Condition: Moderate intellectual disability


rs1135401778 in BPTF gene and Moderate intellectual disability PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1135402760 in BRSK2 gene and Moderate intellectual disability PMID 30879638 2019 Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

rs767961672 in FOXG1 gene and Moderate intellectual disability PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs797045140 in IQSEC2 gene and Moderate intellectual disability PMID 26733290 2016 A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

rs1553654413 in ITPR1 gene and Moderate intellectual disability PMID 29663667 2018 A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

rs149617956 in MITF gene and Moderate intellectual disability PMID 23167872 2013 Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

PMID 22012259 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

PMID 26650189 2016 Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

rs869312667 in NBEA gene and Moderate intellectual disability PMID 30269351 2018 NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

rs1554297905 in RALA gene and Moderate intellectual disability PMID 30500825 2018 De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

rs1555447569 in SCAPER gene and Moderate intellectual disability PMID 28794130 2017 Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.

rs1555970404 in ZNF711 gene and Moderate intellectual disability PMID 27993705 2017 Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

PMID 19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.