Rare multisystem ciliopathy disorders
Gene: LAMA1
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
Publications for gene: LAMA1 were set to 25105227
Phenotypes for gene: LAMA1 were changed from cerebellar cysts; myopia; cerebellar vermis hypoplasia; gaze palsy; retinitis pigments to Poretti-Boltshauser syndrome OMIM:615960; ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Publications for gene: LAMA1 were set to https://www.ncbi.nlm.nih.gov/pubmed/25105227
Gene: lama1 has been classified as Green List (High Evidence).
gene: LAMA1 was added gene: LAMA1 was added to Rare multisystem ciliopathy disorders. Sources: Expert Review Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA1 were set to https://www.ncbi.nlm.nih.gov/pubmed/25105227 Phenotypes for gene: LAMA1 were set to cerebellar cysts; myopia; cerebellar vermis hypoplasia; gaze palsy; retinitis pigments Penetrance for gene: LAMA1 were set to Complete Review for gene: LAMA1 was set to GREEN