Severe early-onset obesity
Gene: LRRC7EnsemblGeneIds (GRCh38): ENSG00000033122
EnsemblGeneIds (GRCh37): ENSG00000033122
OMIM: 614453, Gene2Phenotype
LRRC7 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Over 30 individuals reported with a neurodevelopmental disorder and variants in this gene. Hyperphagia and early-onset obesity is a common feature.
Sources: LiteratureCreated: 3 Oct 2024, 6:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neurodevelopmental disorder (MONDO:0700092), LRRC7-related
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- neurodevelopmental disorder (MONDO:0700092), LRRC7-related
- OMIM
- 614453
- Clinvar variants
- Variants in LRRC7
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lrrc7 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lrrc7 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LRRC7 was added gene: LRRC7 was added to Severe early-onset obesity. 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), LRRC7-related Review for gene: LRRC7 was set to GREEN