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Intellectual disability syndromic and non-syndromic

Gene: POMT2

Green List (high evidence)

POMT2 (protein O-mannosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000009830
EnsemblGeneIds (GRCh37): ENSG00000009830
OMIM: 607439, Gene2Phenotype
POMT2 is in 19 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:613150 - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
MIM:613156 - Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2
MIM:613158 - Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32427fb1-d583-47eb-a368-685ef56bad3d-2024-07-26T063000.000Z?page=1&size=25&search=
Created: 14 Nov 2024, 2:36 a.m. | Last Modified: 14 Nov 2024, 2:36 a.m.
Panel Version: 0.6707

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
myopathy caused by variation in POMT2 MONDO:0700071

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: pomt2 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: POMT2 were changed from myopathy caused by variation in POMT2 MONDO:0700071 to myopathy caused by variation in POMT2 MONDO:0700071

14 Nov 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: POMT2 were changed from to myopathy caused by variation in POMT2 MONDO:0700071

14 Nov 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: POMT2 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: POMT2 was added gene: POMT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POMT2 was set to Unknown