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.