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

12 reviewers

  • Lilian Rudd (Victorian Clinical Genetics Services)

  • David Eckstein (Other)

  • François BOEMER (Other)

  • Abigail Veldman (Other)

  • Katrina Stone (Other)

  • Judit Garcia (Other)

  • Jorune Balciuniene (Other)

  • Thomas Minten (Other)

  • José Manuel González de Aledo Castillo (Other)

  • Val Jacquemin (Other)

  • Kristina Hovhannesyan (Other)

  • Zornitza Stark (Victorian Clinical Genetics Services)

30 Entities

30 reviewed, 22 green

List Entity Reviews Mode of inheritance Details
30 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)
ACADVL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • VLCAD deficiency MIM#201475
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)
ALPL
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
Tags
Green Green List (high evidence)
ARSB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis VI (MPS6, MIM# 253200
Tags
Green Green List (high evidence)
BCKDHA
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Maple syrup urine disease, type Ia, MIM# 248600
Tags
Green Green List (high evidence)
BCKDHB
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Maple syrup urine disease, type Ib, MIM# 248600
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)
CD3D
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • primary immunodeficiency
  • life-threatening infections: recurrent bacterial/viral/ fungal infections
  • chronic diarrhoea
  • recurrent respiratory infections
  • failure to thrive. Immunologic profile shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype.
  • OMIM: 186790
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)
PAH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Phenylketonuria MIM#261600
Tags
Green Green List (high evidence)
RPL11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diamond-Blackfan anemia 7
Tags
Green Green List (high evidence)
RPL5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
  • Literature
Phenotypes
  • Diamond-Blackfan anemia 6
Tags
Green Green List (high evidence)
RPS17
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
  • Literature
Phenotypes
  • Diamond-Blackfan anemia 4
Tags
Green Green List (high evidence)
RPS19
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan Anemia
Tags
Green Green List (high evidence)
RPS24
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diamond-blackfan anemia 3
Tags
Green Green List (high evidence)
RPS26
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diamond-Blackfan anemia 10
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
Green Green List (high evidence)
ZAP70
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Immunodeficiency MIM#176947
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)
CYP21A2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Tags
Amber Amber List (moderate evidence)
GLA
2 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • ClinGen
  • Expert Review Amber
  • Literature
Phenotypes
  • Fabry disease (MIM 301500)
  • Fabry disease, cardiac variant (MIM 301500)
Tags
Amber Amber List (moderate evidence)
KCNJ11
2 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Diabetes mellitus, transient neonatal, 3 610582 Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820
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)
ACAT1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
Phenotypes
  • Alpha-methylacetoacetic aciduria, MIM#203750
  • Beta-ketothiolase deficiency MONDO:0008760
Tags
Red Red List (low evidence)
AK2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
Red Red List (low evidence)
SLC25A13
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
Phenotypes
  • Citrullinemia, type II, neonatal-onset, MIM# 605814
Tags

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