Retinal disorders
Gene: POMT1EnsemblGeneIds (GRCh38): ENSG00000130714
EnsemblGeneIds (GRCh37): ENSG00000130714
OMIM: 607423, Gene2Phenotype
POMT1 is in 20 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
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
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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, MONDO:0009364
- muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, MONDO:0013159
- OMIM
- 607423
- Clinvar variants
- Variants in POMT1
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Retinal disorders
- DDG2P
- Cerebellar hypoplasia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Clefting
- Cerebral vascular malformations
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Arthrogryposis
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_21_NHS_review was removed from gene: POMT1. Tag Q3_22_rating was removed from gene: POMT1.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)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)
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.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pomt1 has been classified as Amber List (Moderate Evidence).
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
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
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: POMT1 were set to PMID:16575835; 31311558; 16887026
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