Muscular dystrophy and myopathy_Paediatric
Gene: LARGE1EnsemblGeneIds (GRCh38): ENSG00000133424
EnsemblGeneIds (GRCh37): ENSG00000133424
OMIM: 603590, Gene2Phenotype
LARGE1 is in 18 panels
2 reviews
Alison Yeung (Victorian Clinical Genetics Services)
> 4 unrelated families reported in literatureCreated: 24 Mar 2022, 12:44 a.m. | Last Modified: 24 Mar 2022, 12:44 a.m.
Panel Version: 0.11864
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy type A6, MIM# 613154; Muscular dystrophy-dystroglycanopathy type B6, MIM# 608840
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Established muscular dystrophy gene.Created: 15 Jun 2020, 10:06 a.m. | Last Modified: 15 Jun 2020, 10:06 a.m.
Panel Version: 0.202
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 603590
- Clinvar variants
- Variants in LARGE1
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Cobblestone Malformations
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Muscular dystrophy and myopathy_Paediatric
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Lissencephaly and Band Heterotopia
- Arthrogryposis
- Mendeliome
- Cataract
- Prepair 500+
- Callosome
- Cerebellar and Pontocerebellar Hypoplasia
History Filter Activity
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LARGE1 was added gene: LARGE1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LARGE1 was set to Unknown