Monogenic short stature
Gene: PROKR2

PROKR2 (prokineticin receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000101292
EnsemblGeneIds (GRCh37): ENSG00000101292
OMIM: 607123, Gene2Phenotype
PROKR2 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.

Created: 30 May 2019, 9:49 a.m.

Copied from panel: Growth failure in early childhood v3.81

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy

OMIM

607123

Clinvar variants

Variants in PROKR2

Penetrance

None

Publications

22319038

Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: PROKR2 was added gene: PROKR2 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: PROKR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PROKR2 were set to 22319038 Phenotypes for gene: PROKR2 were set to hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy

Monogenic short stature Gene: PROKR2