Activity
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9 actions
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| DDG2P v6.8 | LBX1 | Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: LBX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.8 | LBX1 |
Achchuthan Shanmugasundram commented on gene: LBX1: 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. |
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| DDG2P v6.8 | LBX1 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.8 | LBX1 | Achchuthan Shanmugasundram Publications for gene: LBX1 were set to PMID: 30487221 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.7 | LBX1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 13 October 2025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.7 | LBX1 | Achchuthan Shanmugasundram Phenotypes for gene: LBX1 were changed from to ?Central hypoventilation syndrome, congenital, 3, OMIM:619483; central hypoventilation syndrome, congenital, 3, MONDO:0030539 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.6 | LBX1 | Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: LBX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.6 | LBX1 | Achchuthan Shanmugasundram commented on gene: LBX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.5 | LBX1 |
Ian Berry 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 Added comment: 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 |
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