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Central congenital hypoventilation v1.6 PHOX2B Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #209880) and the OMIM record was last accessed on 17 December 2025.
Central congenital hypoventilation v1.6 PHOX2B Achchuthan Shanmugasundram Phenotypes for gene: PHOX2B were changed from to Congenital central hypoventilation syndrome, OMIM:209880; central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MONDO:0800026
Central congenital hypoventilation v1.5 LBX1 Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: LBX1.
Central congenital hypoventilation v1.5 LBX1 Achchuthan Shanmugasundram Classified gene: LBX1 as Amber List (moderate evidence)
Central congenital hypoventilation v1.5 LBX1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is only one published family and mouse model available in support of the association. Hence, this gene should be rated amber with the current evidence.
Central congenital hypoventilation v1.5 LBX1 Achchuthan Shanmugasundram Gene: lbx1 has been classified as Amber List (Moderate Evidence).
Central congenital hypoventilation v1.4 LBX1 Achchuthan Shanmugasundram Publications for gene: LBX1 were set to PMID: 30487221
Central congenital hypoventilation v1.3 LBX1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #619483). This OMIM record has been accessed on 13 October 2025.
Central congenital hypoventilation v1.3 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
Central congenital hypoventilation v1.2 LBX1 Achchuthan Shanmugasundram reviewed gene: LBX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30487221; Phenotypes: ?Central hypoventilation syndrome, congenital, 3, OMIM:619483, central hypoventilation syndrome, congenital, 3, MONDO:0030539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Central congenital hypoventilation v1.2 LBX1 Achchuthan Shanmugasundram Entity copied from DDG2P v6.6
Central congenital hypoventilation v1.2 LBX1 Achchuthan Shanmugasundram gene: LBX1 was added
gene: LBX1 was added to Central congenital hypoventilation. 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
Central congenital hypoventilation v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Central congenital hypoventilation v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Central congenital hypoventilation v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Central congenital hypoventilation v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Central congenital hypoventilation v0.1 PHOX2B Achchuthan Shanmugasundram reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Central congenital hypoventilation v0.1 PHOX2B Achchuthan Shanmugasundram gene: PHOX2B was added
gene: PHOX2B was added to Central congenital hypoventilation. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Central congenital hypoventilation v0.0 Achchuthan Shanmugasundram Added Panel Central congenital hypoventilation
Set list of related panels to R333
Set panel types to: GMS Rare Disease