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Rare multisystem ciliopathy disorders

Gene: LAMA1

Green List (high evidence)

LAMA1 (laminin subunit alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000101680
EnsemblGeneIds (GRCh37): ENSG00000101680
OMIM: 150320, Gene2Phenotype
LAMA1 is in 11 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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

John Sayer (Newcastle University)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Poretti-Boltshauser syndrome OMIM:615960
  • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
OMIM
150320
Clinvar variants
Variants in LAMA1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Sep 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: LAMA1 were set to 25105227

22 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

22 Apr 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: LAMA1 were set to https://www.ncbi.nlm.nih.gov/pubmed/25105227

22 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: lama1 has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

John Sayer (Newcastle University)

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