IUGR and IGF abnormalities

Gene: RNPC3

Red List (low evidence)

RNPC3 (RNA binding region (RNP1, RRM) containing 3)
EnsemblGeneIds (GRCh38): ENSG00000185946
EnsemblGeneIds (GRCh37): ENSG00000185946
RNPC3 is in 2 panels

2 reviews

Philip Murray (University of Manchester)

Green List (high evidence)

Richard Scott (Genomics England Curator)

Comment on list classification: Only one family reported to date. Insufficient evidence for green list on current evidence
Created: 2 May 2016, 9:31 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • isolated growth hormone deficiency
Clinvar variants
Variants in RNPC3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 May 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 May 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 Oct 2015, Gel status: 0

Added New Source

Philip Murray (University of Manchester)

RNPC3 was added to IUGR and IGF abnormalitiespanel. Sources: Literature

25 Oct 2015, Gel status: 0

Created

Philip Murray (University of Manchester)

RNPC3 was created by PhilMurray