Limb disorders
Gene: PTHLHEnsemblGeneIds (GRCh38): ENSG00000087494
EnsemblGeneIds (GRCh37): ENSG00000087494
OMIM: 168470, Gene2Phenotype
PTHLH is in 6 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:03 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brachydactyly, type E2 613382
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Brachydactyly, type E2 613382
- OMIM
- 168470
- Clinvar variants
- Variants in PTHLH
- Penetrance
- None
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 2
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: PTHLH were changed from Brachydactyly, type E2 to Brachydactyly, type E2 613382
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to PTHLH. Panel: Limb disorders Model of inheritance for gene PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to PTHLH. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)PTHLH was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)PTHLH was created by Ellen McDonagh