PISD

phosphatidylserine decarboxylase
OMIM: 612770, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green PISD in Cataract Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services
Green PISD in Mendeliome Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Liberfarb syndrome, MIM# 618889 Intellectual disability cataracts retinal degeneration microcephaly deafness short stature white matter abnormalities
Green PISD in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Liberfarb syndrome, MIM# 618889 Intellectual disability cataracts retinal degeneration microcephaly deafness short stature white matter abnormalities
Green PISD in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability cataracts retinal degeneration microcephaly deafness short stature white matter abnormalities no OMIM number yet.
Green PISD in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Liberfarb syndrome MIM# 618889 Spondylometaphyseal dysplasia with large epiphyses, MONDO:0100510
Red PISD in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Liberfarb syndrome MIM#618889