Description
UNDER CONSTRUCTION. DO NOT USE.

3 reviewers

  • Lilian Downie (Victorian Clinical Genetics Services)

  • David Eckstein (Other)

  • Katrina Stone (Other)

5 Entities

4 reviewed, 1 green

List Entity Reviews Mode of inheritance Details
5 Entitiess
Green Green List (high evidence)
ACADM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of MIM# 201450
Tags
Red Red List (low evidence)
ACADVL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • VLCAD deficiency MIM#201475
Tags
Red Red List (low evidence)
AK2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
No list No list
ALDH7A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Epilepsy, early-onset, 4, vitamin B6-dependent
Tags
No list No list
TCN2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Transcobalamin II deficiency, MIM#275350
Tags

Downloads

Download lists

Download Version