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Skeletal dysplasia

Gene: LAMA5

Red List (low evidence)

LAMA5 (laminin subunit alpha 5)
EnsemblGeneIds (GRCh38): ENSG00000130702
EnsemblGeneIds (GRCh37): ENSG00000130702
OMIM: 601033, Gene2Phenotype
LAMA5 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bent bone dysplasia syndrome 2, MIM# 620076

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single family with 3 affected siblings with biallelic variants, and some supporting in vitro functional assays.
Sources: Literature
Created: 15 Jun 2021, 1:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bent bone dysplasia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Bent bone dysplasia syndrome 2, MIM# 620076
OMIM
601033
Clinvar variants
Variants in LAMA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LAMA5 were changed from Bent bone dysplasia to Bent bone dysplasia syndrome 2, MIM# 620076

15 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lama5 has been classified as Red List (Low Evidence).

15 Jun 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LAMA5 was added gene: LAMA5 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA5 were set to 33242826 Phenotypes for gene: LAMA5 were set to Bent bone dysplasia Review for gene: LAMA5 was set to RED