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  3. LAMA1
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Syndromic Retinopathy

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)

Retinal dystrophy is part of the phenotype.
Created: 12 Oct 2020, 1:41 a.m. | Last Modified: 12 Oct 2020, 1:41 a.m.
Panel Version: 0.116

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Poretti-Boltshauser syndrome, MIM# 615960

Created: 12 Oct 2020, 1:41 a.m.
Last Modified: 12 Oct 2020, 1:41 a.m.
Panel version: 0.116

History Filter Activity

12 Oct 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).

12 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LAMA1 were changed from to Poretti-Boltshauser syndrome, MIM# 615960

12 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LAMA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: LAMA1 was added gene: LAMA1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: LAMA1 was set to Unknown