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Intellectual disability syndromic and non-syndromic

Gene: LRRC45

Amber List (moderate evidence)

LRRC45 (leucine rich repeat containing 45)
EnsemblGeneIds (GRCh38): ENSG00000169683
EnsemblGeneIds (GRCh37): ENSG00000169683
LRRC45 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three individuals from two families reported with two homozygous variants, one splice site and the other missense. Features of a neurological ciliopathy with some supportive experimental evidence.
Sources: Literature
Created: 15 Jan 2025, 5:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder MONDO:0700092, LRRC45-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092, LRRC45-related
Clinvar variants
Variants in LRRC45
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jan 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrrc45 has been classified as Amber List (Moderate Evidence).

15 Jan 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrrc45 has been classified as Amber List (Moderate Evidence).

15 Jan 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRRC45 was added gene: LRRC45 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: LRRC45 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRRC45 were set to 39638757 Phenotypes for gene: LRRC45 were set to Neurodevelopmental disorder MONDO:0700092, LRRC45-related Review for gene: LRRC45 was set to AMBER