SELENOI

selenoprotein I
OMIM: 607915, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber SELENOI in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes developmental delay spasticity periventricular white mater abnormalities peripheral neuropathy seizures bifid uvula in some affected individuals microcephaly
Amber SELENOI in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes developmental delay spasticity periventricular white mater abnormalities peripheral neuropathy seizures microcephaly bifid uvula in some affected individuals
Red SELENOI 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 Expert list Phenotypes developmental delay spasticity periventricular white mater abnormalities peripheral neuropathy seizures bifid uvula in some affected individuals microcephaly
Amber SELENOI in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.76 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 81, autosomal recessive 618768 developmental delay spasticity periventricular white mater abnormalities peripheral neuropathy seizures bifid uvula in some affected individuals
Red SELENOI in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Cleft palate developmental delay spasticity periventricular white mater abnormalities peripheral neuropathy seizures bifid uvula in some affected individuals