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Intellectual disability syndromic and non-syndromic

Gene: LAMB2

Green List (high evidence)

LAMB2 (laminin subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000172037
EnsemblGeneIds (GRCh37): ENSG00000172037
OMIM: 150325, Gene2Phenotype
LAMB2 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cognitive impairment described in survivors.
Created: 6 Dec 2019, 3:38 a.m. | Last Modified: 6 Dec 2019, 3:38 a.m.
Panel Version: 0.603

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pierson syndrome, MIM#609049

History Filter Activity

6 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lamb2 has been classified as Green List (High Evidence).

6 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LAMB2 were changed from to Pierson syndrome, MIM#609049

6 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LAMB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAMB2 was added gene: LAMB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LAMB2 was set to Unknown