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GeneReviews specifications


Unique identifier OMICS_00269
Name GeneReviews
Restrictions to use None
Community driven No
Data access Browse
User data submission Not allowed
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline GeneReviews Team

GeneReviews citations


An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia

BMC Med Genet
PMCID: 5910552
PMID: 29678161
DOI: 10.1186/s12881-018-0566-0
call_split See protocol

[…] Genomic DNA was extracted from peripheral blood leukocytes using NucleoSpin® Blood (Macherey-Nagel) according to the manufacturer’s protocol. Applying the recommendation from GeneReviews® for the molecular genetic algorithm for SCADD diagnosis, we primarily focused our study on two susceptibility variants, c.625G>A and c.511C>T, and one missense pathogenic variant, c.319C> […]


Biallelic C1QBP Mutations Cause Severe Neonatal , Childhood , or Later Onset Cardiomyopathy Associated with Combined Respiratory Chain Deficiencies

Am J Hum Genet
PMCID: 5630164
PMID: 28942965
DOI: 10.1016/j.ajhg.2017.08.015

[…] ExAC Browser, GeneReviews, DiMauro, S., and Hirano, M. (1993). Mitochondrial DNA Deletion Syndromes, MutationTaster, OMIM, https://www.o […]


Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next generation Sequencing

Sci Rep
PMCID: 5577253
PMID: 28855619
DOI: 10.1038/s41598-017-09785-y
call_split See protocol

[…] e selected for one capture array (NimbleGen, Roche, Madison, WI, USA), which was designed mainly to capture the CDS of 2,181 known pathogenic genes associated with 561 Mendelian diseases based on the GeneReviews (NCBI) and Genetics Home Reference. Genomic DNA from peripheral blood or abortion tissues were fragmented into lengths ranging from 200 bp to 250 bp. The primers, adapters and indexes were […]


Knowledge base and mini expert platform for the diagnosis of inborn errors of metabolism

Genet Med
PMCID: 5763153
PMID: 28726811
DOI: 10.1038/gim.2017.108

[…] a list of links to relevant entries in external databases, such as UniProt, NCBI Gene, GeneCards, Kyoto Encyclopedia of Genes and Genomes, National Institutes of Health Genetic Testing Registry, and GeneReviews. The links were created for interoperability with existing systems and were created using a BioMart ID conversion tool, as well as URL rules specified on the resource websites., The compil […]


Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

Biomed Res Int
PMCID: 4875968
PMID: 27243033
DOI: 10.1155/2016/6421039
call_split See protocol

[…] e clinical history provided by the ordering physician, pedigree analysis, and genes known to cause epilepsy using OMIM (, PubMed (, GeneReviews (, and PhenoTips ( The IIHG diagnostic lab routinely reports candidate gene regions with sequencing coverage less […]


Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome wide research data

PMCID: 4392068
PMID: 25529582
DOI: 10.1016/S0140-6736(14)61705-0

[…] 14% of flagged variants. The phenotypes recorded for each patient were compared against those previously published for patients with similar mutations in the same gene, using primarily DDG2P, PubMed, GeneReviews, and OMIM. If the patient's phenotype was deemed to be inconsistent with the genetic change (on the basis of current knowledge of the phenotypic spectrum of that gene), the variant was not […]


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