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  3. LAMA1
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Cerebral Palsy

Gene: LAMA1

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

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

1 individual reported with biallelic pathogenic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Cerebellar cysts and periventricular white matter abnormalities are common imaging findings in Poretti-Boltshauser syndrome.
Sources: Literature
Created: 19 Jun 2024, 1:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Poretti-Boltshauser syndrome, MIM#615960

Publications

Created: 19 Jun 2024, 1:59 a.m.

Panel version: 1.291

History Filter Activity

26 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lama1 has been classified as Red List (Low Evidence).

26 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lama1 has been classified as Red List (Low Evidence).

19 Jun 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: LAMA1 was added gene: LAMA1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA1 were set to PMID: 38693247 Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, MIM#615960 Review for gene: LAMA1 was set to RED