Retinal disorders
Gene: LAMA1

LAMA1 (laminin subunit alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000101680
EnsemblGeneIds (GRCh37): ENSG00000101680
OMIM: 150320, Gene2Phenotype
LAMA1 is in 9 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Retinal dystrophy is part of the phenotype.
Created: 12 Oct 2020, 1:42 a.m. | Last Modified: 12 Oct 2020, 1:42 a.m.

Panel Version: 2.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Poretti-Boltshauser syndrome, MIM# 615960

Created: 12 Oct 2020, 1:42 a.m.
Last Modified: 12 Oct 2020, 1:42 a.m.
Panel version: 2.17

Ivone Leong (Genomics England Curator)

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.

Panel Version: 2.243

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases and therefore enough evidence to support a gene-disease association. This gene should be given a Green status at the next review.
Created: 7 Jan 2021, 1:19 p.m. | Last Modified: 7 Jan 2021, 1:30 p.m.

Panel Version: 2.85

Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.

Panel Version: 2.5

Created: 27 Dec 2019, 9:10 a.m.
Last Modified: 7 Jan 2021, 1:30 p.m.
Panel version: 2.243

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
RetNet

Phenotypes

Poretti-Boltshauser syndrome, OMIM:615960

OMIM

150320

Clinvar variants

Variants in LAMA1

Penetrance

None

Publications

Panels with this gene