Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: POMT1

Green List (high evidence)

POMT1 (protein O-mannosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000130714
EnsemblGeneIds (GRCh37): ENSG00000130714
OMIM: 607423, Gene2Phenotype
POMT1 is in 22 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

DD/ID is a feature


Clingen has lumped the following as one entity

MIM:609308 - Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
MIM:613155 - Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1
MIM:236670 - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1


https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_146ee85f-a6c2-468f-aacb-a320767de36e-2024-07-26T063000.000Z?page=1&size=25&search=
Created: 14 Nov 2024, 2:35 a.m. | Last Modified: 14 Nov 2024, 2:35 a.m.
Panel Version: 0.6706

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
myopathy caused by variation in POMT1 MONDO:0700070

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

History Filter Activity

14 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

14 Nov 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: POMT1 were changed from to myopathy caused by variation in POMT1 MONDO:0700070

14 Nov 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POMT1 was added gene: POMT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POMT1 was set to Unknown