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DDG2P

Gene: PTHLH

Green List (high evidence)

PTHLH (parathyroid hormone like hormone)
EnsemblGeneIds (GRCh38): ENSG00000087494
EnsemblGeneIds (GRCh37): ENSG00000087494
OMIM: 168470, Gene2Phenotype
PTHLH is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: increased gene dosage, loss of function.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRACHYDACTYLY, TYPE E2 613382
  • CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS
OMIM
168470
Clinvar variants
Variants in PTHLH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes BRACHYDACTYLY, TYPE E2 613382 for gene: PTHLH Publications for gene PTHLH were changed from to 20170896

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: PTHLH was added gene: PTHLH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTHLH were set to CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS