Structural eye disease

Gene: LAMB2

Green List (high evidence)

RH 1. Zhu: Girl with novel homozygous frameshift, parents het carriers. Phenotype includes microcoria (small pupils). Not 100% sure if this counts as a relevant phenotype for the panel. 2. Arima: Proband has novel LAMB2 mutation, microcoria and other issues with eye structure. Can't access paper, so I don't know about the inheritance or nature of the variant. 3. Kino: Child with novel compound het mutations in LAMB2. Parents are carriers. Child had right microphthalmia, bilateral anterior chamber dysgenesis, and bilateral microcoria or acorea. 4. Falix: Two children, one with microcornea and microcoria, oter with microcoria. Bot homozygous for a LAMB2 missense, parents consanguinous. 5. Zemrani: Patient had bilateral microcoria and a homozygous stop codon in LAMB2. Parents consanguinous. Patel homozygous frameshift in patient with pinpoint pupils, microcornea and microphthalmia

Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 30778388
• 30120985
• 28683731
• 28188379
• 27130041
• 29450879

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). RH 1. Zhu: Girl with novel homozygous frameshift, parents het carriers. Phenotype includes microcoria (small pupils). Not 100% sure if this counts as a relevant phenotype for the panel. 2. Arima: Proband has novel LAMB2 mutation, microcoria and other issues with eye structure. Can't access paper, so I don't know about the inheritance or nature of the variant. 3. Kino: Child with novel compound het mutations in LAMB2. Parents are carriers. Child had right microphthalmia, bilateral anterior chamber dysgenesis, and bilateral microcoria or acorea. 4. Falix: Two children, one with microcornea and microcoria, oter with microcoria. Bot homozygous for a LAMB2 missense, parents consanguinous. 5. Zemrani: Patient had bilateral microcoria and a homozygous stop codon in LAMB2. Parents consanguinous. Patel homozygous frameshift in patient with pinpoint pupils, microcornea and microphthalmia

Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 30778388
• 30120985
• 28683731
• 28188379
• 27130041
• 29450879

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