THOC2

THO complex 2
OMIM: 300395, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber THOC2 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Arthrogryposis (MONDO:0008779), THOC2-related
Amber THOC2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	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 Amber Literature Phenotypes Intellectual developmental disorder, X-linked 12, MIM#300957
Green THOC2 in Mendeliome Version 1.2302	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 12/35 MIM#300957
Amber THOC2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, X-linked 12 MIM#300957
Green THOC2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked 12/35 MIM#300957
Green THOC2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive
Green THOC2 in Fetal anomalies Version 1.313	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Mental retardation, X-linked 12/35 MIM#300957 Arthrogryposis (MONDO:0008779), THOC2-related
Green THOC2 in Prepair 1000+ Level 2: Screening Version 1.1566	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 12 MIM#300957
Green THOC2 in Prepair 500+ Level 2: Screening Version 1.5	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive