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Intellectual disability

Gene: LAMB2

No list

LAMB2 (laminin subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000172037
EnsemblGeneIds (GRCh37): ENSG00000172037
OMIM: 150325, Gene2Phenotype
LAMB2 is in 10 panels

1 review

Zornitza Stark (Australian Genomics)

Cognitive impairment described in survivors.
Sources: Expert list
Created: 8 Feb 2020, 10:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Pierson syndrome, MIM#609049

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

8 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: LAMB2 was added gene: LAMB2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB2 were set to Pierson syndrome, MIM#609049 gene: LAMB2 was marked as current diagnostic