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Fetal anomalies

Gene: LAMB2

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

Biallelic variants associated with Pierson syndrome. Phenotypic features include congenital nephrotic syndrome, ocular anomalies including microcoria. Most affected individuals die early from renal disease with survivors tending to have ID/visual loss.

Prenatal features reported in 1 consanguineous Turkish family with 4 pregnancies affected by Pierson syndrome. Antenatal ultrasound features noted include:
- 2/4 homogenous hyperechogenicity of the kidneys similar to bone tissue
- 2/4 enlargement of fetal kidneys
- 2/4 bilateral pyelectasis
- 1/4 oligohydramnios --> anhydramnios
- 1/4 hydrops
- 1/4 ancencephaly

All 4 fetuses had ultrasound anomalies. Anencephaly seen in the 4th pregnancy noted at 11 weeks resulting in MTOP. Homozygosity for LAMB2 variant confirmed. PM showed that kidneys were appropriate for gestational age. I could not find another case report of anencephaly with Pierson syndrome, this may be an incidental finding.
Sources: Literature
Created: 28 Jan 2022, 4:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pierson syndrome-MIM#609049; Nephrotic syndrome, type 5, with or without ocular abnormalities-MIM#614199

Publications

Created: 28 Jan 2022, 4:50 a.m.

Panel version: 0.2892

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pierson syndrome-MIM#609049
  • Nephrotic syndrome, type 5, with or without ocular abnormalities-MIM#614199
OMIM
150325
Clinvar variants
Variants in LAMB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Jan 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: LAMB2 was added gene: LAMB2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMB2 were set to 16450351 Phenotypes for gene: LAMB2 were set to Pierson syndrome-MIM#609049; Nephrotic syndrome, type 5, with or without ocular abnormalities-MIM#614199 Review for gene: LAMB2 was set to AMBER