Ataxia and cerebellar anomalies - narrow panel
Gene: LAMA1EnsemblGeneIds (GRCh38): ENSG00000101680
EnsemblGeneIds (GRCh37): ENSG00000101680
OMIM: 150320, Gene2Phenotype
LAMA1 is in 9 panels
4 reviews
Eleanor Williams (Genomics England Curator)
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
Sarah Leigh (Genomics England Curator)
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
John Sayer (Newcastle University)
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
- https://www.ncbi.nlm.nih.gov/pubmed/25105227
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- 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
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: LAMA1.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)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)
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating tag was added to gene: LAMA1.
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: lama1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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