Newborns additional phenotypes panel 1 (Version 0.114)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 78 Entitiess
Green List (high evidence)	ABCC8	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)	ALAS2	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)	AQP2	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)	AVP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Diabetes insipidus, neurohypophyseal, autosomal recessive Tags special_consideration
Green List (high evidence)	CASR	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)	CHRNA1	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	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)	CHRND	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)	CLCN7	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)	EDAR	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	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)	ERCC4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group F Tags
Green List (high evidence)	FGF23	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)	GCK	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)	GH1	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)	HBB	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sickle Cell Disease Tags special_consideration
Green List (high evidence)	IFNGR1	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)	INS	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)	KLHL3	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)	MMADHC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria, cblD type, variant 2 Tags special_consideration
Green List (high evidence)	NR5A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes NR5A1 associated adrenocortical insufficiency Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	PCSK9	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Familial hypercholesterolaemia-3 Autosomal Recessive Tags special_consideration
Green List (high evidence)	PMM2	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)	POU1F1	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)	PROKR2	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)	RAC2	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)	SLC2A1	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)	SLC4A1	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)	SYT2	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)	TCF3	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)	THRB	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)	TLR3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Immunodeficiency 83 dominant loss of function Tags
Amber List (moderate evidence)	ADAR	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)	ALPL	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Autosomal dominant hypophosphatasia Tags
Amber List (moderate evidence)	APOA5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hyperchylomicronemia, late-onset Tags
Amber List (moderate evidence)	APOB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hypercholesterolaemia, familial, 2 Tags
Amber List (moderate evidence)	C3	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)	CACNA1C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Timothy Syndrome Tags
Amber List (moderate evidence)	CARD11	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)	CAV1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Lipodystrophy, familial partial, type 7 Tags
Amber List (moderate evidence)	CD46	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)	CFB	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)	CFH	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)	CFI	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	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	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Myotonia congenita, dominant Tags
Amber List (moderate evidence)	COL4A3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Alport syndrome 3, autosomal dominant Tags
Amber List (moderate evidence)	DGKE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Nephrotic syndrome, type 7 Tags
Amber List (moderate evidence)	F11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Factor XI deficiency, autosomal dominant Tags
Amber List (moderate evidence)	GCH1	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)	GCM2	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)	GLRA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hyperekplexia 1 autosomal dominant Tags
Amber List (moderate evidence)	GNAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pseudohypoparathyroidism Ib Tags
Amber List (moderate evidence)	IKBKB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Immunodeficiency 15A Tags
Amber List (moderate evidence)	KCNE1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Long QT Syndrome 5 Tags
Amber List (moderate evidence)	KCNJ11	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)	KCNQ1	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)	LDLR	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Familial hypercholesterolaemia-1 Tags
Amber List (moderate evidence)	MEFV	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Familial Mediterranean fever, Autosomal dominant Tags
Amber List (moderate evidence)	NEUROD1	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)	PIK3CD	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Immunodeficiency 14A Tags
Amber List (moderate evidence)	PIK3R1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Immunodeficiency 36 Tags
Amber List (moderate evidence)	PTH	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)	SCN4A	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	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)	SERPING1	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)	SLC37A4	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)	SLC6A5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hyperekplexia 3 autosomal dominant Tags
Amber List (moderate evidence)	TREX1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 1, autosomal dominant Tags
Red List (low evidence)	HNF1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes HNF1A associated MODY Tags
Red List (low evidence)	HNF4A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes HNF4A associated MODY Tags
Red List (low evidence)	MLH1	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	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	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Hereditary nonpolyposis colorectal cancer-5 Tags
Red List (low evidence)	PMS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Hereditary nonpolyposis colorectal cancer-4 Tags
Red List (low evidence)	TNFRSF13B	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)	UROD	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Porphyria cutanea tarda Tags
Red List (low evidence)	WFS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Wolfram-like Syndrome Tags

Newborns additional phenotypes panel 1 (Version 0.114)

3 reviewers

78 Entities

78 reviewed, 32 green

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