CERT1

ceramide transporter 1
OMIM: 604677, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green CERT1 in Mendeliome Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351) Tags new gene name
Green CERT1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351)
Green CERT1 in Disorders of immune dysregulation Level 2: Immunological disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351) Tags new gene name
Green CERT1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351) Tags new gene name
Red CERT1 in Fetal anomalies Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351)