Iron metabolism disorders - NOT common HFE mutations
Gene: STAB1
Comment on list classification: There is sufficient evidence available for the promotion of STAB1 gene to green rating in the next GMS review.Created: 24 Jan 2024, 9:57 p.m. | Last Modified: 24 Jan 2024, 9:57 p.m.
Panel Version: 2.4
PMID:37490907 reported the identification of biallelic variants in STAB10 gene in 10 individuals from 7 families with unexplained hyperferritinaemia without iron overload. All of them were in good health and had no dysmorphologies, psycho-motor development abnormalities, hearing or vision disorders, or other pathologies.
This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.Created: 24 Jan 2024, 9:54 p.m. | Last Modified: 24 Jan 2024, 9:55 p.m.
Panel Version: 2.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genetic hyperferritinemia without iron overload (disorder), SNOMED:766929007
Publications
Sources: LiteratureCreated: 1 Dec 2023, 9:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperferritinemia without iron overload
Publications
Gene: stab1 has been classified as Amber List (Moderate Evidence).
Tag Q1_24_promote_green tag was added to gene: STAB1.
gene: STAB1 was added gene: STAB1 was added to Iron metabolism disorders - NOT common HFE mutations. Sources: Literature Mode of inheritance for gene: STAB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAB1 were set to 37490907 Phenotypes for gene: STAB1 were set to Hyperferritinemia without iron overload Penetrance for gene: STAB1 were set to Complete Review for gene: STAB1 was set to GREEN