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Retinal disorders

Gene: POMT1

Amber List (moderate evidence)

POMT1 (protein O-mannosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000130714
EnsemblGeneIds (GRCh37): ENSG00000130714
OMIM: 607423, Gene2Phenotype
POMT1 is in 23 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Robert Henderson (Great Ormond Street Hospital)

Green List (high evidence)

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 list
Created: 9 Jun 2022, 1:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
retinal detachment

Publications

History Filter Activity

28 Jul 2022, Gel status: 2

Added Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_NHS_review tag was added to gene: POMT1. Tag Q3_22_rating tag was added to gene: POMT1.

28 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pomt1 has been classified as Amber List (Moderate Evidence).

28 Jul 2022, Gel status: 0

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: POMT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

28 Jul 2022, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

28 Jul 2022, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: POMT1 were set to PMID:16575835; 31311558; 16887026

9 Jun 2022, Gel status: 0

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

Robert Henderson (Great Ormond Street Hospital)

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