Clefting disorders
Gene: PTDSS1EnsemblGeneIds (GRCh38): ENSG00000156471
EnsemblGeneIds (GRCh37): ENSG00000156471
OMIM: 612792, Gene2Phenotype
PTDSS1 is in 8 panels
0 reviews
Details
- Mode of Inheritance
- 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
- OMIM
- 612792
- Clinvar variants
- Variants in PTDSS1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PTDSS1 was added gene: PTDSS1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTDSS1 were set to 25363158; 15194948; 26117586; 24241535 Phenotypes for gene: PTDSS1 were set to 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 Mode of pathogenicity for gene: PTDSS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments