Retinal disorders
Gene: LAMA1
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
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
Tag for-review was removed from gene: LAMA1.
Source Expert Review Green was added to LAMA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: LAMA1.
Publications for gene: LAMA1 were set to 25105227
Publications for gene: LAMA1 were set to
Mode of inheritance for gene: LAMA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA1 were changed from to Poretti-Boltshauser syndrome, OMIM:615960
gene: LAMA1 was added gene: LAMA1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: LAMA1 was set to