ISCA-37468-Loss

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green ISCA-37468-Loss Region in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.80	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green ClinGen Phenotypes episodes of sudden loss of muscle tone severe intellectual disability exiting behavior short stature eleveated serotonin levels autistic features lip-smacking hypotonia stereotypical hand movements
Red ISCA-37468-Loss Region in Paroxysmal central nervous system disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red London North GLH NHS GMS Phenotypes short stature severe intellectual disability lip-smacking exiting behavior autistic features hypotonia stereotypical hand movements eleveated serotonin levels episodes of sudden loss of muscle tone
No list ISCA-37468-Loss Region in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Removed NHS GMS Phenotypes hypotonia episodes of sudden loss of muscle tone short stature severe intellectual disability autistic features eleveated serotonin levels exiting behavior lip-smacking stereotypical hand movements Tags curated_removed
Green ISCA-37468-Loss Region in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green ClinGen Phenotypes episodes of sudden loss of muscle tone severe intellectual disability exiting behavior short stature eleveated serotonin levels autistic features lip-smacking hypotonia stereotypical hand movements
Red ISCA-37468-Loss Region in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red NHS GMS Phenotypes hypotonia episodes of sudden loss of muscle tone short stature severe intellectual disability autistic features eleveated serotonin levels exiting behavior lip-smacking stereotypical hand movements
Red ISCA-37468-Loss Region in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Other Expert Review Red Phenotypes hypotonia episodes of sudden loss of muscle tone short stature severe intellectual disability autistic features eleveated serotonin levels exiting behavior lip-smacking stereotypical hand movements