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Intellectual disability

Gene: LAMB2

Amber List (moderate evidence)

LAMB2 (laminin subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000172037
EnsemblGeneIds (GRCh37): ENSG00000172037
OMIM: 150325, Gene2Phenotype
LAMB2 is in 9 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Given the incomplete penetrance of the ID phenotype, these patients are more likely to be recognised on the basis of the renal phenotype and ocular abnormalilites - LAMB2 has a Green rating on these panels, while an Amber classification might be most appropriate for the ID panel.
Created: 31 Jul 2020, 9:31 a.m. | Last Modified: 31 Jul 2020, 9:31 a.m.
Panel Version: 3.210
Biallelic truncating variants are associated with a severe nephrotic syndrome and retinal disease, usually leading to death in the first weeks of life. Psychomotor delay was evident in four surviving patients, owing to renal replacement therapy, albeit all died within ages 1.3-4.8 years (PMID:15367484;17256789). However, at least three unrelated individuals have also been reported with truncating variants in both alleles for whom neurologic examination revealed normal cognition (age 6, 18, and 20 at time of publication) (PMID:19251977;18278520;20556798), suggesting a role of unknown genetic or environmental modifiers.

Missense variants in the LAMB2 gene have been associated with a milder phenotype and normal cognitive development, presumed to be attributable to some residual LAMB2 function (PMID:16912710;16921188;17256789;21236492).
Created: 31 Jul 2020, 9:29 a.m. | Last Modified: 31 Jul 2020, 9:29 a.m.
Panel Version: 3.209

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pierson syndrome, 609049

Publications

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

Phenotypes
Pierson syndrome, MIM#609049

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

History Filter Activity

31 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: lamb2 has been classified as Amber List (Moderate Evidence).

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