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  2. Central Hypoventilation
  3. LBX1
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Central Hypoventilation

Gene: LBX1

Amber List (moderate evidence)
LBX1 (ladybird homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000138136
EnsemblGeneIds (GRCh37): ENSG00000138136
OMIM: 604255, Gene2Phenotype
LBX1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two siblings reported with homozygous LoF variant in this gene, supportive mouse model.
Sources: Expert Review
Created: 22 Sep 2021, 10:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Central hypoventilation syndrome, congenital, 3, MIM#619483

Publications

Created: 22 Sep 2021, 10:38 p.m.

Panel version: 1.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Central hypoventilation syndrome, congenital, 3, MIM#619483
OMIM
604255
Clinvar variants
Variants in LBX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lbx1 has been classified as Amber List (Moderate Evidence).

22 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lbx1 has been classified as Amber List (Moderate Evidence).

22 Sep 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LBX1 was added gene: LBX1 was added to Central Hypoventilation. Sources: Expert Review Mode of inheritance for gene: LBX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LBX1 were set to 30487221 Phenotypes for gene: LBX1 were set to Central hypoventilation syndrome, congenital, 3, MIM#619483 Review for gene: LBX1 was set to AMBER