This Panel is marked as Internal

Newborn Genomes Superpanel (Version 0.687)

Relevant disorders: Newborn Genomes Programme, Generation Study
This panel contains these 4 panels:
Newborns main panel v0.508
Newborns additional phenotypes panel 1 v0.114
Newborns additional phenotypes panel 2 v0.31
Newborns additional phenotypes panel 3 v0.13
Panel types: Research

Description

This panel is used for the NHS-embedded Newborn Genomes Programme's Generation Study, to explore the benefits, challenges, and practicalities of sequencing and analysing newborns' genomes.

The Generation Study is a research project. The bioinformatic pipeline for the Generation Study panel functions differently to the Genomic Medicine Service pipeline. The Generation Study pipeline will only identify previously reported or presumed pathogenic and likely pathogenic variants. Generation Study participants who meet the eligibility criteria for genetic testing according to the National Genomic Test Directory should receive a standard of care test even if the genes of interest are included in the Generation Study panel (https://www.england.nhs.uk/publication/national-genomic-test-directories/)

The content of this panel contains the initial list of the genes and conditions that will be included when the Generation study begins, which was published on the Genomics England website in October 2023 https://www.genomicsengland.co.uk/initiatives/newborns/choosing-conditions/conditions-list-generation-study

This list may be subject to further change during the study with conditions being added or removed in response to emerging research and evidence. Any changes made will be highlighted in an amended published list, and this panel will be updated.

Four principles have been established to guide in the selection of genes and conditions to include in the study.
Principle A: There is strong evidence that the genetic variant(s) causes the condition and can be reliably detected.
Principle B: A high proportion of individuals who have the genetic variant(s) would be expected to have symptoms that would have a debilitating impact on quality of life if left undiagnosed.
Principle C: Early or pre-symptomatic intervention for the condition has been shown to lead to substantially improved outcomes in children, compared to intervention after the onset of symptoms.
Principle D: Conditions screened for are only those for which the interventions are equitably accessible for all.

Gene-disease pairs rated Green will be included in the programme as they fulfill the 4 principles.
Gene-disease pairs rated Amber might be included in the future.
Gene-disease pairs rated Red are not suitable for inclusion.

We encourage PanelApp users to refer to the condition selection principles when adding reviews to this panel.
Any questions relating to this panel can be asked via email to the Genomics England Service Desk [email protected], with "Generation study" in the subject.

Further information on the Generation Study can be found https://www.genomicsengland.co.uk/initiatives/newborns

This panel contains 4 component panels: Newborns main panel (https://panelapp.genomicsengland.co.uk/panels/1273/) Newborns additional phenotypes panel 1 (https://panelapp.genomicsengland.co.uk/panels/1274/) Newborns additional phenotypes panel 2 (https://panelapp.genomicsengland.co.uk/panels/1306/) and Newborns additional phenotypes panel 3 (https://panelapp.genomicsengland.co.uk/panels/1307/) This is to account for different disease associations, modes of inheritance, and mechanisms of pathogenicity per gene.

970 Entities

970 reviewed, 581 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 970 Entitiess
Green List (high evidence)	AAAS Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Achalasia-addisonianism-alacrimia syndrome Tags
Green List (high evidence)	ABCB11 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 2 Tags
Green List (high evidence)	ABCB4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 3 Tags
Green List (high evidence)	ABCC6 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Generalized arterial calcification of infancy 2 Tags
Green List (high evidence)	ABCC8 Newborns additional phenotypes panel 1 v0.114	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Diabetes mellitus, permanent neonatal 3, with or without neurologic features, autosomal recessive Tags special_consideration
Green List (high evidence)	ABCC8 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia, familial, 1 Tags special_consideration
Green List (high evidence)	ABCD1 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Adrenoleukodystrophy Tags
Green List (high evidence)	ABCD4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type Tags
Green List (high evidence)	ACAD9 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 20 Tags
Green List (high evidence)	ACADM Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Medium-chain acyl-CoA dehydrogenase deficiency Tags
Green List (high evidence)	ACADVL Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes VLCAD deficiency Tags special_consideration
Green List (high evidence)	ACAT1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Alpha-methylacetoacetic aciduria Tags
Green List (high evidence)	ACOX2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital bile acid synthesis defect type 6 Tags
Green List (high evidence)	ADA Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Severe combined immunodeficiency due to ADA deficiency Tags special_consideration
Green List (high evidence)	ADA2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Deficiency of ADA2 (DADA2) Tags
Green List (high evidence)	ADAMTS13 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Familial thrombotic thrombocytopenic purpura Tags
Green List (high evidence)	AGL Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease type III Tags
Green List (high evidence)	AGPAT2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital generalized lipodystrophy type 1 Tags
Green List (high evidence)	AGRN Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects Tags special_consideration
Green List (high evidence)	AGXT Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperoxaluria, primary, type 1 Tags
Green List (high evidence)	AICDA Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency with hyper-IgM, type 2 Tags
Green List (high evidence)	AIRE Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia Tags
Green List (high evidence)	AK2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Reticular Dysgenesis Tags
Green List (high evidence)	AKR1D1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 2 Tags
Green List (high evidence)	ALAS2 Newborns additional phenotypes panel 1 v0.114	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Protoporphyria, erythropoietic, X-linked Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	ALDH7A1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pyridoxine dependent epilepsy Tags
Green List (high evidence)	ALDOB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hereditary fructose intolerance Tags
Green List (high evidence)	ALG14 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates Tags special_consideration
Green List (high evidence)	ALG2 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-14 Tags special_consideration
Green List (high evidence)	ALPK1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ROSAH syndrome Tags
Green List (high evidence)	ALPL Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autosomal recessive hypophosphatasia Tags special_consideration
Green List (high evidence)	AMACR Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 4 Tags
Green List (high evidence)	AMH Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Persistent Mullerian duct syndrome, type I Tags special_consideration
Green List (high evidence)	AMHR2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Persistent Mullerian duct syndrome, type II Tags special_consideration
Green List (high evidence)	AMN Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Imerslund-Grasbeck syndrome 2 Tags
Green List (high evidence)	ANOS1 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) Tags
Green List (high evidence)	AP3B1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hermansky-Pudlak syndrome 2 Tags
Green List (high evidence)	AP3D1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hermansky-Pudlak syndrome 10 Tags
Green List (high evidence)	APOA5 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes apolipoprotein A-V deficiency Tags
Green List (high evidence)	APOB Newborns additional phenotypes panel 2 v0.31	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypercholesterolaemia, familial, 2 autosomal recessive Tags special_consideration
Green List (high evidence)	APOB Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypobetalipoproteinaemia Tags special_consideration
Green List (high evidence)	APOC2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperlipoproteinemia, type Ib Tags
Green List (high evidence)	APRT Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Adenine phosphoribosyltransferase deficiency Tags
Green List (high evidence)	AQP2 Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Dominant diabetes insipidus, nephrogenic, 2 Tags special_consideration
Green List (high evidence)	AQP2 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Recessive diabetes insipidus, nephrogenic, 2 Tags special_consideration
Green List (high evidence)	ARG1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Argininaemia Tags
Green List (high evidence)	ARMC4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 23 Tags new-gene-name
Green List (high evidence)	ARPC1B Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease Tags
Green List (high evidence)	ARSA Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Metachromatic leukodystrophy Tags special_consideration
Green List (high evidence)	ARSB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucopolysaccharidosis Type VI Tags
Green List (high evidence)	ASL Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Argininosuccinic aciduria Tags special_consideration
Green List (high evidence)	ASS1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Citrullinaemia Tags
Green List (high evidence)	ATP6V0A4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Distal renal tubular acidosis type 3 with or without sensorineural hearing loss Tags
Green List (high evidence)	ATP6V1B1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Distal renal tubular acidosis type 2 with progressive sensorineural hearing loss Tags
Green List (high evidence)	ATP7B Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Wilson Disease Tags
Green List (high evidence)	ATP8B1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 1 Tags
Green List (high evidence)	AVP Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diabetes insipidus, neurohypophyseal, autosomal dominant Tags special_consideration
Green List (high evidence)	AVP Newborns additional phenotypes panel 1 v0.114	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Diabetes insipidus, neurohypophyseal, autosomal recessive Tags special_consideration
Green List (high evidence)	AVPR2 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Diabetes insipidus, nephrogenic, 1 Tags
Green List (high evidence)	BAAT Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bile acid conjugation defect 1 Tags
Green List (high evidence)	BCKDHA Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Maple syrup urine disease, type Ia Tags
Green List (high evidence)	BCKDHB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Maple syrup urine disease, type Ib Tags
Green List (high evidence)	BCKDK Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency Tags
Green List (high evidence)	BLNK Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Agammaglobulinaemia 4 Tags
Green List (high evidence)	BMP1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type XIII Tags special_consideration
Green List (high evidence)	BSCL2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipodystrophy, congenital generalized, type 2 Tags
Green List (high evidence)	BTD Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Biotinidase deficiency Tags special_consideration
Green List (high evidence)	BTK Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes X-linked Agammaglobulinaemia Tags
Green List (high evidence)	C11orf70 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ciliary dyskinesia, primary, 38 Tags new-gene-name
Green List (high evidence)	C17orf62 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chronic granulomatous disease 5 Tags new-gene-name
Green List (high evidence)	C2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C2 deficiency Tags
Green List (high evidence)	C21orf59 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 26 Tags new-gene-name
Green List (high evidence)	C3 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C3 deficiency Tags special_consideration
Green List (high evidence)	C5 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C5 deficiency Tags
Green List (high evidence)	C6 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C6 deficiency Tags
Green List (high evidence)	C7 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C7 deficiency Tags
Green List (high evidence)	C8A Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C8 deficiency, type I Tags
Green List (high evidence)	C8B Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C8 deficiency, type II Tags
Green List (high evidence)	C9 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C9 deficiency Tags
Green List (high evidence)	CA2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteopetrosis with renal tubular acidosis Tags
Green List (high evidence)	CA5A Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency Tags
Green List (high evidence)	CAD Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Uridine-responsive epileptic encephalopathy Tags
Green List (high evidence)	CASR Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Neonatal hyperparathyroidism, Autosomal Recessive Tags special_consideration
Green List (high evidence)	CASR Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Neonatal hyperparathyroidism, Autosomal Dominant Tags special_consideration
Green List (high evidence)	CAV1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipodystrophy, congenital generalized, type 3 Tags
Green List (high evidence)	CAVIN1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipodystrophy, congenital generalized, type 4 Tags
Green List (high evidence)	CBS Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homocystinuria, B6-responsive and nonresponsive types Tags
Green List (high evidence)	CCBE1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1 Tags
Green List (high evidence)	CCDC103 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 17 Tags new-gene-name
Green List (high evidence)	CCDC114 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 20 Tags new-gene-name
Green List (high evidence)	CCDC151 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 30 Tags new-gene-name
Green List (high evidence)	CCDC39 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary Ciliary Dyskinesia 14 Tags
Green List (high evidence)	CCDC40 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary Ciliary Dyskinesia 7 Tags
Green List (high evidence)	CCDC65 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 27 Tags new-gene-name
Green List (high evidence)	CCNO Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 29 Tags
Green List (high evidence)	CD247 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 25, severe combined Tags
Green List (high evidence)	CD3D Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 19, severe combined Tags
Green List (high evidence)	CD3E Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 18 Tags
Green List (high evidence)	CD3G Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 17, CD3 gamma deficient Tags
Green List (high evidence)	CD40 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency with hyper-IgM, type 3 Tags
Green List (high evidence)	CD40LG Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes X-linked immunodeficiency with hyper-IgM type 1 Tags
Green List (high evidence)	CD70 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lymphoproliferative syndrome 3 Tags
Green List (high evidence)	CD79A Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Agammaglobulinaemia 3 Tags
Green List (high evidence)	CD79B Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Agammaglobulinaemia 6 Tags
Green List (high evidence)	CDCA7 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 3 Tags
Green List (high evidence)	CDKN1C Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes IMAGE syndrome Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	CEBPE Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Specific granule deficiency 1 Tags
Green List (high evidence)	CFD Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Complement factor D deficiency Tags
Green List (high evidence)	CFH Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Complement factor H deficiency Autosomal recessive Tags special_consideration
Green List (high evidence)	CFI Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Complement factor I deficiency Tags
Green List (high evidence)	CFP Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Properdin deficiency, X-linked Tags
Green List (high evidence)	CFTR Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cystic fibrosis Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	CHAT Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-6 Tags special_consideration
Green List (high evidence)	CHRNA1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-1, autosomal recessive Tags special_consideration
Green List (high evidence)	CHRNA1 Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-1, autosomal dominant Tags special_consideration
Green List (high evidence)	CHRNB1 Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-2, autosomal dominant Tags special_consideration
Green List (high evidence)	CHRNB1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-2, autosomal recessive Tags special_consideration
Green List (high evidence)	CHRND Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-3, autosomal dominant Tags special_consideration
Green List (high evidence)	CHRND Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-3, autosomal recessive Tags special_consideration
Green List (high evidence)	CHRNE Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Myasthenic syndrome, congenital, 4, autosomal recessive Tags special_consideration
Green List (high evidence)	CIITA Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bare lymphocyte syndrome, type II, complementation group A Tags
Green List (high evidence)	CLCN7 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteopetrosis type 4, autosomal recessive Tags special_consideration
Green List (high evidence)	CLCN7 Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Osteopetrosis type 4, autosomal dominant Tags special_consideration
Green List (high evidence)	CLPB Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Neutropenia, severe congenital, 9, autosomal dominant Tags
Green List (high evidence)	COL13A1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-19 Tags special_consideration
Green List (high evidence)	COL1A1 Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes COL1A1 related Osteogenesis Imperfecta Tags special_consideration
Green List (high evidence)	COL1A2 Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes COL1A2 related Osteogenesis Imperfecta Tags special_consideration
Green List (high evidence)	COL4A3 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COL4A3 related autosomal recessive Alport Syndrome Tags special_consideration
Green List (high evidence)	COL4A4 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COL4A4 related autosomal recessive Alport Syndrome Tags special_consideration
Green List (high evidence)	COL4A5 Newborns main panel v0.508	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes COL4A5 related X-linked Alport Syndrome Tags special_consideration
Green List (high evidence)	COLQ Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-5 Tags special_consideration
Green List (high evidence)	COQ2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COQ2 related primary coenzyme Q10 deficiency Tags
Green List (high evidence)	COQ4 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COQ4 related primary coenzyme Q10 deficiency Tags special_consideration
Green List (high evidence)	COQ5 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COQ5 related primary coenzyme Q10 deficiency Tags
Green List (high evidence)	COQ6 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COQ6 related primary coenzyme Q10 deficiency Tags
Green List (high evidence)	COQ7 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 8 Tags
Green List (high evidence)	COQ8A Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 4 Tags
Green List (high evidence)	COQ8B Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COQ8B related primary coenzyme Q10 deficiency with nephrotic syndrome Tags
Green List (high evidence)	COQ9 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 5 Tags
Green List (high evidence)	CORO1A Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 8 Tags
Green List (high evidence)	CPS1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Carbamoyl phosphate synthetase I deficiency Tags
Green List (high evidence)	CPT1A Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Carnitine palmitoyltransferase I deficiency Tags
Green List (high evidence)	CPT2 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Carnitine palmitoyltransferase II deficiency infantile Tags special_consideration
Green List (high evidence)	CSF3R Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Severe congenital neutropenia 7 Tags
Green List (high evidence)	CTNS Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cystinosis, nephropathic Tags special_consideration
Green List (high evidence)	CTPS1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 24 Tags special_consideration
Green List (high evidence)	CUBN Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Imerslund-Grasbeck syndrome 1 Tags
Green List (high evidence)	CUL3 Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Pseudohypoaldosteronism, type IIE Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	CXCR4 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes WHIM syndrome Tags
Green List (high evidence)	CYBA Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chronic granulomatous disease 4 Tags
Green List (high evidence)	CYBB Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Chronic granulomatous disease x-linked Tags
Green List (high evidence)	CYP11A1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital adrenal insufficiency with 46XY DSD Tags special_consideration
Green List (high evidence)	CYP11B1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Tags special_consideration
Green List (high evidence)	CYP11B2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypoaldosteronism, congenital, due to CMO I deficiency Tags
Green List (high evidence)	CYP17A1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 17-alpha-hydroxylase/17,20-lyase deficiency Tags special_consideration
Green List (high evidence)	CYP24A1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypercalcemia, infantile, 1 Tags
Green List (high evidence)	CYP27A1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebrotendinous xanthomatosis Tags
Green List (high evidence)	CYP27B1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Vitamin D-dependent rickets, type I Tags
Green List (high evidence)	CYP2R1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Rickets due to defect in vitamin D 25-hydroxylation deficiency Tags
Green List (high evidence)	CYP7B1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 3 Tags special_consideration
Green List (high evidence)	DBT Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Maple syrup urine disease, type II Tags
Green List (high evidence)	DCLRE1C Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Severe combined immunodeficiency with sensitivity to ionising radiation Tags special_consideration
Green List (high evidence)	DDB2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype Tags
Green List (high evidence)	DDC Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aromatic L-amino acid decarboxylase deficiency Tags
Green List (high evidence)	DGAT1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Diarrhoea 7, protein-losing enteropathy type Tags
Green List (high evidence)	DHFR Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Megaloblastic anaemia due to dihydrofolate reductase deficiency Tags
Green List (high evidence)	DMP1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypophosphatemic rickets, AR Tags
Green List (high evidence)	DNAAF1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 13 Tags
Green List (high evidence)	DNAAF2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 10 Tags
Green List (high evidence)	DNAAF3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 2 Tags
Green List (high evidence)	DNAAF4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 25 Tags
Green List (high evidence)	DNAAF5 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 18 Tags
Green List (high evidence)	DNAH11 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary Ciliary Dyskinesia 15 Tags
Green List (high evidence)	DNAH5 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary Ciliary Dyskinesia 3 Tags
Green List (high evidence)	DNAH9 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 40 Tags
Green List (high evidence)	DNAI1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary Ciliary Dyskinesia 1 Tags
Green List (high evidence)	DNAI2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 9 Tags
Green List (high evidence)	DNAJC12 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mild non-BH4-deficient hyperphenylalaninemia Tags
Green List (high evidence)	DNAJC21 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes DNAJC21 related Shwachman-Diamond syndrome Tags
Green List (high evidence)	DNAL1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 16 Tags
Green List (high evidence)	DNMT3B Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Tags
Green List (high evidence)	DOCK2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 40 Tags
Green List (high evidence)	DOCK8 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes DOCK8 Deficiency Tags
Green List (high evidence)	DOK7 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-10 Tags special_consideration
Green List (high evidence)	DPAGT1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-13 Tags special_consideration
Green List (high evidence)	DRC1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 21 Tags
Green List (high evidence)	DUOX2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thyroid dyshormonogenesis 6 Tags
Green List (high evidence)	DUOXA2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thyroid dyshormonogenesis 5 Tags
Green List (high evidence)	EDA Newborns main panel v0.508	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked Tags special_consideration
Green List (high evidence)	EDAR Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Tags special_consideration
Green List (high evidence)	EDAR Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Tags special_consideration
Green List (high evidence)	EDARADD Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant Tags special_consideration
Green List (high evidence)	EDARADD Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive Tags special_consideration
Green List (high evidence)	EFL1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Shwachman-Diamond syndrome 2 Tags
Green List (high evidence)	EIF2AK3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes multiple epiphyseal dysplasia with early onset diabetes mellitus, Wolcott-Rallison syndrome Tags
Green List (high evidence)	ELANE Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Neutropenia, severe congenital 1, autosomal dominant Tags
Green List (high evidence)	ENPP1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Arterial calcification, generalized, of infancy, 1 Tags
Green List (high evidence)	ERCC2 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group D Tags special_consideration
Green List (high evidence)	ERCC3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group B Tags
Green List (high evidence)	ERCC4 Newborns additional phenotypes panel 1 v0.114	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group F Tags
Green List (high evidence)	ERCC5 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group G Tags
Green List (high evidence)	ETFA Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutaric acidaemia type IIA Tags
Green List (high evidence)	ETFB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutaric acidaemia type IIB Tags
Green List (high evidence)	ETFDH Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutaric acidaemia type IIC Tags
Green List (high evidence)	F10 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Factor X deficiency Tags
Green List (high evidence)	F13A1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Factor XIIIA deficiency Tags
Green List (high evidence)	F13B Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Factor XIIIB deficiency Tags
Green List (high evidence)	F2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital Prothrombin deficiency Tags
Green List (high evidence)	F5 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Factor V deficiency Tags
Green List (high evidence)	F7 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Factor VII deficiency Tags special_consideration
Green List (high evidence)	F8 Newborns main panel v0.508	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Haemophilia A Tags special_consideration
Green List (high evidence)	F9 Newborns main panel v0.508	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Haemophilia B Tags special_consideration
Green List (high evidence)	FAH Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Tyrosinemia, type I Tags
Green List (high evidence)	FAM111A Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Kenny-Caffey syndrome, type 2 Tags
Green List (high evidence)	FBP1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fructose-1,6-bisphosphatase deficiency Tags
Green List (high evidence)	FCHO1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 76 Tags
Green List (high evidence)	FECH Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Protoporphyria, erythropoietic, 1 Tags special_consideration
Green List (high evidence)	FERMT3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukocyte adhesion deficiency, type III Tags
Green List (high evidence)	FGA Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes FGA related afibrinogenaemia Tags
Green List (high evidence)	FGB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes FGB related afibrinogenaemia Tags
Green List (high evidence)	FGF23 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 2 Tags special_consideration
Green List (high evidence)	FGF23 Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Hypophosphatemic rickets, autosomal dominant Tags special_consideration
Green List (high evidence)	FGG Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes FGG related afibrinogenaemia Tags
Green List (high evidence)	FKBP10 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type XI Tags special_consideration
Green List (high evidence)	FLAD1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency Tags
Green List (high evidence)	FOLR1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Neurodegeneration due to cerebral folate transport deficiency Tags
Green List (high evidence)	FOXE1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bamforth-Lazarus syndrome Tags
Green List (high evidence)	FOXJ1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ciliary dyskinesia, primary, 43 Tags
Green List (high evidence)	FOXN1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy Tags special_consideration
Green List (high evidence)	FOXP3 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes X-linked immunodysregulation, polyendocrinopathy, and enteropathy Tags
Green List (high evidence)	G6PC Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease type Ia Tags new-gene-name
Green List (high evidence)	G6PC3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Severe congenital neutropenia 4 Tags
Green List (high evidence)	GAA Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease type II Tags special_consideration
Green List (high evidence)	GALE Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Galactose epimerase deficiency Tags
Green List (high evidence)	GALK1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Galactokinase deficiency with cataracts Tags
Green List (high evidence)	GALNS Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucopolysaccharidosis Type IVA Tags
Green List (high evidence)	GALNT3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 1 Tags
Green List (high evidence)	GALT Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Galactosaemia Tags
Green List (high evidence)	GAMT Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebral creatine deficiency syndrome 2 Tags special_consideration
Green List (high evidence)	GAS8 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 33 Tags new-gene-name
Green List (high evidence)	GATA3 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia Tags
Green List (high evidence)	GATM Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebral creatine deficiency syndrome 3 Tags special_consideration
Green List (high evidence)	GCDH Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutaric aciduria, type I Tags
Green List (high evidence)	GCK Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Diabetes mellitus, permanent neonatal 1 Tags special_consideration
Green List (high evidence)	GCK Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Familial hyperinsulinemic hypoglycemia-3 Tags special_consideration
Green List (high evidence)	GCM2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes familial isolated hypoparathyroidism 2, Autosomal Recessive Tags
Green List (high evidence)	GFI1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Severe congenital neutropenia 2 Tags
Green List (high evidence)	GFPT1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-12 Tags special_consideration
Green List (high evidence)	GH1 Newborns additional phenotypes panel 1 v0.114	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Isolated growth hormone deficiency type 1B, autosomal recessive Tags special_consideration
Green List (high evidence)	GH1 Newborns additional phenotypes panel 2 v0.31	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Isolated growth hormone deficiency type II, autosomal dominant Tags special_consideration
Green List (high evidence)	GH1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Isolated growth hormone deficiency type 1A, autosomal recessive Tags special_consideration
Green List (high evidence)	GHR Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Growth hormone receptor deficiency Tags
Green List (high evidence)	GHRHR Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Isolated growth hormone deficiency type 4 Tags
Green List (high evidence)	GIF Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intrinsic factor deficiency Tags new-gene-name
Green List (high evidence)	GLIS3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism Tags
Green List (high evidence)	GLUD1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Hyperinsulinism-hyperammonaemia syndrome Tags
Green List (high evidence)	GNRH1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypogonadotropic hypogonadism 12 with or without anosmia Tags
Green List (high evidence)	GP1BA Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bernard-Soulier syndrome, type A1 (recessive) Tags special_consideration
Green List (high evidence)	GP1BB Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bernard-Soulier syndrome, type B Tags special_consideration
Green List (high evidence)	GP9 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bernard-Soulier syndrome, type C Tags special_consideration
Green List (high evidence)	GPIHBP1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperlipoproteinemia, type 1D Tags
Green List (high evidence)	GPR101 Newborns main panel v0.508	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Growth hormone-secreting pituitary adenoma-2 Tags gene-duplication special_consideration
Green List (high evidence)	GRHPR Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperoxaluria, primary, type II Tags
Green List (high evidence)	GUSB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucopolysaccharidosis type VII Tags
Green List (high evidence)	HADH Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Familial hyperinsulinemic hypoglycemia-4 Tags
Green List (high evidence)	HADHA Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LCHAD deficiency Tags
Green List (high evidence)	HADHB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial trifunctional protein deficiency 2 Tags
Green List (high evidence)	HAX1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Neutropenia, severe congenital 3, autosomal recessive Tags
Green List (high evidence)	HBB Newborns additional phenotypes panel 1 v0.114	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sickle Cell Disease Tags special_consideration
Green List (high evidence)	HBB Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Beta Thalassaemia Tags special_consideration
Green List (high evidence)	HELLS Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 4 Tags
Green List (high evidence)	HESX1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pituitary hormone deficiency, combined, 5 Tags
Green List (high evidence)	HK1 Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes HK1 related hyperinsulinism Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	HLCS Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Holocarboxylase synthetase deficiency Tags
Green List (high evidence)	HMGCL Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HMG-CoA lyase deficiency Tags
Green List (high evidence)	HMGCS2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HMG-CoA synthase-2 deficiency Tags
Green List (high evidence)	HOGA1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperoxaluria, primary, type III Tags
Green List (high evidence)	HSD11B2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Apparent mineralocorticoid excess Tags
Green List (high evidence)	HSD3B2 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency Tags special_consideration
Green List (high evidence)	HSD3B7 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 1 Tags
Green List (high evidence)	HYDIN Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 5 Tags
Green List (high evidence)	IDS Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Mucopolysaccharidosis Type II Tags
Green List (high evidence)	IDUA Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucopolysaccharidosis Type I Tags special_consideration
Green List (high evidence)	IFITM5 Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Osteogenesis Imperfecta type V Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	IFNGR1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 27A, mycobacteriosis, autosomal recessive Tags special_consideration
Green List (high evidence)	IFNGR1 Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Immunodeficiency 27A, mycobacteriosis, Autosomal dominant Tags special_consideration
Green List (high evidence)	IFNGR2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 28, mycobacteriosis Tags
Green List (high evidence)	IGF1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Insulin-like growth factor I deficiency Tags
Green List (high evidence)	IGHM Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Agammaglobulinaemia 1 Tags
Green List (high evidence)	IGLL1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Agammaglobulinaemia 2 Tags
Green List (high evidence)	IGSF1 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Hypothyroidism, central, and testicular enlargement Tags
Green List (high evidence)	IKBKB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 15B Tags
Green List (high evidence)	IL10 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Interleukin-10 deficiency Tags
Green List (high evidence)	IL10RA Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Inflammatory bowel disease 28 Tags
Green List (high evidence)	IL10RB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Inflammatory bowel disease 25 Tags
Green List (high evidence)	IL12B Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 29, mycobacteriosis Tags
Green List (high evidence)	IL12RB1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 30 Tags
Green List (high evidence)	IL2RA Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 41 with lymphoproliferation and autoimmunity Tags
Green List (high evidence)	IL2RB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 63 with lymphoproliferation and autoimmunity Tags
Green List (high evidence)	IL2RG Newborns main panel v0.508	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes SCID X-Linked Tags special_consideration
Green List (high evidence)	IL7R Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 104, severe combined Tags special_consideration
Green List (high evidence)	INS Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autosomal recessive diabetes mellitus, permanent neonatal 4 Tags special_consideration
Green List (high evidence)	INS Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Autosomal dominant diabetes mellitus, permanent neonatal 4 Tags special_consideration
Green List (high evidence)	IRAK4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes IRAK4 deficiency Tags
Green List (high evidence)	IRF8 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 32B Tags
Green List (high evidence)	IRS4 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 9 Tags
Green List (high evidence)	ITCH Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autoimmune disease, multisystem, with facial dysmorphism Tags
Green List (high evidence)	ITGA2B Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glanzmann thrombasthenia 1 Tags special_consideration
Green List (high evidence)	ITGB2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukocyte adhesion deficiency, type I Tags
Green List (high evidence)	ITGB3 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glanzmann thrombasthenia 2 Tags special_consideration
Green List (high evidence)	ITK Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lymphoproliferative syndrome 1 Tags
Green List (high evidence)	IVD Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Isovaleric acidaemia Tags
Green List (high evidence)	IYD Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thyroid dyshormonogenesis 4 Tags
Green List (high evidence)	JAGN1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Severe congenital neutropenia 6 Tags
Green List (high evidence)	JAK3 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes JAK3 related T cell-negative, B cell-positive, natural killer cell-negative severe combined immunodeficiency Tags special_consideration
Green List (high evidence)	KCNJ1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bartter syndrome, type 2 Tags
Green List (high evidence)	KCNJ11 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Familial hyperinsulinemic hypoglycemia-2, autosomal recessive Tags special_consideration
Green List (high evidence)	KCNJ11 Newborns additional phenotypes panel 2 v0.31	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diabetes, permanent neonatal 2, with or without neurologic features Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	KDELR2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type XXI Tags special_consideration
Green List (high evidence)	KISS1R Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypogonadotropic hypogonadism 8 with or without anosmia Tags
Green List (high evidence)	KLHL3 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pseudohypoaldosteronism, type IID, autosomal recessive Tags special_consideration
Green List (high evidence)	KLHL3 Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Pseudohypoaldosteronism, type IID, autosomal dominant Tags special_consideration
Green List (high evidence)	LAT Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 52 Tags
Green List (high evidence)	LCK Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes immunodeficiency 22 Tags
Green List (high evidence)	LCT Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lactase deficiency, congenital Tags
Green List (high evidence)	LDLR Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homozygous Familial hypercholesterolaemia-1 Tags special_consideration
Green List (high evidence)	LDLRAP1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homozygous Familial hypercholesterolaemia-4 Tags
Green List (high evidence)	LEP Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leptin deficiency Tags
Green List (high evidence)	LEPR Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leptin receptor deficiency Tags special_consideration
Green List (high evidence)	LHX3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pituitary hormone deficiency, combined, 3 Tags
Green List (high evidence)	LIG1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LIG1 associated immunodeficiency Tags
Green List (high evidence)	LIG4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LIG4 Syndrome Tags
Green List (high evidence)	LIPA Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lysosomal acid lipase deficiency Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	LMBRD1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblF type Tags
Green List (high evidence)	LMF1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipase deficiency, combined Tags
Green List (high evidence)	LPIN1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Myoglobinuria, acute recurrent Tags
Green List (high evidence)	LPL Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipoprotein lipase deficiency Tags
Green List (high evidence)	LRP5 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteoporosis-pseudoglioma syndrome Tags special_consideration
Green List (high evidence)	LRRC56 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 39 Tags
Green List (high evidence)	LRRC6 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 19 Tags new-gene-name
Green List (high evidence)	LYST Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chediak-Higashi Syndrome Tags
Green List (high evidence)	MAGT1 Newborns main panel v0.508	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes X-linked Immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Tags special_consideration
Green List (high evidence)	MAN2B1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Alpha-mannosidosis Tags
Green List (high evidence)	MC2R Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MC2R familial glucocorticoid deficiency Tags
Green List (high evidence)	MCEE Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonyl-CoA epimerase deficiency Tags
Green List (high evidence)	MCIDAS Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ciliary dyskinesia, primary, 42 Tags
Green List (high evidence)	MCM4 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 54 Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	MESD Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type XX Tags special_consideration
Green List (high evidence)	MMAA Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria, vitamin B12-responsive, cblA type Tags
Green List (high evidence)	MMAB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria, vitamin B12-responsive, cblB type Tags
Green List (high evidence)	MMACHC Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblC type Tags
Green List (high evidence)	MMADHC Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblD type Tags special_consideration
Green List (high evidence)	MMADHC Newborns additional phenotypes panel 1 v0.114	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria, cblD type, variant 2 Tags special_consideration
Green List (high evidence)	MPI Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mannose Phosphate Isomerase (MPI) - Congenital Disorders of Glycosylation Tags
Green List (high evidence)	MPL Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital amegakaryocytic thrombocytopenia Tags
Green List (high evidence)	MRAP Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MRAP familial glucocorticoid deficiency type 2 Tags
Green List (high evidence)	MSN Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Immunodeficiency 50 Tags
Green List (high evidence)	MTHFD1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinaemia Tags
Green List (high evidence)	MTHFR Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homocystinuria due to MTHFR deficiency Tags
Green List (high evidence)	MTR Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homocystinuria-megaloblastic anaemia, cblG complementation type Tags
Green List (high evidence)	MTRR Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homocystinuria-megaloblastic anaemia, cbl E type Tags
Green List (high evidence)	MTTP Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Abetalipoproteinaemia Tags
Green List (high evidence)	MUSK Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-9 Tags special_consideration
Green List (high evidence)	MUT Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic acidemia, mut(0) type Tags new-gene-name
Green List (high evidence)	MYD88 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 68 Tags
Green List (high evidence)	MYSM1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bone marrow failure syndrome 4 Tags
Green List (high evidence)	NAGS Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes N-acetylglutamate synthase deficiency Tags special_consideration
Green List (high evidence)	NBN Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nijmegen breakage syndrome Tags
Green List (high evidence)	NCF2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chronic granulomatous disease 3 Tags
Green List (high evidence)	NCF4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chronic granulomatous disease 2 Tags
Green List (high evidence)	NEUROD1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes NEUROD1 related autosomal recessive neonatal diabetes Tags
Green List (high evidence)	NEUROG3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Diarrhoea 4, malabsorptive, congenital Tags
Green List (high evidence)	NFKBIA Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Ectodermal dysplasia and immunodeficiency 2 Tags
Green List (high evidence)	NHEJ1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Tags
Green List (high evidence)	NLRP3 Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Cryopyrin associated periodic fever syndrome Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	NNT Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency Tags
Green List (high evidence)	NR0B1 Newborns main panel v0.508	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Adrenal hypoplasia, congenital Tags special_consideration
Green List (high evidence)	NR3C2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Pseudohypoaldosteronism type I, autosomal dominant Tags
Green List (high evidence)	NR5A1 Newborns additional phenotypes panel 1 v0.114	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes NR5A1 associated adrenocortical insufficiency Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	NR5A1 Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes NR5A1 associated adrenocortical insufficiency Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	OAS1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes OAS1 related polymorphic autoinflammatory immunodeficiency Tags
Green List (high evidence)	OAT Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia Tags
Green List (high evidence)	OTC Newborns main panel v0.508	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Ornithine transcarbamylase deficiency Tags special_consideration
Green List (high evidence)	OTOF Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Auditory neuropathy, autosomal recessive, 1 Tags special_consideration
Green List (high evidence)	OXCT1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency Tags
Green List (high evidence)	PAH Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PAH-related disorder Tags special_consideration
Green List (high evidence)	PAX1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Otofaciocervical syndrome 2 Tags
Green List (high evidence)	PAX8 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Tags
Green List (high evidence)	PCCA Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Propionic acidemia 1 Tags
Green List (high evidence)	PCCB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Propionic acidemia 2 Tags
Green List (high evidence)	PCK1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Phosphoenolpyruvate carboxykinase deficiency, cytosolic Tags
Green List (high evidence)	PCSK1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Endocrinopathy due to proprotein convertase 1/3 deficiency Tags
Green List (high evidence)	PCSK9 Newborns additional phenotypes panel 1 v0.114	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Familial hypercholesterolaemia-3 Autosomal Recessive Tags special_consideration
Green List (high evidence)	PDHA1 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Pyruvate dehydrogenase E1-alpha deficiency Tags special_consideration
Green List (high evidence)	PDSS1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 2 Tags
Green List (high evidence)	PDSS2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 3 Tags
Green List (high evidence)	PGM1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type It Tags
Green List (high evidence)	PHEX Newborns main panel v0.508	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Hypophosphatemic rickets, X-linked dominant Tags special_consideration
Green List (high evidence)	PHKA2 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Glycogen storage disease, type IXa1 Tags
Green List (high evidence)	PHKG2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease IXc Tags
Green List (high evidence)	PIH1D3 Newborns main panel v0.508	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 36, X-linked Tags new-gene-name
Green List (high evidence)	PIK3R1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Agammaglobulinaemia 7 Tags
Green List (high evidence)	PKLR Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pyruvate kinase deficiency Tags
Green List (high evidence)	PLOD2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bruck Syndrome 2 Tags
Green List (high evidence)	PLPBP Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Vitamin B6-dependent epilepsy Tags
Green List (high evidence)	PLS3 Newborns main panel v0.508	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Bone mineral density QTL18, osteoporosis Tags
Green List (high evidence)	PMM2 Newborns additional phenotypes panel 1 v0.114	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polycystic kidney disease with hyperinsulinemic hypoglycemia Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	PNP Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency Tags
Green List (high evidence)	PNPO Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pyridoxamine 5’-phosphate oxidase deficiency Tags
Green List (high evidence)	POLA1 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Pigmentary disorder, reticulate, with systemic manifestations, X-linked Tags
Green List (high evidence)	POLE Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes IMAGE-I syndrome Tags special_consideration
Green List (high evidence)	POLH Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, variant type Tags
Green List (high evidence)	POMC Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency Tags
Green List (high evidence)	POR Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes cytochrome P450 oxidoreductase deficiency Tags special_consideration
Green List (high evidence)	POU1F1 Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Pituitary hormone deficiency, combined or isolated, 1, autosomal dominant Tags special_consideration
Green List (high evidence)	POU1F1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pituitary hormone deficiency, combined or isolated, 1, autosomal recessive Tags special_consideration
Green List (high evidence)	PPOX Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homozygous Variegate Porphyria Tags
Green List (high evidence)	PREPL Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-22 Tags special_consideration
Green List (high evidence)	PRF1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Haemophagocytic lymphohistiocytosis, familial, 2 Tags
Green List (high evidence)	PRKDC Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 26, with or without neurologic abnormalities Tags
Green List (high evidence)	PROK2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypogonadotropic hypogonadism 4 with or without anosmia Tags
Green List (high evidence)	PROKR2 Newborns additional phenotypes panel 1 v0.114	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia, autosomal recessive Tags special_consideration
Green List (high evidence)	PROP1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined Pituitary hormone deficiency 2 Tags
Green List (high evidence)	PSTPIP1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes PSTPIP1 associated inflammatory disease Tags
Green List (high evidence)	PTF1A Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pancreatic agenesis 2 Tags
Green List (high evidence)	PTH Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes familial isolated hypoparathyroidism 1, autosomal recessive Tags
Green List (high evidence)	PTPRC Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 105, severe combined Tags
Green List (high evidence)	PTS Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency Tags
Green List (high evidence)	PYGL Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease VI Tags
Green List (high evidence)	QDPR Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphenylalaninemia due to dihydropteridine reductase deficiency Tags
Green List (high evidence)	RAB27A Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Griscelli syndrome, type 2 Tags
Green List (high evidence)	RAC2 Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Immunodeficiency 73B Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	RAG1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes RAG1 related severe combined immunodeficiency, B cell-negative Tags special_consideration
Green List (high evidence)	RAG2 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes RAG2 related severe combined immunodeficiency, B cell-negative Tags special_consideration
Green List (high evidence)	RAPSN Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-11 Tags special_consideration
Green List (high evidence)	RASGRP1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 64 Tags
Green List (high evidence)	RB1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Retinoblastoma Tags
Green List (high evidence)	REST Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Wilms tumour predisposition Tags
Green List (high evidence)	RET Newborns main panel v0.508	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Multiple endocrine neoplasia II Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	RFX5 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bare lymphocyte syndrome, type II, complementation group C Tags
Green List (high evidence)	RFXANK Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bare lymphocyte syndrome, type II, complementation group B Tags
Green List (high evidence)	RFXAP Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bare lymphocyte syndrome, type II, complementation group D Tags
Green List (high evidence)	RNPC3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes RNPC3 associated growth hormone deficiency Tags
Green List (high evidence)	RPE65 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes RPE65 associated Leber congenital amaurosis, early-onset severe retinal dystrophy Tags special_consideration
Green List (high evidence)	RPL11 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 7 Tags
Green List (high evidence)	RPL15 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 12 Tags
Green List (high evidence)	RPL26 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 11 Tags
Green List (high evidence)	RPL35A Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 5 Tags
Green List (high evidence)	RPL5 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond blackfan anaemia 6 Tags
Green List (high evidence)	RPS10 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 9 Tags
Green List (high evidence)	RPS17 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 4 Tags
Green List (high evidence)	RPS19 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond blackfan anaemia 1 Tags
Green List (high evidence)	RPS24 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-blackfan anaemia 3 Tags
Green List (high evidence)	RPS26 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 10 Tags
Green List (high evidence)	RPS29 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 13 Tags
Green List (high evidence)	RPS7 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 8 Tags
Green List (high evidence)	RPSA Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Asplenia, isolated congenital Tags
Green List (high evidence)	RSPH1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 24 Tags
Green List (high evidence)	RSPH3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 32 Tags
Green List (high evidence)	RSPH4A Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 11 Tags
Green List (high evidence)	RSPH9 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 12 Tags
Green List (high evidence)	SAMD9 Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes MIRAGE syndrome Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	SAR1B Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chylomicron retention disease Tags
Green List (high evidence)	SBDS Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Shwachman-Diamond syndrome 1 Tags special_consideration
Green List (high evidence)	SCN4A Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-16 Tags special_consideration
Green List (high evidence)	SCNN1A Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SCNN1A related pseudohypoaldosteronism Type 1A Tags
Green List (high evidence)	SCNN1B Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SCNN1B related pseudohypoaldosteronism Type 1A Tags
Green List (high evidence)	SCNN1G Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SCNN1G related pseudohypoaldosteronism Type 1A Tags
Green List (high evidence)	SERPINF1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type VI Tags special_consideration
Green List (high evidence)	SERPINH1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type X Tags special_consideration
Green List (high evidence)	SGPL1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 14 Tags
Green List (high evidence)	SH2D1A Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes X-linked lymphoproliferative syndrome 1 Tags
Green List (high evidence)	SI Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital sucrase-isomaltase deficiency Tags
Green List (high evidence)	SKIV2L Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Trichohepatoenteric syndrome 2 Tags new-gene-name special_consideration
Green List (high evidence)	SLC12A1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bartter syndrome, type 1 Tags
Green List (high evidence)	SLC18A3 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-21 Tags special_consideration
Green List (high evidence)	SLC19A1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Folate dependent megaloblastic anaemia Tags
Green List (high evidence)	SLC19A2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thiamine Repsonsive Megaloblastic Anaemia Syndrome Tags
Green List (high evidence)	SLC19A3 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Biotin- or thiamine-responsive encephalopathy type 2 caused by SLC19A3 thiamine transporter deficiency Tags special_consideration
Green List (high evidence)	SLC22A5 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary systemic carnitine deficiency Tags
Green List (high evidence)	SLC25A1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-23 Tags special_consideration
Green List (high evidence)	SLC25A13 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Citrullinemia, type II, neonatal-onset Tags
Green List (high evidence)	SLC25A15 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Tags
Green List (high evidence)	SLC25A20 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Carnitine-acylcarnitine translocase deficiency Tags
Green List (high evidence)	SLC26A7 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thyroid dyshormonigenesis (no phenotype on OMIM) Tags special_consideration
Green List (high evidence)	SLC2A1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUT1 deficiency syndrome-1, Autosomal Recessive Tags special_consideration
Green List (high evidence)	SLC2A1 Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes GLUT1 deficiency syndrome-1, Autosomal Dominant Tags special_consideration
Green List (high evidence)	SLC30A10 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypermanganesaemia with dystonia 1 Tags
Green List (high evidence)	SLC34A1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypercalcemia, infantile, 2 Tags
Green List (high evidence)	SLC34A3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypophosphatemic rickets with hypercalciuria Tags
Green List (high evidence)	SLC37A4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease type Ib and 1c Tags
Green List (high evidence)	SLC39A4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Acrodermatitis enteropathica Tags
Green List (high evidence)	SLC39A7 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SLC39A7 associated Agammaglobulinaemia Tags
Green List (high evidence)	SLC46A1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hereditary folate malabsorption Tags
Green List (high evidence)	SLC4A1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Distal renal tubular acidosis type 4 with hemolytic anaemia, autosomal recessive Tags special_consideration
Green List (high evidence)	SLC4A1 Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Distal renal tubular acidosis type 1, autosomal dominant Tags special_consideration
Green List (high evidence)	SLC52A2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome 2) Tags
Green List (high evidence)	SLC52A3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome 1) Tags
Green List (high evidence)	SLC5A1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glucose/galactose malabsorption Tags
Green List (high evidence)	SLC5A5 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thyroid dyshormonigenesis 1 Tags
Green List (high evidence)	SLC5A7 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-20 Tags special_consideration
Green List (high evidence)	SLC7A7 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lysinuric protein intolerance Tags
Green List (high evidence)	SMARCD2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Specific granule deficiency 2 Tags
Green List (high evidence)	SMN1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinal Muscular Atrophy Tags special_caller_only special_consideration
Green List (high evidence)	SNX10 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteopetrosis type 8 Tags
Green List (high evidence)	SP110 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hepatic venoocclusive disease with immunodeficiency Tags
Green List (high evidence)	SPAG1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary Ciliary Dyskinesia 28 Tags
Green List (high evidence)	SPARC Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type XVII Tags special_consideration
Green List (high evidence)	SPPL2A Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 86, mycobacteriosis Tags
Green List (high evidence)	SRP54 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes SRP54 related Shwachman-Diamond syndrome Tags
Green List (high evidence)	STAR Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes STAR deficiency (congenital lipoid hyperplasia) Tags special_consideration
Green List (high evidence)	STAT1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 31B Tags
Green List (high evidence)	STAT2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 44 Tags
Green List (high evidence)	STAT3 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Hyper IgE recurrent infection syndrome Tags
Green List (high evidence)	STAT5B Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Tags
Green List (high evidence)	STK4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes STK4 associated T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations Tags
Green List (high evidence)	STX11 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Haemophagocytic lymphohistiocytosis, familial, 4 Tags
Green List (high evidence)	STXBP2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Familial haemophagocytic lymphohistiocytosis-5 Tags
Green List (high evidence)	SYT2 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome 7, autosomal recessive Tags special_consideration
Green List (high evidence)	SYT2 Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome 7, autosomal dominant Tags special_consideration
Green List (high evidence)	TACR3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypogonadotropic hypogonadism 11 with or without anosmia Tags
Green List (high evidence)	TAP1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes TAP1 related bare lymphocyte syndrome Tags
Green List (high evidence)	TAP2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes TAP2 related bare lymphocyte syndrome Tags
Green List (high evidence)	TAPBP Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MHC class I deficiency 3 Tags
Green List (high evidence)	TAT Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Tyrosinemia, type II Tags
Green List (high evidence)	TAZ Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Barth Syndrome Tags new-gene-name
Green List (high evidence)	TBL1X Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 8 Tags
Green List (high evidence)	TBX19 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Adrenocorticotropic hormone deficiency Tags
Green List (high evidence)	TCF3 Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Agammaglobulinaemia 8, autosomal dominant Tags special_consideration
Green List (high evidence)	TCF3 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Agammaglobulinaemia 8, autosomal recessive Tags special_consideration
Green List (high evidence)	TCIRG1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteopetrosis type 1 Tags
Green List (high evidence)	TCN2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Transcobalamin II deficiency Tags
Green List (high evidence)	TF Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Atransferrinaemia Tags
Green List (high evidence)	TFRC Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 46 Tags
Green List (high evidence)	TG Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thyroid dyshormonogenesis 3 Tags
Green List (high evidence)	TH Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dopa-responsive dystonia due to tyrosine hydroxylase deficiency Tags
Green List (high evidence)	THRA Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Resistance to thyroid hormone alpha (OMIM: Hypothyroidism, congenital, nongoitrous, 6) Tags
Green List (high evidence)	THRB Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thyroid hormone resistance, autosomal recessive Tags special_consideration
Green List (high evidence)	THRB Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Thyroid hormone resistance, autosomal dominant Tags special_consideration
Green List (high evidence)	TJP2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 4 Tags
Green List (high evidence)	TLR3 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Immunodeficiency 83 dominant loss of function Tags
Green List (high evidence)	TLR3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 83 recessive loss of function Tags
Green List (high evidence)	TLR3 Newborns additional phenotypes panel 2 v0.31	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Immunodeficiency 83 dominant negative Tags
Green List (high evidence)	TMEM38B Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type XIV Tags special_consideration
Green List (high evidence)	TNFRSF11A Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteopetrosis type 7 Tags
Green List (high evidence)	TNFRSF11B Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Paget disease of bone 5, juvenile-onset Tags
Green List (high evidence)	TPK1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thiamine Pyrophosphokinase Deficiency Tags
Green List (high evidence)	TPO Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thyroid dyshormonogenesis 2A Tags
Green List (high evidence)	TRAC Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 7 Tags
Green List (high evidence)	TRHR Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 7 Tags
Green List (high evidence)	TRIM28 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes TRIM28 related Wilms tumour predisposition Tags
Green List (high evidence)	TRPM6 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypomagnesemia 1, intestinal Tags
Green List (high evidence)	TSHB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous 4 Tags
Green List (high evidence)	TSHR Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 1 Tags
Green List (high evidence)	TTC25 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 35 Tags new-gene-name
Green List (high evidence)	TTC37 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Trichohepatoenteric syndrome 1 Tags new-gene-name special_consideration
Green List (high evidence)	TTC7A Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Gastrointestinal defects and immunodeficiency syndrome Tags
Green List (high evidence)	TTPA Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ataxia with vitamin E deficiency Tags
Green List (high evidence)	UGT1A1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Crigler-Najjar syndrome Type I Tags
Green List (high evidence)	UMPS Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Orotic aciduria Tags
Green List (high evidence)	UNC13D Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Haemophagocytic lymphohistiocytosis, familial, 3 Tags
Green List (high evidence)	UNG Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency with hyper IgM, type 5 Tags
Green List (high evidence)	UROD Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Porphyria, hepatoerythropoietic Tags
Green List (high evidence)	UROS Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital erythropoietic porphyria Tags
Green List (high evidence)	USB1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Poikiloderma with neutropenia Tags
Green List (high evidence)	USP53 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss Tags
Green List (high evidence)	VAMP1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-25 Tags special_consideration
Green List (high evidence)	VDR Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Rickets, vitamin D-resistant, type IIA Tags special_consideration
Green List (high evidence)	VPS45 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Severe congenital neutropenia 5 Tags
Green List (high evidence)	WAS Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Wiskott Aldrich syndrome Tags
Green List (high evidence)	WNK1 Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Pseudohypoaldosteronism, type IIC Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	WNT1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type XV Tags special_consideration
Green List (high evidence)	WT1 Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Wilms Tumour type 1/ Denys-Drash syndrome Tags special_consideration
Green List (high evidence)	XIAP Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes X-Linked inhibitor of apoptosis protein Tags
Green List (high evidence)	XPA Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group A Tags
Green List (high evidence)	XPC Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group C Tags
Green List (high evidence)	ZAP70 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 48, severe combined Tags
Green List (high evidence)	ZBTB24 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2 Tags
Green List (high evidence)	ZFYVE19 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic, 9 Tags
Green List (high evidence)	ZMYND10 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 22 Tags
Green List (high evidence)	ZNFX1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 91 and hyperinflammation Tags
Amber List (moderate evidence)	ABCC8 Newborns additional phenotypes panel 2 v0.31	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Diabetes mellitus, permanent neonatal 3, with or without neurologic features, autosomal dominant Tags
Amber List (moderate evidence)	ABCC9 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes ABCC9 associated hypertrichotic osteochondrodysplasia Tags
Amber List (moderate evidence)	ABCG5 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Sitosterolemia 1 Tags
Amber List (moderate evidence)	ABCG8 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Sitosterolemia 2 Tags
Amber List (moderate evidence)	ACVR1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Fibrodysplasia ossificans progressiva Tags
Amber List (moderate evidence)	ADAR Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 6, autosomal dominant Tags
Amber List (moderate evidence)	ADAR Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 6, autosomal recessive Tags
Amber List (moderate evidence)	AHCY Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Tags
Amber List (moderate evidence)	AKT2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hypoinsulinemic hypoglycemia Tags
Amber List (moderate evidence)	ALAD Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Porphyria, acute hepatic Tags
Amber List (moderate evidence)	ALAS2 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Anemia, sideroblastic, 1 Tags
Amber List (moderate evidence)	ALDH4A1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hyperprolinemia, type II Tags
Amber List (moderate evidence)	ALK Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes ALK-related neuroblastic tumor susceptibility Tags
Amber List (moderate evidence)	ALPL Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Autosomal dominant hypophosphatasia Tags
Amber List (moderate evidence)	APOA5 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hyperchylomicronemia, late-onset Tags
Amber List (moderate evidence)	APOB Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hypercholesterolaemia, familial, 2 Tags
Amber List (moderate evidence)	APOE Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Apolipoprotein (apo) E Leu167del variant Tags
Amber List (moderate evidence)	APPL1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Maturity-onset diabetes of the young, type 14 Tags
Amber List (moderate evidence)	ARMC5 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes ACTH-independent macronodular adrenal hyperplasia 2 Tags
Amber List (moderate evidence)	ATP7A Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Menkes disease Tags
Amber List (moderate evidence)	BCL10 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes immunodeficiency 37 Tags
Amber List (moderate evidence)	BRCA1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group S Tags
Amber List (moderate evidence)	BRCA2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group D1 Tags
Amber List (moderate evidence)	BRIP1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group J Tags
Amber List (moderate evidence)	BSND Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Bartter syndrome, type 4a Tags
Amber List (moderate evidence)	C1QA Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes C1QA associated C1q deficiency Tags
Amber List (moderate evidence)	C1QB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes C1QB associated C1q deficiency Tags
Amber List (moderate evidence)	C1QC Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes C1QC associated C1q deficiency Tags
Amber List (moderate evidence)	C3 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 5 Tags
Amber List (moderate evidence)	CA12 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Isolated hyperchlorhidrosis Tags
Amber List (moderate evidence)	CACNA1A Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Episodic ataxia, type 2 Tags
Amber List (moderate evidence)	CACNA1C Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Long QT Syndrome 8 Tags
Amber List (moderate evidence)	CACNA1C Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Timothy Syndrome Tags
Amber List (moderate evidence)	CACNA1D Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities Tags
Amber List (moderate evidence)	CACNA1H Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hyperaldosteronism, familial, type IV Tags
Amber List (moderate evidence)	CACNA1S Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hypokalemic periodic paralysis type 1 Tags
Amber List (moderate evidence)	CALM1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Long QT Syndrome 14 and Catecholaminergic polymorphic ventricular tachycardia Tags
Amber List (moderate evidence)	CALM2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Long QT Syndrome 15 and Catecholaminergic polymorphic ventricular tachycardia Tags
Amber List (moderate evidence)	CALM3 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Long QT Syndrome 16 and Catecholaminergic polymorphic ventricular tachycardia Tags
Amber List (moderate evidence)	CARD11 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 11A Tags
Amber List (moderate evidence)	CARD11 Newborns additional phenotypes panel 2 v0.31	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Immunodeficiency 11B with atopic dermatitis Tags
Amber List (moderate evidence)	CARD11 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes B-cell expansion with NFKB and T-cell anergy Tags
Amber List (moderate evidence)	CARD14 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pityriasis rubra pilaris Tags
Amber List (moderate evidence)	CASQ2 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2 Tags internal_inclusion_list_only
Amber List (moderate evidence)	CASR Newborns additional phenotypes panel 3 v0.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Autosomal dominant hypocalcemia 1 Tags
Amber List (moderate evidence)	CAV1 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Lipodystrophy, familial partial, type 7 Tags
Amber List (moderate evidence)	CD19 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Common variable immune deficiency 3 Tags
Amber List (moderate evidence)	CD27 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immune dysregulation 2 Tags
Amber List (moderate evidence)	CD320 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Methylmalonic aciduria, transient, due to transcobalamin receptor defect Tags
Amber List (moderate evidence)	CD46 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 2, autosomal dominant Tags
Amber List (moderate evidence)	CD46 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 2, autosomal recessive Tags
Amber List (moderate evidence)	CD55 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy Tags
Amber List (moderate evidence)	CD81 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Common variable immune deficiency 6 Tags
Amber List (moderate evidence)	CEL Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Maturity-onset diabetes of the young, type VIII Tags
Amber List (moderate evidence)	CFB Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 4 Tags
Amber List (moderate evidence)	CFB Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Complement factor B deficiency Tags condition_removed special_consideration
Amber List (moderate evidence)	CFH Newborns additional phenotypes panel 1 v0.114	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 1, autosomal recessive Tags
Amber List (moderate evidence)	CFH Newborns additional phenotypes panel 2 v0.31	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Complement factor H deficiency, autosomal dominant Tags condition_removed
Amber List (moderate evidence)	CFH Newborns additional phenotypes panel 3 v0.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 1, autosomal dominant Tags
Amber List (moderate evidence)	CFHR1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes CFHR1 associated susceptibility to atypical hemolytic uremic syndrome Tags
Amber List (moderate evidence)	CFI Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 3 Tags
Amber List (moderate evidence)	CHRNE Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Myasthenic syndrome, congenital, 4, autosomal dominant Tags
Amber List (moderate evidence)	CLCN1 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Myotonia congenita, dominant Tags
Amber List (moderate evidence)	CLCN1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Myotonia congenita, recessive Tags
Amber List (moderate evidence)	CLCN2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hyperaldosteronism, familial, type II Tags
Amber List (moderate evidence)	CLCNKB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Bartter syndrome, type 3 Tags
Amber List (moderate evidence)	COL4A3 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Alport syndrome 3, autosomal dominant Tags
Amber List (moderate evidence)	COPA Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Autoimmune interstitial lung, joint, and kidney disease Tags
Amber List (moderate evidence)	CP Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia Tags
Amber List (moderate evidence)	CPOX Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Coproporphyria Tags
Amber List (moderate evidence)	CR2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Common variable immune deficiency 7 Tags
Amber List (moderate evidence)	CTLA4 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation Tags
Amber List (moderate evidence)	CYB561 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Orthostatic hypotension 2 Tags
Amber List (moderate evidence)	CYP21A2 Newborns main panel v0.508	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Tags internal_inclusion_list_only special_caller_only
Amber List (moderate evidence)	DBH Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Orthostatic hypotension 1, due to DBH deficiency Tags
Amber List (moderate evidence)	DGKE Newborns additional phenotypes panel 1 v0.114	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Nephrotic syndrome, type 7 Tags
Amber List (moderate evidence)	DGKE Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 7 Tags
Amber List (moderate evidence)	DICER1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pleuropulmonary blastoma predisposition syndrome Tags
Amber List (moderate evidence)	DIS3L2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Perlman syndrome Tags
Amber List (moderate evidence)	DMD Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Duchenne Muscular Dystrophy Tags
Amber List (moderate evidence)	DNASE2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes DNASE2 deficiency Tags
Amber List (moderate evidence)	ECHS1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency Tags
Amber List (moderate evidence)	EIF2S3 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes MEHMO syndrome Tags
Amber List (moderate evidence)	ELF4 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 Tags
Amber List (moderate evidence)	EPCAM Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Diarrhoea 5, with tufting enteropathy, congenital Tags condition_removed special_consideration
Amber List (moderate evidence)	ERCC4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group Q Tags
Amber List (moderate evidence)	ERCC6L2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Bone marrow failure syndrome 2 Tags
Amber List (moderate evidence)	F11 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Factor XI deficiency, autosomal recessive Tags
Amber List (moderate evidence)	F11 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Factor XI deficiency, autosomal dominant Tags
Amber List (moderate evidence)	FANCA Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group A Tags
Amber List (moderate evidence)	FANCB Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group B Tags
Amber List (moderate evidence)	FANCC Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group C Tags
Amber List (moderate evidence)	FANCD2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group D2 Tags
Amber List (moderate evidence)	FANCE Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group E Tags
Amber List (moderate evidence)	FANCF Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group F Tags
Amber List (moderate evidence)	FANCG Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group G Tags
Amber List (moderate evidence)	FANCI Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group I Tags
Amber List (moderate evidence)	FANCL Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group L Tags
Amber List (moderate evidence)	FARS2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Spastic paraplegia 77, autosomal recessive Tags
Amber List (moderate evidence)	FGFR3 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Achondroplasia Tags
Amber List (moderate evidence)	FOXA2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes FOXA2 associated hyperinsulinism and hypopituitarism. No OMIM phenotype. Clingen moderate gene disease association with combined pituitary hormone deficiencies, genetic form Tags
Amber List (moderate evidence)	FOXI1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes FOXI1 associated distal renal tubular acidosis Tags
Amber List (moderate evidence)	FUCA1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fucosidosis Tags
Amber List (moderate evidence)	FXN Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Friedreich ataxia Tags
Amber List (moderate evidence)	FXYD2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hypomagnesemia 2, renal Tags
Amber List (moderate evidence)	G6PD Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Phenotypes G6PD deficient hemolytic anemia Tags
Amber List (moderate evidence)	GALC Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Krabbe disease Tags
Amber List (moderate evidence)	GALM Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Galactosemia IV Tags
Amber List (moderate evidence)	GATA1 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes GATA1 associated X-Linked Cytopenia Tags
Amber List (moderate evidence)	GATA2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Immunodeficiency 21 Tags
Amber List (moderate evidence)	GATA4 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pancreatic agenesis and congenital heart defects (no matching phenotype on OMIM) Tags
Amber List (moderate evidence)	GATA6 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pancreatic agenesis and congenital heart defects Tags
Amber List (moderate evidence)	GBA Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Gaucher disease Tags new-gene-name
Amber List (moderate evidence)	GCH1 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency, autosomal dominant Tags
Amber List (moderate evidence)	GCH1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency, autosomal recessive Tags
Amber List (moderate evidence)	GCM2 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes familial isolated hypoparathyroidism 2, Autosomal Dominant Tags
Amber List (moderate evidence)	GGCX Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 1 Tags
Amber List (moderate evidence)	GLA Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Fabry Disease Tags
Amber List (moderate evidence)	GLRA1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hyperekplexia 1 autosomal recessive Tags
Amber List (moderate evidence)	GLRA1 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hyperekplexia 1 autosomal dominant Tags
Amber List (moderate evidence)	GLRB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hyperekplexia 2 Tags
Amber List (moderate evidence)	GLRX5 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Anemia, sideroblastic, 3, pyridoxine-refractory Tags
Amber List (moderate evidence)	GNAS Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pseudohypoparathyroidism Ia Tags
Amber List (moderate evidence)	GNAS Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pseudohypoparathyroidism Ib Tags
Amber List (moderate evidence)	GNAS Newborns additional phenotypes panel 2 v0.31	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pseudohypoparathyroidism Ic Tags
Amber List (moderate evidence)	GNE Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Nonaka myopathy Tags
Amber List (moderate evidence)	GOT2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Developmental and epileptic encephalopathy 82 Tags
Amber List (moderate evidence)	GRIN2A Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Focal epilepsy and speech disorder Tags
Amber List (moderate evidence)	GYS2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes glycogen storage disease type 0 Tags
Amber List (moderate evidence)	HAMP Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hemochromatosis, type 2B Tags
Amber List (moderate evidence)	HAVCR2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Subcutaneous panniculitis-like T cell lymphoma Tags
Amber List (moderate evidence)	HBA1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Alpha Thalassaemia Tags
Amber List (moderate evidence)	HBA2 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Alpha Thalassaemia Tags
Amber List (moderate evidence)	HCFC1 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Methylmalonic aciduria and homocysteinemia, cblX type Tags
Amber List (moderate evidence)	HFE2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hemochromatosis, type 2A Tags new-gene-name
Amber List (moderate evidence)	HGD Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Alkaptonuria Tags
Amber List (moderate evidence)	HIBCH Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency Tags
Amber List (moderate evidence)	HMBS Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Porphyria, acute intermittent Tags
Amber List (moderate evidence)	HNF1A Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes HNF1A associated hyperinsulinism Tags
Amber List (moderate evidence)	HNF1B Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Renal Cysts and Diabetes Syndrome Tags
Amber List (moderate evidence)	HOXA11 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 Tags
Amber List (moderate evidence)	HSCB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Anemia, sideroblastic, 5 Tags
Amber List (moderate evidence)	HSPA9 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Anemia, sideroblastic, 4 Tags
Amber List (moderate evidence)	IARS Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy Tags new-gene-name
Amber List (moderate evidence)	ICOS Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Common variable immune deficiency 1 Tags
Amber List (moderate evidence)	IER3IP1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Microcephaly, epilepsy, and diabetes syndrome Tags
Amber List (moderate evidence)	IFIH1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 7 Tags
Amber List (moderate evidence)	IGFALS Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Acid-labile subunit deficiency Tags
Amber List (moderate evidence)	IKBKB Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Immunodeficiency 15A Tags
Amber List (moderate evidence)	IKBKG Newborns main panel v0.508	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Immunodeficiency 33 Tags
Amber List (moderate evidence)	IKZF1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Common variable immune deficiency 13 Tags
Amber List (moderate evidence)	IL1RN Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Interleukin 1 receptor antagonist deficiency Tags
Amber List (moderate evidence)	IL21 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Common variable immune deficiency 11 Tags
Amber List (moderate evidence)	IL21R Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 56 Tags
Amber List (moderate evidence)	IL36RN Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes pustular psoriasis-14 Tags
Amber List (moderate evidence)	INSR Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hyperinsulinemic hypoglycemia, familial, 5 Tags
Amber List (moderate evidence)	IRF2BP2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Common variable immune deficiency 14 Tags
Amber List (moderate evidence)	JAK1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Autoinflammation, immune dysregulation, and eosinophilia Tags
Amber List (moderate evidence)	KCNA1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Episodic ataxia/myokymia syndrome Tags
Amber List (moderate evidence)	KCNE1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Jervell and Lange-Nielsen syndrome 2 Tags
Amber List (moderate evidence)	KCNE1 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Long QT Syndrome 5 Tags
Amber List (moderate evidence)	KCNH2 Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Long QT Syndrome 2 Tags internal_inclusion_list_only
Amber List (moderate evidence)	KCNJ11 Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Familial hyperinsulinemic hypoglycemia-2, autosomal dominant Tags
Amber List (moderate evidence)	KCNJ2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Andersen-Tawil syndrome and Catecholaminergic polymorphic ventricular tachycardia Tags
Amber List (moderate evidence)	KCNJ5 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hyperaldosteronism, familial, type III Tags
Amber List (moderate evidence)	KCNJ8 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes KCNJ8 associated hypertrichotic osteochondrodysplasia Tags
Amber List (moderate evidence)	KCNQ1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Jervell and Lange-Nielsen syndrome Tags internal_inclusion_list_only
Amber List (moderate evidence)	KCNQ1 Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Long QT Syndrome 1 Tags internal_inclusion_list_only
Amber List (moderate evidence)	KCNQ2 Newborns main panel v0.508	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Early infantile epileptic encephalopathy-7 Tags internal_inclusion_list_only
Amber List (moderate evidence)	KCNT1 Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Early infantile epileptic encephalopathy-14 Tags
Amber List (moderate evidence)	KDM1A Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes KDM1A associated ACTH-independent macronodular adrenal hyperplasia Tags
Amber List (moderate evidence)	KDSR Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Erythrokeratodermia variabilis et progressiva 4 Tags
Amber List (moderate evidence)	LAMTOR2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes MAPBP-interacting protein associated immunodeficiency Tags
Amber List (moderate evidence)	LARS Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Infantile liver failure syndrome 1 Tags new-gene-name
Amber List (moderate evidence)	LDLR Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Familial hypercholesterolaemia-1 Tags
Amber List (moderate evidence)	LHX4 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pituitary hormone deficiency, combined, 4 Tags
Amber List (moderate evidence)	LMAN1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Combined factor V and VIII deficiency Tags
Amber List (moderate evidence)	LMNA Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hutchinson-Gilford progeria syndrome Tags
Amber List (moderate evidence)	LPIN2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Majeed syndrome Tags
Amber List (moderate evidence)	LRBA Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency, common variable, 8, with autoimmunity Tags
Amber List (moderate evidence)	LRP4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital myasthenic syndrome-17 Tags
Amber List (moderate evidence)	LSM11 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 8 Tags
Amber List (moderate evidence)	MAD2L2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group V Tags
Amber List (moderate evidence)	MAGED2 Newborns main panel v0.508	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Bartter syndrome, type 5, antenatal, transient Tags condition_removed special_consideration
Amber List (moderate evidence)	MALT1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 12 Tags
Amber List (moderate evidence)	MAP3K14 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes MAP3K14 associated immunodeficiency Tags
Amber List (moderate evidence)	MARS Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Interstitial lung and liver disease Tags new-gene-name
Amber List (moderate evidence)	MCCC1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency Tags
Amber List (moderate evidence)	MCCC2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency Tags
Amber List (moderate evidence)	MCFD2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Factor V and factor VIII, combined deficiency of Tags
Amber List (moderate evidence)	MECOM Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 Tags
Amber List (moderate evidence)	MEFV Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Familial Mediterranean fever, Autosomal dominant Tags
Amber List (moderate evidence)	MEFV Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Familial Mediterranean fever, Autosomal recessive Tags internal_inclusion_list_only
Amber List (moderate evidence)	MLH1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mismatch repair cancer syndrome 1 Tags
Amber List (moderate evidence)	MLYCD Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Malonyl-CoA decarboxylase deficiency Tags
Amber List (moderate evidence)	MNX1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Currarino syndrome A syndrome of neonatal diabetes mellitus, developmental delays, sacral agenesis and imperforated anus Tags
Amber List (moderate evidence)	MOCS1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Molybdenum cofactor deficiency A Tags
Amber List (moderate evidence)	MS4A1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Common variable immune deficiency 5 Tags
Amber List (moderate evidence)	MSH2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mismatch repair cancer syndrome 2 Tags
Amber List (moderate evidence)	MSH6 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mismatch repair cancer syndrome 3 Tags
Amber List (moderate evidence)	MTHFS Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination Tags
Amber List (moderate evidence)	MVK Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hyper-IgD syndrome / mevalonate kinase deficiciency Tags internal_inclusion_list_only
Amber List (moderate evidence)	MYO9A Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital myasthenic syndrome-24 Tags
Amber List (moderate evidence)	NAGLU Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) Tags
Amber List (moderate evidence)	NAXD Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 2 Tags
Amber List (moderate evidence)	NAXE Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 1 Tags
Amber List (moderate evidence)	NCF1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Chronic granulomatous disease 1 Tags
Amber List (moderate evidence)	NEUROD1 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Maturity-onset diabetes of the young 6, autosomal dominant Tags
Amber List (moderate evidence)	NFKB1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Common variable immune deficiency 12 Tags
Amber List (moderate evidence)	NFKB2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Common variable immune deficiency 10 Tags
Amber List (moderate evidence)	NIPAL4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Ichthyosis, congenital, autosomal recessive 6 Tags
Amber List (moderate evidence)	NKX2-1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress Tags
Amber List (moderate evidence)	NKX2-2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neonatal diabetes syndromic - No phenotype in OMIM Tags
Amber List (moderate evidence)	NLRC4 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes NLRC4 associated familial cold inflammatory syndrome Tags
Amber List (moderate evidence)	NLRP12 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Familial cold autoinflammatory syndrome 2 Tags
Amber List (moderate evidence)	NOD2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Blau syndrome Tags
Amber List (moderate evidence)	NPC1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Niemann-Pick disease, type C, NPC1 Tags
Amber List (moderate evidence)	NPC2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Niemann-Pick disease, type C, NPC2 Tags
Amber List (moderate evidence)	ORAI1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 9 Tags
Amber List (moderate evidence)	OTULIN Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome Tags
Amber List (moderate evidence)	PALB2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group N Tags
Amber List (moderate evidence)	PAPPA2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes PAPPA2 associated short stature Tags
Amber List (moderate evidence)	PCSK9 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Familial hypercholesterolaemia-3 Tags
Amber List (moderate evidence)	PDGFRB Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes PDGFRB activating spectrum disorder Tags
Amber List (moderate evidence)	PDX1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Pancreatic agenesis 1 Tags
Amber List (moderate evidence)	PGM3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 23 Tags
Amber List (moderate evidence)	PHGDH Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Phosphoglycerate dehydrogenase deficiency Tags
Amber List (moderate evidence)	PHKA1 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Muscle glycogenosis Tags
Amber List (moderate evidence)	PHKB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive Tags
Amber List (moderate evidence)	PHOX2B Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes PHOX2B-related susceptibility to Neuroblastoma and central hypoventilation syndrome Tags
Amber List (moderate evidence)	PIK3CA Newborns main panel v0.508	2 reviews	Other	Sources Expert Review Amber Phenotypes PIK3CA related overgrowth spectrum Tags
Amber List (moderate evidence)	PIK3CD Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 14B Tags
Amber List (moderate evidence)	PIK3CD Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Immunodeficiency 14A Tags
Amber List (moderate evidence)	PIK3R1 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Immunodeficiency 36 Tags
Amber List (moderate evidence)	PLCG2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Autoinflammation and PLCG2 associated antibody deficiency and immune dysregulation (APLAID) Tags
Amber List (moderate evidence)	PLG Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Plasminogen deficiency, type I Tags condition_removed special_consideration
Amber List (moderate evidence)	PMM2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital disorder of glycosylation, type Ia Tags
Amber List (moderate evidence)	PMS2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mismatch repair cancer syndrome 4 Tags
Amber List (moderate evidence)	POMP Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Proteasome-associated autoinflammatory syndrome 2 Tags
Amber List (moderate evidence)	PRDX1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, digenic Tags
Amber List (moderate evidence)	PRKCD Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Autoimmune lymphoproliferative syndrome, type III Tags
Amber List (moderate evidence)	PROKR2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia, autosomal dominant Tags
Amber List (moderate evidence)	PRPS1 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Arts syndrome Tags
Amber List (moderate evidence)	PRRT2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Episodic kinesigenic dyskinesia 1 Tags
Amber List (moderate evidence)	PSAP Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency Tags
Amber List (moderate evidence)	PSAT1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Phosphoserine aminotransferase deficiency Tags
Amber List (moderate evidence)	PSMB10 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Proteasome-associated autoinflammatory syndrome 5 Tags
Amber List (moderate evidence)	PSMB4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Proteasome-associated autoinflammatory syndrome 3 Tags
Amber List (moderate evidence)	PSMB8 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Proteasome-associated autoinflammatory syndrome 1 Tags
Amber List (moderate evidence)	PSMB9 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes PSMB9 associated proteasome-associated autoinflammatory syndrome Tags
Amber List (moderate evidence)	PSMG2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Proteasome-associated autoinflammatory syndrome 4 Tags
Amber List (moderate evidence)	PSPH Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Phosphoserine phosphatase deficiency Tags
Amber List (moderate evidence)	PTH Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes familial isolated hypoparathyroidism 1, Autosomal dominant Tags
Amber List (moderate evidence)	RAC2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 73C Tags
Amber List (moderate evidence)	RAC2 Newborns additional phenotypes panel 2 v0.31	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Immunodeficiency 73A Tags
Amber List (moderate evidence)	RAD51 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group R Tags
Amber List (moderate evidence)	RAD51C Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group O Tags
Amber List (moderate evidence)	REL Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 92 Tags
Amber List (moderate evidence)	RELA Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes RELA associated chronic mucocutaneous ulceration Tags
Amber List (moderate evidence)	RELB Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 53 Tags
Amber List (moderate evidence)	RFWD3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group W Tags
Amber List (moderate evidence)	RFX6 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mitchell-Riley Syndrome/neonatal diabetes with pancreatic hypoplasia, intestinal atresia and gallbladder hypoplasia or aplasia Tags
Amber List (moderate evidence)	RMRP Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Cartilege Hair Hypoplasia Tags
Amber List (moderate evidence)	RNASEH2A Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 4 Tags
Amber List (moderate evidence)	RNASEH2B Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 2 Tags
Amber List (moderate evidence)	RNASEH2C Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 3 Tags
Amber List (moderate evidence)	RNU7-1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 9 Tags
Amber List (moderate evidence)	RPL18 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Diamond-Blackfan anaemia 18 Tags
Amber List (moderate evidence)	RPL27 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Diamond-Blackfan anaemia 16 Tags
Amber List (moderate evidence)	RPL31 Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes RPL31 associated Diamond-Blackfan anaemia Tags condition_removed special_consideration
Amber List (moderate evidence)	RPL35 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Diamond-Blackfan anaemia 19 Tags
Amber List (moderate evidence)	RPS15A Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Diamond-Blackfan anaemia 20 Tags
Amber List (moderate evidence)	RPS27 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Diamond-Blackfan anaemia 17 Tags
Amber List (moderate evidence)	RPS28 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Diamond Blackfan anaemia 15 with mandibulofacial dysostosis Tags
Amber List (moderate evidence)	RPS9 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes RPS9 associated Diamond-Blackfan anaemia Tags
Amber List (moderate evidence)	RYR2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes catecholaminergic polymorphic ventricular tachycardia 1 Tags
Amber List (moderate evidence)	SAMD9L Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Ataxia pancytopaenia syndrome Tags internal_inclusion_list_only
Amber List (moderate evidence)	SAMHD1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 5 Tags
Amber List (moderate evidence)	SARS Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neurodevelopmental disorder with microcephaly, ataxia, and seizures Tags new-gene-name
Amber List (moderate evidence)	SCN1A Newborns main panel v0.508	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Early infantile epileptic encephalopathy-6 Tags internal_inclusion_list_only
Amber List (moderate evidence)	SCN2A Newborns main panel v0.508	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Early infantile epileptic encephalopathy-11 Tags internal_inclusion_list_only
Amber List (moderate evidence)	SCN3A Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Epilepsy, familial focal, with variable foci 4 Tags
Amber List (moderate evidence)	SCN4A Newborns additional phenotypes panel 3 v0.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Paramyotonia congenita and Sodium channel myotonia Tags
Amber List (moderate evidence)	SCN4A Newborns additional phenotypes panel 2 v0.31	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hyperkalemic periodic paralysis Tags
Amber List (moderate evidence)	SCN4A Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hypokalemic periodic paralysis type 2 Tags
Amber List (moderate evidence)	SCN5A Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Long QT Syndrome 3 Tags internal_inclusion_list_only
Amber List (moderate evidence)	SCN5A Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Brugada syndrome 1 plus cardiac conduction defects Tags
Amber List (moderate evidence)	SCN8A Newborns main panel v0.508	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Early infantile epileptic encephalopathy-13 Tags internal_inclusion_list_only
Amber List (moderate evidence)	SERPINA1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Alpha-1-antitrypsin deficiency Tags
Amber List (moderate evidence)	SERPING1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hereditary angioedema, autosomal recessive Tags condition_removed
Amber List (moderate evidence)	SERPING1 Newborns additional phenotypes panel 1 v0.114	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hereditary angioedema, autosomal dominant Tags condition_removed
Amber List (moderate evidence)	SFTPC Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Surfactant metabolism dysfunction, pulmonary, 2 Tags
Amber List (moderate evidence)	SLC13A5 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Early infantile epileptic encephalopathy-25 Tags
Amber List (moderate evidence)	SLC16A1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Familial hyperinsulinemic hypoglycemia-7 Tags
Amber List (moderate evidence)	SLC16A2 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Allan-Herndon-Dudley syndrome Tags
Amber List (moderate evidence)	SLC18A2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Infantile parkinsonism-dystonia-2 Tags
Amber List (moderate evidence)	SLC1A3 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Episodic ataxia, type 6 Tags
Amber List (moderate evidence)	SLC25A38 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory Tags
Amber List (moderate evidence)	SLC26A3 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Diarrhoea 1, secretory chloride, congenital Tags condition_removed special_consideration
Amber List (moderate evidence)	SLC26A4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Pendred Syndrome Tags
Amber List (moderate evidence)	SLC2A2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi-Bickel syndrome Tags
Amber List (moderate evidence)	SLC35A2 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIm Tags
Amber List (moderate evidence)	SLC35C1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIc Tags
Amber List (moderate evidence)	SLC37A4 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIw Tags
Amber List (moderate evidence)	SLC39A14 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hypermanganesemia with dystonia 2 Tags
Amber List (moderate evidence)	SLC39A8 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIn Tags
Amber List (moderate evidence)	SLC40A1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hemochromatosis, type 4 Tags
Amber List (moderate evidence)	SLC4A4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities Tags
Amber List (moderate evidence)	SLC5A6 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Sodium-dependent multivitamin transporter deficiency Tags
Amber List (moderate evidence)	SLC6A5 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hyperekplexia 3 autosomal recessive Tags
Amber List (moderate evidence)	SLC6A5 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hyperekplexia 3 autosomal dominant Tags
Amber List (moderate evidence)	SLC6A6 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hypotaurinemic retinal degeneration and cardiomyopathy Tags
Amber List (moderate evidence)	SLC6A8 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Cerebral creatine deficiency syndrome 1 Tags
Amber List (moderate evidence)	SLC9A3 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Diarrhoea 8, secretory sodium, congenital Tags condition_removed special_consideration
Amber List (moderate evidence)	SLX4 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group P Tags
Amber List (moderate evidence)	SMARCA4 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Rhabdoid tumour predisposition syndrome Tags
Amber List (moderate evidence)	SMARCB1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Rhabdoid tumour predisposition syndrome Tags
Amber List (moderate evidence)	SMPD1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Niemann-Pick disease, type A and type B Tags
Amber List (moderate evidence)	SNAP25 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Congenital myasthenic syndrome-18 Tags
Amber List (moderate evidence)	SORD Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Sorbitol dehydrogenase deficiency with peripheral neuropathy Tags
Amber List (moderate evidence)	SOX3 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Panhypopituitarism, X-linked Tags
Amber List (moderate evidence)	SPINT2 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Diarrhoea 3, secretory sodium, congenital, syndromic Tags condition_removed special_consideration
Amber List (moderate evidence)	SPR Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Dopa-responsive dystonia due to sepiapterin reductase deficiency Tags
Amber List (moderate evidence)	SPTLC1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Neuropathy, hereditary sensory and autonomic, type IA Tags
Amber List (moderate evidence)	SPTLC2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Neuropathy, hereditary sensory and autonomic, type IC Tags
Amber List (moderate evidence)	STIM1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 10 Tags
Amber List (moderate evidence)	STX16 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pseudohypoparathyroidism, type IB Tags
Amber List (moderate evidence)	TECRL Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 3 Tags internal_inclusion_list_only
Amber List (moderate evidence)	TFR2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hemochromatosis, type 3 Tags
Amber List (moderate evidence)	THAP11 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes No OMIM phenotype Tags
Amber List (moderate evidence)	THBD Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 6 Tags
Amber List (moderate evidence)	TK2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Thymidine kinase deficiency Tags
Amber List (moderate evidence)	TMEM165 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIk Tags
Amber List (moderate evidence)	TNFAIP3 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Familial Behcet-like autoinflammatory syndrome-1 Tags
Amber List (moderate evidence)	TNFRSF13C Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Common variable immune deficiency 4 Tags
Amber List (moderate evidence)	TNFRSF1A Newborns main panel v0.508	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Tumor necrosis factor receptor associated periodic fever syndrome Tags internal_inclusion_list_only
Amber List (moderate evidence)	TOP2B Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations Tags
Amber List (moderate evidence)	TP53 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Li Fraumeni Tags
Amber List (moderate evidence)	TPP1 Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Ceroid lipofuscinosis, neuronal, 2 Tags condition_removed special_consideration
Amber List (moderate evidence)	TRDN Newborns main panel v0.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Cardiac arrhythmia syndrome, with or without skeletal muscle weakness Tags internal_inclusion_list_only
Amber List (moderate evidence)	TREX1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 1, autosomal recessive Tags
Amber List (moderate evidence)	TREX1 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 1, autosomal dominant Tags
Amber List (moderate evidence)	TRMU Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Liver failure, transient infantile Tags
Amber List (moderate evidence)	TRNT1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes TRNT1 associated hypogammaglobulinemia Tags
Amber List (moderate evidence)	TSC1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Tuberous sclerosis-1 Tags
Amber List (moderate evidence)	TSC2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Tuberous sclerosis-2 Tags
Amber List (moderate evidence)	TSR2 Newborns main panel v0.508	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Tags
Amber List (moderate evidence)	TTR Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Transthyretin associated hereditary amyloidosis Tags
Amber List (moderate evidence)	TXNRD2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Glucocorticoid deficiency 5 Tags
Amber List (moderate evidence)	UBE2T Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group T Tags
Amber List (moderate evidence)	USP18 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Pseudo-TORCH syndrome 2 Tags
Amber List (moderate evidence)	VKORC1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2 Tags
Amber List (moderate evidence)	WDR1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Periodic fever, immunodeficiency, and thrombocytopenia syndrome Tags
Amber List (moderate evidence)	WIPF1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Wiskott-Aldrich syndrome 2 Tags
Amber List (moderate evidence)	WNK4 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pseudohypoaldosteronism, type IIB Tags
Amber List (moderate evidence)	XRCC2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group U Tags
Amber List (moderate evidence)	ZFP57 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Autosomal recessive diabetes mellitus, transient neonatal 1 Tags
Amber List (moderate evidence)	ZNF143 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes No OMIM phenotype Tags
Red List (low evidence)	AP2S1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes familial hypocalciuric hypercalcemia type III Tags
Red List (low evidence)	APC Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Adenomatous polyposis coli Tags
Red List (low evidence)	BMPR1A Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Polyposis, juvenile intestinal Tags
Red List (low evidence)	CASR Newborns additional phenotypes panel 2 v0.31	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes familial hypocalciuric hypercalcemia type I Tags
Red List (low evidence)	CHD7 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes CHARGE syndrome Tags
Red List (low evidence)	GNA11 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Hypocalcemia, autosomal dominant 2 Tags
Red List (low evidence)	HFE Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hemochromatosis Tags
Red List (low evidence)	HNF1A Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes HNF1A associated MODY Tags
Red List (low evidence)	HNF4A Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes HNF4A associated hyperinsulinism Tags
Red List (low evidence)	HNF4A Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes HNF4A associated MODY Tags
Red List (low evidence)	KL Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 3 Tags
Red List (low evidence)	KLF11 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Maturity-onset diabetes of the young, type VII Tags
Red List (low evidence)	MLH1 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Hereditary nonpolyposis colorectal cancer-2 Tags
Red List (low evidence)	MSH2 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Hereditary nonpolyposis colorectal cancer-1 Tags
Red List (low evidence)	MSH6 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Hereditary nonpolyposis colorectal cancer-5 Tags
Red List (low evidence)	MUTYH Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Adenomas, multiple colorectal Tags
Red List (low evidence)	NF1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Neurofibromatosis type 1 Tags
Red List (low evidence)	PKD1 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Polycystic kidney disease 1 Tags
Red List (low evidence)	PKD2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Polycystic kidney disease 2 Tags
Red List (low evidence)	PMS2 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Hereditary nonpolyposis colorectal cancer-4 Tags
Red List (low evidence)	SCARB2 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes progressive myoclonic epilepsy 4 Tags
Red List (low evidence)	SLC12A3 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Gitelman syndrome Tags
Red List (low evidence)	SLC30A2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Transient neonatal zinc deficiency Tags
Red List (low evidence)	SMAD4 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Polyposis, juvenile intestinal Tags
Red List (low evidence)	TNFRSF13B Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Common variable immune deficiency 2, autosomal recessive Tags
Red List (low evidence)	TNFRSF13B Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Common variable immune deficiency 2, autosomal dominant Tags
Red List (low evidence)	UCP2 Newborns main panel v0.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes UCP2 associated hyperinsulinism Tags
Red List (low evidence)	UROD Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Porphyria cutanea tarda Tags
Red List (low evidence)	WDR72 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes WDR72 associated distal renal tubular acidosis Tags
Red List (low evidence)	WFS1 Newborns main panel v0.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Wolfram Syndrome 1 Tags
Red List (low evidence)	WFS1 Newborns additional phenotypes panel 1 v0.114	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Wolfram-like Syndrome Tags

Newborn Genomes Superpanel (Version 0.687)

970 Entities

970 reviewed, 581 green

1 review

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1 review

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Phenotypes

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1 review

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1 review

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2 reviews

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2 reviews

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1 review

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1 review

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1 review

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Phenotypes

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1 review

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2 reviews

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1 review

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1 review

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2 reviews

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1 review

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1 review

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1 review

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1 review

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2 reviews

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1 review