Neurological ciliopathies

Gene: LAMA1

Green List (high evidence)

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

Green List (high evidence)

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

Green List (high evidence)

PMID: 34423300 PMCID: PMC8374969 DOI: 10.1093/braincomms/fcab163

These patients with LAMA1 may be misdiagnosed as Joubert Syndrome

Created: 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 Syndrome

Created: 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 Review

Created: 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

• https://www.ncbi.nlm.nih.gov/pubmed/25105227