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BabyScreen+ newborn screening

Gene: LEP

Green List (high evidence)

LEP (leptin)
EnsemblGeneIds (GRCh38): ENSG00000174697
EnsemblGeneIds (GRCh37): ENSG00000174697
OMIM: 164160, Gene2Phenotype
LEP is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.

Onset is in infancy/early childhood. Similar disorders included.

Treatment: metreleptin.

Non-genetic confirmatory testing: leptin level.
Sources: Expert list
Created: 21 Mar 2023, 1:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Obesity, morbid, due to leptin deficiency (MIM#614962)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Obesity, morbid, due to leptin deficiency (MIM#614962)
Tags
treatable endocrine
OMIM
164160
Clinvar variants
Variants in LEP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Mar 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LEP was added gene: LEP was added to Baby Screen+ newborn screening. Sources: Expert list treatable, endocrine tags were added to gene: LEP. Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LEP were set to 26567097 Phenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency (MIM#614962) Review for gene: LEP was set to GREEN