SMPD4

sphingomyelin phosphodiesterase 4
OMIM: 610457, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green SMPD4 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly congenital arthrogryposis, intellectual disability
Green SMPD4 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.78	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (MIM#618622)
Green SMPD4 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MIM#618622
Green SMPD4 in Mendeliome Version 1.2302	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Severe neurodevelopmental delay, microcephaly, arthrogryposis
Green SMPD4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Severe neurodevelopmental delay, microcephaly, arthrogryposis
Green SMPD4 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.136 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MIM#618622
Green SMPD4 in Fetal anomalies Version 1.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, MONDO:0032838 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622