THOC6, THO complex 6, 79228

N. diseases: 31; N. variants: 11
Disease: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150939
Disease: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 		0.730 Biomarker disease BEFREE First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India. 31421288 2020
CUI: C3150939
Disease: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 		0.730 GeneticVariation disease BEFREE Few homozygous or compound heterozygous variants have been identified in the THOC6 gene in patients with a syndromic form of intellectual disability [Beaulieu-Boycott-Innes syndrome (BBIS); MIM: 613680]. 30476144 2019
CUI: C3150939
Disease: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 		0.730 GeneticVariation disease BEFREE Here, we describe an Italian patient with BBIS, carrying two compound heterozygous loss-of-function (LoF) variants in THOC6 (c.577C > T, p.R193* and c.792_793delCA, p.V264Vfs*48). 30238602 2018
CUI: C3150939
Disease: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 		0.730 GeneticVariation disease CLINVAR Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. 27102954 2017
CUI: C3150939
Disease: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 		0.730 GeneticVariation disease CLINVAR Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies. 27295358 2016
CUI: C3150939
Disease: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 		0.730 Biomarker disease GENOMICS_ENGLAND Confirming the candidacy of THOC6 in the etiology of intellectual disability. 26739162 2016
CUI: C3150939
Disease: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 		0.730 GermlineCausalMutation disease ORPHANET Intellectual disability associated with a homozygous missense mutation in THOC6. 23621916 2013
CUI: C3150939
Disease: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 		0.730 GeneticVariation disease UNIPROT Intellectual disability associated with a homozygous missense mutation in THOC6. 23621916 2013
CUI: C3150939
Disease: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 		0.730 Biomarker disease GENOMICS_ENGLAND Intellectual disability associated with a homozygous missense mutation in THOC6. 23621916 2013
CUI: C3150939
Disease: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 		0.730 Biomarker disease CTD_human
CUI: C3150939
Disease: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 		0.730 CausalMutation disease CLINVAR