THOC2:Ensemblv115

THO complex subunit 2
OMIM: 300395, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber THOC2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Expert Review Amber 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 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Genetic Health Queensland Expert Review Green Phenotypes Mental retardation, X-linked 12/35 MIM#300957
Green THOC2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Mackenzie's Mission Expert Review Green Phenotypes Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive
Green THOC2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Mackenzie's Mission Expert Review Green Phenotypes Intellectual developmental disorder, X-linked 12 MIM#300957
Green THOC2 in Prepair 500+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Mackenzie's Mission Expert Review Green Phenotypes Intellectual developmental disorder, X-linked 12 MIM#300957