KCTD7

potassium channel tetramerization domain containing 7
OMIM: 611725, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red KCTD7 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.45	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green KCTD7 in Neuronal ceroid lipofuscinosis Version 2.6 Latest signed off version: v2.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726 progressive myoclonic epilepsy type 3 MONDO:0012721
Red KCTD7 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726 progressive myoclonic epilepsy type 3 MONDO:0012721
Red KCTD7 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes NEURONAL CEROID LIPOFUSCINOSIS PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3
Green KCTD7 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURONAL CEROID LIPOFUSCINOSIS PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 611726
Green KCTD7 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green Expert Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726
Green KCTD7 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 NEURONAL CEROID LIPOFUSCINOSIS
Red KCTD7 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.89 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources NHS GMS Expert Review Red Phenotypes Eye Disorders
Red KCTD7 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, 611726 Eye Disorders
Green KCTD7 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726