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Fetal anomalies

Gene: PTHLH

Amber List (moderate evidence)

PTHLH (parathyroid hormone like hormone)
EnsemblGeneIds (GRCh38): ENSG00000087494
EnsemblGeneIds (GRCh37): ENSG00000087494
OMIM: 168470, Gene2Phenotype
PTHLH is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

May be identifiable prenatally.
Created: 22 Feb 2022, 6:52 a.m. | Last Modified: 22 Feb 2022, 6:53 a.m.
Panel Version: 0.3892

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brachydactyly, type E2, MIM# 613382

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Brachydactyly, type E2, MIM# 613382
OMIM
168470
Clinvar variants
Variants in PTHLH
Penetrance
None
Panels with this gene

History Filter Activity

22 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pthlh has been classified as Amber List (Moderate Evidence).

22 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pthlh has been classified as Amber List (Moderate Evidence).

22 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTHLH were changed from BRACHYDACTYLY, TYPE E2; CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS to Brachydactyly, type E2, MIM# 613382

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTHLH was added gene: PTHLH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTHLH were set to BRACHYDACTYLY, TYPE E2; CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS