Hydrocephalus
Gene: LAMB1
LAMB1 (laminin subunit beta 1)
EnsemblGeneIds (GRCh38): ENSG00000091136
EnsemblGeneIds (GRCh37): ENSG00000091136
OMIM: 150240, Gene2Phenotype
LAMB1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000091136
EnsemblGeneIds (GRCh37): ENSG00000091136
OMIM: 150240, Gene2Phenotype
LAMB1 is in 10 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Lissencephaly 5, OMIM:615191
- OMIM
- 150240
- Clinvar variants
- Variants in LAMB1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
25 Mar 2021, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: LAMB1 were changed from Lissencephaly 5 to Lissencephaly 5, OMIM:615191
29 Jul 2019, Gel status: 3
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to LAMB1.
31 May 2017, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
30 May 2017, Gel status: 4
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
9 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)LAMB1 was added to Hydrocephaluspanel. Source: Expert Review Green
9 May 2017, Gel status: 0
Created
Helen Brittain (Genomics England Curator)LAMB1 was created by helen.brittain
9 May 2017, Gel status: 0
Added New Source
Helen Brittain (Genomics England Curator)LAMB1 was added to Hydrocephaluspanel. Sources: Literature