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Iron metabolism disorders - NOT common HFE mutations

Gene: STAB1

Green List (high evidence)
STAB1 (stabilin 1)
EnsemblGeneIds (GRCh38): ENSG00000010327
EnsemblGeneIds (GRCh37): ENSG00000010327
OMIM: 608560, Gene2Phenotype
STAB1 is in 1 panel

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 5 Dec 2024, 9:59 p.m. | Last Modified: 5 Dec 2024, 9:59 p.m.
Panel Version: 2.8
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

Created: 24 Jan 2024, 8:31 p.m.
Last Modified: 24 Jan 2024, 9:55 p.m.
Panel version: 2.8

Edoardo Monfrini (University of Milan)

Green List (high evidence)

Sources: Literature
Created: 1 Dec 2023, 9:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperferritinemia without iron overload

Publications

Created: 1 Dec 2023, 9:05 p.m.

Panel version: 2.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperferritinemia without iron overload
OMIM
608560
Clinvar variants
Variants in STAB1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Dec 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_24_promote_green was removed from gene: STAB1.

5 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to STAB1. Source NHS GMS was added to STAB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

24 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: stab1 has been classified as Amber List (Moderate Evidence).

24 Jan 2024, Gel status: 0

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_24_promote_green tag was added to gene: STAB1.

1 Dec 2023, Gel status: 0

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

Edoardo Monfrini (University of Milan)

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