Cataract
Gene: POMT1EnsemblGeneIds (GRCh38): ENSG00000130714
EnsemblGeneIds (GRCh37): ENSG00000130714
OMIM: 607423, Gene2Phenotype
POMT1 is in 22 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Two unrelated cases with biallelic POMT1 variants and cataracts as a feature of the phenotype (PMID: 19299310). Cataracts is not present in 28 other cases with POMT1-associated muscular dystrophy (PMID: 17878207;19299310).Created: 15 Apr 2020, 3:35 a.m. | Last Modified: 15 Apr 2020, 3:35 a.m.
Panel Version: 0.120
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 MIM#236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 MIM#613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 MIM#609308
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- OMIM
- 607423
- Clinvar variants
- Variants in POMT1
- Penetrance
- None
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Mackenzie's Mission_Reproductive Carrier Screening
- Cobblestone Malformations
- Glaucoma congenital
- Clefting disorders
- Prepair 1000+
- Microcephaly
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Muscular dystrophy and myopathy_Paediatric
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Anophthalmia_Microphthalmia_Coloboma
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Cataract
- Prepair 500+
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pomt1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pomt1 has been classified as Amber List (Moderate Evidence).
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 Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMT1 was set to Unknown