Genomics England
GMS Panels
Panels
Genes and Entities

PTHLH

parathyroid hormone like hormone
OMIM: 168470
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRACHYDACTYLY, TYPE E2 613382, CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRACHYDACTYLY, TYPE E2, CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brachydactyly, type E2 613382
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brachydactyly, type E2 613382, Brachydactyly, type E2 613382