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BabyScreen+ newborn screening

Gene: LHX4

Green List (high evidence)

LHX4 (LIM homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000121454
EnsemblGeneIds (GRCh37): ENSG00000121454
OMIM: 602146, Gene2Phenotype
LHX4 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Non-genetic confirmatory testing available: hormone levels.
Created: 26 Sep 2022, 10:31 a.m. | Last Modified: 26 Sep 2022, 10:31 a.m.
Panel Version: 0.225

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pituitary hormone deficiency, combined, 4, MIM# 262700

David Amor (Murdoch Children's Research Institute)

Green List (high evidence)

Gene-disease association: strong, although very rare

Onset: congenital

Treatment: hormone replacement
Created: 26 Sep 2022, 6:18 a.m. | Last Modified: 26 Sep 2022, 6:18 a.m.
Panel Version: 0.199

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
combined pituitary hormone deficiency

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Pituitary hormone deficiency, combined, 4, MIM# 262700
Tags
treatable endocrine
OMIM
602146
Clinvar variants
Variants in LHX4
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag endocrine tag was added to gene: LHX4.

26 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lhx4 has been classified as Green List (High Evidence).

26 Sep 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LHX4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

26 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: LHX4.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LHX4 was added gene: LHX4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: LHX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4, MIM# 262700