Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26007
Gene Symbol: TKFC
TKFC
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplasia in one case. 32004446

2020
Entrez Id: 57551
Gene Symbol: TAOK1
TAOK1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders. 31230721

2019
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants. 31752325

2019
Entrez Id: 8560
Gene Symbol: DEGS1
DEGS1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND DEGS1 variant causes neurological disorder. 31186544

2019
Entrez Id: 91801
Gene Symbol: ALKBH8
ALKBH8
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification. 31079898

2019
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. 28649782

2017
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. 27904971

2017
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain. 28636205

2017
Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND SPG20 mutation in three siblings with familial hereditary spastic paraplegia. 28679690

2017
Entrez Id: 51112
Gene Symbol: TRAPPC12
TRAPPC12
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. 28777934

2017
Entrez Id: 7343
Gene Symbol: UBTF
UBTF
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. 28777933

2017
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Recently, however, a homozygous nonsense DIAPH1 mutation (c.2332C4T; p.Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay, and bronchiectasis. 26463574

2016
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Personalized medicine approach confirms a milder case of ABAT deficiency. 27903293

2016
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768

2015
Entrez Id: 128637
Gene Symbol: TBC1D20
TBC1D20
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. 26063829

2015
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. 25552650

2015
Entrez Id: 54802
Gene Symbol: TRIT1
TRIT1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. 24901367

2014
Entrez Id: 201595
Gene Symbol: STT3B
STT3B
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455

2013
Entrez Id: 3703
Gene Symbol: STT3A
STT3A
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455

2013
Entrez Id: 63925
Gene Symbol: ZNF335
ZNF335
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. 23178126

2012
Entrez Id: 1644
Gene Symbol: DDC
DDC
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. 19172410

2009
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene. 15331424

2004
Entrez Id: 55275
Gene Symbol: VPS53
VPS53
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND The acute presentation of intestinal nonrotation. 2920088

1989
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 6942
Gene Symbol: TCF20
TCF20
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 Biomarker GENOMICS_ENGLAND Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability. 30525188

2019