PanelApp
  1. Panels
  2. Genomic newborn screening: ICoNS
Description
UNDER CONSTRUCTION. DO NOT USE.
Panel Activity

10 reviewers

  • Lilian Downie (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • David Eckstein (Other)

  • Abigail Veldman (Other)

  • Katrina Stone (Other)

  • Jorune Balciuniene (Other)

  • Judit Garcia (Other)

  • François BOEMER (Other)

  • Thomas Minten (Other)

  • José Manuel González de Aledo Castillo (Other)

15 Entities

15 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
15 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
Green Green List (high evidence)
ALDH7A1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Epilepsy, pyridoxine-dependent, MIM#266100
Tags
Green Green List (high evidence)
CBS
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types MIM#236200
Tags
Green Green List (high evidence)
F9
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Haemophilia B, MIM# 306900
Tags
Green Green List (high evidence)
GALK1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Galactokinase deficiency with cataracts MIM#230200
Tags
Green Green List (high evidence)
GAMT
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Creberal creatine deficiency syndrome 2 (MIM 612736)
Tags
Green Green List (high evidence)
LHX3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pituitary hormone deficiency, combined, 3 (MIM#221750)
Tags
Green Green List (high evidence)
TCN2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Transcobalamin II deficiency, MIM#275350
Tags
Amber Amber List (moderate evidence)
ABCC8
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Diabetes mellitus, permanent neonatal 3 MIM# 618857
Tags
Amber Amber List (moderate evidence)
MYH7
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, dilated, 1S
  • Cardiomyopathy, hypertrophic, 1
  • Congenital myopathy 7A, myosin storage, autosomal dominant
  • Congenital myopathy 7B, myosin storage, autosomal recessive
  • Laing distal myopathy
  • Left ventricular noncompaction 5
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
Red Red List (low evidence)
PAH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Phenylketonuria MIM#261600
Tags
No list No list
CYP21A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Tags
No list No list
GLA
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • ClinGen
  • Literature
Phenotypes
  • Fabry disease (MIM 301500)
  • Fabry disease, cardiac variant (MIM 301500)
Tags

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