SPRTN

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green SPRTN in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.19	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Ruijs-Aalfs syndrome, MIM# 616200 MONDO:0014527
Amber SPRTN in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.17	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Ruijs-Aalfs syndrome, MIM# 616200 MONDO:0014527
Green SPRTN in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ruijs-Aalfs syndrome, MIM# 616200 MONDO:0014527
Red SPRTN in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Ruijs-Aalfs syndrome, MIM# 616200
Red SPRTN in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Ruijs-Aalfs syndrome
Green SPRTN in Growth failure Version 1.76	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Ruijs-Aalfs syndrome, MIM# 616200 MONDO:0014527

6 panels