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Fetal anomalies

Gene: LRRC32

Amber List (moderate evidence)

LRRC32 (leucine rich repeat containing 32)
EnsemblGeneIds (GRCh38): ENSG00000137507
EnsemblGeneIds (GRCh37): ENSG00000137507
OMIM: 137207, Gene2Phenotype
LRRC32 is in 5 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

Gene previously reviewed for PanelApp Feb 2021 - no new relevant publications since

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Three individuals from two consanguineous families with cleft palate, proliferative retinopathy, and developmental delay had the same homozygous biallelic variant, c.1630C>T; p.(Arg544Ter), segregated and shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death.
Sources: Literature
Created: 7 Feb 2022, 4:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cleft palate, proliferative retinopathy, and developmental delay - MIM#619074

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cleft palate, proliferative retinopathy, and developmental delay - MIM#619074
OMIM
137207
Clinvar variants
Variants in LRRC32
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrrc32 has been classified as Amber List (Moderate Evidence).

8 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrrc32 has been classified as Amber List (Moderate Evidence).

7 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: LRRC32 was added gene: LRRC32 was added to Fetal anomalies. 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 Cleft palate, proliferative retinopathy, and developmental delay - MIM#619074 Review for gene: LRRC32 was set to AMBER