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  2. Joubert syndrome and other neurological ciliopathies
  3. LAMC1
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Joubert syndrome and other neurological ciliopathies

Gene: LAMC1

Red List (low evidence)
LAMC1 (laminin subunit gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000135862
EnsemblGeneIds (GRCh37): ENSG00000135862
OMIM: 150290, Gene2Phenotype
LAMC1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

No evidence for Mendelian disease association at present.
Created: 20 Nov 2019, 3:39 a.m. | Last Modified: 20 Nov 2019, 3:39 a.m.
Panel Version: 0.0
Created: 20 Nov 2019, 3:39 a.m.
Last Modified: 20 Nov 2019, 3:39 a.m.
Panel version: 0.0

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
OMIM
150290
Clinvar variants
Variants in LAMC1
Penetrance
None
Panels with this gene

History Filter Activity

20 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lamc1 has been classified as Red List (Low Evidence).

20 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lamc1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAMC1 was added gene: LAMC1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LAMC1 was set to Unknown