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DDG2P

Gene: LBX1

No list
LBX1 (ladybird homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000138136
EnsemblGeneIds (GRCh37): ENSG00000138136
OMIM: 604255, Gene2Phenotype
LBX1 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The DDG2P panel is not curated at Genomics England and is updated only to reflect the latest knowledge from the Gene2Phenotype resource (https://www.ebi.ac.uk/gene2phenotype/) This gene has been added with amber rating on R333 Central congenital hypoventilation panel (https://panelapp.genomicsengland.co.uk/panels/1314/gene/LBX1/) as this phenotype clearly fits into the scope of R333 clinical indication.

The 'curated_removed' tag has been added so that this gene won't be relevant on this panel until it is added to the DD panel on G2P resource.
Created: 13 Oct 2025, 9:52 a.m. | Last Modified: 13 Oct 2025, 9:52 a.m.
Panel Version: 6.8
Comment on phenotypes: OMIM phenotype accessed on 13 October 2025
Created: 13 Oct 2025, 9:49 a.m. | Last Modified: 13 Oct 2025, 9:49 a.m.
Panel Version: 6.7
Created: 13 Oct 2025, 9:27 a.m.
Last Modified: 13 Oct 2025, 9:27 a.m.
Panel version: 6.8

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Single sib-pair in PMID: 30487221 with congenital central hypoventilation syndrome, 1bp resulting in a frameshift in the terminal exon. Mouse model of the same variant expressed a protein with an altered C-terminal and replicated the human phenotype.

Subsequent unpublished studies (in process of publication): 2 further cases in CVA/GEL dataset with comparable phenotypes, 2 further probands (with segregation) in other families via multinational collaboration.

All cases appear to have the same variant NM_006562.5: c.707del p.(Val236Alafs*59) which may be a Roma founder.
Sources: Expert Review
Created: 8 Sep 2025, 7:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Sep 2025, 7:26 p.m.

Panel version: 6.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • ?Central hypoventilation syndrome, congenital, 3, OMIM:619483
  • central hypoventilation syndrome, congenital, 3, MONDO:0030539
Tags
founder-effect curated_removed
OMIM
604255
Clinvar variants
Variants in LBX1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Oct 2025, Gel status: 0

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag founder-effect tag was added to gene: LBX1.

13 Oct 2025, Gel status: 0

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: LBX1 were set to PMID: 30487221

13 Oct 2025, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: LBX1 were changed from to ?Central hypoventilation syndrome, congenital, 3, OMIM:619483; central hypoventilation syndrome, congenital, 3, MONDO:0030539

13 Oct 2025, Gel status: 0

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag curated_removed tag was added to gene: LBX1.

8 Sep 2025, Gel status: 0

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

Ian Berry (Leeds Genetics Laboratory)

gene: LBX1 was added gene: LBX1 was added to DDG2P. Sources: Expert Review Mode of inheritance for gene: LBX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LBX1 were set to PMID: 30487221 Penetrance for gene: LBX1 were set to Complete Review for gene: LBX1 was set to GREEN gene: LBX1 was marked as current diagnostic