RNPC3

Green RNPC3 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69

Sources

• Expert Review Green
• Literature

Phenotypes

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

Green RNPC3 in Pituitary hormone deficiency

Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green
• Expert Review
• Literature

Phenotypes

• Pituitary hormone deficiency, combined or isolated 7, OMIM:618160
• isolated growth hormone deficiency, type 5, MONDO:0032569

Tags

• gene-checked

Red RNPC3 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.14
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Literature
• Expert Review

Phenotypes

• isolated growth hormone deficiency
• ?Growth hormone deficiency, isolated, type V, 618160
• congenital cataracts

Green RNPC3 in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• RNPC3-associated growth hormone deficiency and short stature, OMIM:618160

Tags

• gene-checked

Green RNPC3 in Growth failure in early childhood

Version 3.95
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

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

Tags

• gene-checked

Amber RNPC3 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Literature
• Expert Review

Phenotypes

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

Tags

• watchlist
• gene-checked