modified: 14 Feb 2024, 3:34 p.m.
Panel Version: 0.112

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
inflammatory bowel disease, MONDO:0005265

Publications

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two unrelated cases (1 homozygous and 1 compound heterozygous), and supporting in vitro and yeast assays indicating that loss-of-function mutations in ANKZF1 result in deregulation of mitochondrial integrity.
Sources: Other
Created: 26 Feb 2021, 5:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile-onset inflammatory bowel disease

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related
OMIM
617541
Clinvar variants
Variants in ANKZF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANKZF1 were set to 28302725

15 Feb 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ANKZF1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

15 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ankzf1 has been classified as Green List (High Evidence).

19 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANKZF1 were changed from Infantile-onset inflammatory bowel disease to Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related

26 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ankzf1 has been classified as Amber List (Moderate Evidence).

26 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ankzf1 has been classified as Amber List (Moderate Evidence).

26 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ANKZF1 was added gene: ANKZF1 was added to Inflammatory bowel disease. Sources: Other Mode of inheritance for gene: ANKZF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANKZF1 were set to 28302725 Phenotypes for gene: ANKZF1 were set to Infantile-onset inflammatory bowel disease Review for gene: ANKZF1 was set to AMBER