PanelApp
  1. Panels
  2. Genomic screening in children: BabyScreen+
Description
This panel has been curated for use by the BabyScreen+ screening project. It is intended to cover conditions actionable in later childhood and will be offered alongside screening for neurodevelopmental disorders and for pharmacogenomic variants.

Criteria used in condition selection:
-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.
-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)
-Disease onset and actionability: predominantly in childhood
-Disease severity: causing significant morbidity or mortality
-Diseases with an effective treatment available that alters the natural history of disease and/or where early detection improves outcomes.

It includes conditions assessed as having strong actionability in childhood by ClinGen.
Panel Activity

5 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • chirag patel (Genetic Health Queensland)

  • Lilian Rudd (Victorian Clinical Genetics Services)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

44 Entities

44 reviewed, 35 green

List Entity Reviews Mode of inheritance Details
44 Entitiess
Green Green List (high evidence)
ABCC8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Maturity-onset diabetes of the young, type 12, MIM# 621196
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
APOB
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • hypercholesterolemia, autosomal dominant, type B MONDO:0007751
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
CALM1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 4, MIM# 614916
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
CALM2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
CASQ2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
CEL
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Maturity-onset diabetes of the young, type VIII, 609812
Tags
  • endocrine
  • for review
  • technically challenging
  • treatable
Green Green List (high evidence)
COL3A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, vascular type, MIM# 130050
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
DMD
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Duchenne muscular dystrophy MIM#310200
Tags
  • clinical trial
  • neurological
Green Green List (high evidence)
DSC2
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11, MIM# 610476
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
DSG2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 10, MIM# 610193
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
DSP
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 8, MIM# 607450
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
GCK
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • MODY, type II, AD (MIM#125851)
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
HGD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Alkaptonuria MIM#203500
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
HNF1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • MODY, type III , MIM#600496
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
HNF1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal cysts and diabetes syndrome, 137920
Tags
  • endocrine
  • SV/CNV
  • treatable
Green Green List (high evidence)
HNF4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • MODY, type I, OMIM # 125850
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
INS
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • monogenic diabetes MONDO:0015967
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
JUP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 12 MIM# 611528
  • Naxos disease MIM# 601214
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
KCNJ11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Monogenic diabetes MONDO:0015967, KCNJ11-related
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
LAMP2
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Danon disease, MIM# 300257
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
LDLR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hypercholesterolemia, familial, 1, MIM# 143890
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
LDLRAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypercholesterolemia, familial, 4, MIM# 603813
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
LOX
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Aortic aneurysm, familial thoracic 10, MIM#617168
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
MEN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Multiple endocrine neoplasia 1, MIM#131100
Tags
  • cancer
  • treatable
Green Green List (high evidence)
MYH11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Aortic aneurysm, familial thoracic 4, MIM#160745
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
NEUROD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Maturity-onset diabetes of the young 6, MIM#606394
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
PCSK9
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • hypercholesterolemia, autosomal dominant, 3 MONDO:0011369
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
PKP2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 9, MIM# 609040
Tags
  • cardiac
  • for review
  • treatable
Green Green List (high evidence)
PRKG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Aortic aneurysm, familial thoracic 8, MIM#615436
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
RFX6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • monogenic diabetes MONDO:0015967
Tags
Green Green List (high evidence)
SCN5A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Long QT syndrome 3 (MIM#603830)
  • Brugada syndrome 1, MIM# 601144
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
STK11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Peutz-Jeghers syndrome MIM#175200
Tags
Green Green List (high evidence)
TECRL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021
Tags
Green Green List (high evidence)
TNFRSF11B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Paget disease of bone 5, juvenile-onset MIM#239000
Tags
Green Green List (high evidence)
TRDN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441
Tags
Red Red List (low evidence)
AIP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
Phenotypes
  • Pituitary adenoma predisposition MIM#102200
Tags
Red Red List (low evidence)
APC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
Phenotypes
  • Adenomatous polyposis coli MIM#175100
Tags
  • cancer
Red Red List (low evidence)
CDC73
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
Phenotypes
  • Hyperparathyroidism-jaw tumor syndrome MIM#145001
Tags
Red Red List (low evidence)
NF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
Phenotypes
  • Schwannomatosis, vestibular MIM#101000
Tags
  • cancer
Red Red List (low evidence)
SMARCAL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Schimke immunoosseous dysplasia MIM#242900
Tags
Red Red List (low evidence)
SPTLC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis 27, juvenile MIM#620285
Tags
Red Red List (low evidence)
TTN
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Cardiomyopathy, dilated, 1G MIM#604145
Tags
Red Red List (low evidence)
VWF
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • von Willebrand disease, type 3 MIM#277480
Tags
Red Red List (low evidence)
ZBTB24
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069
Tags

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