Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome 		1.000 Biomarker GENOMICS_ENGLAND To describe clinical characteristics and genotype of IP patients and compare clinical differences between IKBKG pathogenic variant positive and negative cohorts. 30905793

2019
Entrez Id: 1629
Gene Symbol: DBT
DBT
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		1.000 Biomarker GENOMICS_ENGLAND Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations. 31119508

2019
Entrez Id: 1629
Gene Symbol: DBT
DBT
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		1.000 Biomarker GENOMICS_ENGLAND Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening. 31112740

2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 Biomarker GENOMICS_ENGLAND Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly. 31115189

2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 Biomarker GENOMICS_ENGLAND Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 31160754

2019
Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease 		1.000 Biomarker GENOMICS_ENGLAND Prenatal diagnosis of Norrie disease based on ultrasound findings. 30125416

2019
Entrez Id: 1811
Gene Symbol: SLC26A3
SLC26A3
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		1.000 Biomarker GENOMICS_ENGLAND Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report. 30635044

2019
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		1.000 Biomarker GENOMICS_ENGLAND Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care. 30565713

2019
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		1.000 Biomarker GENOMICS_ENGLAND Challenges in diagnosis of von Willebrand disease in the presence of combined mutations of different genes. 30690834

2019
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 Biomarker GENOMICS_ENGLAND Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study. 30979546

2019
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		1.000 Biomarker GENOMICS_ENGLAND [PLA2G6 compound complicated mutation in an atypical neuroaxonal dystrophy pedigree]. 30772976

2019
Entrez Id: 114327
Gene Symbol: EFHC1
EFHC1
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		1.000 Biomarker GENOMICS_ENGLAND Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. 31056551

2019
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		1.000 Biomarker GENOMICS_ENGLAND Altered myogenesis and premature senescence underlie human TRIM32-related myopathy. 30823891

2019
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		1.000 Biomarker GENOMICS_ENGLAND Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update. 28740527

2019
Entrez Id: 5251
Gene Symbol: PHEX
PHEX
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		1.000 Biomarker GENOMICS_ENGLAND Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors. 31065622

2019
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 Biomarker GENOMICS_ENGLAND Molecular diagnoses of KS were established by identification of pathogenic variants in KMT2D (n = 5) and KDM6A (n = 4). 29907798

2019
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		1.000 Biomarker GENOMICS_ENGLAND A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy. 31369919

2019
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		1.000 Biomarker GENOMICS_ENGLAND Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement. 25821721

2019
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		1.000 Biomarker GENOMICS_ENGLAND A Rare Case Of a 2-year-old Boy With Alagille Syndrome and Type 3 Hereditary Hemochromatosis With TFR2 Mutation. 29985876

2019
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		1.000 Biomarker GENOMICS_ENGLAND Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. 30712880

2019
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		1.000 Biomarker GENOMICS_ENGLAND Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. 30712880

2019
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 Biomarker GENOMICS_ENGLAND Inotersen, a 2'-O-methyoxyethyl-modified antisense oligonucleotide, which acts by reducing the production of transthyretin, was recently demonstrated to improve disease course and quality of life in early hereditary transthyretin amyloidosis polyneuropathy in a 15-month Phase III study. 31118583

2019
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		1.000 Biomarker GENOMICS_ENGLAND Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care. 30565713

2019
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Molecular testing in holoprosencephaly. 29771000

2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker GENOMICS_ENGLAND Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group. 29661970

2018