PTDSS1

phosphatidylserine synthase 1
OMIM: 612792, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green PTDSS1 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.100	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Lenz-Majewski hyperostotic dwarfism MIM#151050
Green PTDSS1 in Mendeliome Version 1.3512	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lenz-Majewski hyperostotic dwarfism MIM#151050
Green PTDSS1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Lenz-Majewski hyperostotic dwarfism MIM#151050
Green PTDSS1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Lenz-Majewski hyperostotic dwarfism 151050
Green PTDSS1 in Cutis Laxa Level 2: Dermatological disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list GeneReviews Phenotypes Lenz-Majewski hyperostotic dwarfism MIM#151050
Red PTDSS1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Phenotypes broad prominent forehead delayed closure of the fontanelles dental enamel hypoplasia growth restriction Lenz-Majewski hyperostotic dwarfism, 151050 choanal atresia proximal symphalangism cutis laxa progressive sclerosis and hyperostosis of skull, vertebra and tubular bones brachydactyly of fingers and toes
Green PTDSS1 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.78 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Lenz-Majewski hyperostotic dwarfism 151050
Green PTDSS1 in Fetal anomalies Version 1.465	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Lenz-Majewski hyperostotic dwarfism MIM#151050