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Intellectual disability

Gene: LRRC32

No list

LRRC32 (leucine rich repeat containing 32)
EnsemblGeneIds (GRCh38): ENSG00000137507
EnsemblGeneIds (GRCh37): ENSG00000137507
OMIM: 137207, Gene2Phenotype
LRRC32 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

Three individuals from two consanguineous families segregated the same homozygous bi-allelic variant, c.1630C>T; p.(Arg544Ter), shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death.
Sources: Literature
Created: 1 May 2020, 10:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; cleft palate; proliferative retinopathy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Intellectual disability
  • cleft palate
  • proliferative retinopathy
OMIM
137207
Clinvar variants
Variants in LRRC32
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 May 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: LRRC32 was added gene: LRRC32 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRRC32 were set to 30976112 Phenotypes for gene: LRRC32 were set to Intellectual disability; cleft palate; proliferative retinopathy Review for gene: LRRC32 was set to AMBER