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  3. LAMA1
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Congenital nystagmus

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)

Nystagmus is a reported feature.
Created: 27 Oct 2021, 6:26 a.m. | Last Modified: 27 Oct 2021, 6:26 a.m.
Panel Version: 0.153

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Poretti-Boltshauser syndrome, MIM# 615960

Created: 27 Oct 2021, 6:26 a.m.
Last Modified: 27 Oct 2021, 6:26 a.m.
Panel version: 0.153

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Poretti-Boltshauser syndrome, OMIM:615960
OMIM
150320
Clinvar variants
Variants in LAMA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Oct 2021, 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).

27 Oct 2021, 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).

6 Oct 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Poretti-Boltshauser syndrome, OMIM:615960 for gene: LAMA1

6 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAMA1 was added gene: LAMA1 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA1 were set to 29167897; 28283601; 32195884; 25105227; 328840387; 33251915 Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, OMIM:615960