Rare multisystem ciliopathy disorders
Gene: ATD
ATD (asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome))
OMIM: 208500, Gene2Phenotype
ATD is in 1 panel
OMIM: 208500, Gene2Phenotype
ATD is in 1 panel
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: demoted to Grey, this is a phenotype locus type symbolCreated: 15 Aug 2017, 1:56 p.m.
Ellen McDonagh (Genomics England Curator)
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 6 Jan 2017, 2:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 1 with or without polydactyly
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Other
- Phenotypes
-
- Short-rib thoracic dysplasia 1 with or without polydactyly
- Tags
- OMIM
- 208500
- Clinvar variants
- Variants in ATD
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: ATD.
8 Jul 2020, Gel status: 0
Added Tag
Eleanor Williams (Genomics England Curator)Tag ensembl_ids_known_missing tag was added to gene: ATD.
15 Aug 2017, Gel status: 0
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been removed from the panel.
26 Jan 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
25 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
25 Nov 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ATD was added to Rare multisystem ciliopathy disorderspanel. Sources: Other
25 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ATD was created by ellenmcdonagh