RNPC3

RNA binding region (RNP1, RRM) containing 3
Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green RNPC3 in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160
Green RNPC3 in Pituitary hormone deficiency Level 2: Endocrinology Version 4.4 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	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 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Phenotypes isolated growth hormone deficiency ?Growth hormone deficiency, isolated, type V, 618160 congenital cataracts
Green RNPC3 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RNPC3-associated growth hormone deficiency and short stature, OMIM:618160 Tags gene-checked
Amber RNPC3 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Phenotypes Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 Tags gene-checked watchlist
Red RNPC3 in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 Tags gene-checked