Growth failure in early childhood
Gene: RNPC3

RNPC3 (RNA binding region (RNP1, RRM) containing 3)
EnsemblGeneIds (GRCh38): ENSG00000185946
EnsemblGeneIds (GRCh37): ENSG00000185946
RNPC3 is in 6 panels

3 reviews

Catherine Snow (Genomics England)

The rating of this gene has been updated to GREEN following NHS Genomic Medicine Service approval.
Created: 31 Jan 2023, 5:28 p.m. | Last Modified: 31 Jan 2023, 5:28 p.m.

Panel Version: 2.33

Created: 31 Jan 2023, 5:28 p.m.
Last Modified: 31 Jan 2023, 5:28 p.m.
Panel version: 2.33

Ivone Leong (Genomics England Curator)

Green List (high evidence)

There is now enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Created: 3 Dec 2021, 11:30 a.m. | Last Modified: 3 Dec 2021, 11:30 a.m.

Panel Version: 1.96

Comment on publications: PMID:33650182 a third case reported with growth failure and second case with ID
Created: 3 Dec 2021, 11:29 a.m. | Last Modified: 3 Dec 2021, 11:43 a.m.

Panel Version: 1.96

Comment on list classification: Based on the available evidence and expert review, this gene has been promoted from Red to Amber. This gene is associated with a relevant phenotype on OMIM.

The family described in PMIDs 24480542 and 29866761 are the same. The 3 sisters in this family had GH deficiency only. PMID: 32462814 had GH deficiency and almost undetectable levels of prolactin as well.
Created: 15 Oct 2020, 9 a.m. | Last Modified: 15 Oct 2020, 9 a.m.

Panel Version: 1.13

Created: 15 Oct 2020, 9 a.m.
Last Modified: 3 Dec 2021, 11:43 a.m.
Panel version: 1.96

Zornitza Stark (Australian Genomics)

I don't know

Two families reported. PMID 29866761: isolated growth deficiency and pituitary hypoplasia. PMID 32462814: growth hormone deficiency, central congenital hypothyroidism, congenital cataract, developmental delay/intellectual deficiency and delayed puberty. Full spectrum of phenotype unclear at present.
Created: 5 Oct 2020, 9:31 a.m. | Last Modified: 5 Oct 2020, 9:31 a.m.

Panel Version: 1.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Growth hormone deficiency

Publications

Created: 5 Oct 2020, 9:31 a.m.
Last Modified: 5 Oct 2020, 9:31 a.m.
Panel version: 1.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160

Tags

gene-checked

Clinvar variants

Variants in RNPC3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Feb 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: RNPC3.

31 Jan 2023, Gel status: 3

Removed Tag

Catherine Snow (Genomics England)

Tag Q4_21_rating was removed from gene: RNPC3.

31 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to RNPC3. Source NHS GMS was added to RNPC3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Dec 2021, Gel status: 2