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  2. Ataxia - paediatric
  3. LAMA1
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Ataxia - paediatric

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated families reported.
Created: 12 Sep 2020, 4:34 a.m. | Last Modified: 12 Sep 2020, 4:34 a.m.
Panel Version: 0.240
Ataxia is part of the phenotype.
Sources: Expert list
Created: 27 Dec 2019, 5:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (763344007); Poretti Boltshauser syndrome (763344007); MIM#615960

Publications

Created: 27 Dec 2019, 5:38 a.m.

Panel version: 0.240

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Poretti-Boltshauser syndrome
  • Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
OMIM
150320
Clinvar variants
Variants in LAMA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LAMA1 were set to 26932191

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LAMA1 was added gene: LAMA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA1 were set to 26932191 Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome; Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome