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Intellectual disability syndromic and non-syndromic

Gene: LRRC7

Green List (high evidence)

LRRC7 (leucine rich repeat containing 7)
EnsemblGeneIds (GRCh38): ENSG00000033122
EnsemblGeneIds (GRCh37): ENSG00000033122
OMIM: 614453, Gene2Phenotype
LRRC7 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 30 affected individuals reported.
Created: 3 Oct 2024, 6:33 a.m. | Last Modified: 3 Oct 2024, 6:33 a.m.
Panel Version: 0.6314

Phenotypes
neurodevelopmental disorder (MONDO:0700092), LRRC7-related

Publications

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well established gene-disease association.
Neurodevelopmental disorder with a clinical spectrum - symptoms include ID, ADHD, aggression and in many cases, hyperphagia associate obesity.
Heterozygous missense and LoF variants have been reported and functional assays were conducted on missense and truncating variants that support LoF mechanism of disease.
Sources: Literature
Created: 3 Oct 2024, 3:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder (MONDO:0700092)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • neurodevelopmental disorder (MONDO:0700092), LRRC7-related
OMIM
614453
Clinvar variants
Variants in LRRC7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrrc7 has been classified as Green List (High Evidence).

3 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LRRC7 were changed from neurodevelopmental disorder (MONDO:0700092) to neurodevelopmental disorder (MONDO:0700092), LRRC7-related

3 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrrc7 has been classified as Green List (High Evidence).

3 Oct 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: LRRC7 was added gene: LRRC7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: LRRC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LRRC7 were set to 39256359 Phenotypes for gene: LRRC7 were set to neurodevelopmental disorder (MONDO:0700092) Review for gene: LRRC7 was set to GREEN