Retinal disorders
Gene: POMT1
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: 30 Jan 2023, 2:08 p.m. | Last Modified: 30 Jan 2023, 2:08 p.m.
Panel Version: 3.26
Comment on list classification: New gene added by Robert Henderson (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on expert review this gene should be promoted to Green.Created: 28 Jul 2022, 2:44 p.m. | Last Modified: 28 Jul 2022, 2:44 p.m.
Panel Version: 2.280
Comment on mode of inheritance: MOI for this gene has been changed from Monoallelic to Biallelic as this is the correct MOI.Created: 28 Jul 2022, 2:43 p.m. | Last Modified: 28 Jul 2022, 2:43 p.m.
Panel Version: 2.279
This is currently included on numerous panels but not on the retina/posterior segment panel. It would merit inclusion on an inherited vitreoretinopathy slice.
Sources: Expert listCreated: 9 Jun 2022, 1:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
retinal detachment
Publications
Tag Q3_21_NHS_review was removed from gene: POMT1. Tag Q3_22_rating was removed from gene: POMT1.
Source NHS GMS was added to POMT1. Source Expert Review Green was added to POMT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_NHS_review tag was added to gene: POMT1. Tag Q3_22_rating tag was added to gene: POMT1.
Gene: pomt1 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: POMT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were changed from retinal detachment to muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, MONDO:0009364; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, MONDO:0013159
Publications for gene: POMT1 were set to PMID:16575835; 31311558; 16887026
gene: POMT1 was added gene: POMT1 was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: POMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POMT1 were set to PMID:16575835; 31311558; 16887026 Phenotypes for gene: POMT1 were set to retinal detachment Penetrance for gene: POMT1 were set to unknown Review for gene: POMT1 was set to GREEN