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 1.3512	1 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 1.23 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	0 reviews	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 1.267 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	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 0.594	1 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 1.410	1 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 0.22	0 reviews	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 0.110	0 reviews	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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Epilepsy, progressive myoclonic
Red KCTD7 in Fetal anomalies Version 1.465	1 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 2.14	1 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 1.140	1 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)