KCTD7

potassium channel tetramerization domain containing 7
OMIM: 611725, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green KCTD7 in Mendeliome Version 1.2656	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)
Green KCTD7 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.17 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Progressive myoclonus epilepsy MONDO:0020074 Neuronal ceroid lipofuscinosis
Green KCTD7 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.157 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726), AR
Green KCTD7 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.581	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)
Green KCTD7 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.174	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes progressive myoclonus epilepsy MONDO:0020074 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)
Green KCTD7 in Progressive Myoclonic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726
Green KCTD7 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3)
Green KCTD7 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Epilepsy, progressive myoclonic
Red KCTD7 in Fetal anomalies Version 1.370	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)
Green KCTD7 in Prepair 1000+ Level 2: Screening Version 2.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3)
Red KCTD7 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.121	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)