Joubert syndrome and other neurological ciliopathies
Gene: LAMA1EnsemblGeneIds (GRCh38): ENSG00000101680
EnsemblGeneIds (GRCh37): ENSG00000101680
OMIM: 150320, Gene2Phenotype
LAMA1 is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four families with Poretti-Bolthauser syndrome identified in a cohort of 'unsolved' Joubert syndrome patients -- included due to phenotypic overlap.
Sources: LiteratureCreated: 6 Sep 2021, 5:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Poretti-Boltshauser syndrome, MIM# 615960
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Poretti-Boltshauser syndrome, MIM# 615960
- OMIM
- 150320
- Clinvar variants
- Variants in LAMA1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lama1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lama1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lama1 has been classified as Green List (High Evidence).
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 Joubert syndrome and other neurological ciliopathies. Sources: Literature Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA1 were set to 34423300 Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, MIM# 615960 Review for gene: LAMA1 was set to GREEN