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Growth failure
Gene: RNPC3

RNPC3 (RNA binding region (RNP1, RRM) containing 3)
EnsemblGeneIds (GRCh38): ENSG00000185946
EnsemblGeneIds (GRCh37): ENSG00000185946
RNPC3 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 33650182: third individual reported with growth failure and ID.
Created: 5 Nov 2021, 1:45 a.m. | Last Modified: 5 Nov 2021, 1:45 a.m.

Panel Version: 1.13

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.
Created: 16 Aug 2021, 5:17 a.m. | Last Modified: 16 Aug 2021, 5:17 a.m.

Panel Version: 0.152

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Growth hormone deficiency; Intellectual disability

Publications

Created: 16 Aug 2021, 5:17 a.m.
Last Modified: 16 Aug 2021, 5:17 a.m.
Panel version: 1.13

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Growth hormone deficiency
Intellectual disability

Clinvar variants

Variants in RNPC3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

5 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RNPC3 were changed from Growth hormone deficiency to Growth hormone deficiency; Intellectual disability

5 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RNPC3 were set to 32462814; 29866761; 24480542

5 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnpc3 has been classified as Green List (High Evidence).

16 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnpc3 has been classified as Amber List (Moderate Evidence).

16 Aug 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RNPC3 were changed from ?Growth hormone deficiency, isolated, type V, 618160; isolated growth hormone deficiency to Growth hormone deficiency

19 Jul 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RNPC3 was added gene: RNPC3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNPC3 were set to 32462814; 29866761; 24480542 Phenotypes for gene: RNPC3 were set to ?Growth hormone deficiency, isolated, type V, 618160; isolated growth hormone deficiency