Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: LAMA1

No list

LAMA1 (laminin subunit alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000101680
EnsemblGeneIds (GRCh37): ENSG00000101680
OMIM: 150320, Gene2Phenotype
LAMA1 is in 7 panels

1 review

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
Phenotypes
  • Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts
  • Poretti Boltshauser syndrome MIM#615960
OMIM
150320
Clinvar variants
Variants in LAMA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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