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Genetic epilepsy syndromes

Gene: POMT1

Green List (high evidence)

POMT1 (protein O-mannosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000130714
EnsemblGeneIds (GRCh37): ENSG00000130714
OMIM: 607423, Gene2Phenotype
POMT1 is in 21 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR macular dystrophy-dystroglycanopathy type 1A, B and C. Type A - Mercuri et al, 2009 - 2 Italian patients - one also had myopia and seizures mutations detected in both. In the paper - table 1 charecterstics of 43 individuals from 41 families - cases 12, 13 & 14 had epilepsy and variants in POMT1 (all unrelated). Patients 12 and 13 had prev been reported recently (Messina et al, 2008) - patient 14 had not.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), 60930

Publications

Eleanor Williams (Genomics England Curator)

Comment on list classification: >3 cases of variants in this gene in patients with a relevant phenotype. 3 patients reported with seizures.
Created: 5 Dec 2018, 1:08 p.m.
Associated with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 in OMIM and Gene2Phenotype. This condition is also known as WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED among other names.

Numerous variants reported in POMT1 in patients with this disorder.

PMID: 19299310 (Mercuri et al 2009) report 3 patients from Italy with variants in POMT1 and WWS or MEB presenting with epilepsy (cases 12, 13 and 14).
Created: 5 Dec 2018, 1:07 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of dystroglycanopathies.
Created: 19 Aug 2018, 11:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM#236670

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to POMT1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to POMT1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

5 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pomt1 has been classified as Green List (High Evidence).

5 Dec 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670

5 Dec 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: POMT1 were set to

5 Dec 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: POMT1 was changed from to BIALLELIC, autosomal or pseudoautosomal

5 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pomt1 has been classified as Green List (High Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to POMT1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

POMT1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

POMT1 was created by Sarah Leigh