Muscular dystrophy and myopathy_Paediatric
Gene: POMGNT1EnsemblGeneIds (GRCh38): ENSG00000085998
EnsemblGeneIds (GRCh37): ENSG00000085998
OMIM: 606822, Gene2Phenotype
POMGNT1 is in 20 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID 26908613 and 27391550: 4 unrelated families with isolated RP in adults.
Well established association with dystroglycanopathy.Created: 24 Apr 2022, 8 a.m. | Last Modified: 24 Apr 2022, 8 a.m.
Panel Version: 0.13230
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135; Retinitis pigmentosa 76 617123
Publications
Bryony Thompson (Royal Melbourne Hospital)
>3 unrelated cases with congenital muscular dystrophy
Sources: Expert ReviewCreated: 24 Feb 2020, 11:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 MIM#253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 MIM#613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Expert Review
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 606822
- Clinvar variants
- Variants in POMGNT1
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Cobblestone Malformations
- Glaucoma congenital
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Muscular dystrophy and myopathy_Paediatric
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Prepair 500+
- Callosome
- Cerebral Palsy
- Cerebellar and Pontocerebellar Hypoplasia
History Filter Activity
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: POMGNT1 was added gene: POMGNT1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMGNT1 was set to Unknown