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  2. Pituitary hormone deficiency
  3. RNPC3
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Pituitary hormone deficiency

Gene: RNPC3

Green List (high evidence)
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, 1:44 a.m. | Last Modified: 5 Nov 2021, 1:44 a.m.
Panel Version: 0.20
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.
Sources: Literature
Created: 5 Oct 2020, 4:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Growth hormone deficiency; Intellectual disability

Publications

Created: 5 Oct 2020, 4:43 a.m.

Panel version: 0.20

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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 29866761; 32462814

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).

5 Oct 2020, 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).

5 Oct 2020, 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).

5 Oct 2020, Gel status: 1

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 Pituitary hormone deficiency. Sources: Literature Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNPC3 were set to 29866761; 32462814 Phenotypes for gene: RNPC3 were set to Growth hormone deficiency Review for gene: RNPC3 was set to AMBER