Bioinformatics (12)

Question 1

Molecular and clinical databases

Answer 1

OMIM, Ensembl, DECIPHER, ECARUCA, European Skeletal Dysplasia Network

Question 2

Inter/national bodies

Answer 2

BSGM, UKGTN, NICE, NIH/NCBI, GARD, Orphanet

Question 3

Cockayne syndrome

Answer 3

Rare autosomal recessive neurodegenerative disorder, growth failure, impaired development of NS, photosensitivity, eye disorders, ataxia and premature ageing, do not survive until 7

Question 4

OMIM

Answer 4

Online Mendelian Inheritance in Man, allows us to find genes involved, mode of inheritance and clinical synopsis

Question 5

‘GeneReviews’

Answer 5

Gives expert, up-to-date clinical and molecular information, prevalence and genetic counselling

Question 6

Orphanet

Answer 6

European rare diseases

Question 7

GARD

Answer 7

Genetic and Rare Diseases Information Centre

Question 8

UKGTN

Answer 8

UK Genetic Testing Network, shows available test and which labs do it

Question 9

Array-CGH results

Answer 9

• Imbalances at the chromosomal level
• CNV - learning/behavioural/congenital anomaly phenotypes
• Multiple genes may be deleted/duplicated
• Needs laboratory and clinical joint interpretation as to clinical significance, incorporating parental data
• May need to make recommendations on screening/surveillance
• Chance of incidental findings - deletion of cancer gene