Inflammatory bowel disease
Gene: ANKZF1
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
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: OtherCreated: 26 Feb 2021, 5:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile-onset inflammatory bowel disease
Publications
Publications for gene: ANKZF1 were set to 28302725
Mode of inheritance for gene: ANKZF1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: ankzf1 has been classified as Green List (High Evidence).
Phenotypes for gene: ANKZF1 were changed from Infantile-onset inflammatory bowel disease to Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related
Gene: ankzf1 has been classified as Amber List (Moderate Evidence).
Gene: ankzf1 has been classified as Amber List (Moderate Evidence).
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