Limb disordersGene: PTHLH
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.
Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brachydactyly, type E2 613382
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 2
Phenotypes for gene: PTHLH were changed from Brachydactyly, type E2 to Brachydactyly, type E2 613382
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
London South East RGC GSTT was added to PTHLH. Panel: Limb disorders
PTHLH was added to Limb disorders panel. Sources: Viapath
PTHLH was created by Ellen McDonagh