Neurological ciliopathies
Gene: LAMA1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:32 p.m. | Last Modified: 1 Feb 2023, 12:32 p.m.
Panel Version: 2.6
Comment on list classification: Clinical features of Poretti-Boltshauser syndrome resemble Joubert syndrome which can lead to misdiagnosis. Although not a ciliopathy per se, inclusion on ciliopathy panels may be warranted to enable differential diagnosis. The LAMA1 gene will be flagged for GMS specialist review to determine whether it is appropriate to include this gene on this panel.Created: 6 Sep 2021, 2:01 p.m. | Last Modified: 6 Sep 2021, 2:01 p.m.
Panel Version: 1.18
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, 9:55 a.m. | Last Modified: 22 Apr 2021, 9:55 a.m.
Panel Version: 1.142
PMID: 34423300 PMCID: PMC8374969 DOI: 10.1093/braincomms/fcab163
These patients with LAMA1 may be misdiagnosed as Joubert SyndromeCreated: 24 Aug 2021, 7:39 a.m. | Last Modified: 24 Aug 2021, 7:39 a.m.
Panel Version: 1.142
PMID: 34423300 PMCID: PMC8374969 DOI: 10.1093/braincomms/fcab163
These patients with LAMA1 may be misdiagnosed as Joubert SyndromeCreated: 24 Aug 2021, 7:39 a.m. | Last Modified: 24 Aug 2021, 7:39 a.m.
Panel Version: 1.142
LAMA1 causes Poretti-Boltshauser syndrome - but this is often misdiagnosed as Joubert syndrome so the ciliopathies panel needs to include LAMA1
Sources: Expert ReviewCreated: 5 Feb 2021, 5:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cerebellar cysts; myopia; cerebellar vermis hypoplasia; gaze palsy; retinitis pigments
Publications
Tag Q3_21_rating was removed from gene: LAMA1. Tag Q3_21_expert_review 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)
Gene: lama1 has been classified as Amber List (Moderate Evidence).
Tag Q3_21_rating tag was added to gene: LAMA1. Tag Q3_21_expert_review tag was added to gene: LAMA1.
gene: LAMA1 was added gene: LAMA1 was added to Neurological ciliopathies. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA1 were set to 25105227; 34423300 Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome OMIM:615960; ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419 Penetrance for gene: LAMA1 were set to Complete