Albinism or congenital nystagmus
Gene: LAMA1
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:42 p.m. | Last Modified: 3 Mar 2022, 4:42 p.m.
Panel Version: 1.22
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases of this affected gene in patients who have an eye phenotype, 6 out of 11 cases have nystagmus. There is enough evidence to support a gene-disease association and this gene should be considered for Green status at the next review.
Sources: LiteratureCreated: 7 Jan 2021, 1:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Poretti-Boltshauser syndrome, OMIM:615960
Publications
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)
Gene: lama1 has been classified as Amber List (Moderate Evidence).
gene: LAMA1 was added gene: LAMA1 was added to Albinism or congenital nystagmus. Sources: Literature for-review tags were added to gene: LAMA1. Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA1 were set to 25105227; 28283601; 33251915; 29167897; 328840387; 32195884 Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, OMIM:615960 Review for gene: LAMA1 was set to AMBER