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Fetal anomalies

Gene: LARGE1

Green List (high evidence)

LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000133424
EnsemblGeneIds (GRCh37): ENSG00000133424
OMIM: 603590, Gene2Phenotype
LARGE1 is in 18 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Severe end of the spectrum has congenital anomalies.
Created: 20 Dec 2020, 5:55 a.m. | Last Modified: 13 Jan 2022, 7 a.m.
Panel Version: 0.2054

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

Lauren Akesson (Royal Melbourne Hospital)

I don't know

While cataract is listed as a phenotypic feature in OMIM, and they are seen in related conditions caused by variants in other genes, the data linking cataract with LARGE1 variants is limited. Cataract was present in a sib-pair with 63 kb intragenic deletion in LARGE1 as part of a broader phenotype (PMID 17436019). Cataract was not present in individuals with LARGE1 variants in several other reports (PMID 12966029; 21248746; 19299310; 21248746; 19067344).
Created: 6 Apr 2020, 7:10 a.m. | Last Modified: 6 Apr 2020, 7:10 a.m.
Panel Version: 0.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 (MIM# 608840)

Publications

History Filter Activity

13 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: large1 has been classified as Green List (High Evidence).

13 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LARGE1 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154

13 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LARGE1 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LARGE1 was added gene: LARGE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARGE1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6