Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: LAMA1

Amber List (moderate evidence)

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

3 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, 9:54 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)

Green List (high evidence)

LAMA1 causes Poretti-Boltshauser syndrome but this can be confused with Joubert syndrome
Created: 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)

Green List (high evidence)

Five unrelated families reported.
Sources: Expert list
Created: 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
  • Expert Review Amber
Phenotypes
  • Poretti-Boltshauser syndrome OMIM:615960
  • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Tags
Q2_21_rating
OMIM
150320
Clinvar variants
Variants in LAMA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Apr 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: LAMA1.

22 Apr 2021, Gel status: 2

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

22 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: lama1 has been classified as Amber List (Moderate Evidence).

12 Sep 2020, Gel status: 0

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