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Intellectual disability

Gene: LRRC32

Red List (low evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Rated Red as there is not currently enough evidence that other variants in the LRRC32 gene are disease causing.
Created: 31 Jul 2020, 12:45 p.m. | Last Modified: 31 Jul 2020, 12:45 p.m.
Panel Version: 3.212
Not associated with phenotype in OMIM or G2P.

PMID: 30976112 (2019) - homozygous stop-gain variant in LRRC32 (c.1630C>T; p.Arg544Ter) in three affected individuals from two families with global developmental delay, cleft palate, and proliferative retinopathy. In one family developmental quotient (DQ) varied from borderline low in the female (DQ = 72 at 3 years-2 months) to severely delayed in the male (DQ = 57 at 2 years-11 months). The male in the second family was even more severely delayed (DQ = 23 at 3 years-3 months).

Haplotype analysis indicates a founder effect, and therefore further cases are required to substantiate causation (added founder-effect tag).
Created: 31 Jul 2020, 12:43 p.m. | Last Modified: 31 Jul 2020, 12:45 p.m.
Panel Version: 3.212

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Global developmental delay; Speech delay; Hypotonia; Cleft palate; Proliferative retinopathy

Publications

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
  • Expert Review Red
Phenotypes
  • Intellectual disability
  • cleft palate
  • proliferative retinopathy
Tags
founder-effect
OMIM
137207
Clinvar variants
Variants in LRRC32
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jul 2020, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag founder-effect tag was added to gene: LRRC32.

31 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: lrrc32 has been classified as Red List (Low Evidence).

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