Ataxia and cerebellar anomalies - narrow panel
Gene: LAMA1
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least five variants reported in at least three unrelated cases.Created: 22 Apr 2021, 9:54 a.m. | Last Modified: 22 Apr 2021, 9:54 a.m.
Panel Version: 2.134
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 22 Apr 2021, 9:27 a.m. | Last Modified: 22 Apr 2021, 9:27 a.m.
Panel Version: 2.133
LAMA1 causes Poretti-Boltshauser syndrome but this can be confused with Joubert syndromeCreated: 5 Feb 2021, 5:09 p.m. | Last Modified: 5 Feb 2021, 5:09 p.m.
Panel Version: 2.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cerebellar dysplasia; cerebellar vermis atrophy; myopia; cerebellar cysts; abnormal eye movements
Publications
Five unrelated families reported.
Sources: Expert listCreated: 12 Sep 2020, 4:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts; Poretti Boltshauser syndrome MIM#615960
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: LAMA1.
Source Expert Review Green was added to LAMA1. Source NHS GMS was added to LAMA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: LAMA1.
Phenotypes for gene: LAMA1 were changed from Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts; Poretti Boltshauser syndrome MIM#615960 to Poretti-Boltshauser syndrome OMIM:615960; ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Gene: lama1 has been classified as Amber List (Moderate Evidence).
gene: LAMA1 was added gene: LAMA1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA1 were set to 25105227 Phenotypes for gene: LAMA1 were set to Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts; Poretti Boltshauser syndrome MIM#615960 Review for gene: LAMA1 was set to GREEN gene: LAMA1 was marked as current diagnostic