Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
AARS	gene	AARS	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 29, MIM# 616339;Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287						False	1	0;0;100	1.116	True		ENSG00000090861	ENSG00000090861	HGNC:20													
AARS2	gene	AARS2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy, and ovarian failure in females						False	1	0;0;0	1.116	False		ENSG00000124608	ENSG00000124608	HGNC:21022													
ABAT	gene	ABAT	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	GABA-transaminase deficiency						False	1	0;0;0	1.116	False		ENSG00000183044	ENSG00000183044	HGNC:23													
ABCA12	gene	ABCA12	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 4A (MIM#601277);Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)						False	1	0;0;100	1.116	True		ENSG00000144452	ENSG00000144452	HGNC:14637													
ABCA3	gene	ABCA3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921						False	1	0;0;100	1.116	True		ENSG00000167972	ENSG00000167972	HGNC:33													
ABCA4	gene	ABCA4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cone-rod dystrophy 3, 604116;Fundus flavimaculatus, 248200;Retinal dystrophy, early-onset severe, 248200;Retinitis pigmentosa 19, 601718;Stargardt disease 1, 248200						False	1	0;0;100	1.116	True		ENSG00000198691	ENSG00000198691	HGNC:34													
ABCB11	gene	ABCB11	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cholestasis, progressive familial intrahepatic 2, MIM# 601847;Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479						False	1	0;0;100	1.116	True		ENSG00000073734	ENSG00000073734	HGNC:42													
ABCB4	gene	ABCB4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cholestasis, progressive familial intrahepatic 3 MIM#602347;disorder of bile acid metabolism;Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972);Gallbladder disease 1 (MIM#600803)						False	1	0;0;100	1.116	True		ENSG00000005471	ENSG00000005471	HGNC:45													
ABCB7	gene	ABCB7	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sideroblastic anaemia and ataxia						False	1	0;0;0	1.116	False		ENSG00000131269	ENSG00000131269	HGNC:48													
ABCC2	gene	ABCC2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Dubin-Johnson syndrome, MIM# 237500				11477083;30344695		False	1	0;0;100	1.116	True		ENSG00000023839	ENSG00000023839	HGNC:53													
ABCC9	gene	ABCC9	BabySeq Category A gene;BabySeq Category B gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atrial fibrillation, familial;Cardiomyopathy, dilated;Hypertrichotic osteochondrodysplasia						False	1	0;0;0	1.116	False		ENSG00000069431	ENSG00000069431	HGNC:60													
ABHD12	gene	ABHD12	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674						False	1	0;0;100	1.116	True		ENSG00000100997	ENSG00000100997	HGNC:15868													
ACAD8	gene	ACAD8	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Isobutyryl-CoA dehydrogenase deficiency MIM#611283						False	1	0;0;100	1.116	True		ENSG00000151498	ENSG00000151498	HGNC:87													
ACADL	gene	ACADL	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Sudden infant death						False	1	0;0;0	1.116	False		ENSG00000115361	ENSG00000115361	HGNC:88													
ACADS	gene	ACADS	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Acyl-CoA dehydrogenase, short-chain, deficiency of 201470						False	1	0;0;100	1.116	True		ENSG00000122971	ENSG00000122971	HGNC:90													
ACADSB	gene	ACADSB	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	2-methylbutyrylglycinuria MIM#610006						False	1	0;0;100	1.116	True		ENSG00000196177	ENSG00000196177	HGNC:91													
ACBD5	gene	ACBD5	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thrombocytopaenia						False	1	0;0;0	1.116	False		ENSG00000107897	ENSG00000107897	HGNC:23338													
ACE	gene	ACE	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Renal tubular dysgenesis, MIM# 267430				16116425;22095942		False	1	0;0;100	1.116	True		ENSG00000159640	ENSG00000159640	HGNC:2707													
ACO2	gene	ACO2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cerebellar-retinal degeneration, infantile						False	1	0;0;0	1.116	False		ENSG00000100412	ENSG00000100412	HGNC:118													
ACOX1	gene	ACOX1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470;Mitchell syndrome, MIM# 618960				32169171;17458872		False	1	0;0;100	1.116	True		ENSG00000161533	ENSG00000161533	HGNC:119													
ACSF3	gene	ACSF3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Combined malonic and methylmalonic aciduria				21841779;30740739		False	1	0;0;0	1.116	False		ENSG00000176715	ENSG00000176715	HGNC:27288													
ACTA1	gene	ACTA1	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Nemaline myopathy;Congenital myopathy with fiber type disproportion						False	1	0;0;0	1.116	False		ENSG00000143632	ENSG00000143632	HGNC:129													
ACTB	gene	ACTB	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Baraitser-Winter syndrome;Neutrophil dysfunction and recurrent infection						False	1	0;0;0	1.116	False		ENSG00000075624	ENSG00000075624	HGNC:132													
ACTC1	gene	ACTC1	BabySeq Category B gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atrial septal defect;Cardiomyopathy, familial hypertrophic;Left ventricular noncompaction;Cardiomyopathy, dilated						False	1	0;0;0	1.116	False		ENSG00000159251	ENSG00000159251	HGNC:143													
ACTG1	gene	ACTG1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Baraitser-Winter syndrome 2MIM#614583;Deafness, autosomal dominant 20/26 MIM#604717						False	1	0;0;100	1.116	True		ENSG00000184009	ENSG00000184009	HGNC:144													
ACTG2	gene	ACTG2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Visceral myopathy, MIM#155310;Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431						False	1	0;0;100	1.116	True		ENSG00000163017	ENSG00000163017	HGNC:145													
ACTN1	gene	ACTN1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bleeding disorder, platelet-type, 15, MIM# 615193						False	1	0;0;100	1.116	True		ENSG00000072110	ENSG00000072110	HGNC:163													
ACTN2	gene	ACTN2	BabySeq Category B gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, dilated						False	1	0;0;0	1.116	False		ENSG00000077522	ENSG00000077522	HGNC:164													
ACTN4	gene	ACTN4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Glomerulosclerosis, focal segmental, 1, MIM#603278						False	1	0;0;100	1.116	True		ENSG00000130402	ENSG00000130402	HGNC:166													
ACVR1	gene	ACVR1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Fibrodysplasia ossificans progressiva, MIM# 135100				16642017;29089047;35384641		False	1	0;0;100	1.116	True		ENSG00000115170	ENSG00000115170	HGNC:171													
ACVR2B	gene	ACVR2B	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Left-right axis malformation						False	1	0;0;0	1.116	False		ENSG00000114739	ENSG00000114739	HGNC:174													
ADAM17	gene	ADAM17	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Neonatal inflammatory skin and bowel disease						False	1	0;0;0	1.116	False		ENSG00000151694	ENSG00000151694	HGNC:195													
ADAMTS2	gene	ADAMTS2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome VIIc						False	1	0;0;0	1.116	False		ENSG00000087116	ENSG00000087116	HGNC:218													
ADAMTSL2	gene	ADAMTSL2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Geleophysic dysplasia 1, MIM# 231050						False	1	0;0;100	1.116	True		ENSG00000197859	ENSG00000197859	HGNC:14631													
ADGRG1	gene	ADGRG1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Polymicrogyria, bilateral frontoparietal, MIM#606854						False	1	0;0;100	1.116	True		ENSG00000205336	ENSG00000205336	HGNC:4512													
ADK	gene	ADK	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300				21963049;17120046;33309011		False	1	0;0;100	1.116	True		ENSG00000156110	ENSG00000156110	HGNC:257													
AGA	gene	AGA	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Aspartylglucosaminuria, MIM# 208400 MONDO:0008830						False	1	0;0;100	1.116	True		ENSG00000038002	ENSG00000038002	HGNC:318													
AGPS	gene	AGPS	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Rhizomelic chondrodysplasia punctata, type 3						False	1	0;0;0	1.116	False		ENSG00000018510	ENSG00000018510	HGNC:327													
AGT	gene	AGT	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Renal tubular dysgenesis						False	1	0;0;0	1.116	False		ENSG00000135744	ENSG00000135744	HGNC:333													
AGTR1	gene	AGTR1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Renal tubular dysgenesis						False	1	0;0;0	1.116	False		ENSG00000144891	ENSG00000144891	HGNC:336													
AHI1	gene	AHI1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 3, MIM# 608629				15322546;15467982;16155189		False	1	0;0;100	1.116	True		ENSG00000135541	ENSG00000135541	HGNC:21575													
AHSP	gene	AHSP	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Thalassaemia						False	1	0;0;0	1.116	False		ENSG00000169877	ENSG00000169877	HGNC:18075													
AIFM1	gene	AIFM1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Combined oxidative phosphorylation deficiency 6, 300816;Cowchock syndrome, 310490;Deafness, X-linked 5, 300614;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232						False	1	0;0;100	1.116	True		ENSG00000156709	ENSG00000156709	HGNC:8768													
AIP	gene	AIP	BabySeq Category B gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pituitary adenoma predisposition, MIM# 102200						False	1	0;0;100	1.116	True		ENSG00000110711	ENSG00000110711	HGNC:358													
AK1	gene	AK1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hemolytic anemia due to adenylate kinase deficiency						False	1	0;0;0	1.116	False		ENSG00000106992	ENSG00000106992	HGNC:361													
AKAP9	gene	AKAP9	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome						False	1	0;0;0	1.116	False		ENSG00000127914	ENSG00000127914	HGNC:379													
AKT2	gene	AKT2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Severe insulin resistance and diabetes mellitus						False	1	0;0;0	1.116	False		ENSG00000105221	ENSG00000105221	HGNC:392													
AKT3	gene	AKT3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome						False	1	0;0;0	1.116	False		ENSG00000117020	ENSG00000117020	HGNC:393													
ALAS2	gene	ALAS2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Anaemia, sideroblastic, 1, MIM# 300751;Protoporphyria, erythropoietic, X-linked, MIM# 300752						False	1	0;0;100	1.116	True		ENSG00000158578	ENSG00000158578	HGNC:397													
ALB	gene	ALB	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Analbuminemia, MIM# 616000						False	1	0;0;100	1.116	True		ENSG00000163631	ENSG00000163631	HGNC:399													
ALDH18A1	gene	ALDH18A1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IIIA MIM#219150;Spastic paraplegia 9A, autosomal dominant MIM#601162;Spastic paraplegia 9B, autosomal recessive MIM#616586;Cutis laxa, autosomal dominant 3 MIM#616603;disorders of ornithine or proline metabolism						False	1	0;0;100	1.116	True		ENSG00000059573	ENSG00000059573	HGNC:9722													
ALDH1A2	gene	ALDH1A2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tetralogy of Fallot						False	1	0;0;0	1.116	False		ENSG00000128918	ENSG00000128918	HGNC:15472													
ALDH3A2	gene	ALDH3A2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Sjogren-Larsson syndrome MIM#270200						False	1	0;0;100	1.116	True		ENSG00000072210	ENSG00000072210	HGNC:403													
ALDH5A1	gene	ALDH5A1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Succinic semialdehyde dehydrogenase deficiency, MIM# 271980						False	1	0;0;100	1.116	True		ENSG00000112294	ENSG00000112294	HGNC:408													
ALDOA	gene	ALDOA	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Aldolase A deficiency						False	1	0;0;0	1.116	False		ENSG00000149925	ENSG00000149925	HGNC:414													
ALG1	gene	ALG1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ik 608540						False	1	0;0;100	1.116	True		ENSG00000033011	ENSG00000033011	HGNC:18294													
ALG11	gene	ALG11	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation type 1P						False	1	0;0;0	1.116	False		ENSG00000253710	ENSG00000253710	HGNC:32456													
ALG12	gene	ALG12	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ig, MIM# 607143						False	1	0;0;100	1.116	True		ENSG00000182858	ENSG00000182858	HGNC:19358													
ALG14	gene	ALG14	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Myasthenic syndrome, congenital, 15, without tubular aggregates 616227;Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031;Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036;Disorder of N-glycosylation						False	1	0;0;100	1.116	True		ENSG00000172339	ENSG00000172339	HGNC:28287													
ALG2	gene	ALG2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ii						False	1	0;0;0	1.116	False		ENSG00000119523	ENSG00000119523	HGNC:23159													
ALG3	gene	ALG3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Id, MIM# 601110						False	1	0;0;100	1.116	True		ENSG00000214160	ENSG00000214160	HGNC:23056													
ALG6	gene	ALG6	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ic (MIM#603147)						False	1	0;0;100	1.116	True		ENSG00000088035	ENSG00000088035	HGNC:23157													
ALG8	gene	ALG8	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ih, MIM# 608104						False	1	0;0;100	1.116	True		ENSG00000159063	ENSG00000159063	HGNC:23161													
ALG9	gene	ALG9	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210;Congenital disorder of glycosylation, type Il, MIM#608776				26453364;25966638;28932688		False	1	0;0;100	1.116	True		ENSG00000086848	ENSG00000086848	HGNC:15672													
ALK	gene	ALK	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Neuroblastoma, susceptibility to, 3} MIM#613014				PMID: 22071890		False	1	0;0;100	1.116	True		ENSG00000171094	ENSG00000171094	HGNC:427													
ALMS1	gene	ALMS1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Alstrom syndrome, MIM# 203800						False	1	0;0;100	1.116	True		ENSG00000116127	ENSG00000116127	HGNC:428													
ALOX12B	gene	ALOX12B	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 2, MIM# 242100						False	1	0;0;100	1.116	True		ENSG00000179477	ENSG00000179477	HGNC:430													
ALOXE3	gene	ALOXE3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 3, MIM#606545						False	1	0;0;100	1.116	True		ENSG00000179148	ENSG00000179148	HGNC:13743													
ALS2	gene	ALS2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Infantile onset ascending spastic paralysis (MIM#607225);Juvenile amyotrophic lateral sclerosis 2 (MIM#205100);Juvenile primary lateral sclerosis (MIM#606353)						False	1	0;0;100	1.116	True		ENSG00000003393	ENSG00000003393	HGNC:443													
ALX4	gene	ALX4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Frontonasal dysplasia 2 MIM# 613451;Parietal foramina 2 MIM# 609597;{Craniosynostosis 5, susceptibility to} MIM#615529						False	1	0;0;100	1.116	True		ENSG00000052850	ENSG00000052850	HGNC:450													
AMELX	gene	AMELX	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Amelogenesis imperfecta, type 1E, MIM# 301200						False	1	0;0;100	1.116	True		ENSG00000125363	ENSG00000125363	HGNC:461													
AMPD1	gene	AMPD1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Adenosine monophosphate deaminase deficiency						False	1	0;0;0	1.116	False		ENSG00000116748	ENSG00000116748	HGNC:468													
ANK1	gene	ANK1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spherocytosis, type 1 MIM#182900						False	1	0;0;100	1.116	True		ENSG00000029534	ENSG00000029534	HGNC:492													
ANK2	gene	ANK2	BabySeq Category B gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Complex neurodevelopmental disorder, MONDO:0100038						False	1	0;0;100	1.116	True		ENSG00000145362	ENSG00000145362	HGNC:493													
ANKH	gene	ANKH	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Craniometaphyseal dysplasia MIM#123000						False	1	0;0;100	1.116	True		ENSG00000154122	ENSG00000154122	HGNC:15492													
ANKRD1	gene	ANKRD1	BabySeq Category B gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, hypertrophic;Cardiomyopathy, dilated						False	1	0;0;0	1.116	False		ENSG00000148677	ENSG00000148677	HGNC:15819													
ANKRD26	gene	ANKRD26	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thrombocytopaenia 2, MIM# 188000						False	1	0;0;100	1.116	True		ENSG00000107890	ENSG00000107890	HGNC:29186													
ANO10	gene	ANO10	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 10, MIM#613728						False	1	0;0;100	1.116	True		ENSG00000160746	ENSG00000160746	HGNC:25519													
ANO5	gene	ANO5	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Muscular dystrophy, limb-girdle, type 2L;Gnathodiaphyseal dysplasia						False	1	0;0;0	1.116	False		ENSG00000171714	ENSG00000171714	HGNC:27337													
ANTXR2	gene	ANTXR2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyaline fibromatosis syndrome, MIM# 228600;MONDO:0009229						False	1	0;0;100	1.116	True		ENSG00000163297	ENSG00000163297	HGNC:21732													
AP1S3	gene	AP1S3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pustular psoriasis						False	1	0;0;0	1.116	False		ENSG00000152056	ENSG00000152056	HGNC:18971													
AP4B1	gene	AP4B1	Expert Review;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 47, autosomal recessive, MIM# 614066				24700674;32979048;32166732;32171285;22290197;21620353;31525725;24781758		False	1	0;0;100	1.116	True		ENSG00000134262	ENSG00000134262	HGNC:572													
AP4E1	gene	AP4E1	Expert Review;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 51, autosomal recessive, MIM# 613744				20972249;32979048;23472171;21620353;21937992		False	1	0;0;100	1.116	True		ENSG00000081014	ENSG00000081014	HGNC:573													
AP4M1	gene	AP4M1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Spastic paraplegia 50, autosomal recessive, MIM#	612936"				31915823;32979048;19559397;25496299;21937992;28464862;29096665		False	1	0;0;100	1.116	True		ENSG00000221838	ENSG00000221838	HGNC:574													
APC	gene	APC	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Adenomatous polyposis coli, MIM# 175100						False	1	0;0;100	1.116	True		ENSG00000134982	ENSG00000134982	HGNC:583													
APOA5	gene	APOA5	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Hyperchylomicronaemia, late-onset, MIM#	144650"				23307945;31390500		False	1	0;0;100	1.116	True		ENSG00000110243	ENSG00000110243	HGNC:17288													
APOB	gene	APOB	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypercholesterolaemia, familial, 2, MIM# 144010						False	1	0;0;100	1.116	True		ENSG00000084674	ENSG00000084674	HGNC:603													
APOE	gene	APOE	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Sea-blue histiocyte disease						False	1	0;0;0	1.116	False		ENSG00000130203	ENSG00000130203	HGNC:613													
APP	gene	APP	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alzheimer disease 1, familial						False	1	0;0;0	1.116	False		ENSG00000142192	ENSG00000142192	HGNC:620													
APRT	gene	APRT	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Adenine phosphoribosyltransferase deficiency, MIM#	614723"						False	1	0;0;100	1.116	True		ENSG00000198931	ENSG00000198931	HGNC:626													
APTX	gene	APTX	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920				30986824;26256098;11586299		False	1	0;0;100	1.116	True		ENSG00000137074	ENSG00000137074	HGNC:15984													
AR	gene	AR	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Hypospadias 1, X-linked MIM#30063;Androgen insensitivity MIM#300068;Androgen insensitivity, partial, with or without breast cancer MIM#312300						False	1	0;0;100	1.116	True		ENSG00000169083	ENSG00000169083	HGNC:644													
ARFGEF2	gene	ARFGEF2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Periventricular heterotopia with microcephaly (MIM#608097)						False	1	0;0;100	1.116	True		ENSG00000124198	ENSG00000124198	HGNC:15853													
ARHGAP31	gene	ARHGAP31	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Syndromic cutis aplasia & limb anomalies						False	1	0;0;0	1.116	False		ENSG00000031081	ENSG00000031081	HGNC:29216													
ARHGEF9	gene	ARHGEF9	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Hyperekplexia and epilepsy						False	1	0;0;0	1.116	False		ENSG00000131089	ENSG00000131089	HGNC:14561													
ARID1A	gene	ARID1A	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome						False	1	0;0;0	1.116	False		ENSG00000117713	ENSG00000117713	HGNC:11110													
ARID1B	gene	ARID1B	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome 1 MIM#135900						False	1	0;0;100	1.116	True		ENSG00000049618	ENSG00000049618	HGNC:18040													
ARL13B	gene	ARL13B	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome						False	1	0;0;0	1.116	False		ENSG00000169379	ENSG00000169379	HGNC:25419													
ARMC4	gene	ARMC4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 23, MIM# 615451						False	1	0;0;100	1.116	True		ENSG00000169126	ENSG00000169126	HGNC:25583													
ARSE	gene	ARSE	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Chondrodysplasia punctata, X-linked recessive						False	1	0;0;0	1.116	False		ENSG00000157399	ENSG00000157399	HGNC:719													
ARX	gene	ARX	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lissencephaly, X-linked 2, MIM# 300215						False	1	0;0;100	1.116	True		ENSG00000004848	ENSG00000004848	HGNC:18060													
ASCL1	gene	ASCL1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital central hypoventilation						False	1	0;0;0	1.116	False		ENSG00000139352	ENSG00000139352	HGNC:738													
ASNS	gene	ASNS	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, intellectual disability, cerebral atrophy & intractable seizures						False	1	0;0;0	1.116	False		ENSG00000070669	ENSG00000070669	HGNC:753													
ASPA	gene	ASPA	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Canavan disease MIM#271900						False	1	0;0;100	1.116	True		ENSG00000108381	ENSG00000108381	HGNC:756													
ATIC	gene	ATIC	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	AICA-Ribosiduria						False	1	0;0;0	1.116	False		ENSG00000138363	ENSG00000138363	HGNC:794													
ATM	gene	ATM	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ataxia-telangiectasia, MIM# 208900						False	1	0;0;100	1.116	True		ENSG00000149311	ENSG00000149311	HGNC:795													
ATN1	gene	ATN1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dentatorubral-pallidoluysian atrophy 1						False	1	0;0;0	1.116	False		ENSG00000111676	ENSG00000111676	HGNC:3033													
ATP1A2	gene	ATP1A2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Alternating hemiplegia of childhood 1, MIM#104290;Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602;Developmental and epileptic encephalopathy 98, MIM# 619605				31608932;33880529		False	1	0;0;100	1.116	True		ENSG00000018625	ENSG00000018625	HGNC:800													
ATP1A3	gene	ATP1A3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Rapid-onset dystonia-parkinsonism						False	1	0;0;0	1.116	False		ENSG00000105409	ENSG00000105409	HGNC:801													
ATP2A1	gene	ATP2A1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Brody myopathy, OMIM # 601003						False	1	0;0;100	1.116	True		ENSG00000196296	ENSG00000196296	HGNC:811													
ATP2B2	gene	ATP2B2	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Deafness, autosomal dominant 82, MIM# 619804				30535804		False	1	0;0;100	1.116	True		ENSG00000157087	ENSG00000157087	HGNC:815													
ATP6AP2	gene	ATP6AP2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	X-linked recessive intellectual deficit - epilepsy						False	1	0;0;0	1.116	False		ENSG00000182220	ENSG00000182220	HGNC:18305													
ATP6V0A2	gene	ATP6V0A2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IIA, MIM# 219200;Wrinkly skin syndrome, MIM#278250						False	1	0;0;100	1.116	True		ENSG00000185344	ENSG00000185344	HGNC:18481													
ATP8B1	gene	ATP8B1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cholestasis, progressive familial intrahepatic 1, MIM# 211600;Cholestasis, benign recurrent intrahepatic, MIM# 243300						False	1	0;0;100	1.116	True		ENSG00000081923	ENSG00000081923	HGNC:3706													
ATR	gene	ATR	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome						False	1	0;0;0	1.116	False		ENSG00000175054	ENSG00000175054	HGNC:882													
ATRX	gene	ATRX	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	ATR-X-related syndrome MONDO:0016980						False	1	0;0;100	1.116	True		ENSG00000085224	ENSG00000085224	HGNC:886													
AUH	gene	AUH	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	3-methylglutaconic aciduria, type I , MIM#250950						False	1	0;0;100	1.116	True		ENSG00000148090	ENSG00000148090	HGNC:890													
AXL	gene	AXL	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypogonadotropic hypogonadism						False	1	0;0;0	1.116	False		ENSG00000167601	ENSG00000167601	HGNC:905													
B3GAT3	gene	B3GAT3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects						False	1	0;0;0	1.116	False		ENSG00000149541	ENSG00000149541	HGNC:923													
B3GLCT	gene	B3GLCT	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Peters-plus syndrome, MIM#261540						False	1	0;0;100	1.116	True		ENSG00000187676	ENSG00000187676	HGNC:20207													
B4GALT1	gene	B4GALT1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	CDG syndrome type IId						False	1	0;0;0	1.116	False		ENSG00000086062	ENSG00000086062	HGNC:924													
B9D2	gene	B9D2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome						False	1	0;0;0	1.116	False		ENSG00000123810	ENSG00000123810	HGNC:28636													
BAAT	gene	BAAT	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Bile acid conjugation defect 1, MIM# 619232						False	1	0;0;100	1.116	True		ENSG00000136881	ENSG00000136881	HGNC:932													
BAG3	gene	BAG3	BabySeq Category B gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myopathy, myofibrillar;Cardiomyopathy, dilated						False	1	0;0;0	1.116	False		ENSG00000151929	ENSG00000151929	HGNC:939													
BANF1	gene	BANF1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Progeroid syndrome						False	1	0;0;0	1.116	False		ENSG00000175334	ENSG00000175334	HGNC:17397													
BARD1	gene	BARD1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tetralogy of Fallot						False	1	0;0;0	1.116	False		ENSG00000138376	ENSG00000138376	HGNC:952													
BBS1	gene	BBS1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 1, MIM# 209900						False	1	0;0;100	1.116	True		ENSG00000174483	ENSG00000174483	HGNC:966													
BBS10	gene	BBS10	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 10, MIM# 615987						False	1	0;0;100	1.116	True		ENSG00000179941	ENSG00000179941	HGNC:26291													
BBS12	gene	BBS12	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 12, MIM# 615989						False	1	0;0;100	1.116	True		ENSG00000181004	ENSG00000181004	HGNC:26648													
BBS2	gene	BBS2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 2, MIM# 615981						False	1	0;0;100	1.116	True		ENSG00000125124	ENSG00000125124	HGNC:967													
BBS4	gene	BBS4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 4, MIM#615982						False	1	0;0;100	1.116	True		ENSG00000140463	ENSG00000140463	HGNC:969													
BBS5	gene	BBS5	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 5, MIM#615983						False	1	0;0;100	1.116	True		ENSG00000163093	ENSG00000163093	HGNC:970													
BBS7	gene	BBS7	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 7, MIM# 615984						False	1	0;0;100	1.116	True		ENSG00000138686	ENSG00000138686	HGNC:18758													
BBS9	gene	BBS9	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 9, MIM#615986						False	1	0;0;100	1.116	True		ENSG00000122507	ENSG00000122507	HGNC:30000													
BCL9	gene	BCL9	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease						False	1	0;0;0	1.116	False		ENSG00000116128	ENSG00000116128	HGNC:1008													
BCS1L	gene	BCS1L	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Bjornstad syndrome, MIM# 262000;Leigh syndrome, MIM# 256000;BCS1L-related mitochondrial disease						False	1	0;0;100	1.116	True		ENSG00000074582	ENSG00000074582	HGNC:1020													
BDNF	gene	BDNF	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Central hypoventilation syndrome						False	1	0;0;0	1.116	False		ENSG00000176697	ENSG00000176697	HGNC:1033													
BICD2	gene	BICD2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290;MONDO:0014121;Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291;Neurodevelopmental disorder (MONDO#0700092), BICD2-related				23664116;23664119;23664120;27751653;28635954;30054298;29528393;35896821		False	1	0;0;100	1.116	True		ENSG00000185963	ENSG00000185963	HGNC:17208													
BIN1	gene	BIN1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Centronuclear myopathy 2, MIM# 255200						False	1	0;0;100	1.116	True		ENSG00000136717	ENSG00000136717	HGNC:1052													
BLM	gene	BLM	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Bloom syndrome, MIM# 210900						False	1	0;0;100	1.116	True		ENSG00000197299	ENSG00000197299	HGNC:1058													
BLOC1S3	gene	BLOC1S3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 8						False	1	0;0;0	1.116	False		ENSG00000189114	ENSG00000189114	HGNC:20914													
BLOC1S6	gene	BLOC1S6	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-pudlak syndrome 9						False	1	0;0;0	1.116	False		ENSG00000104164	ENSG00000104164	HGNC:8549													
BMPR1A	gene	BMPR1A	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polyposis, juvenile intestinal, MIM# 174900						False	1	0;0;100	1.116	True		ENSG00000107779	ENSG00000107779	HGNC:1076													
BMPR2	gene	BMPR2	BabySeq Category B gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pulmonary hypertension, familial primary, 1, with or without HHT, MIM# 178600						False	1	0;0;100	1.116	True		ENSG00000204217	ENSG00000204217	HGNC:1078													
BNC2	gene	BNC2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Total anomalous pulmonary venous return						False	1	0;0;0	1.116	False		ENSG00000173068	ENSG00000173068	HGNC:30988													
BPGM	gene	BPGM	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Erythrocytosis due to bisphosphoglycerate mutase deficiency						False	1	0;0;0	1.116	False		ENSG00000172331	ENSG00000172331	HGNC:1093													
BRAF	gene	BRAF	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiofaciocutaneous syndrome, MIM# 115150;Noonan syndrome 7, MIM# 613706						False	1	0;0;100	1.116	True		ENSG00000157764	ENSG00000157764	HGNC:1097													
BVES	gene	BVES	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease						False	1	0;0;0	1.116	False		ENSG00000112276	ENSG00000112276	HGNC:1152													
C8A	gene	C8A	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"C8 deficiency, type I, MIM#	613790"						False	1	0;0;100	1.116	True		ENSG00000157131	ENSG00000157131	HGNC:1352													
CACNA1A	gene	CACNA1A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Episodic ataxia, type 2, MIM# 108500						False	1	0;0;100	1.116	True		ENSG00000141837	ENSG00000141837	HGNC:1388													
CACNA1D	gene	CACNA1D	BabySeq Category C gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Primary aldosteronism, seizures, and neurologic abnormalities, MIM#	615474;Sinoatrial node dysfunction and deafness"						False	1	0;0;0	1.116	False		ENSG00000157388	ENSG00000157388	HGNC:1391													
CACNA1F	gene	CACNA1F	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Aland Island eye disease MIM#300600;Cone-rod dystrophy, X-linked, 3 MIM#300476;Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071						False	1	0;0;100	1.116	True		ENSG00000102001	ENSG00000102001	HGNC:1393													
CACNA2D1	gene	CACNA2D1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome						False	1	0;0;0	1.116	False		ENSG00000153956	ENSG00000153956	HGNC:1399													
CACNB2	gene	CACNB2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome						False	1	0;0;0	1.116	False		ENSG00000165995	ENSG00000165995	HGNC:1402													
CAPN3	gene	CAPN3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600						False	1	0;0;100	1.116	True		ENSG00000092529	ENSG00000092529	HGNC:1480													
CARS2	gene	CARS2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy						False	1	0;0;0	1.116	False		ENSG00000134905	ENSG00000134905	HGNC:25695													
CASK	gene	CASK	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	FG syndrome 4 MIM#300422;Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749;Mental retardation, with or without nystagmus MIM#300422						False	1	0;0;100	1.116	True		ENSG00000147044	ENSG00000147044	HGNC:1497													
CASP10	gene	CASP10	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Autoimmune lymphoproliferative syndrome II						False	1	0;0;0	1.116	False		ENSG00000003400	ENSG00000003400	HGNC:1500													
CAV3	gene	CAV3	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myopathy, distal, Tateyama type MIM#614321;Rippling muscle disease 2 MIM#606072;Creatine phosphokinase, elevated serum MIM#123320						False	1	0;0;100	1.116	True		ENSG00000182533	ENSG00000182533	HGNC:1529													
CAVIN4	gene	CAVIN4	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated						False	1	0;0;0	1.116	False		ENSG00000170681	ENSG00000170681	HGNC:33742													
CBL	gene	CBL	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563						False	1	0;0;100	1.116	True		ENSG00000110395	ENSG00000110395	HGNC:1541													
CC2D2A	gene	CC2D2A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 9, MIM# 612285;Meckel syndrome 6, MIM# 612284;COACH syndrome 2, MIM# 619111						False	1	0;0;100	1.116	True		ENSG00000048342	ENSG00000048342	HGNC:29253													
CCDC103	gene	CCDC103	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia						False	1	0;0;0	1.116	False		ENSG00000167131	ENSG00000167131	HGNC:32700													
CCDC39	gene	CCDC39	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 14, MIM# 613807						False	1	0;0;100	1.116	True		ENSG00000145075	ENSG00000145075	HGNC:25244													
CCDC40	gene	CCDC40	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 15, MIM#613808						False	1	0;0;100	1.116	True		ENSG00000141519	ENSG00000141519	HGNC:26090													
CCDC50	gene	CCDC50	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Deafness, autosomal dominant 44 , MIM# 607453				27911912;24875298;17503326		False	1	0;0;0	1.116	False		ENSG00000152492	ENSG00000152492	HGNC:18111													
CCDC78	gene	CCDC78	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital myopathy with prominent internal nuclei and atypical cores						False	1	0;0;0	1.116	False		ENSG00000162004	ENSG00000162004	HGNC:14153													
CCDC88C	gene	CCDC88C	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hydrocephalus						False	1	0;0;0	1.116	False		ENSG00000015133	ENSG00000015133	HGNC:19967													
CD164	gene	CD164	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Deafness, autosomal dominant 66  MIM#616969						False	1	0;0;100	1.116	True		ENSG00000135535	ENSG00000135535	HGNC:1632													
CD2AP	gene	CD2AP	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Glomerulosclerosis, focal segmental, 3						False	1	0;0;0	1.116	False		ENSG00000198087	ENSG00000198087	HGNC:14258													
CD36	gene	CD36	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Platelet glycoprotein IV deficiency						False	1	0;0;0	1.116	False		ENSG00000135218	ENSG00000135218	HGNC:1663													
CD46	gene	CD46	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Haemolytic uraemic syndrome						False	1	0;0;0	1.116	False		ENSG00000117335	ENSG00000117335	HGNC:6953													
CD81	gene	CD81	Expert Review;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency, common variable, 6, MIM# 613496				20237408		False	1	0;0;100	1.116	True		ENSG00000110651	ENSG00000110651	HGNC:1701													
CD96	gene	CD96	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	C syndrome						False	1	0;0;0	1.116	False		ENSG00000153283	ENSG00000153283	HGNC:16892													
CDAN1	gene	CDAN1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Dyserythropoietic anaemia, congenital, type Ia, MIM#224120						False	1	0;0;100	1.116	True		ENSG00000140326	ENSG00000140326	HGNC:1713													
CDH1	gene	CDH1	BabySeq Category B gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Orofacial clefts;Gastric cancer						False	1	0;0;0	1.116	False		ENSG00000039068	ENSG00000039068	HGNC:1748													
CDK5RAP2	gene	CDK5RAP2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 3, primary, autosomal recessive, MIM# 604804;MONDO:0011488						False	1	0;0;100	1.116	True		ENSG00000136861	ENSG00000136861	HGNC:18672													
CDKL5	gene	CDKL5	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Epileptic encephalopathy, early infantile, 2, MIM 300672						False	1	0;0;100	1.116	True		ENSG00000008086	ENSG00000008086	HGNC:11411													
CDKN2A	gene	CDKN2A	BabySeq Category B gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Melanoma, cutaneous malignant, 2}, MIM# 155601						False	1	0;0;100	1.116	True		ENSG00000147889	ENSG00000147889	HGNC:1787													
CDON	gene	CDON	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly						False	1	0;0;0	1.116	False		ENSG00000064309	ENSG00000064309	HGNC:17104													
CDSN	gene	CDSN	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Peeling skin syndrome 1, MIM#270300						False	1	0;0;100	1.116	True		ENSG00000204539	ENSG00000204539	HGNC:1802													
CDT1	gene	CDT1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 4, MIM# 613804;MONDO:0013431				22333897;21358632;21358631;33338304		False	1	0;0;100	1.116	True		ENSG00000167513	ENSG00000167513	HGNC:24576													
CEACAM16	gene	CEACAM16	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hearing loss, autosomal dominant						False	1	0;0;0	1.116	False		ENSG00000213892	ENSG00000213892	HGNC:31948													
CENPJ	gene	CENPJ	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Primary microcephaly						False	1	0;0;0	1.116	False		ENSG00000151849	ENSG00000151849	HGNC:17272													
CEP152	gene	CEP152	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 9, primary, autosomal recessive, MIM# 614852;Seckel syndrome 5, MIM# 613823						False	1	0;0;100	1.116	True		ENSG00000103995	ENSG00000103995	HGNC:29298													
CEP250	gene	CEP250	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cone-rod dystrophy and hearing loss 2 MIM#618358				PMID: 34223797, PMID: 29718797, PMID: 30459346, PMID: 28005958		False	1	0;0;100	1.116	True		ENSG00000126001	ENSG00000126001	HGNC:1859													
CEP290	gene	CEP290	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 14, MIM# 615991;Joubert syndrome 5 610188;Leber congenital amaurosis 10, MIM# 611755;Meckel syndrome 4, MIM# 611134;Senior-Loken syndrome 6, MIM# 610189						False	1	0;0;100	1.116	True		ENSG00000198707	ENSG00000198707	HGNC:29021													
CEP41	gene	CEP41	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome						False	1	0;0;0	1.116	False		ENSG00000106477	ENSG00000106477	HGNC:12370													
CEP78	gene	CEP78	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cone-rod dystrophy and hearing loss MIM#617236						False	1	0;0;100	1.116	True		ENSG00000148019	ENSG00000148019	HGNC:25740													
CEP83	gene	CEP83	Expert Review;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 18, MIM# 615862;ID;MONDO:0014374;Retinal dystrophy				33938610;24882706		False	1	0;0;100	1.116	True		ENSG00000173588	ENSG00000173588	HGNC:17966													
CFB	gene	CFB	BabySeq Category C gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Haemolytic uraemic syndrome;Haemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM#	612924"						False	1	0;0;0	1.116	False		ENSG00000243649	ENSG00000243649	HGNC:1037													
CFC1	gene	CFC1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Heterotaxy, visceral, 2, autosomal MIM#605376						False	1	0;0;100	1.116	True		ENSG00000136698	ENSG00000136698	HGNC:18292													
CFHR1	gene	CFHR1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Haemolytic uraemic syndrome						False	1	0;0;0	1.116	False		ENSG00000244414	ENSG00000244414	HGNC:4888													
CFHR3	gene	CFHR3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Haemolytic uraemic syndrome						False	1	0;0;0	1.116	False		ENSG00000116785	ENSG00000116785	HGNC:16980													
CFHR4	gene	CFHR4	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	Unknown	Hemolytic-uremic syndrome, atypical, susceptibility to						False	1	0;0;0	1.116	False		ENSG00000134365	ENSG00000134365	HGNC:16979													
CFHR5	gene	CFHR5	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Haemolytic uraemic syndrome						False	1	0;0;0	1.116	False		ENSG00000134389	ENSG00000134389	HGNC:24668													
CFL2	gene	CFL2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nemaline myopathy 7, autosomal recessive, MIM# 610687						False	1	0;0;100	1.116	True		ENSG00000165410	ENSG00000165410	HGNC:1875													
CHD2	gene	CHD2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epileptic encephalopathy, childhood-onset (MIM # 615369)						False	1	0;0;100	1.116	True		ENSG00000173575	ENSG00000173575	HGNC:1917													
CHD7	gene	CHD7	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CHARGE syndrome, MIM# 214800						False	1	0;0;100	1.116	True		ENSG00000171316	ENSG00000171316	HGNC:20626													
CHEK2	gene	CHEK2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Breast cancer, susceptibility to						False	1	0;0;0	1.116	False		ENSG00000183765	ENSG00000183765	HGNC:16627													
CHKB	gene	CHKB	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, congenital, megaconial type, MIM# 602541						False	1	0;0;100	1.116	True		ENSG00000100288	ENSG00000100288	HGNC:1938													
CHM	gene	CHM	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Choroideraemia MIM#303100						False	1	0;0;100	1.116	True		ENSG00000188419	ENSG00000188419	HGNC:1940													
CHRM2	gene	CHRM2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated						False	1	0;0;0	1.116	False		ENSG00000181072	ENSG00000181072	HGNC:1951													
CHRNA2	gene	CHRNA2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy						False	1	0;0;0	1.116	False		ENSG00000120903	ENSG00000120903	HGNC:1956													
CHRNG	gene	CHRNG	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Escobar syndrome, MIM# 265000;Multiple pterygium syndrome, lethal type, MIM# 253290						False	1	0;0;100	1.116	True		ENSG00000196811	ENSG00000196811	HGNC:1967													
CHST3	gene	CHST3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Larsen syndrome						False	1	0;0;0	1.116	False		ENSG00000122863	ENSG00000122863	HGNC:1971													
CHSY1	gene	CHSY1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Temtamy preaxial brachydactyly syndrome						False	1	0;0;0	1.116	False		ENSG00000131873	ENSG00000131873	HGNC:17198													
CISD2	gene	CISD2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Wolfram syndrome						False	1	0;0;0	1.116	False		ENSG00000145354	ENSG00000145354	HGNC:24212													
CITED2	gene	CITED2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart defects						False	1	0;0;0	1.116	False		ENSG00000164442	ENSG00000164442	HGNC:1987													
CLCN1	gene	CLCN1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Myotonia congenita, recessive, MIM# 255700;Myotonia congenita, dominant, MIM# 160800						False	1	0;0;0	1.116	False		ENSG00000188037	ENSG00000188037	HGNC:2019													
CLCN5	gene	CLCN5	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Dent disease, MIM#300009						False	1	0;0;100	1.116	True		ENSG00000171365	ENSG00000171365	HGNC:2023													
CLDN1	gene	CLDN1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis						False	1	0;0;0	1.116	False		ENSG00000163347	ENSG00000163347	HGNC:2032													
CLDN19	gene	CLDN19	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Deafness, autosomal recessive 116 MIM#619093						False	1	0;0;100	1.116	True		ENSG00000164007	ENSG00000164007	HGNC:2040													
CLDN9	gene	CLDN9	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Deafness, autosomal recessive 116  MIM#619093				PMID: 34265170		False	1	0;0;100	1.116	True		ENSG00000213937	ENSG00000213937	HGNC:2051													
CLMP	gene	CLMP	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital short-bowel syndrome						False	1	0;0;0	1.116	False		ENSG00000166250	ENSG00000166250	HGNC:24039													
CLN8	gene	CLN8	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 8, MIM# 600143;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003				33242182		False	1	33;33;33	1.116	True		ENSG00000182372	ENSG00000182372	HGNC:2079													
CLRN1	gene	CLRN1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 3A, MIM# 276902						False	1	0;0;100	1.116	True		ENSG00000163646	ENSG00000163646	HGNC:12605													
CNGB3	gene	CNGB3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Achromatopsia 3, MIM# 262300						False	1	0;0;100	1.116	True		ENSG00000170289	ENSG00000170289	HGNC:2153													
CNTNAP2	gene	CNTNAP2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	Unknown	Autism spectrum disorder						False	1	0;0;0	1.116	False		ENSG00000174469	ENSG00000174469	HGNC:13830													
COG4	gene	COG4	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIj						False	1	0;0;0	1.116	False		ENSG00000103051	ENSG00000103051	HGNC:18620													
COG5	gene	COG5	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIi, MIM# 613612				32174980;23228021;31572517		False	1	0;0;100	1.116	True		ENSG00000164597	ENSG00000164597	HGNC:14857													
COG7	gene	COG7	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIe						False	1	0;0;0	1.116	False		ENSG00000168434	ENSG00000168434	HGNC:18622													
COL17A1	gene	COL17A1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Epidermolysis bullosa, junctional 4, intermediate MIM#619787						False	1	0;0;100	1.116	True		ENSG00000065618	ENSG00000065618	HGNC:2194													
COL4A6	gene	COL4A6	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Deafness, X-linked 6 MIM#300914				PMID: 33840813, PMID: 23714752		False	1	50;0;50	1.116	True		ENSG00000197565	ENSG00000197565	HGNC:2208													
COL5A1	gene	COL5A1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ehlers-Danlos syndrome, classic type, 1, MIM# 130000;Fibromuscular dysplasia, multifocal, MIM# 619329						False	1	0;0;100	1.116	True		ENSG00000130635	ENSG00000130635	HGNC:2209													
COL5A2	gene	COL5A2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ehlers-Danlos syndrome, classic type, 2 MIM#130010						False	1	0;0;100	1.116	True		ENSG00000204262	ENSG00000204262	HGNC:2210													
COL6A1	gene	COL6A1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Bethlem myopathy MIM#158810;Ullrich congenital muscular dystrophy MIM#254090						False	1	0;0;100	1.116	True		ENSG00000142156	ENSG00000142156	HGNC:2211													
COL6A2	gene	COL6A2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Bethlem myopathy 1 MIM#158810;Ullrich congenital muscular dystrophy 1 MIM#254090						False	1	0;0;100	1.116	True		ENSG00000142173	ENSG00000142173	HGNC:2212													
COL6A3	gene	COL6A3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Bethlem myopathy 1 MIM#158810;Dystonia 27 MIM#616411;Ullrich congenital muscular dystrophy 1 MIM#254090						False	1	0;0;100	1.116	True		ENSG00000163359	ENSG00000163359	HGNC:2213													
COL7A1	gene	COL7A1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	EBD inversa, MIM# 226600;EBD, Bart type MIM# 132000 EBD, localisata variant;Epidermolysis bullosa dystrophica, MIM# 131750;Epidermolysis bullosa dystrophica, 226600;Epidermolysis bullosa pruriginosa 604129;Epidermolysis bullosa, pretibial, MIM# 131850;Transient bullous of the newborn 131705						False	1	0;0;100	1.116	True		ENSG00000114270	ENSG00000114270	HGNC:2214													
COQ8B	gene	COQ8B	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Nephrotic syndrome, type 9, MIM#	615573"						False	1	0;50;50	1.116	True		ENSG00000123815	ENSG00000123815	HGNC:19041													
COQ9	gene	COQ9	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Coenzyme Q10 deficiency, primary, 5	, MIM#614654"						False	1	0;50;50	1.116	True		ENSG00000088682	ENSG00000088682	HGNC:25302													
COX4I2	gene	COX4I2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis						False	1	0;0;0	1.116	False		ENSG00000131055	ENSG00000131055	HGNC:16232													
CPOX	gene	CPOX	BabySeq Category C gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Coproporphyria;Coproporphyria	, MIM#121300"						False	1	0;0;0	1.116	False		ENSG00000080819	ENSG00000080819	HGNC:2321													
CPZ	gene	CPZ	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Autism						False	1	0;0;0	1.116	False		ENSG00000109625	ENSG00000109625	HGNC:2333													
CR2	gene	CR2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency, common variable, 7, MIM# 614699						False	1	0;0;100	1.116	True		ENSG00000117322	ENSG00000117322	HGNC:2336													
CREBBP	gene	CREBBP	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Rubinstein-Taybi syndrome 1, MIM# 180849;Menke-Hennekam syndrome 1, MIM# 618332						False	1	0;0;100	1.116	True		ENSG00000005339	ENSG00000005339	HGNC:2348													
CRELD1	gene	CRELD1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiac atrioventricular septal defect						False	1	0;0;0	1.116	False		ENSG00000163703	ENSG00000163703	HGNC:14630													
CRLF1	gene	CRLF1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cold-induced sweating syndrome 1, MIM# 272430						False	1	0;0;100	1.116	True		ENSG00000006016	ENSG00000006016	HGNC:2364													
CRYM	gene	CRYM	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Deafness, autosomal dominant 40	MIM#616357"				PMID: 12471561, 32742378		False	1	0;0;100	1.116	True		ENSG00000103316	ENSG00000103316	HGNC:2418													
CSF1R	gene	CSF1R	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Leukoencephalopathy, diffuse hereditary, with spheroids						False	1	0;0;0	1.116	False		ENSG00000182578	ENSG00000182578	HGNC:2433													
CSF2RA	gene	CSF2RA	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770				25425184;18955570;20622029		False	1	0;0;100	1.116	True		ENSG00000198223	ENSG00000198223	HGNC:2435													
CSF2RB	gene	CSF2RB	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Pulmonary alveolar proteinosis						False	1	0;0;0	1.116	False		ENSG00000100368	ENSG00000100368	HGNC:2436													
CSRP3	gene	CSRP3	BabySeq Category B gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated, 1M;Cardiomyopathy, familial hypertrophic, 12						False	1	0;0;0	1.116	False		ENSG00000129170	ENSG00000129170	HGNC:2472													
CSTA	gene	CSTA	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Exfoliative ichthyosis						False	1	0;0;0	1.116	False		ENSG00000121552	ENSG00000121552	HGNC:2481													
CSTB	gene	CSTB	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800						False	1	0;0;100	1.116	True		ENSG00000160213	ENSG00000160213	HGNC:2482													
CTC1	gene	CTC1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199						False	1	0;0;100	1.116	True		ENSG00000178971	ENSG00000178971	HGNC:26169													
CTDP1	gene	CTDP1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital cataracts - facial dysmorphism - neuropathy						False	1	0;0;0	1.116	False		ENSG00000060069	ENSG00000060069	HGNC:2498													
CTF1	gene	CTF1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	Unknown	Cardiomyopathy, dilated						False	1	0;0;0	1.116	False		ENSG00000150281	ENSG00000150281	HGNC:2499													
CTR9	gene	CTR9	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Wilms tumour predisposition				PMID: 32412586		False	1	0;0;100	1.116	True		ENSG00000198730	ENSG00000198730	HGNC:16850													
CTSD	gene	CTSD	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 10, MIM# 610127						False	1	0;0;100	1.116	True		ENSG00000117984	ENSG00000117984	HGNC:2529													
CTSK	gene	CTSK	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Pycnodysostosis - MIM#265800						False	1	0;0;100	1.116	True		ENSG00000143387	ENSG00000143387	HGNC:2536													
CUL7	gene	CUL7	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	3-M syndrome 1, MIM# 273750						False	1	0;0;100	1.116	True		ENSG00000044090	ENSG00000044090	HGNC:21024													
CYCS	gene	CYCS	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thrombocytopenia 4						False	1	0;0;0	1.116	False		ENSG00000172115	ENSG00000172115	HGNC:19986													
CYP4F22	gene	CYP4F22	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 5, MIM# 604777						False	1	0;0;100	1.116	True		ENSG00000171954	ENSG00000171954	HGNC:26820													
CYP7A1	gene	CYP7A1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency						False	1	0;0;0	1.116	False		ENSG00000167910	ENSG00000167910	HGNC:2651													
D2HGDH	gene	D2HGDH	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	D-2-hydroxyglutaric aciduria MIM#600721						False	1	0;0;100	1.116	True		ENSG00000180902	ENSG00000180902	HGNC:28358													
DAG1	gene	DAG1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9						False	1	0;0;0	1.116	False		ENSG00000173402	ENSG00000173402	HGNC:2666													
DAPK3	gene	DAPK3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease						False	1	0;0;0	1.116	False		ENSG00000167657	ENSG00000167657	HGNC:2676													
DBH	gene	DBH	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Dopamine beta-hydroxylase deficiency						False	1	0;0;0	1.116	False		ENSG00000123454	ENSG00000123454	HGNC:2689													
DCTN1	gene	DCTN1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyotrophic lateral sclerosis						False	1	0;0;0	1.116	False		ENSG00000204843	ENSG00000204843	HGNC:2711													
DCX	gene	DCX	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lissencephaly, X-linked, MIM# 300067;Subcortical laminal heterotopia, X-linked 300067						False	1	0;0;100	1.116	True		ENSG00000077279	ENSG00000077279	HGNC:2714													
DDB2	gene	DDB2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740				32530099;32228487		False	1	0;0;100	1.116	True		ENSG00000134574	ENSG00000134574	HGNC:2718													
DDHD1	gene	DDHD1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia						False	1	0;0;0	1.116	False		ENSG00000100523	ENSG00000100523	HGNC:19714													
DDOST	gene	DDOST	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ir						False	1	0;0;0	1.116	False		ENSG00000244038	ENSG00000244038	HGNC:2728													
DDR2	gene	DDR2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665;Warburg-Cinotti syndrome, MIM# 618175						False	1	0;0;100	1.116	True		ENSG00000162733	ENSG00000162733	HGNC:2731													
DECR1	gene	DECR1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	2,4-Dienoyl-CoA reductase deficiency						False	1	0;0;0	1.116	False		ENSG00000104325	ENSG00000104325	HGNC:2753													
DFNA5	gene	DFNA5	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Deafness, autosomal dominant 5, MIM# 600994						False	1	0;0;100	1.116	True		ENSG00000105928	ENSG00000105928	HGNC:2810													
DGKE	gene	DGKE	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Haemolytic uraemic syndrome, atypical						False	1	0;0;0	1.116	False		ENSG00000153933	ENSG00000153933	HGNC:2852													
DGUOK	gene	DGUOK	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880						False	1	0;50;50	1.116	True		ENSG00000114956	ENSG00000114956	HGNC:2858													
DHCR24	gene	DHCR24	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Desmosterolosis						False	1	0;0;0	1.116	False		ENSG00000116133	ENSG00000116133	HGNC:2859													
DIABLO	gene	DIABLO	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Deafness, autosomal dominant						False	1	0;0;0	1.116	False		ENSG00000184047	ENSG00000184047	HGNC:21528													
DIAPH1	gene	DIAPH1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Seizures, cortical blindness, microcephaly syndrome, MIM# 616632;Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900						False	1	0;0;100	1.116	True		ENSG00000131504	ENSG00000131504	HGNC:2876													
DKC1	gene	DKC1	BabySeq Category B gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	"Dyskeratosis congenita, X-linked, MIM#	305000"						False	1	0;0;100	1.116	True		ENSG00000130826	ENSG00000130826	HGNC:2890													
DLC1	gene	DLC1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease						False	1	0;0;0	1.116	False		ENSG00000164741	ENSG00000164741	HGNC:2897													
DLD	gene	DLD	BabySeq Category A gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Maple syrup urine disease, type III, MIM#246900						False	1	0;0;100	1.116	True		ENSG00000091140	ENSG00000091140	HGNC:2898													
DLL3	gene	DLL3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300						False	1	0;0;100	1.116	True		ENSG00000090932	ENSG00000090932	HGNC:2909													
DMPK	gene	DMPK	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myotonic dystrophy 1, MIM# 160900						False	1	0;0;100	1.116	True		ENSG00000104936	ENSG00000104936	HGNC:2933													
DMXL2	gene	DMXL2	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 81, MIM#618663						False	1	0;0;100	1.116	True		ENSG00000104093	ENSG00000104093	HGNC:2938													
DNAAF1	gene	DNAAF1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 13, MIM# 613193						False	1	0;0;100	1.116	True		ENSG00000154099	ENSG00000154099	HGNC:30539													
DNAAF2	gene	DNAAF2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia						False	1	0;0;0	1.116	False		ENSG00000165506	ENSG00000165506	HGNC:20188													
DNAAF3	gene	DNAAF3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia						False	1	0;0;0	1.116	False		ENSG00000167646	ENSG00000167646	HGNC:30492													
DNAAF5	gene	DNAAF5	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia						False	1	0;0;0	1.116	False		ENSG00000164818	ENSG00000164818	HGNC:26013													
DNAH11	gene	DNAH11	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884						False	1	0;0;100	1.116	True		ENSG00000105877	ENSG00000105877	HGNC:2942													
DNAH5	gene	DNAH5	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644						False	1	0;0;100	1.116	True		ENSG00000039139	ENSG00000039139	HGNC:2950													
DNAI1	gene	DNAI1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400						False	1	0;0;100	1.116	True		ENSG00000122735	ENSG00000122735	HGNC:2954													
DNAI2	gene	DNAI2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia						False	1	0;0;0	1.116	False		ENSG00000171595	ENSG00000171595	HGNC:18744													
DNAJB6	gene	DNAJB6	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511						False	1	0;0;100	1.116	True		ENSG00000105993	ENSG00000105993	HGNC:14888													
DNAJC19	gene	DNAJC19	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	3-methylglutaconic aciduria, type V						False	1	0;0;0	1.116	False		ENSG00000205981	ENSG00000205981	HGNC:30528													
DNAJC5	gene	DNAJC5	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neuronal ceroid lipofuscinosis, adult-onset						False	1	0;0;0	1.116	False		ENSG00000101152	ENSG00000101152	HGNC:16235													
DNAL1	gene	DNAL1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia						False	1	0;0;0	1.116	False		ENSG00000119661	ENSG00000119661	HGNC:23247													
DNM2	gene	DNM2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482						False	1	0;0;100	1.116	True		ENSG00000079805	ENSG00000079805	HGNC:2974													
DOLK	gene	DOLK	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Im, MIM# 610768;DK1-CDG, MONDO:0012556				30653653;22242004;23890587;17273964;28816422;24144945		False	1	0;0;100	1.116	True		ENSG00000175283	ENSG00000175283	HGNC:23406													
DPM1	gene	DPM1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ie						False	1	0;0;0	1.116	False		ENSG00000000419	ENSG00000000419	HGNC:3005													
DPP6	gene	DPP6	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ventricular fibrillation, paroxysmal familial, 2						False	1	0;0;0	1.116	False		ENSG00000130226	ENSG00000130226	HGNC:3010													
DPYD	gene	DPYD	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Dihydropyrimidine dehydrogenase deficiency						False	1	0;0;0	1.116	False		ENSG00000188641	ENSG00000188641	HGNC:3012													
DTHD1	gene	DTHD1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Leber congenital amaurosis with myopathy						False	1	0;0;0	1.116	False		ENSG00000197057	ENSG00000197057	HGNC:37261													
DTNA	gene	DTNA	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Left ventricular noncompaction 1						False	1	0;0;0	1.116	False		ENSG00000134769	ENSG00000134769	HGNC:3057													
DTNBP1	gene	DTNBP1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 7						False	1	0;0;0	1.116	False		ENSG00000047579	ENSG00000047579	HGNC:17328													
DYSF	gene	DYSF	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Miyoshi muscular dystrophy 1 254130;Muscular dystrophy, limb-girdle, autosomal recessive 2 253601;Myopathy, distal, with anterior tibial onset 606768						False	1	0;0;100	1.116	True		ENSG00000135636	ENSG00000135636	HGNC:3097													
ECE1	gene	ECE1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hirschsprung disease						False	1	0;0;0	1.116	False		ENSG00000117298	ENSG00000117298	HGNC:3146													
EDA	gene	EDA	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100;Tooth agenesis, selective, X-linked 1 MIM#313500						False	1	0;0;100	1.116	True		ENSG00000158813	ENSG00000158813	HGNC:3157													
EDAR	gene	EDAR	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884;autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619						False	1	0;0;100	1.116	True		ENSG00000135960	ENSG00000135960	HGNC:2895													
EDARADD	gene	EDARADD	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884;autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619						False	1	0;0;100	1.116	True		ENSG00000186197	ENSG00000186197	HGNC:14341													
EFEMP2	gene	EFEMP2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IB						False	1	0;0;0	1.116	False		ENSG00000172638	ENSG00000172638	HGNC:3219													
EFHC1	gene	EFHC1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770;{Epilepsy, juvenile absence, susceptibility to, 1}, 607631				33181902;28370826;33969125;29750216;31056551		False	1	0;0;0	1.116	False		ENSG00000096093	ENSG00000096093	HGNC:16406													
EFTUD2	gene	EFTUD2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536						False	1	0;0;100	1.116	True		ENSG00000108883	ENSG00000108883	HGNC:30858													
EGR2	gene	EGR2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 1D 607678;Dejerine-Sottas disease 145900;Hypomyelinating neuropathy, congenital, 1, MIM# 605253						False	1	0;0;100	1.116	True		ENSG00000122877	ENSG00000122877	HGNC:3239													
EIF2B1	gene	EIF2B1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy with vanishing white matter						False	1	0;0;0	1.116	False		ENSG00000111361	ENSG00000111361	HGNC:3257													
ELN	gene	ELN	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	cutis laxa, autosomal dominant 1 MONDO:0007411;supravalvular aortic stenosis MONDO:0008504						False	1	0;0;100	1.116	True		ENSG00000049540	ENSG00000049540	HGNC:3327													
ELP1	gene	ELP1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Dysautonomia, familial MIM#223900;paediatric medulloblastoma						False	1	0;0;100	1.116	True		ENSG00000070061	ENSG00000070061	HGNC:5959													
EMD	gene	EMD	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300						False	1	0;0;100	1.116	True		ENSG00000102119	ENSG00000102119	HGNC:3331													
EPB42	gene	EPB42	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spherocytosis						False	1	0;0;0	1.116	False		ENSG00000166947	ENSG00000166947	HGNC:3381													
EPCAM	gene	EPCAM	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lynch syndrome						False	1	0;0;0	1.116	False		ENSG00000119888	ENSG00000119888	HGNC:11529													
EPHX1	gene	EPHX1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypercholanemia, familial						False	1	0;0;0	1.116	False		ENSG00000143819	ENSG00000143819	HGNC:3401													
EPM2A	gene	EPM2A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Lafora disease MONDO:0009697						False	1	0;0;100	1.116	True		ENSG00000112425	ENSG00000112425	HGNC:3413													
EPS8L2	gene	EPS8L2	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Deafness, MIM#617637						False	1	0;0;100	1.116	True		ENSG00000177106	ENSG00000177106	HGNC:21296													
ERBB3	gene	ERBB3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Lethal congenital contractural syndrome 2						False	1	0;0;0	1.116	False		ENSG00000065361	ENSG00000065361	HGNC:3431													
ERCC1	gene	ERCC1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum						False	1	0;0;0	1.116	False		ENSG00000012061	ENSG00000012061	HGNC:3433													
ERCC2	gene	ERCC2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group D, MIM# 278730						False	1	0;0;100	1.116	True		ENSG00000104884	ENSG00000104884	HGNC:3434													
ERCC3	gene	ERCC3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum						False	1	0;0;0	1.116	False		ENSG00000163161	ENSG00000163161	HGNC:3435													
ERCC5	gene	ERCC5	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696;Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216						False	1	0;0;100	1.116	True		ENSG00000134899	ENSG00000134899	HGNC:3437													
ERCC6	gene	ERCC6	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955;Cockayne syndrome, type B, MIM# 133540 MONDO:0019570;De Sanctis-Cacchione syndrome, MIM# 278800 MONDO:0010217;UV-sensitive syndrome 1, MIM# 600630 MONDO:0010909						False	1	0;0;100	1.116	True		ENSG00000225830	ENSG00000225830	HGNC:3438													
ERCC8	gene	ERCC8	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cockayne syndrome, type A, MIM# 216400;MONDO:0019569						False	1	0;0;100	1.116	True		ENSG00000049167	ENSG00000049167	HGNC:3439													
ESCO2	gene	ESCO2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Juberg-Hayward syndrome, MIM# 216100;Roberts-SC phocomelia syndrome, MIM#268300						False	1	0;0;100	1.116	True		ENSG00000171320	ENSG00000171320	HGNC:27230													
EVC	gene	EVC	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ellis-van Creveld syndrome, MIM# 225500						False	1	0;0;100	1.116	True		ENSG00000072840	ENSG00000072840	HGNC:3497													
EVC2	gene	EVC2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Ellis-van Creveld syndrome, MIM# 225500;Weyers acrofacial dysostosis, MIM# 193530						False	1	0;0;100	1.116	True		ENSG00000173040	ENSG00000173040	HGNC:19747													
EXT1	gene	EXT1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Exostoses, multiple, type 1, MIM# 133700						False	1	0;0;100	1.116	True		ENSG00000182197	ENSG00000182197	HGNC:3512													
EXT2	gene	EXT2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Seizures, scoliosis, and macrocephaly syndrome, MIM#616682						False	1	0;0;100	1.116	True		ENSG00000151348	ENSG00000151348	HGNC:3513													
EYA1	gene	EYA1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Anterior segment anomalies with or without cataract MIM#602588;Branchiootic syndrome 1 MIM#602588;Branchiootorenal syndrome 1, with or without cataracts MIM#113650						False	1	0;0;100	1.116	True		ENSG00000104313	ENSG00000104313	HGNC:3519													
EYA4	gene	EYA4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Deafness, autosomal dominant 10, MIM# 601316						False	1	0;0;100	1.116	True		ENSG00000112319	ENSG00000112319	HGNC:3522													
EZH2	gene	EZH2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Weaver syndrome MIM#277590						False	1	0;0;100	1.116	True		ENSG00000106462	ENSG00000106462	HGNC:3527													
F11	gene	F11	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Factor XI deficiency, autosomal dominant 612416;Factor XI deficiency, autosomal recessive, MIM#612416						False	1	0;0;100	1.116	True		ENSG00000088926	ENSG00000088926	HGNC:3529													
F2	gene	F2	BabySeq Category A gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Dysprothrombinemia MIM#613679;Hypoprothrombinemia MIM#613679;Thrombophilia due to thrombin defect MIM#188050						False	1	0;0;100	1.116	True		ENSG00000180210	ENSG00000180210	HGNC:3535													
F5	gene	F5	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Factor V deficiency, MIM# 227400 MONDO:0009210;Thrombophilia due to activated protein C resistance, MIM# 188055 MONDO:0008560;{Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055						False	1	0;0;100	1.116	True		ENSG00000198734	ENSG00000198734	HGNC:3542													
FAAH2	gene	FAAH2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Autism spectrum disorder						False	1	0;0;0	1.116	False		ENSG00000165591	ENSG00000165591	HGNC:26440													
FAM111B	gene	FAM111B	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis						False	1	0;0;0	1.116	False		ENSG00000189057	ENSG00000189057	HGNC:24200													
FAM126A	gene	FAM126A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypomyelinating leukodystrophy 5 MONDO:0012514						False	1	0;0;100	1.116	True		ENSG00000122591	ENSG00000122591	HGNC:24587													
FAM161A	gene	FAM161A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa 28, 606068						False	1	0;0;100	1.116	True		ENSG00000170264	ENSG00000170264	HGNC:25808													
FAM20C	gene	FAM20C	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Raine syndrome, MIM# 259775						False	1	0;0;100	1.116	True		ENSG00000177706	ENSG00000177706	HGNC:22140													
FAM58A	gene	FAM58A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408						False	1	0;0;100	1.116	True		-	ENSG00000262919	HGNC:28434													
FANCE	gene	FANCE	BabySeq Category C gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Fanconi anaemia;Fanconi anaemia, MIM#600901						False	1	0;0;0	1.116	False		ENSG00000112039	ENSG00000112039	HGNC:3586													
FANCF	gene	FANCF	BabySeq Category C gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Fanconi anaemia, MIM#603467;Fanconi anaemia						False	1	0;0;0	1.116	False		ENSG00000183161	ENSG00000183161	HGNC:3587													
FANCL	gene	FANCL	BabySeq Category C gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Fanconi anaemia;Fanconi anaemia, MIM#614083						False	1	0;0;0	1.116	False		ENSG00000115392	ENSG00000115392	HGNC:20748													
FANCM	gene	FANCM	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Fanconi anaemia						False	1	0;0;0	1.116	False		ENSG00000187790	ENSG00000187790	HGNC:23168													
FAS	gene	FAS	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"Autoimmune lymphoproliferative syndrome, type IA, MIM#	601859"						False	1	0;0;100	1.116	True		ENSG00000026103	ENSG00000026103	HGNC:11920													
FBLN5	gene	FBLN5	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Age-related macular degeneration;Cutis laxa						False	1	0;0;0	1.116	False		ENSG00000140092	ENSG00000140092	HGNC:3602													
FBN2	gene	FBN2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Contractural arachnodactyly, congenital MIM#121050				33571691		False	1	0;0;100	1.116	True		ENSG00000138829	ENSG00000138829	HGNC:3604													
FGD1	gene	FGD1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Aarskog-Scott syndrome, MIM # 305400;Mental retardation, X-linked syndromic 16, MIM# 305400						False	1	0;0;100	1.116	True		ENSG00000102302	ENSG00000102302	HGNC:3663													
FGD4	gene	FGD4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Charcot Marie Tooth disease, type 4H, MIM#609311						False	1	0;0;100	1.116	True		ENSG00000139132	ENSG00000139132	HGNC:19125													
FGFR1	gene	FGFR1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Encephalocraniocutaneous lipomatosis, somatic mosaic 613001;Hartsfield syndrome 615465;Hypogonadotropic hypogonadism 2 with or without anosmia 147950;Jackson-Weiss syndrome 123150;Osteoglophonic dysplasia 166250;Pfeiffer syndrome 101600;Trigonocephaly 1 190440						False	1	0;0;100	1.116	True		ENSG00000077782	ENSG00000077782	HGNC:3688													
FGFR2	gene	FGFR2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410;Apert syndrome, MIM# 101200;Beare-Stevenson cutis gyrata syndrome, MIM# 123790;Bent bone dysplasia syndrome, MIM# 614592;Craniofacial-skeletal-dermatologic dysplasia, MIM# 101600;Crouzon syndrome , MIM#123500;Jackson-Weiss syndrome,MIM# 123150;LADD syndrome, MIM# 149730;Pfeiffer syndrome,MIM# 101600;Saethre-Chotzen syndrome 101400						False	1	0;0;100	1.116	True		ENSG00000066468	ENSG00000066468	HGNC:3689													
FHL1	gene	FHL1	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Myofibrillar myopathy;Emery-Dreifuss muscular dystrophy						False	1	0;0;0	1.116	False		ENSG00000022267	ENSG00000022267	HGNC:3702													
FHL2	gene	FHL2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, hypertrophic						False	1	0;0;0	1.116	False		ENSG00000115641	ENSG00000115641	HGNC:3703													
FKBPL	gene	FKBPL	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Infertility						False	1	0;0;0	1.116	False		ENSG00000204315	ENSG00000204315	HGNC:13949													
FKRP	gene	FKRP	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy MONDO:0018276						False	1	0;0;100	1.116	True		ENSG00000181027	ENSG00000181027	HGNC:17997													
FKTN	gene	FKTN	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy MONDO:0018276						False	1	0;0;100	1.116	True		ENSG00000106692	ENSG00000106692	HGNC:3622													
FLCN	gene	FLCN	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Birt-Hogg-Dube syndrome, MIM# 135150						False	1	0;0;100	1.116	True		ENSG00000154803	ENSG00000154803	HGNC:27310													
FLG	gene	FLG	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ichthyosis vulgaris						False	1	0;0;0	1.116	False		ENSG00000143631	ENSG00000143631	HGNC:3748													
FLNA	gene	FLNA	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	FLNA-related disorders;Frontometaphyseal dysplasia 305620;Otopalatodigital syndrome, type II -304120;Osteodysplasty Melnick Needles 309350;Melnick Needles syndrome 309350;Otopalatodigital syndrome, type II 304120;Frontometaphyseal dysplasia 305620;Terminal osseous dysplasia 300244;Otopalatodigital syndrome, type I -311300						False	1	0;0;100	1.116	True		ENSG00000196924	ENSG00000196924	HGNC:3754													
FLNC	gene	FLNC	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myofibrillar myopathy						False	1	0;0;0	1.116	False		ENSG00000128591	ENSG00000128591	HGNC:3756													
FMO3	gene	FMO3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Trimethylaminuria						False	1	0;0;0	1.116	False		ENSG00000007933	ENSG00000007933	HGNC:3771													
FOXC1	gene	FOXC1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Axenfeld-Rieger syndrome, type 3, MIM# 602482						False	1	0;0;100	1.116	True		ENSG00000054598	ENSG00000054598	HGNC:3800													
FOXC2	gene	FOXC2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lymphoedema-distichiasis syndrome, MIM# 153400						False	1	0;0;100	1.116	True		ENSG00000176692	ENSG00000176692	HGNC:3801													
FOXF1	gene	FOXF1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380						False	1	0;0;100	1.116	True		ENSG00000103241	ENSG00000103241	HGNC:3809													
FOXF2	gene	FOXF2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Disorders of sex development with cleft palate						False	1	0;0;0	1.116	False		ENSG00000137273	ENSG00000137273	HGNC:3810													
FOXH1	gene	FOXH1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart defects						False	1	0;0;0	1.116	False		ENSG00000160973	ENSG00000160973	HGNC:3814													
FOXI1	gene	FOXI1	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	autosomal recessive distal renal tubular acidosis MONDO:0018440						False	1	0;0;100	1.116	True		ENSG00000168269	ENSG00000168269	HGNC:3815													
FRAS1	gene	FRAS1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Fraser syndrome 1, MIM#219000						False	1	0;0;100	1.116	True		ENSG00000138759	ENSG00000138759	HGNC:19185													
FREM1	gene	FREM1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Manitoba oculotrichoanal syndrome						False	1	0;0;0	1.116	False		ENSG00000164946	ENSG00000164946	HGNC:23399													
FREM2	gene	FREM2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Fraser syndrome						False	1	0;0;0	1.116	False		ENSG00000150893	ENSG00000150893	HGNC:25396													
FSCN2	gene	FSCN2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Retinitis pigmentosa						False	1	0;0;0	1.116	False		ENSG00000186765	ENSG00000186765	HGNC:3960													
FTCD	gene	FTCD	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Glutamate formiminotransferase deficiency						False	1	0;0;0	1.116	False		ENSG00000160282	ENSG00000160282	HGNC:3974													
FTL	gene	FTL	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodegeneration with brain iron accumulation 3, MIM# 606159						False	1	0;0;100	1.116	True		ENSG00000087086	ENSG00000087086	HGNC:3999													
FXN	gene	FXN	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Friedreich ataxia MONDO:0100339						False	1	0;0;100	1.116	True		ENSG00000165060	ENSG00000165060	HGNC:3951													
GABRA1	gene	GABRA1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy, idiopathic generalised						False	1	0;0;0	1.116	False		ENSG00000022355	ENSG00000022355	HGNC:4075													
GABRG2	gene	GABRG2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epileptic encephalopathy, early infantile, 74 MIM# 618396;Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681;Febrile seizures, familial, 8 MIM# 607681				27864268		False	1	0;0;100	1.116	True		ENSG00000113327	ENSG00000113327	HGNC:4087													
GAN	gene	GAN	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Giant axonal neuropathy-1, MIM#256850						False	1	50;0;50	1.116	True		ENSG00000261609	ENSG00000261609	HGNC:4137													
GATA1	gene	GATA1	BabySeq Category A gene;BabySeq Category C gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	"Blackfan-Diamond anaemia, ORPHA:124;Congenital erythropoietic porphyria, ORPHA:79277;Porphyria, congenital erythropoietic;Dyserythropoietic anemia with thrombocytopenia;Anaemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#	300835;Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM#	300367"						False	1	0;0;0	1.116	False		ENSG00000102145	ENSG00000102145	HGNC:4170													
GATA5	gene	GATA5	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial atrial fibrillation						False	1	0;0;0	1.116	False		ENSG00000130700	ENSG00000130700	HGNC:15802													
GATA6	gene	GATA6	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atrial fibrillation						False	1	0;0;0	1.116	False		ENSG00000141448	ENSG00000141448	HGNC:4174													
GATAD1	gene	GATAD1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cardiomyopathy, dilated, 2B						False	1	0;0;0	1.116	False		ENSG00000157259	ENSG00000157259	HGNC:29941													
GBE1	gene	GBE1	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Polyglucosan body disease, adult form;Glycogen storage disease IV						False	1	0;0;0	1.116	False		ENSG00000114480	ENSG00000114480	HGNC:4180													
GCLC	gene	GCLC	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency						False	1	0;0;0	1.116	False		ENSG00000001084	ENSG00000001084	HGNC:4311													
GCSH	gene	GCSH	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Glycine encephalopathy						False	1	0;0;0	1.116	False		ENSG00000140905	ENSG00000140905	HGNC:4208													
GDAP1	gene	GDAP1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, axonal, type 2K, MIM#607831;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM#607706;Charcot-Marie-Tooth disease, recessive intermediate, A, MIM#608340;Charcot-Marie-Tooth disease, type 4A, MIM#214400						False	1	0;0;100	1.116	True		ENSG00000104381	ENSG00000104381	HGNC:15968													
GDF1	gene	GDF1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart defects						False	1	0;0;0	1.116	False		ENSG00000130283	ENSG00000130283	HGNC:4214													
GDNF	gene	GDNF	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hirschsprung disease;Central hypoventilation syndrome						False	1	0;0;0	1.116	False		ENSG00000168621	ENSG00000168621	HGNC:4232													
GFER	gene	GFER	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay						False	1	0;0;0	1.116	False		ENSG00000127554	ENSG00000127554	HGNC:4236													
GFM1	gene	GFM1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 1, MIM#609060						False	1	0;50;50	1.116	True		ENSG00000168827	ENSG00000168827	HGNC:13780													
GFPT1	gene	GFPT1	BabySeq Category A gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital myasthenic syndrome, limb-girdle, MIM#610542						False	1	50;0;50	1.116	True		ENSG00000198380	ENSG00000198380	HGNC:4241													
GJA1	gene	GJA1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Oculodentodigital dysplasia, autosomal recessive, MIM# 257850;Oculodentodigital dysplasia, MIM# 164200						False	1	0;0;100	1.116	True		ENSG00000152661	ENSG00000152661	HGNC:4274													
GJB1	gene	GJB1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800						False	1	0;0;100	1.116	True		ENSG00000169562	ENSG00000169562	HGNC:4283													
GJC2	gene	GJC2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spastic paraplegia 44, autosomal recessive MIM#613206;Leukodystrophy, hypomyelinating, 2 MIM#608804;Lymphatic malformation 3 MIM#613480						False	1	0;0;100	1.116	True		ENSG00000198835	ENSG00000198835	HGNC:17494													
GLB1	gene	GLB1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	GM1-gangliosidosis, type I MIM#230500;GM1-gangliosidosis, type II MIM# 230600;GM1-gangliosidosis, type III MIM#230650;Mucopolysaccharidosis type IVB (Morquio) MIM#253010				34539759		False	1	0;0;100	1.116	True		ENSG00000170266	ENSG00000170266	HGNC:4298													
GLE1	gene	GLE1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Lethal arthrogryposis with anterior horn cell disease						False	1	0;0;0	1.116	False		ENSG00000119392	ENSG00000119392	HGNC:4315													
GLI2	gene	GLI2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly-9						False	1	0;0;0	1.116	False		ENSG00000074047	ENSG00000074047	HGNC:4318													
GLI3	gene	GLI3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polydactyly, postaxial, types A1 and B, MIM#174200;Greig cephalopolysyndactyly syndrome MIM#175700;Polydactyly, preaxial, type IV MIM#174700;Pallister-Hall syndrome MIM#146510						False	1	0;0;100	1.116	True		ENSG00000106571	ENSG00000106571	HGNC:4319													
GLRB	gene	GLRB	BabySeq Category C gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Hyperekplexia 2, autosomal recessive;Hyperekplexia 2, MIM#	614619"						False	1	0;0;0	1.116	False		ENSG00000109738	ENSG00000109738	HGNC:4329													
GLUL	gene	GLUL	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital brain dysgenesis due to glutamine synthetase deficiency						False	1	0;0;0	1.116	False		ENSG00000135821	ENSG00000135821	HGNC:4341													
GMPPA	gene	GMPPA	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation						False	1	0;0;0	1.116	False		ENSG00000144591	ENSG00000144591	HGNC:22923													
GNPTAB	gene	GNPTAB	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650;Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931						False	1	0;0;100	1.116	True		ENSG00000111670	ENSG00000111670	HGNC:29670													
GNPTG	gene	GNPTG	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucolipidosis III gamma, MIM# 252605				20301784		False	1	0;0;100	1.116	True		ENSG00000090581	ENSG00000090581	HGNC:23026													
GNS	gene	GNS	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Mucopolysaccharidosis type IIID, MIM#	252940"				31536183		False	1	0;0;100	1.116	True		ENSG00000135677	ENSG00000135677	HGNC:4422													
GPC3	gene	GPC3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870						False	1	0;0;100	1.116	True		ENSG00000147257	ENSG00000147257	HGNC:4451													
GPC4	gene	GPC4	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Simpson-Golabi-Behmel syndrome						False	1	0;0;0	1.116	False		ENSG00000076716	ENSG00000076716	HGNC:4452													
GPC6	gene	GPC6	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Omodysplasia						False	1	0;0;0	1.116	False		ENSG00000183098	ENSG00000183098	HGNC:4454													
GPHN	gene	GPHN	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyperekplexia						False	1	0;0;0	1.116	False		ENSG00000171723	ENSG00000171723	HGNC:15465													
GPR143	gene	GPR143	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Ocular albinism, type I, Nettleship-Falls type, MIM# 300500						False	1	0;0;100	1.116	True		ENSG00000101850	ENSG00000101850	HGNC:20145													
GPR161	gene	GPR161	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Medulloblastoma predisposition syndrome MIM#155255				PMID: 31609649		False	1	0;0;100	1.116	True		ENSG00000143147	ENSG00000143147	HGNC:23694													
GPSM2	gene	GPSM2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Chudley-McCullough syndrome MIM#604213						False	1	0;0;100	1.116	True		ENSG00000121957	ENSG00000121957	HGNC:29501													
GPX1	gene	GPX1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hemolytic anemia due to glutathione peroxidase deficiency						False	1	0;0;0	1.116	False		ENSG00000233276	ENSG00000233276	HGNC:4553													
GRHL2	gene	GRHL2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Ectodermal dysplasia/short stature syndrome MIM#616029;Corneal dystrophy, posterior polymorphous, 4, MIM# 618031;Deafness, autosomal dominant 28, MIM# 608641						False	1	0;0;100	1.116	True		ENSG00000083307	ENSG00000083307	HGNC:2799													
GRIN2A	gene	GRIN2A	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy with neurodevelopmental defects						False	1	0;0;0	1.116	False		ENSG00000183454	ENSG00000183454	HGNC:4585													
GSS	gene	GSS	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Glutathione synthetase deficiency, MIM# 266130;Haemolytic anemia due to glutathione synthetase deficiency 231900						False	1	0;0;100	1.116	True		ENSG00000100983	ENSG00000100983	HGNC:4624													
GTF2H5	gene	GTF2H5	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Trichothiodystrophy						False	1	0;0;0	1.116	False		ENSG00000272047	ENSG00000272047	HGNC:21157													
GUCY2C	gene	GUCY2C	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Meconium ileus						False	1	0;0;0	1.116	False		ENSG00000070019	ENSG00000070019	HGNC:4688													
GYG1	gene	GYG1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Glycogen storage disease XV						False	1	0;0;0	1.116	False		ENSG00000163754	ENSG00000163754	HGNC:4699													
H19	gene	H19	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	Unknown	Beckwith-Wiedemann Syndrome						False	1	0;0;0	1.116	False		ENSG00000130600	ENSG00000130600	HGNC:4713													
HAMP	gene	HAMP	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Haemochromatosis						False	1	0;0;0	1.116	False		ENSG00000105697	ENSG00000105697	HGNC:15598													
HARS	gene	HARS	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome type 3B						False	1	0;0;0	1.116	False		ENSG00000170445	ENSG00000170445	HGNC:4816													
HARS2	gene	HARS2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Perrault syndrome 2, MIM# 614926						False	1	0;0;100	1.116	True		ENSG00000112855	ENSG00000112855	HGNC:4817													
HAS2	gene	HAS2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease						False	1	0;0;0	1.116	False		ENSG00000170961	ENSG00000170961	HGNC:4819													
HCCS	gene	HCCS	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Microphthalmia						False	1	0;0;0	1.116	False		ENSG00000004961	ENSG00000004961	HGNC:4837													
HCFC1	gene	HCFC1	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	"Methylmalonic aciduria and homocysteinemia, cblX type, MIM#	309541"				20301503;26893841;35337626		False	1	0;0;100	1.116	True		ENSG00000172534	ENSG00000172534	HGNC:4839													
HCN4	gene	HCN4	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome						False	1	0;0;0	1.116	False		ENSG00000138622	ENSG00000138622	HGNC:16882													
HDAC8	gene	HDAC8	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Cornelia de Lange syndrome 5, MIM# 300882						False	1	0;0;100	1.116	True		ENSG00000147099	ENSG00000147099	HGNC:13315													
HERC2	gene	HERC2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Autism spectrum disorder						False	1	0;0;0	1.116	False		ENSG00000128731	ENSG00000128731	HGNC:4868													
HEXA	gene	HEXA	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	GM2-gangliosidosis, several forms 272800;Tay-Sachs disease 272800						False	1	0;0;100	1.116	True		ENSG00000213614	ENSG00000213614	HGNC:4878													
HEXB	gene	HEXB	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800						False	1	0;0;100	1.116	True		ENSG00000049860	ENSG00000049860	HGNC:4879													
HFE	gene	HFE	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hemochromatosis						False	1	0;0;0	1.116	False		ENSG00000010704	ENSG00000010704	HGNC:4886													
HFE2	gene	HFE2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Haemochromatosis						False	1	0;0;0	1.116	False		ENSG00000168509	ENSG00000168509	HGNC:4887													
HGSNAT	gene	HGSNAT	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930						False	1	0;0;100	1.116	True		ENSG00000165102	ENSG00000165102	HGNC:26527													
HINT1	gene	HINT1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200;Gamstorp-Wohlfart syndrome, MONDO:0007646						False	1	0;0;100	1.116	True		ENSG00000169567	ENSG00000169567	HGNC:4912													
HMBS	gene	HMBS	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Porphyria, acute intermittent						False	1	0;0;0	1.116	False		ENSG00000256269	ENSG00000256269	HGNC:4982													
HNF1B	gene	HNF1B	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Renal cysts and diabetes syndrome						False	1	0;0;0	1.116	False		ENSG00000108753	ENSG00000275410	HGNC:11630													
HOMER2	gene	HOMER2	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Deafness, autosomal dominant 68, MIM# 616707						False	1	0;0;100	1.116	True		ENSG00000103942	ENSG00000103942	HGNC:17513													
HOMEZ	gene	HOMEZ	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease						False	1	0;0;0	1.116	False		ENSG00000215271	ENSG00000215271	HGNC:20164													
HOXA1	gene	HOXA1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Athabaskan brainstem dysgenesis syndrome						False	1	0;0;0	1.116	False		ENSG00000105991	ENSG00000105991	HGNC:5099													
HPD	gene	HPD	BabySeq Category C gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Tyrosinemia, type III;Hawkinsinuria	, MIM#140350;Tyrosinaemia, type III	276710"				9343288;32520295;11916315		False	1	0;50;50	1.116	True		ENSG00000158104	ENSG00000158104	HGNC:5147													
HPRT1	gene	HPRT1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lesch-Nyhan syndrome, MIM# 300322				18067674		False	1	0;50;50	1.116	True		ENSG00000165704	ENSG00000165704	HGNC:5157													
HPS1	gene	HPS1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 1, MIM# 203300						False	1	0;0;100	1.116	True		ENSG00000107521	ENSG00000107521	HGNC:5163													
HPS3	gene	HPS3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 3, MIM# 614072						False	1	0;0;100	1.116	True		ENSG00000163755	ENSG00000163755	HGNC:15597													
HPS4	gene	HPS4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 4, MIM# 614073						False	1	0;0;100	1.116	True		ENSG00000100099	ENSG00000100099	HGNC:15844													
HPS5	gene	HPS5	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 5 (MIM#614074)						False	1	0;0;100	1.116	True		ENSG00000110756	ENSG00000110756	HGNC:17022													
HPS6	gene	HPS6	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 6						False	1	0;0;0	1.116	False		ENSG00000166189	ENSG00000166189	HGNC:18817													
HRAS	gene	HRAS	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Costello syndrome, MIM# 218040						False	1	0;0;100	1.116	True		ENSG00000174775	ENSG00000174775	HGNC:5173													
HSD17B10	gene	HSD17B10	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	HSD10 mitochondrial disease, MIM# 300438				22127393		False	1	0;0;100	1.116	True		ENSG00000072506	ENSG00000072506	HGNC:4800													
HSD17B3	gene	HSD17B3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Pseudohermaphroditism, male, with gynecomastia MIM#264300						False	1	0;0;100	1.116	True		ENSG00000130948	ENSG00000130948	HGNC:5212													
HSD17B4	gene	HSD17B4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	D-bifunctional protein deficiency, AR (MIM#261515);Perrault syndrome 1, AR (MIM#233400)						False	1	0;0;100	1.116	True		ENSG00000133835	ENSG00000133835	HGNC:5213													
HSPB8	gene	HSPB8	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neuropathy, distal hereditary motor type IIA, 158590;Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673						False	1	0;0;100	1.116	True		ENSG00000152137	ENSG00000152137	HGNC:30171													
HSPG2	gene	HSPG2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Schwartz-Jampel syndrome, type 1, MIM# 255800;MONDO:0009717;Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410;MONDO:0009140						False	1	0;0;100	1.116	True		ENSG00000142798	ENSG00000142798	HGNC:5273													
HTRA1	gene	HTRA1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	CARASIL syndrome, MIM# 600142						False	1	0;0;100	1.116	True		ENSG00000166033	ENSG00000166033	HGNC:9476													
HYDIN	gene	HYDIN	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia						False	1	0;0;0	1.116	False		ENSG00000157423	ENSG00000157423	HGNC:19368													
HYLS1	gene	HYLS1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hydrolethalus syndrome						False	1	0;0;0	1.116	False		ENSG00000198331	ENSG00000198331	HGNC:26558													
IFT122	gene	IFT122	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cranioectodermal dysplasia						False	1	0;0;0	1.116	False		ENSG00000163913	ENSG00000163913	HGNC:13556													
IFT43	gene	IFT43	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cranioectodermal dysplasia						False	1	0;0;0	1.116	False		ENSG00000119650	ENSG00000119650	HGNC:29669													
IFT80	gene	IFT80	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Asphyxiating thoracic dystrophy 2						False	1	0;0;0	1.116	False		ENSG00000068885	ENSG00000068885	HGNC:29262													
IGBP1	gene	IGBP1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia						False	1	0;0;0	1.116	False		ENSG00000089289	ENSG00000089289	HGNC:5461													
IGHMBP2	gene	IGHMBP2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Neuronopathy, distal hereditary motor, type VI, MIM# 604320;Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155						False	1	0;0;100	1.116	True		ENSG00000132740	ENSG00000132740	HGNC:5542													
ILK	gene	ILK	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated						False	1	0;0;0	1.116	False		ENSG00000166333	ENSG00000166333	HGNC:6040													
INSR	gene	INSR	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968;Leprechaunism, MIM# 246200;Rabson-Mendenhall syndrome, MIM# 262190						False	1	0;0;100	1.116	True		ENSG00000171105	ENSG00000171105	HGNC:6091													
INVS	gene	INVS	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 2, infantile, (MIM#602088)						False	1	0;0;100	1.116	True		ENSG00000119509	ENSG00000119509	HGNC:17870													
IQCB1	gene	IQCB1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Senior-Loken syndrome 5, MIM# 609254						False	1	0;0;100	1.116	True		ENSG00000173226	ENSG00000173226	HGNC:28949													
IRF6	gene	IRF6	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Popliteal pterygium syndrome 1MIM#119500;van der Woude syndrome MIM#119300						False	1	0;0;100	1.116	True		ENSG00000117595	ENSG00000117595	HGNC:6121													
IRS1	gene	IRS1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diabetes mellitus, noninsulin dependent						False	1	0;0;0	1.116	False		ENSG00000169047	ENSG00000169047	HGNC:6125													
ISCU	gene	ISCU	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myopathy with defiency of succinate dehydrogenase						False	1	0;0;0	1.116	False		ENSG00000136003	ENSG00000136003	HGNC:29882													
ISL1	gene	ISL1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diabetes, type 2						False	1	0;0;0	1.116	False		ENSG00000016082	ENSG00000016082	HGNC:6132													
ISPD	gene	ISPD	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052						False	1	0;0;100	1.116	True		ENSG00000214960	ENSG00000214960	HGNC:37276													
ITGA3	gene	ITGA3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital						False	1	0;0;100	1.116	True		ENSG00000005884	ENSG00000005884	HGNC:6139													
ITGA6	gene	ITGA6	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Epidermolysis bullosa, junctional, with pyloric stenosis						False	1	0;0;0	1.116	False		ENSG00000091409	ENSG00000091409	HGNC:6142													
ITGA7	gene	ITGA7	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital muscular dystrophy with integrin deficiency						False	1	0;0;0	1.116	False		ENSG00000135424	ENSG00000135424	HGNC:6143													
ITGB4	gene	ITGB4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Epidermolysis bullosa of hands and feet, MIM# 131800;Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650;Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730						False	1	0;0;100	1.116	True		ENSG00000132470	ENSG00000132470	HGNC:6158													
JAG1	gene	JAG1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alagille syndrome, MIM# 1 118450						False	1	0;0;100	1.116	True		ENSG00000101384	ENSG00000101384	HGNC:6188													
JPH2	gene	JPH2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, hypertrophic						False	1	0;0;0	1.116	False		ENSG00000149596	ENSG00000149596	HGNC:14202													
KANSL1	gene	KANSL1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Koolen-De Vries syndrome, MIM# 610443						False	1	0;0;100	1.116	True		ENSG00000120071	ENSG00000120071	HGNC:24565													
KARS	gene	KARS	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy with or without deafness (LEPID), MIM#619147;Deafness, autosomal recessive 89, MIM# 613916;Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196				30737337;30715177;31116475		False	1	0;50;50	1.116	True		ENSG00000065427	ENSG00000065427	HGNC:6215													
KAT6B	gene	KAT6B	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	SBBYSS syndrome MIM #603736;Genitopatellar syndrome MIM #606170						False	1	0;0;100	1.116	True		ENSG00000156650	ENSG00000156650	HGNC:17582													
KBTBD13	gene	KBTBD13	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Nemaline myopathy 6, autosomal dominant, MIM# 609273;Hereditary motor neuropathy late-onset;limb girdle muscular dystrophy						False	1	0;0;100	1.116	True		ENSG00000234438	ENSG00000234438	HGNC:37227													
KCNA1	gene	KCNA1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Episodic ataxia/myokymia syndrome, MIM# 160120						False	1	0;0;100	1.116	True		ENSG00000111262	ENSG00000111262	HGNC:6218													
KCNA5	gene	KCNA5	BabySeq Category B gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atrial fibrillation, familial, 7, MIM# 612240						False	1	0;0;100	1.116	True		ENSG00000130037	ENSG00000130037	HGNC:6224													
KCND3	gene	KCND3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome						False	1	0;0;0	1.116	False		ENSG00000171385	ENSG00000171385	HGNC:6239													
KCNE3	gene	KCNE3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome						False	1	0;0;0	1.116	False		ENSG00000175538	ENSG00000175538	HGNC:6243													
KCNE5	gene	KCNE5	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atrial fibrillation						False	1	0;0;0	1.116	False		ENSG00000176076	ENSG00000176076	HGNC:6241													
KCNJ18	gene	KCNJ18	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypokalaemic periodic paralysis						False	1	0;0;0	1.116	False		-	ENSG00000260458	HGNC:39080													
KCNJ5	gene	KCNJ5	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome						False	1	0;0;0	1.116	False		ENSG00000120457	ENSG00000120457	HGNC:6266													
KCNJ8	gene	KCNJ8	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sudden infant death syndrom						False	1	0;0;0	1.116	False		ENSG00000121361	ENSG00000121361	HGNC:6269													
KCNQ1OT1	gene	KCNQ1OT1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	Unknown	Beckwith-Wiedemann syndrome						False	1	0;0;0	1.116	False		ENSG00000269821	ENSG00000269821	HGNC:6295													
KCNQ2	gene	KCNQ2	BabySeq Category C gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Seizures, benign neonatal, 1, MIM#	121200;Epilepsy, benign neonatal;Developmental and epileptic encephalopathy 7, MIM#	613720"						False	1	0;0;0	1.116	False		ENSG00000075043	ENSG00000075043	HGNC:6296													
KCNQ3	gene	KCNQ3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy, benign neonatal						False	1	0;0;0	1.116	False		ENSG00000184156	ENSG00000184156	HGNC:6297													
KCNQ4	gene	KCNQ4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Deafness, autosomal dominant 2A, MIM# 600101						False	1	0;0;100	1.116	True		ENSG00000117013	ENSG00000117013	HGNC:6298													
KCNT1	gene	KCNT1	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Developmental and epileptic encephalopathy 14, MIM#	614959"						False	1	0;0;100	1.116	True		ENSG00000107147	ENSG00000107147	HGNC:18865													
KCTD7	gene	KCTD7	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)						False	1	0;0;100	1.116	True		ENSG00000243335	ENSG00000243335	HGNC:21957													
KDM5B	gene	KDM5B	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease						False	1	0;0;0	1.116	False		ENSG00000117139	ENSG00000117139	HGNC:18039													
KDM6A	gene	KDM6A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Kabuki syndrome 2, MIM#300867						False	1	0;0;100	1.116	True		ENSG00000147050	ENSG00000147050	HGNC:12637													
KIF1B	gene	KIF1B	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Charcot-Marie-Tooth disease						False	1	0;0;0	1.116	False		ENSG00000054523	ENSG00000054523	HGNC:16636													
KIF1BP	gene	KIF1BP	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Goldberg-Shprintzen megacolon syndrome						False	1	0;0;0	1.116	False		ENSG00000198954	ENSG00000198954	HGNC:23419													
KIF21A	gene	KIF21A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700						False	1	0;0;100	1.116	True		ENSG00000139116	ENSG00000139116	HGNC:19349													
KIF22	gene	KIF22	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spondyloepimetaphyseal dysplasia with joint laxity, type 2						False	1	0;0;0	1.116	False		ENSG00000079616	ENSG00000079616	HGNC:6391													
KIT	gene	KIT	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764						False	1	0;0;100	1.116	True		ENSG00000157404	ENSG00000157404	HGNC:6342													
KLF1	gene	KLF1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dyserythropoietic anaemia, congenital, type IV, MIM# 613673				33339573;32815883;32032242;21055716;32221653;31818881		False	1	0;0;100	1.116	True		ENSG00000105610	ENSG00000105610	HGNC:6345													
KLHL40	gene	KLHL40	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nemaline myopathy 8, autosomal recessive, MIM# 615348						False	1	0;0;100	1.116	True		ENSG00000157119	ENSG00000157119	HGNC:30372													
KLHL41	gene	KLHL41	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nemaline myopathy 9, MIM# 615731						False	1	0;0;100	1.116	True		ENSG00000239474	ENSG00000239474	HGNC:16905													
KMT2D	gene	KMT2D	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Kabuki syndrome 1, MIM# 147920						False	1	0;0;100	1.116	True		ENSG00000167548	ENSG00000167548	HGNC:7133													
KPTN	gene	KPTN	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Macrocephaly, neurodevelopmental delay, and seizures						False	1	0;0;0	1.116	False		ENSG00000118162	ENSG00000118162	HGNC:6404													
KRAS	gene	KRAS	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiofaciocutaneous syndrome 2, MIM# 615278;Noonan syndrome 3, MIM# 609942						False	1	0;0;100	1.116	True		ENSG00000133703	ENSG00000133703	HGNC:6407													
KRT14	gene	KRT14	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Epidermolysis bullosa simplex, recessive 1, 601001;Dermatopathia pigmentosa reticularis, 125595;Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Epidermolysis bullosa simplex, Koebner type, 131900;Epidermolysis bullosa simplex, Weber-Cockayne type, 131800;Naegeli-Franceschetti-Jadassohn syndrome, 161000						False	1	0;0;100	1.116	True		ENSG00000186847	ENSG00000186847	HGNC:6416													
KRT16	gene	KRT16	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000) Pachyonychia congenita 1 (MIM#167200)						False	1	0;0;100	1.116	True		ENSG00000186832	ENSG00000186832	HGNC:6423													
KRT17	gene	KRT17	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500						False	1	0;0;100	1.116	True		ENSG00000128422	ENSG00000128422	HGNC:6427													
KRT18	gene	KRT18	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cirrhosis, cryptogenic						False	1	0;0;0	1.116	False		ENSG00000111057	ENSG00000111057	HGNC:6430													
KRT5	gene	KRT5	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Dowling-Degos disease 1, MIM# 179850;Epidermolysis bullosa simplex-MCR, MIM# 609352;Epidermolysis bullosa simplex-MP 131960;Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760;Epidermolysis bullosa simplex, Koebner type, MIM# 131900;Epidermolysis bullosa simplex, recessive 1, MIM# 601001;Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800						False	1	0;0;100	1.116	True		ENSG00000186081	ENSG00000186081	HGNC:6442													
KRT6A	gene	KRT6A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pachyonychia congenita 3 (MIM#615726)						False	1	0;0;100	1.116	True		ENSG00000205420	ENSG00000205420	HGNC:6443													
KRT6B	gene	KRT6B	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pachyonychia congenita						False	1	0;0;0	1.116	False		ENSG00000185479	ENSG00000185479	HGNC:6444													
KRT8	gene	KRT8	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cirrhosis, cryptogenic						False	1	0;0;0	1.116	False		ENSG00000170421	ENSG00000170421	HGNC:6446													
L1CAM	gene	L1CAM	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Hydrocephalus due to aqueductal stenosis, MIM# 307000						False	1	50;0;50	1.116	True		ENSG00000198910	ENSG00000198910	HGNC:6470													
LAMA3	gene	LAMA3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Epidermolysis bullosa, junctional 2B, severe, MIM# 619784						False	1	50;0;50	1.116	True		ENSG00000053747	ENSG00000053747	HGNC:6483													
LAMA4	gene	LAMA4	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated						False	1	0;0;0	1.116	False		ENSG00000112769	ENSG00000112769	HGNC:6484													
LAMB2	gene	LAMB2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199;Pierson syndrome, MIM# 609049						False	1	50;0;50	1.116	True		ENSG00000172037	ENSG00000172037	HGNC:6487													
LAMB3	gene	LAMB3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Amelogenesis imperfecta, type IA, MIM# 104530;Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700;Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650						False	1	0;0;100	1.116	True		ENSG00000196878	ENSG00000196878	HGNC:6490													
LAMC2	gene	LAMC2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Epidermolysis bullosa, junctional 3B, severe, MIM# 619786						False	1	50;0;50	1.116	True		ENSG00000058085	ENSG00000058085	HGNC:6493													
LAMTOR2	gene	LAMTOR2	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Immunodeficiency due to defect in MAPBP-interacting protein, MIM#	610798"				17195838		False	1	0;0;100	1.116	True		ENSG00000116586	ENSG00000116586	HGNC:29796													
LARGE1	gene	LARGE1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840						False	1	50;0;50	1.116	True		ENSG00000133424	ENSG00000133424	HGNC:6511													
LARS	gene	LARS	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Infantile liver failure syndrome						False	1	0;0;0	1.116	False		ENSG00000133706	ENSG00000133706	HGNC:6512													
LARS2	gene	LARS2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021;Perrault syndrome 4, MIM#	615300"						False	1	50;0;50	1.116	True		ENSG00000011376	ENSG00000011376	HGNC:17095													
LBR	gene	LBR	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pelger-Huet anomaly;Reynolds syndrome						False	1	0;0;0	1.116	False		ENSG00000143815	ENSG00000143815	HGNC:6518													
LDB3	gene	LDB3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myofibrillar myopathy						False	1	0;0;0	1.116	False		ENSG00000122367	ENSG00000122367	HGNC:15710													
LGI1	gene	LGI1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy, familial temporal lobe, 1						False	1	0;0;0	1.116	False		ENSG00000108231	ENSG00000108231	HGNC:6572													
LHB	gene	LHB	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypogonadism						False	1	0;0;0	1.116	False		ENSG00000104826	ENSG00000104826	HGNC:6584													
LIAS	gene	LIAS	Expert Review;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyperglycinemia, lactic acidosis, and seizures MIM#614462				24334290;24777537		False	1	0;0;100	1.116	True		ENSG00000121897	ENSG00000121897	HGNC:16429													
LIFR	gene	LIFR	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559						False	1	50;0;50	1.116	True		ENSG00000113594	ENSG00000113594	HGNC:6597													
LITAF	gene	LITAF	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Charcot-Marie-Tooth disease, type 1C, MIM# 601098						False	1	0;0;100	1.116	True		ENSG00000189067	ENSG00000189067	HGNC:16841													
LMNB2	gene	LMNB2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lipodystrophy, partial						False	1	0;0;0	1.116	False		ENSG00000176619	ENSG00000176619	HGNC:6638													
LMOD3	gene	LMOD3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nemaline myopathy 10, MIM# 616165						False	1	50;0;50	1.116	True		ENSG00000163380	ENSG00000163380	HGNC:6649													
LMX1A	gene	LMX1A	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Deafness, autosomal dominant 7 MIM#601412				PMID: 29754270		False	1	0;0;100	1.116	True		ENSG00000162761	ENSG00000162761	HGNC:6653													
LMX1B	gene	LMX1B	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Nail-patella syndrome, MIM# 161200, MONDO:0008061						False	1	50;0;50	1.116	True		ENSG00000136944	ENSG00000136944	HGNC:6654													
LPIN2	gene	LPIN2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Majeed syndrome						False	1	0;0;0	1.116	False		ENSG00000101577	ENSG00000101577	HGNC:14450													
LPP	gene	LPP	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tetralogy of Fallot						False	1	0;0;0	1.116	False		ENSG00000145012	ENSG00000145012	HGNC:6679													
LRP2	gene	LRP2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Donnai-Barrow syndrome, MIM#222448						False	1	50;0;50	1.116	True		ENSG00000081479	ENSG00000081479	HGNC:6694													
LRP4	gene	LRP4	BabySeq Category A gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Myasthenic syndrome, congenital, 17 , MIM#616304						False	1	50;0;50	1.116	True		ENSG00000134569	ENSG00000134569	HGNC:6696													
LRPPRC	gene	LRPPRC	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111						False	1	50;0;50	1.116	True		ENSG00000138095	ENSG00000138095	HGNC:15714													
LRRC6	gene	LRRC6	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 19, MIM# 614935						False	1	50;0;50	1.116	True		ENSG00000129295	ENSG00000129295	HGNC:16725													
LRRK2	gene	LRRK2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Parkinson disease						False	1	0;0;0	1.116	False		ENSG00000188906	ENSG00000188906	HGNC:18618													
LRSAM1	gene	LRSAM1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436						False	1	0;0;100	1.116	True		ENSG00000148356	ENSG00000148356	HGNC:25135													
LTBP4	gene	LTBP4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IC (MIM# 613177)						False	1	50;0;50	1.116	True		ENSG00000090006	ENSG00000090006	HGNC:6717													
LUM	gene	LUM	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyotrophic lateral sclerosis						False	1	0;0;0	1.116	False		ENSG00000139329	ENSG00000139329	HGNC:6724													
LYZ	gene	LYZ	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyloidosis, systemic						False	1	0;0;0	1.116	False		ENSG00000090382	ENSG00000090382	HGNC:6740													
MAD2L2	gene	MAD2L2	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Fanconi anemia, complementation group V, MIM# 	617243"				27500492		False	1	0;0;100	1.116	True		ENSG00000116670	ENSG00000116670	HGNC:6764													
MAGI2	gene	MAGI2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 15, MIM# 617609						False	1	0;50;50	1.116	True		ENSG00000187391	ENSG00000187391	HGNC:18957													
MAP2K1	gene	MAP2K1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiofaciocutaneous syndrome 3, MIM# 615279						False	1	0;0;100	1.116	True		ENSG00000169032	ENSG00000169032	HGNC:6840													
MAP2K2	gene	MAP2K2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiofaciocutaneous syndrome 4, MIM# 615280						False	1	0;0;100	1.116	True		ENSG00000126934	ENSG00000126934	HGNC:6842													
MAPK10	gene	MAPK10	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epileptic encephalopathy						False	1	0;0;0	1.116	False		ENSG00000109339	ENSG00000109339	HGNC:6872													
MAPT	gene	MAPT	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dementia, frontotemporal, with or without parkinsonism						False	1	0;0;0	1.116	False		ENSG00000186868	ENSG00000186868	HGNC:6893													
MAT1A	gene	MAT1A	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Methionine adenosyltransferase deficiency MIM#250850						False	1	0;0;100	1.116	True		ENSG00000151224	ENSG00000151224	HGNC:6903													
MATN4	gene	MATN4	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Multiple anomalies						False	1	0;0;0	1.116	False		ENSG00000124159	ENSG00000124159	HGNC:6910													
MBTPS2	gene	MBTPS2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	IFAP syndrome with or without BRESHECK syndrome MIM#308205						False	1	0;0;100	1.116	True		ENSG00000012174	ENSG00000012174	HGNC:15455													
MCCC1	gene	MCCC1	BabySeq Category B gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200				22642865;31730530		False	1	0;50;50	1.116	True		ENSG00000078070	ENSG00000078070	HGNC:6936													
MCCC2	gene	MCCC2	BabySeq Category B gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210				22642865		False	1	0;0;100	1.116	True		ENSG00000131844	ENSG00000131844	HGNC:6937													
MCOLN1	gene	MCOLN1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucolipidosis IV, MIM# 252650						False	1	0;0;100	1.116	True		ENSG00000090674	ENSG00000090674	HGNC:13356													
MCPH1	gene	MCPH1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 1, primary, autosomal recessive, MIM# 251200						False	1	0;0;100	1.116	True		ENSG00000147316	ENSG00000147316	HGNC:6954													
MECP2	gene	MECP2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055						False	1	0;0;100	1.116	True		ENSG00000169057	ENSG00000169057	HGNC:6990													
MED12	gene	MED12	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Ohdo syndrome, X-linked MIM#300895;Lujan-Fryns syndrome MIM#309520;Opitz-Kaveggia syndrome MIM#305450;Hardikar syndrome, MIM# 301068						False	1	0;0;100	1.116	True		ENSG00000184634	ENSG00000184634	HGNC:11957													
MED13L	gene	MED13L	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Transposition of great arteries						False	1	0;0;0	1.116	False		ENSG00000123066	ENSG00000123066	HGNC:22962													
MED20	gene	MED20	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease						False	1	0;0;0	1.116	False		ENSG00000124641	ENSG00000124641	HGNC:16840													
MED25	gene	MED25	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643;Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449				25792360;32816121		False	1	0;0;100	1.116	True		ENSG00000104973	ENSG00000104973	HGNC:28845													
MEGF10	gene	MEGF10	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399						False	1	0;0;100	1.116	True		ENSG00000145794	ENSG00000145794	HGNC:29634													
MESP2	gene	MESP2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Spondylocostal dysostosis, autosomal recessive 2						False	1	0;0;0	1.116	False		ENSG00000188095	ENSG00000188095	HGNC:29659													
MFN2	gene	MFN2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087;Hereditary motor and sensory neuropathy VIA, OMIM #601152						False	1	0;0;100	1.116	True		ENSG00000116688	ENSG00000116688	HGNC:16877													
MFSD8	gene	MFSD8	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 7, MIM# 610951				31597037		False	1	0;0;100	1.116	True		ENSG00000164073	ENSG00000164073	HGNC:28486													
MGAT2	gene	MGAT2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIa, MIM# 212066;MGAT2-CDG, MONDO:0008908				22105986;31420886;11228641;33044030;8808595		False	1	0;0;100	1.116	True		ENSG00000168282	ENSG00000168282	HGNC:7045													
MGP	gene	MGP	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Keutel syndrome, MIM #245150						False	1	0;0;100	1.116	True		ENSG00000111341	ENSG00000111341	HGNC:7060													
MIB1	gene	MIB1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Left ventricular noncompaction						False	1	0;0;0	1.116	False		ENSG00000101752	ENSG00000101752	HGNC:21086													
MIR96	gene	MIR96	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hearing loss						False	1	0;0;0	1.116	False		ENSG00000199158	ENSG00000199158	HGNC:31648													
MKKS	gene	MKKS	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 6 (MIM#605231);McKusick-Kaufman syndrome, MIM# 236700						False	1	0;0;100	1.116	True		ENSG00000125863	ENSG00000125863	HGNC:7108													
MKS1	gene	MKS1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 28, MIM# 617121 MONDO:0014928;Meckel syndrome 1, MIM# 249000 MONDO:0009571;Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441						False	1	0;0;100	1.116	True		ENSG00000011143	ENSG00000011143	HGNC:7121													
MLC1	gene	MLC1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004						False	1	0;0;100	1.116	True		ENSG00000100427	ENSG00000100427	HGNC:17082													
MLPH	gene	MLPH	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Griscelli syndrome type 3						False	1	0;0;0	1.116	False		ENSG00000115648	ENSG00000115648	HGNC:29643													
MOCS2	gene	MOCS2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Molybdenum cofactor deficiency B, MIM#252160						False	1	0;0;100	1.116	True		ENSG00000164172	ENSG00000164172	HGNC:7193													
MOGS	gene	MOGS	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Glucosidase 1 deficiency						False	1	0;0;0	1.116	False		ENSG00000115275	ENSG00000115275	HGNC:24862													
MPDU1	gene	MPDU1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type If, MIM# 609180;MPDU1-CDG, MONDO:0012211				11733564;11733556;31741824;29721919		False	1	0;0;100	1.116	True		ENSG00000129255	ENSG00000129255	HGNC:7207													
MPV17	gene	MPV17	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810						False	1	0;0;100	1.116	True		ENSG00000115204	ENSG00000115204	HGNC:7224													
MPZ	gene	MPZ	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Charcot Marie Tooth disease, dominant intermediate D, 60779;Neuropathy, congenital hypomyelinating, 605253;Charcot Marie Tooth disease, type 2J, 607736;Dejerine Sottas disease, 145900;Charcot Marie Tooth disease, type 1B, 118200;Charcot Marie Tooth disease, type 2I, 607677						False	1	0;0;100	1.116	True		ENSG00000158887	ENSG00000158887	HGNC:7225													
MPZL2	gene	MPZL2	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Deafness, autosomal recessive 111 MIM#618145				PMID: 29982980, 29961571, 35734045,33234333		False	1	0;0;100	1.116	True		ENSG00000149573	ENSG00000149573	HGNC:3496													
MRPS16	gene	MRPS16	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial respiratory chain disorder						False	1	0;0;0	1.116	False		ENSG00000182180	ENSG00000182180	HGNC:14048													
MRPS22	gene	MRPS22	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial respiratory chain disorder						False	1	0;0;0	1.116	False		ENSG00000175110	ENSG00000175110	HGNC:14508													
MSRB3	gene	MSRB3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Deafness, autosomal recessive						False	1	0;0;0	1.116	False		ENSG00000174099	ENSG00000174099	HGNC:27375													
MSX2	gene	MSX2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Craniosynostosis 2 (MIM#604757);Parietal foramina 1 (MIM#168500);Parietal foramina with cleidocranial dysplasia (MIM#168550)						False	1	0;0;100	1.116	True		ENSG00000120149	ENSG00000120149	HGNC:7392													
MTHFR	gene	MTHFR	BabySeq Category B gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Homocystinuria due to MTHFR deficiency MIM#236250				34214447		False	1	0;0;100	1.116	True		ENSG00000177000	ENSG00000177000	HGNC:7436													
MTHFS	gene	MTHFS	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367				30031689;31844630;22303332		False	1	0;0;100	1.116	True		ENSG00000136371	ENSG00000136371	HGNC:7437													
MTM1	gene	MTM1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Myopathy, centronuclear, X-linked, MIM# 310400						False	1	0;0;100	1.116	True		ENSG00000171100	ENSG00000171100	HGNC:7448													
MT-ND1	gene	MT-ND1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MITOCHONDRIAL	Leber hereditary optic neuropathy						False	1	0;0;0	1.116	False		ENSG00000198888	ENSG00000198888	HGNC:7455													
MT-ND4	gene	MT-ND4	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MITOCHONDRIAL	Leber hereditary optic neuropathy						False	1	0;0;0	1.116	False		ENSG00000198886	ENSG00000198886	HGNC:7459													
MT-ND6	gene	MT-ND6	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MITOCHONDRIAL	Leber hereditary optic neuropathy						False	1	0;0;0	1.116	False		ENSG00000198695	ENSG00000198695	HGNC:7462													
MTO1	gene	MTO1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypertrophic cardiomyopathy & lactic acidosis						False	1	0;0;0	1.116	False		ENSG00000135297	ENSG00000135297	HGNC:19261													
MUC5B	gene	MUC5B	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pulmonary fibrosis, idiopathic						False	1	0;0;0	1.116	False		ENSG00000117983	ENSG00000117983	HGNC:7516													
MUTYH	gene	MUTYH	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Adenomas, multiple colorectal, MIM# 608456						False	1	0;0;100	1.116	True		ENSG00000132781	ENSG00000132781	HGNC:7527													
MYBPC1	gene	MYBPC1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Myopathy, congenital, with tremor MIM#618524;Lethal congenital contracture syndrome 4, MIM# 614915;Arthrogryposis, distal, type 1B 614335				23873045;20045868;22610851;26661508;31025394;31264822		False	1	0;0;100	1.116	True		ENSG00000196091	ENSG00000196091	HGNC:7549													
MYBPC3	gene	MYBPC3	BabySeq Category B gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, dilated						False	1	0;0;0	1.116	False		ENSG00000134571	ENSG00000134571	HGNC:7551													
MYCN	gene	MYCN	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Feingold syndrome 1, MIM# 164280						False	1	0;0;100	1.116	True		ENSG00000134323	ENSG00000134323	HGNC:7559													
MYH14	gene	MYH14	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Deafness, autosomal dominant 4A, MIM# 600652;Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369				34681017		False	1	0;0;100	1.116	True		ENSG00000105357	ENSG00000105357	HGNC:23212													
MYH2	gene	MYH2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Proximal myopathy and ophthalmoplegia, MIM# 605637						False	1	0;0;100	1.116	True		ENSG00000125414	ENSG00000125414	HGNC:7572													
MYH3	gene	MYH3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700;Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436;Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469						False	1	0;0;100	1.116	True		ENSG00000109063	ENSG00000109063	HGNC:7573													
MYH6	gene	MYH6	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated;Cardiomyopathy, familial hypertrophic;Atrial septal defect						False	1	0;0;0	1.116	False		ENSG00000197616	ENSG00000197616	HGNC:7576													
MYH9	gene	MYH9	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Deafness, autosomal dominant 17, MIM# 603622;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100						False	1	0;0;100	1.116	True		ENSG00000100345	ENSG00000100345	HGNC:7579													
MYLK2	gene	MYLK2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	Unknown	Cardiomyopathy, hypertrophic						False	1	0;0;0	1.116	False		ENSG00000101306	ENSG00000101306	HGNC:16243													
MYO1C	gene	MYO1C	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Sensorineural hearing loss						False	1	0;0;0	1.116	False		ENSG00000197879	ENSG00000197879	HGNC:7597													
MYO1E	gene	MYO1E	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Focal segmental glomerulosclerosis						False	1	0;0;0	1.116	False		ENSG00000157483	ENSG00000157483	HGNC:7599													
MYO1F	gene	MYO1F	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Sensorineural hearing loss						False	1	0;0;0	1.116	False		ENSG00000142347	ENSG00000142347	HGNC:7600													
MYO5A	gene	MYO5A	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Griscelli syndrome						False	1	0;0;0	1.116	False		ENSG00000197535	ENSG00000197535	HGNC:7602													
MYO9A	gene	MYO9A	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Myasthenic syndrome, congenital, 24, presynaptic, MIM#	618198"						False	1	50;0;50	1.116	True		ENSG00000066933	ENSG00000066933	HGNC:7608													
MYOM1	gene	MYOM1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, hypertrophic						False	1	0;0;0	1.116	False		ENSG00000101605	ENSG00000101605	HGNC:7613													
MYOT	gene	MYOT	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myofibrillar myopathy						False	1	0;0;0	1.116	False		ENSG00000120729	ENSG00000120729	HGNC:12399													
MYOZ2	gene	MYOZ2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, hypertrophic						False	1	0;0;0	1.116	False		ENSG00000172399	ENSG00000172399	HGNC:1330													
MYPN	gene	MYPN	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, hypertrophic;Cardiomyopathy, dilated						False	1	0;0;0	1.116	False		ENSG00000138347	ENSG00000138347	HGNC:23246													
NAA10	gene	NAA10	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N-terminal acetyltransferase deficiency						False	1	0;0;0	1.116	False		ENSG00000102030	ENSG00000102030	HGNC:18704													
NAA15	gene	NAA15	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease						False	1	0;0;0	1.116	False		ENSG00000164134	ENSG00000164134	HGNC:30782													
NAGA	gene	NAGA	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Kanzaki disease, MIM# 609242						False	1	0;0;100	1.116	True		ENSG00000198951	ENSG00000198951	HGNC:7631													
NAXE	gene	NAXE	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186				27122014;27616477;31758406		False	1	0;0;100	1.116	True		ENSG00000163382	ENSG00000163382	HGNC:18453													
NBN	gene	NBN	BabySeq Category A gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nijmegen breakage syndrome, MIM#251260						False	1	0;0;100	1.116	True		ENSG00000104320	ENSG00000104320	HGNC:7652													
NDP	gene	NDP	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Norrie disease, MIM# 310600						False	1	50;0;50	1.116	True		ENSG00000124479	ENSG00000124479	HGNC:7678													
NEB	gene	NEB	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nemaline myopathy 2, autosomal recessive 256030;Arthrogryposis multiplex congenita 6, MIM# 619334						False	1	0;0;100	1.116	True		ENSG00000183091	ENSG00000183091	HGNC:7720													
NEBL	gene	NEBL	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated						False	1	0;0;0	1.116	False		ENSG00000078114	ENSG00000078114	HGNC:16932													
NECTIN1	gene	NECTIN1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cleft lip / palate						False	1	0;0;0	1.116	False		ENSG00000110400	ENSG00000110400	HGNC:9706													
NEDD4L	gene	NEDD4L	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy, photosensitive generalised						False	1	0;0;0	1.116	False		ENSG00000049759	ENSG00000049759	HGNC:7728													
NEFL	gene	NEFL	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882;Charcot-Marie-Tooth disease, type 1F, MIM# 607734;Charcot-Marie-Tooth disease, type 2E 607684						False	1	0;0;100	1.116	True		ENSG00000104725	ENSG00000277586	HGNC:7739													
NEK1	gene	NEK1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520				22499340;21211617;28123176;25492405		False	1	0;0;100	1.116	True		ENSG00000137601	ENSG00000137601	HGNC:7744													
NEK8	gene	NEK8	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	MONDO:0014174;Renal-hepatic-pancreatic dysplasia 2, MIM# 615415				26967905;33131162;26697755;23274954;26862157;31633649;23418306		False	1	0;0;100	1.116	True		ENSG00000160602	ENSG00000160602	HGNC:13387													
NEU1	gene	NEU1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Sialidosis, type I and type II, MIM# 256550						False	1	0;0;100	1.116	True		ENSG00000204386	ENSG00000204386	HGNC:7758													
NEXN	gene	NEXN	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, dilated						False	1	0;0;0	1.116	False		ENSG00000162614	ENSG00000162614	HGNC:29557													
NF1	gene	NF1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurofibromatosis, type 1, MIM# 162200				31010905		False	1	50;0;50	1.116	True		ENSG00000196712	ENSG00000196712	HGNC:7765													
NF2	gene	NF2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurofibromatosis, type 2 (MIM# 101000)						False	1	0;0;100	1.116	True		ENSG00000186575	ENSG00000186575	HGNC:7773													
NFATC1	gene	NFATC1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital heart disease						False	1	0;0;0	1.116	False		ENSG00000131196	ENSG00000131196	HGNC:7775													
NGLY1	gene	NGLY1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of deglycosylation, MIM# 615273						False	1	0;0;100	1.116	True		ENSG00000151092	ENSG00000151092	HGNC:17646													
NHLRC1	gene	NHLRC1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780						False	1	0;0;100	1.116	True		ENSG00000187566	ENSG00000187566	HGNC:21576													
NHP2	gene	NHP2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita						False	1	0;0;0	1.116	False		ENSG00000145912	ENSG00000145912	HGNC:14377													
NIN	gene	NIN	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome						False	1	0;0;0	1.116	False		ENSG00000100503	ENSG00000100503	HGNC:14906													
NIPBL	gene	NIPBL	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cornelia de Lange syndrome 1, MIM# 122470						False	1	0;0;100	1.116	True		ENSG00000164190	ENSG00000164190	HGNC:28862													
NKX3-2	gene	NKX3-2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Spondylo-megaepiphyseal-metaphyseal dysplasia						False	1	0;0;0	1.116	False		ENSG00000109705	ENSG00000109705	HGNC:951													
NLGN3	gene	NLGN3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	Unknown	Autism						False	1	0;0;0	1.116	False		ENSG00000196338	ENSG00000196338	HGNC:14289													
NLGN4X	gene	NLGN4X	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Intellectual developmental disorder, X-linked MIM#300495						False	1	0;0;100	1.116	True		ENSG00000146938	ENSG00000146938	HGNC:14287													
NLRP7	gene	NLRP7	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hydatidiform mole						False	1	0;0;0	1.116	False		ENSG00000167634	ENSG00000167634	HGNC:22947													
NME8	gene	NME8	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary						False	1	0;0;0	1.116	False		ENSG00000086288	ENSG00000086288	HGNC:16473													
NOG	gene	NOG	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brachydactyly, type B2 - MIM#611377;Multiple synostoses syndrome 1 (MIM#186500);Stapes ankylosis with broad thumbs and toes (MIM#184460);Symphalangism, proximal, 1A (MIM#185800);Tarsal-carpal coalition syndrome (MIM#186570)						False	1	0;0;100	1.116	True		ENSG00000183691	ENSG00000183691	HGNC:7866													
NOP10	gene	NOP10	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita						False	1	0;0;0	1.116	False		ENSG00000182117	ENSG00000182117	HGNC:14378													
NOTCH1	gene	NOTCH1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aortic valve disease						False	1	0;0;0	1.116	False		ENSG00000148400	ENSG00000148400	HGNC:7881													
NOTCH2	gene	NOTCH2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alagille syndrome 2 (MIM#610205);Hajdu-Cheney syndrome (MIM#102500)						False	1	0;0;100	1.116	True		ENSG00000134250	ENSG00000134250	HGNC:7882													
NOTCH3	gene	NOTCH3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310						False	1	0;0;100	1.116	True		ENSG00000074181	ENSG00000074181	HGNC:7883													
NPHP1	gene	NPHP1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 4, MIM# 609583;Nephronophthisis 1, juvenile, MIM# 256100;Senior-Loken syndrome-1, MIM# 266900						False	1	0;0;100	1.116	True		ENSG00000144061	ENSG00000144061	HGNC:7905													
NPHP3	gene	NPHP3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Renal-hepatic-pancreatic dysplasia 1, MIM# 208540						False	1	0;0;100	1.116	True		ENSG00000113971	ENSG00000113971	HGNC:7907													
NPHP4	gene	NPHP4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996						False	1	0;0;100	1.116	True		ENSG00000131697	ENSG00000131697	HGNC:19104													
NPHS1	gene	NPHS1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 1, MIM# 256300						False	1	0;0;100	1.116	True		ENSG00000161270	ENSG00000161270	HGNC:7908													
NPPA	gene	NPPA	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atrial fibrillation						False	1	0;0;0	1.116	False		ENSG00000175206	ENSG00000175206	HGNC:7939													
NR1H4	gene	NR1H4	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cholestasis, infantile						False	1	0;0;0	1.116	False		ENSG00000012504	ENSG00000012504	HGNC:7967													
NRG1	gene	NRG1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hirschsprung disease						False	1	0;0;0	1.116	False		ENSG00000157168	ENSG00000157168	HGNC:7997													
NRXN1	gene	NRXN1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	Unknown	Autism						False	1	0;0;0	1.116	False		ENSG00000179915	ENSG00000179915	HGNC:8008													
NSD1	gene	NSD1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sotos syndrome 1, MIM# 117550						False	1	0;0;100	1.116	True		ENSG00000165671	ENSG00000165671	HGNC:14234													
NSDHL	gene	NSDHL	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	CK syndrome;CHILD syndrome						False	1	0;0;0	1.116	False		ENSG00000147383	ENSG00000147383	HGNC:13398													
NTRK1	gene	NTRK1	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital insensitivity to pain with anhidrosis MIM#256800						False	1	0;0;100	1.116	True		ENSG00000198400	ENSG00000198400	HGNC:8031													
NUB1	gene	NUB1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease						False	1	0;0;0	1.116	False		ENSG00000013374	ENSG00000013374	HGNC:17623													
NUP155	gene	NUP155	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Atrial fibrillation						False	1	0;0;0	1.116	False		ENSG00000113569	ENSG00000113569	HGNC:8063													
NUP62	gene	NUP62	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Striatonigral degeneration, infantile						False	1	0;0;0	1.116	False		ENSG00000213024	ENSG00000213024	HGNC:8066													
OBSL1	gene	OBSL1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	3-M syndrome 2, MIM #612921						False	1	0;0;100	1.116	True		ENSG00000124006	ENSG00000124006	HGNC:29092													
OCA2	gene	OCA2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Albinism, brown oculocutaneous, MIM# 203200;Albinism, oculocutaneous, type II, MIM# 203200						False	1	0;0;100	1.116	True		ENSG00000104044	ENSG00000104044	HGNC:8101													
OCRL	gene	OCRL	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Dent disease 2, MIM# 300555;Lowe syndrome , MIM#309000						False	1	0;0;100	1.116	True		ENSG00000122126	ENSG00000122126	HGNC:8108													
OFD1	gene	OFD1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Retinitis pigmentosa 23, MIM# 300424;Joubert syndrome 10, MIM# 300804;Orofaciodigital syndrome I, MIM# 311200						False	1	0;0;100	1.116	True		ENSG00000046651	ENSG00000046651	HGNC:2567													
OPA1	gene	OPA1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896;Behr syndrome MIM#210000, AR;Optic atrophy 1, MIM#165500;Optic atrophy plus syndrome, MIM# 125250						False	1	0;0;100	1.116	True		ENSG00000198836	ENSG00000198836	HGNC:8140													
OPA3	gene	OPA3	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Optic atrophy 3 with cataract;3-methylglutaconic aciduria, type III						False	1	0;0;0	1.116	False		ENSG00000125741	ENSG00000125741	HGNC:8142													
ORC1	gene	ORC1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 1, MIM# 224690						False	1	0;0;100	1.116	True		ENSG00000085840	ENSG00000085840	HGNC:8487													
ORC4	gene	ORC4	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome						False	1	0;0;0	1.116	False		ENSG00000115947	ENSG00000115947	HGNC:8490													
ORC6	gene	ORC6	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome						False	1	0;0;0	1.116	False		ENSG00000091651	ENSG00000091651	HGNC:17151													
OSMR	gene	OSMR	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyloidosis, primary localized cutaneous, 1 - MIM#105250						False	1	0;0;100	1.116	True		ENSG00000145623	ENSG00000145623	HGNC:8507													
OSTM1	gene	OSTM1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteopetrosis, autosomal recessive 5, MIM#259720				34011644		False	1	0;0;100	1.116	True		ENSG00000081087	ENSG00000081087	HGNC:21652													
OTUD4	gene	OTUD4	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypogonadotropic hypogonadism, ataxia & dementia						False	1	0;0;0	1.116	False		ENSG00000164164	ENSG00000164164	HGNC:24949													
P2RX2	gene	P2RX2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hearing loss						False	1	0;0;0	1.116	False		ENSG00000187848	ENSG00000187848	HGNC:15459													
P2RY12	gene	P2RY12	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Bleeding disorder, platelet-type, 8, MIM# 609821;MONDO:0012354				29117459;11196645;19237732;12578987		False	1	0;0;100	1.116	True		ENSG00000169313	ENSG00000169313	HGNC:18124													
PABPN1	gene	PABPN1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Oculopharyngeal muscular dystrophy						False	1	0;0;0	1.116	False		ENSG00000100836	ENSG00000100836	HGNC:8565													
PAK3	gene	PAK3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation syndrome, X-linked 30, MIM#300558						False	1	0;0;100	1.116	True		ENSG00000077264	ENSG00000077264	HGNC:8592													
PANK2	gene	PANK2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200						False	1	0;0;100	1.116	True		ENSG00000125779	ENSG00000125779	HGNC:15894													
PAX5	gene	PAX5	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Leukemia, acute lymphoblastic, susceptibility to, 3} MIM#615545				PMID: 24013638		False	1	0;0;100	1.116	True		ENSG00000196092	ENSG00000196092	HGNC:8619													
PAX6	gene	PAX6	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aniridia, OMIM 106210						False	1	0;50;50	1.116	True		ENSG00000007372	ENSG00000007372	HGNC:8620													
PCNT	gene	PCNT	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Microcephalic osteodysplastic primordial dwarfism, type II, 210720						False	1	0;0;100	1.116	True		ENSG00000160299	ENSG00000160299	HGNC:16068													
PDE11A	gene	PDE11A	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Adrenocortical hyperplasia						False	1	0;0;0	1.116	False		ENSG00000128655	ENSG00000128655	HGNC:8773													
PDE4D	gene	PDE4D	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Acrodysostosis 2, with or without hormone resistance, MIM#614613						False	1	0;0;100	1.116	True		ENSG00000113448	ENSG00000113448	HGNC:8783													
PDLIM3	gene	PDLIM3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated						False	1	0;0;0	1.116	False		ENSG00000154553	ENSG00000154553	HGNC:20767													
PDSS1	gene	PDSS1	BabySeq Category C gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Coenzyme Q10 deficiency, primary, 2, MIM#	614651;Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal"						False	1	0;0;0	1.116	False		ENSG00000148459	ENSG00000148459	HGNC:17759													
PDSS2	gene	PDSS2	BabySeq Category C gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Coenzyme Q10 deficiency, primary, 3, MIM#	614652;Leigh syndrome with nephropathy and COQ10 deficiency"						False	1	0;0;0	1.116	False		ENSG00000164494	ENSG00000164494	HGNC:23041													
PEX1	gene	PEX1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Peroxisome biogenesis disorder 1A (Zellweger), MIM#	214100"						False	1	0;0;100	1.116	True		ENSG00000127980	ENSG00000127980	HGNC:8850													
PEX10	gene	PEX10	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870)						False	1	0;0;100	1.116	True		ENSG00000157911	ENSG00000157911	HGNC:8851													
PEX11B	gene	PEX11B	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder						False	1	0;0;0	1.116	False		ENSG00000131779	ENSG00000131779	HGNC:8853													
PEX12	gene	PEX12	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859)						False	1	0;0;100	1.116	True		ENSG00000108733	ENSG00000108733	HGNC:8854													
PEX13	gene	PEX13	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)						False	1	0;0;100	1.116	True		ENSG00000162928	ENSG00000162928	HGNC:8855													
PEX14	gene	PEX14	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Zellweger syndrome						False	1	0;0;0	1.116	False		ENSG00000142655	ENSG00000142655	HGNC:8856													
PEX16	gene	PEX16	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Zellweger syndrome						False	1	0;0;0	1.116	False		ENSG00000121680	ENSG00000121680	HGNC:8857													
PEX19	gene	PEX19	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Zellweger syndrome						False	1	0;0;0	1.116	False		ENSG00000162735	ENSG00000162735	HGNC:9713													
PEX2	gene	PEX2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866						False	1	0;0;100	1.116	True		ENSG00000164751	ENSG00000164751	HGNC:9717													
PEX26	gene	PEX26	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872						False	1	0;0;100	1.116	True		ENSG00000215193	ENSG00000215193	HGNC:22965													
PEX3	gene	PEX3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 10A (Zellweger) 614882						False	1	0;0;100	1.116	True		ENSG00000034693	ENSG00000034693	HGNC:8858													
PEX5	gene	PEX5	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 10A (Zellweger) 614882						False	1	0;0;100	1.116	True		ENSG00000139197	ENSG00000139197	HGNC:9719													
PEX6	gene	PEX6	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)						False	1	0;0;100	1.116	True		ENSG00000124587	ENSG00000124587	HGNC:8859													
PEX7	gene	PEX7	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 9B, MIM# 614879;Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100						False	1	0;0;100	1.116	True		ENSG00000112357	ENSG00000112357	HGNC:8860													
PFKM	gene	PFKM	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Glycogen storage disease VII (MIM#232800)				7550225		False	1	0;0;100	1.116	True		ENSG00000152556	ENSG00000152556	HGNC:8877													
PHF6	gene	PHF6	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Borjeson-Forssman-Lehmann syndrome, MIM# 301900						False	1	0;0;100	1.116	True		ENSG00000156531	ENSG00000156531	HGNC:18145													
PHKA1	gene	PHKA1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phosphorylase kinase deficiency						False	1	0;0;0	1.116	False		ENSG00000067177	ENSG00000067177	HGNC:8925													
PHOX2A	gene	PHOX2A	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Fibrosis of extraocular muscles, congenital						False	1	0;0;0	1.116	False		ENSG00000165462	ENSG00000165462	HGNC:691													
PHOX2B	gene	PHOX2B	BabySeq Category B gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MIM# 209880						False	1	0;0;100	1.116	True		ENSG00000109132	ENSG00000109132	HGNC:9143													
PHYH	gene	PHYH	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Refsum disease, MIM# 266500						False	1	0;0;100	1.116	True		ENSG00000107537	ENSG00000107537	HGNC:8940													
PIEZO2	gene	PIEZO2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Marden-Walker syndrome (MIM#248700);Arthrogryposis, distal, type 3 (MIM#114300);Arthrogryposis, distal, type 5 (MIM#108145);Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146						False	1	0;0;100	1.116	True		ENSG00000154864	ENSG00000154864	HGNC:26270													
PIGA	gene	PIGA	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466				32694024;24706016;26545172;24357517;33333793;22305531		False	1	0;50;50	1.116	True		ENSG00000165195	ENSG00000165195	HGNC:8957													
PIK3CA	gene	PIK3CA	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	PIK3CA related overgrowth spectrum				33392635;33639990		False	1	0;0;100	1.116	True		ENSG00000121879	ENSG00000121879	HGNC:8975													
PINK1	gene	PINK1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Parkinson disease 6, early onset, MIM#605909						False	1	0;0;100	1.116	True		ENSG00000158828	ENSG00000158828	HGNC:14581													
PKHD1	gene	PKHD1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200						False	1	0;0;100	1.116	True		ENSG00000170927	ENSG00000170927	HGNC:9016													
PLA2G6	gene	PLA2G6	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Infantile neuroaxonal dystrophy 1 MIM#256600;Neurodegeneration with brain iron accumulation 2B MIM#610217;Parkinson disease 14, autosomal recessive MIM#612953						False	1	0;0;100	1.116	True		ENSG00000184381	ENSG00000184381	HGNC:9039													
PLCE1	gene	PLCE1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 3, MIM# 610725						False	1	0;0;100	1.116	True		ENSG00000138193	ENSG00000138193	HGNC:17175													
PLEC	gene	PLEC	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670;Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138;Epidermolysis bullosa simplex, Ogna type MIM#131950;Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723						False	1	0;0;100	1.116	True		ENSG00000178209	ENSG00000178209	HGNC:9069													
PLN	gene	PLN	BabySeq Category B gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, dilated						False	1	0;0;0	1.116	False		ENSG00000198523	ENSG00000198523	HGNC:9080													
PLOD1	gene	PLOD1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400						False	1	0;0;100	1.116	True		ENSG00000083444	ENSG00000083444	HGNC:9081													
PLOD2	gene	PLOD2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Bruck syndrome 2, MIM# 609220						False	1	0;0;100	1.116	True		ENSG00000152952	ENSG00000152952	HGNC:9082													
PLP1	gene	PLP1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Pelizaeus-Merzbacher disease MIM#312080;Spastic paraplegia 2, X-linked MIM#312920						False	1	0;0;100	1.116	True		ENSG00000123560	ENSG00000123560	HGNC:9086													
PMM2	gene	PMM2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ia, MIM# 212065				30740725;31636082		False	1	0;0;100	1.116	True		ENSG00000140650	ENSG00000140650	HGNC:9115													
PMP22	gene	PMP22	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Charcot-Marie-Tooth disease, type 1A, MIM# 118220;Charcot-Marie-Tooth disease, type 1E, MIM# 118300;Dejerine-Sottas disease, MIM# 145900;Neuropathy, recurrent, with pressure palsies 162500;Roussy-Levy syndrome 180800						False	1	0;0;100	1.116	True		ENSG00000109099	ENSG00000109099	HGNC:9118													
PNKD	gene	PNKD	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800						False	1	0;0;100	1.116	True		ENSG00000127838	ENSG00000127838	HGNC:9153													
PNKP	gene	PNKP	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ataxia-oculomotor apraxia 4, MIM#616267;Microcephaly, seizures, and developmental delay, MIM#613402				27125728;27066567;27232581		False	1	0;0;100	1.116	True		ENSG00000039650	ENSG00000039650	HGNC:9154													
PNPLA1	gene	PNPLA1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, autosomal recessive congenital						False	1	0;0;0	1.116	False		ENSG00000180316	ENSG00000180316	HGNC:21246													
PODXL	gene	PODXL	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Focal and segmental glomerulosclerosis						False	1	0;0;0	1.116	False		ENSG00000128567	ENSG00000128567	HGNC:9171													
POLG	gene	POLG	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700;Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459;Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450;Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640				30451971;21880868		False	1	0;50;50	1.116	True		ENSG00000140521	ENSG00000140521	HGNC:9179													
POLH	gene	POLH	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, variant type, MIM# 278750						False	1	0;0;100	1.116	True		ENSG00000170734	ENSG00000170734	HGNC:9181													
POMGNT1	gene	POMGNT1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830;Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135;Retinitis pigmentosa 76, MIM# 617123						False	1	0;0;100	1.116	True		ENSG00000085998	ENSG00000085998	HGNC:19139													
POMT1	gene	POMT1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308						False	1	0;0;100	1.116	True		ENSG00000130714	ENSG00000130714	HGNC:9202													
POMT2	gene	POMT2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 MIM# 613158						False	1	0;0;100	1.116	True		ENSG00000009830	ENSG00000009830	HGNC:19743													
PORCN	gene	PORCN	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Focal dermal hypoplasia, MIM#305600						False	1	0;0;100	1.116	True		ENSG00000102312	ENSG00000102312	HGNC:17652													
POU4F3	gene	POU4F3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Deafness, autosomal dominant 15, MIM# 602459						False	1	0;0;100	1.116	True		ENSG00000091010	ENSG00000091010	HGNC:9220													
PPIB	gene	PPIB	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type IX, MIM# 259440				19781681;32392875		False	1	0;0;100	1.116	True		ENSG00000166794	ENSG00000166794	HGNC:9255													
PPT1	gene	PPT1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 1, MIM# 256730				21990111		False	1	0;0;100	1.116	True		ENSG00000131238	ENSG00000131238	HGNC:9325													
PQBP1	gene	PQBP1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Renpenning syndrome, MIM#309500						False	1	0;0;100	1.116	True		ENSG00000102103	ENSG00000102103	HGNC:9330													
PRDM16	gene	PRDM16	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Left ventricular noncompaction						False	1	0;0;0	1.116	False		ENSG00000142611	ENSG00000142611	HGNC:14000													
PREPL	gene	PREPL	BabySeq Category C gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Hypotonia - cystinuria syndrome;Myasthenic syndrome, congenital, 22, MIM#	616224"						False	1	0;0;0	1.116	False		ENSG00000138078	ENSG00000138078	HGNC:30228													
PRICKLE1	gene	PRICKLE1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 1B						False	1	0;0;0	1.116	False		ENSG00000139174	ENSG00000139174	HGNC:17019													
PRKAG2	gene	PRKAG2	BabySeq Category A gene;BabySeq Category B gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, hypertrophic;Wolff-Parkinson-White syndrome;Glycogen storage disease of heart, lethal congenital						False	1	0;0;0	1.116	False		ENSG00000106617	ENSG00000106617	HGNC:9386													
PRKCSH	gene	PRKCSH	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic liver disease						False	1	0;0;0	1.116	False		ENSG00000130175	ENSG00000130175	HGNC:9411													
PROC	gene	PROC	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Thrombophilia due to protein C deficiency, autosomal dominant (176860);Thrombophilia due to protein C deficiency, autosomal recessive (612304)						False	1	0;0;100	1.116	True		ENSG00000115718	ENSG00000115718	HGNC:9451													
PRODH	gene	PRODH	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyperprolinemia, type I						False	1	0;0;0	1.116	False		ENSG00000100033	ENSG00000100033	HGNC:9453													
PROKR2	gene	PROKR2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200						False	1	0;0;100	1.116	True		ENSG00000101292	ENSG00000101292	HGNC:15836													
PROS1	gene	PROS1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336;Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514						False	1	0;0;100	1.116	True		ENSG00000184500	ENSG00000184500	HGNC:9456													
PRPS1	gene	PRPS1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Charcot-Marie-Tooth disease;Arts syndrome						False	1	0;0;0	1.116	False		ENSG00000147224	ENSG00000147224	HGNC:9462													
PRRX1	gene	PRRX1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Agnathia-otocephaly complex						False	1	0;0;0	1.116	False		ENSG00000116132	ENSG00000116132	HGNC:9142													
PRX	gene	PRX	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 4F, MIM# 614895;Dejerine-Sottas disease, MIM# 145900						False	1	0;0;100	1.116	True		ENSG00000105227	ENSG00000105227	HGNC:13797													
PSAP	gene	PSAP	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Parkinson disease;Combined SAP deficiency, MIM# 611721;Encephalopathy due to prosaposin deficiency, MONDO:0012719;Krabbe disease, atypical, MIM# 611722;Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900;Gaucher disease, atypical, MIM# 610539						False	1	0;0;100	1.116	True		ENSG00000197746	ENSG00000197746	HGNC:9498													
PSAT1	gene	PSAT1	BabySeq Category C gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Phosphoserine aminotransferase deficiency , MIM#	610992;Phosphoserine aminotransferase deficiency"						False	1	0;0;0	1.116	False		ENSG00000135069	ENSG00000135069	HGNC:19129													
PSEN1	gene	PSEN1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alzheimer disease, type 3						False	1	0;0;0	1.116	False		ENSG00000080815	ENSG00000080815	HGNC:9508													
PSEN2	gene	PSEN2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alzheimer disease, type 4						False	1	0;0;0	1.116	False		ENSG00000143801	ENSG00000143801	HGNC:9509													
PTEN	gene	PTEN	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cowden syndrome 1, MIM# 158350;Macrocephaly/autism syndrome, MIM# 605309						False	1	0;0;100	1.116	True		ENSG00000171862	ENSG00000171862	HGNC:9588													
PTH1R	gene	PTH1R	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Failure of tooth eruption, primary MIM#125350;Eiken syndrome MIM#600002;Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400;Chondrodysplasia, Blomstrand type MIM#215045						False	1	0;0;100	1.116	True		ENSG00000160801	ENSG00000160801	HGNC:9608													
PTPN11	gene	PTPN11	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 1, MIM# 163950						False	1	0;0;100	1.116	True		ENSG00000179295	ENSG00000179295	HGNC:9644													
PYGM	gene	PYGM	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	McArdle disease, MIM# 232600;Glycogen storage disease, autosomal dominant						False	1	0;0;100	1.116	True		ENSG00000068976	ENSG00000068976	HGNC:9726													
RAB10	gene	RAB10	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease						False	1	0;0;0	1.116	False		ENSG00000084733	ENSG00000084733	HGNC:9759													
RAB23	gene	RAB23	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Carpenter syndrome (MIM#201000)						False	1	0;0;100	1.116	True		ENSG00000112210	ENSG00000112210	HGNC:14263													
RAB3GAP1	gene	RAB3GAP1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420						False	1	0;0;100	1.116	True		ENSG00000115839	ENSG00000115839	HGNC:17063													
RAB3GAP2	gene	RAB3GAP2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Warburg micro syndrome 2, MIM# 614225				20967465;23420520		False	1	0;0;100	1.116	True		ENSG00000118873	ENSG00000118873	HGNC:17168													
RAB7A	gene	RAB7A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Charcot-Marie-Tooth disease, type 2B, MIM# 600882						False	1	0;0;100	1.116	True		ENSG00000075785	ENSG00000075785	HGNC:9788													
RAD51B	gene	RAD51B	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Breast and/or ovarian cancer						False	1	0;0;0	1.116	False		ENSG00000182185	ENSG00000182185	HGNC:9822													
RAF1	gene	RAF1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 5, MIM# 611553						False	1	0;0;100	1.116	True		ENSG00000132155	ENSG00000132155	HGNC:9829													
RAI1	gene	RAI1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Smith-Magenis syndrome (MIM#182290)						False	1	0;0;100	1.116	True		ENSG00000108557	ENSG00000108557	HGNC:9834													
RANGRF	gene	RANGRF	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome						False	1	0;0;0	1.116	False		ENSG00000108961	ENSG00000108961	HGNC:17679													
RASA1	gene	RASA1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Capillary malformation-arteriovenous malformation 1, MIM#608354						False	1	0;0;100	1.116	True		ENSG00000145715	ENSG00000145715	HGNC:9871													
RBM8A	gene	RBM8A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Thrombocytopenia-absent radius syndrome, MIM# 274000						False	1	0;0;100	1.116	True		ENSG00000131795	ENSG00000265241	HGNC:9905													
RECQL4	gene	RECQL4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Rothmund-Thomson syndrome, type 2, MIM# 268400						False	1	0;0;100	1.116	True		ENSG00000160957	ENSG00000160957	HGNC:9949													
RELN	gene	RELN	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Lissencephaly syndrome						False	1	0;0;0	1.116	False		ENSG00000189056	ENSG00000189056	HGNC:9957													
REN	gene	REN	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Renal tubular dysgenesis, MIM# 267430						False	1	0;0;100	1.116	True		ENSG00000143839	ENSG00000143839	HGNC:9958													
RETREG1	gene	RETREG1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115				31737055;31596031;24327336;19838196		False	1	0;0;100	1.116	True		ENSG00000154153	ENSG00000154153	HGNC:25964													
RFWD3	gene	RFWD3	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Fanconi anaemia, complementation group W, MIM# 	617784"						False	1	0;0;100	1.116	True		ENSG00000168411	ENSG00000168411	HGNC:25539													
RFX6	gene	RFX6	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Diabetes, neonatal, with intestinal atresia						False	1	0;0;0	1.116	False		ENSG00000185002	ENSG00000185002	HGNC:21478													
RHAG	gene	RHAG	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Rh-deficiency syndrome						False	1	0;0;0	1.116	False		ENSG00000112077	ENSG00000112077	HGNC:10006													
ROR2	gene	ROR2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Robinow syndrome, autosomal recessive - MIM#268310						False	1	0;0;100	1.116	True		ENSG00000169071	ENSG00000169071	HGNC:10257													
RPGR	gene	RPGR	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455						False	1	0;0;100	1.116	True		ENSG00000156313	ENSG00000156313	HGNC:10295													
RPGRIP1L	gene	RPGRIP1L	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 7, MIM# 611560;Meckel syndrome 5, MIM# 611561;COACH syndrome 3, MIM# 619113;Nephronophthisis						False	1	0;0;100	1.116	True		ENSG00000103494	ENSG00000103494	HGNC:29168													
RPL18	gene	RPL18	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Diamond-Blackfan anaemia 18 , MIM#	618310"						False	1	0;0;100	1.116	True		ENSG00000063177	ENSG00000063177	HGNC:10310													
RPL26	gene	RPL26	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Diamond-Blackfan anaemia 11 , MIM#	614900"						False	1	0;0;100	1.116	True		ENSG00000161970	ENSG00000161970	HGNC:10327													
RPL27	gene	RPL27	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Diamond-Blackfan anaemia 16 , MIM#	617408"						False	1	0;0;100	1.116	True		ENSG00000131469	ENSG00000131469	HGNC:10328													
RPL35	gene	RPL35	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Diamond-Blackfan anaemia 19 , MIM#	618312"						False	1	0;0;100	1.116	True		ENSG00000136942	ENSG00000136942	HGNC:10344													
RPS15	gene	RPS15	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related				19061985		False	1	0;0;100	1.116	True		ENSG00000115268	ENSG00000115268	HGNC:10388													
RPS15A	gene	RPS15A	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Diamond-Blackfan anaemia 20, MIM# 	618313"						False	1	0;0;100	1.116	True		ENSG00000134419	ENSG00000134419	HGNC:10389													
RPS27	gene	RPS27	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Diamond-Blackfan anaemia 17, MIM# 	617409"						False	1	0;0;100	1.116	True		ENSG00000177954	ENSG00000177954	HGNC:10416													
RPS28	gene	RPS28	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM#	606164"						False	1	0;0;100	1.116	True		ENSG00000233927	ENSG00000233927	HGNC:10418													
RPS29	gene	RPS29	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Diamond-Blackfan anaemia 13, MIM#	615909"						False	1	0;0;100	1.116	True		ENSG00000213741	ENSG00000213741	HGNC:10419													
RPS6KA3	gene	RPS6KA3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Coffin-Lowry syndrome MIM# 303600						False	1	0;0;100	1.116	True		ENSG00000177189	ENSG00000177189	HGNC:10432													
RRM2B	gene	RRM2B	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075;Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315						False	1	0;0;100	1.116	True		ENSG00000048392	ENSG00000048392	HGNC:17296													
RS1	gene	RS1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Retinoschisis, MIM#312700						False	1	0;0;100	1.116	True		ENSG00000102104	ENSG00000102104	HGNC:10457													
RSPH4A	gene	RSPH4A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 11 (MIM#612649)						False	1	0;0;100	1.116	True		ENSG00000111834	ENSG00000111834	HGNC:21558													
RSPH9	gene	RSPH9	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 12 (MIM#612650)						False	1	0;0;100	1.116	True		ENSG00000172426	ENSG00000172426	HGNC:21057													
RUNX2	gene	RUNX2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cleidocranial dysplasia MIM#119600;Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600;Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510						False	1	0;0;100	1.116	True		ENSG00000124813	ENSG00000124813	HGNC:10472													
SACS	gene	SACS	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Spastic ataxia, Charlevoix-Saguenay type MIM#270550						False	1	0;0;100	1.116	True		ENSG00000151835	ENSG00000151835	HGNC:10519													
SALL1	gene	SALL1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Townes-Brocks syndrome 1, MIM#107480						False	1	0;0;100	1.116	True		ENSG00000103449	ENSG00000103449	HGNC:10524													
SARS	gene	SARS	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, ataxia, and seizures MIM#617709				PMID:34570399, PMID: 34194004		False	1	0;0;100	1.116	True		ENSG00000031698	ENSG00000031698	HGNC:10537													
SC5D	gene	SC5D	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Lathosterolosis						False	1	0;0;0	1.116	False		ENSG00000109929	ENSG00000109929	HGNC:10547													
SCARB2	gene	SCARB2	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 4, with or without renal failure MIM#254900				PMID: 34337151, PMID: 35346091, PMID: 26677510		False	1	0;0;100	1.116	True		ENSG00000138760	ENSG00000138760	HGNC:1665													
SCN11A	gene	SCN11A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548						False	1	0;0;100	1.116	True		ENSG00000168356	ENSG00000168356	HGNC:10583													
SCN1A	gene	SCN1A	BabySeq Category A gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM#604403;Developmental and epileptic encephalopathy 6B, non-Dravet	, MIM#619317"				20301494		False	1	50;0;50	1.116	True		ENSG00000144285	ENSG00000144285	HGNC:10585													
SCN1B	gene	SCN1B	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome						False	1	0;0;0	1.116	False		ENSG00000105711	ENSG00000105711	HGNC:10586													
SCN2A	gene	SCN2A	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Developmental and epileptic encephalopathy 11, MIM#	613721"						False	1	50;0;50	1.116	True		ENSG00000136531	ENSG00000136531	HGNC:10588													
SCN2B	gene	SCN2B	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atrial fibrillation						False	1	0;0;0	1.116	False		ENSG00000149575	ENSG00000149575	HGNC:10589													
SCN3A	gene	SCN3A	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epileptic encephalopathy, early infantile, 62, MIM# 617938				34081427		False	1	50;0;50	1.116	True		ENSG00000153253	ENSG00000153253	HGNC:10590													
SCN3B	gene	SCN3B	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brugada syndrome						False	1	0;0;0	1.116	False		ENSG00000166257	ENSG00000166257	HGNC:20665													
SCN4A	gene	SCN4A	BabySeq Category A gene;BabySeq Category C gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperkalemic periodic paralysis, type 2, MIM# 170500;Hypokalemic periodic paralysis, type 2;Paramyotonia congenita , MIM#168300;Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390;Myasthenic syndrome, congenital, 16, MIM# 614198;Hyperkalemic periodic paralysis, type 2;Hypokalemic periodic paralysis, type 2, MIM# 613345						False	1	0;0;0	1.116	False		ENSG00000007314	ENSG00000007314	HGNC:10591													
SCN4B	gene	SCN4B	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Long QT syndrome						False	1	0;0;0	1.116	False		ENSG00000177098	ENSG00000177098	HGNC:10592													
SCN8A	gene	SCN8A	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental and epileptic encephalopathy 13, MIM#614558						False	1	50;0;50	1.116	True		ENSG00000196876	ENSG00000196876	HGNC:10596													
SCO1	gene	SCO1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hepatic failure, early onset, and neurologic disorder						False	1	0;0;0	1.116	False		ENSG00000133028	ENSG00000133028	HGNC:10603													
SCO2	gene	SCO2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377						False	1	0;0;100	1.116	True		ENSG00000130489	ENSG00000130489	HGNC:10604													
SCP2	gene	SCP2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy - dystonia - motor neuropathy						False	1	0;0;0	1.116	False		ENSG00000116171	ENSG00000116171	HGNC:10606													
SDHD	gene	SDHD	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167;Paragangliomas 1, with or without deafness, MIM# 168000						False	1	0;0;100	1.116	True		ENSG00000204370	ENSG00000204370	HGNC:10683													
SEC63	gene	SEC63	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic liver disease						False	1	0;0;0	1.116	False		ENSG00000025796	ENSG00000025796	HGNC:21082													
SELENON	gene	SELENON	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Myopathy, congenital, with fiber-type disproportion, MIM# 255310						False	1	0;0;100	1.116	True		ENSG00000162430	ENSG00000162430	HGNC:15999													
SEMA3A	gene	SEMA3A	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Kallmann syndrome 1						False	1	0;0;0	1.116	False		ENSG00000075213	ENSG00000075213	HGNC:10723													
SERPINA1	gene	SERPINA1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490						False	1	0;50;50	1.116	True		ENSG00000197249	ENSG00000197249	HGNC:8941													
SERPINB6	gene	SERPINB6	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Deafness, autosomal recessive						False	1	0;0;0	1.116	False		ENSG00000124570	ENSG00000124570	HGNC:8950													
SERPINC1	gene	SERPINC1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thrombophilia due to antithrombin III deficiency						False	1	0;0;0	1.116	False		ENSG00000117601	ENSG00000117601	HGNC:775													
SERPIND1	gene	SERPIND1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Heparin cofactor 2 deficiency						False	1	0;0;0	1.116	False		ENSG00000099937	ENSG00000099937	HGNC:4838													
SERPING1	gene	SERPING1	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Angioedema, hereditary, 1 and 2 MIM#106100				PMID: 32898710		False	1	0;0;100	1.116	True		ENSG00000149131	ENSG00000149131	HGNC:1228													
SETBP1	gene	SETBP1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Schinzel-Giedion midface retraction syndrome, MIM# 269150						False	1	0;0;100	1.116	True		ENSG00000152217	ENSG00000152217	HGNC:15573													
SETX	gene	SETX	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 1, 606002						False	1	0;0;100	1.116	True		ENSG00000107290	ENSG00000107290	HGNC:445													
SFTPA2	gene	SFTPA2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pulmonary fibrosis, idiopathic						False	1	0;0;0	1.116	False		ENSG00000185303	ENSG00000185303	HGNC:10799													
SFTPB	gene	SFTPB	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120						False	1	0;0;100	1.116	True		ENSG00000168878	ENSG00000168878	HGNC:10801													
SFTPC	gene	SFTPC	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913						False	1	50;0;50	1.116	True		ENSG00000168484	ENSG00000168484	HGNC:10802													
SGCA	gene	SGCA	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099						False	1	0;0;100	1.116	True		ENSG00000108823	ENSG00000108823	HGNC:10805													
SGCB	gene	SGCB	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286						False	1	0;0;100	1.116	True		ENSG00000163069	ENSG00000163069	HGNC:10806													
SGCD	gene	SGCD	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287						False	1	0;0;100	1.116	True		ENSG00000170624	ENSG00000170624	HGNC:10807													
SGCG	gene	SGCG	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700						False	1	0;0;100	1.116	True		ENSG00000102683	ENSG00000102683	HGNC:10809													
SH3BP2	gene	SH3BP2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cherubism						False	1	0;0;0	1.116	False		ENSG00000087266	ENSG00000087266	HGNC:10825													
SH3TC2	gene	SH3TC2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 4C MIM#601596						False	1	0;0;100	1.116	True		ENSG00000169247	ENSG00000169247	HGNC:29427													
SHANK3	gene	SHANK3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phelan-McDermid syndrome, MIM# 606232;MONDO:0011652				17173049;30842224;16284256;20186804;22892527		False	1	0;0;100	1.116	True		ENSG00000251322	ENSG00000251322	HGNC:14294													
SHH	gene	SHH	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly 3, MIM#142945						False	1	0;0;100	1.116	True		ENSG00000164690	ENSG00000164690	HGNC:10848													
SHOC2	gene	SHOC2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan-like syndrome with loose anagen hair						False	1	0;0;0	1.116	False		ENSG00000108061	ENSG00000108061	HGNC:15454													
SIL1	gene	SIL1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Marinesco-Sjogren syndrome, MIM#248800						False	1	0;0;100	1.116	True		ENSG00000120725	ENSG00000120725	HGNC:24624													
SIX1	gene	SIX1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Branchiootic syndrome 3, MIM# 608389						False	1	0;0;100	1.116	True		ENSG00000126778	ENSG00000126778	HGNC:10887													
SIX2	gene	SIX2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Renal hypodysplasia						False	1	0;0;0	1.116	False		ENSG00000170577	ENSG00000170577	HGNC:10888													
SIX3	gene	SIX3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly 2, MIM# 157170						False	1	0;0;100	1.116	True		ENSG00000138083	ENSG00000138083	HGNC:10889													
SIX5	gene	SIX5	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Branchiootorenal syndrome						False	1	0;0;0	1.116	False		ENSG00000177045	ENSG00000177045	HGNC:10891													
SKI	gene	SKI	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Shprintzen-Goldberg syndrome, MIM#182212						False	1	0;0;100	1.116	True		ENSG00000157933	ENSG00000157933	HGNC:10896													
SLC11A2	gene	SLC11A2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Anemia, hypochromic microcytic						False	1	0;0;0	1.116	False		ENSG00000110911	ENSG00000110911	HGNC:10908													
SLC12A3	gene	SLC12A3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Gitelman syndrome, MIM# 263800						False	1	0;0;100	1.116	True		ENSG00000070915	ENSG00000070915	HGNC:10912													
SLC12A5	gene	SLC12A5	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Febrile seizures						False	1	0;0;0	1.116	False		ENSG00000124140	ENSG00000124140	HGNC:13818													
SLC12A6	gene	SLC12A6	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800						False	1	0;0;100	1.116	True		ENSG00000140199	ENSG00000140199	HGNC:10914													
SLC13A5	gene	SLC13A5	Expert Review Red;Literature	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905				29895383		False	1	0;50;50	1.116	True		ENSG00000141485	ENSG00000141485	HGNC:23089													
SLC16A12	gene	SLC16A12	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cataract, juvenile with microcornea and renal glucosuria						False	1	0;0;0	1.116	False		ENSG00000152779	ENSG00000152779	HGNC:23094													
SLC17A5	gene	SLC17A5	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Sialic acid storage disorder, infantile, MIM# 269920						False	1	0;0;100	1.116	True		ENSG00000119899	ENSG00000119899	HGNC:10933													
SLC1A3	gene	SLC1A3	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Episodic ataxia, type 6 MIM#612656				PMID: 32754645		False	1	0;0;100	1.116	True		ENSG00000079215	ENSG00000079215	HGNC:10941													
SLC25A12	gene	SLC25A12	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypomyelination, global cerebral						False	1	0;0;0	1.116	False		ENSG00000115840	ENSG00000115840	HGNC:10982													
SLC25A22	gene	SLC25A22	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Early myoclonic encephalopathy						False	1	0;0;0	1.116	False		ENSG00000177542	ENSG00000177542	HGNC:19954													
SLC25A4	gene	SLC25A4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418						False	1	0;0;100	1.116	True		ENSG00000151729	ENSG00000151729	HGNC:10990													
SLC26A2	gene	SLC26A2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Achondrogenesis 1B, MIM#600972						False	1	0;0;100	1.116	True		ENSG00000155850	ENSG00000155850	HGNC:10994													
SLC27A4	gene	SLC27A4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis prematurity syndrome, MIM#608649				20301593		False	1	0;0;100	1.116	True		ENSG00000167114	ENSG00000167114	HGNC:10998													
SLC27A5	gene	SLC27A5	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Bile acid amidation defect						False	1	0;0;0	1.116	False		ENSG00000083807	ENSG00000083807	HGNC:10999													
SLC2A10	gene	SLC2A10	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Arterial tortuosity syndrome MIM#208050						False	1	0;0;100	1.116	True		ENSG00000197496	ENSG00000197496	HGNC:13444													
SLC33A1	gene	SLC33A1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spastic paraplegia, autosomal dominant;Congenital cataracts, hearing loss and low serum copper and ceruloplasmin						False	1	0;0;0	1.116	False		ENSG00000169359	ENSG00000169359	HGNC:95													
SLC34A2	gene	SLC34A2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Pulmonary alveolar microlithiasis, MIM# 265100						False	1	0;0;100	1.116	True		ENSG00000157765	ENSG00000157765	HGNC:11020													
SLC35A1	gene	SLC35A1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	CDG syndrome type IIf						False	1	0;0;0	1.116	False		ENSG00000164414	ENSG00000164414	HGNC:11021													
SLC35D1	gene	SLC35D1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Schneckenbecken dysplasia 269250, MONDO:0010013						False	1	0;0;100	1.116	True		ENSG00000116704	ENSG00000116704	HGNC:20800													
SLC3A1	gene	SLC3A1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cystinuria, MIM# 220100						False	1	0;0;100	1.116	True		ENSG00000138079	ENSG00000138079	HGNC:11025													
SLC41A1	gene	SLC41A1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis-like nephropathy 2, MIM# 619468				23661805		False	1	0;0;0	1.116	False		ENSG00000133065	ENSG00000133065	HGNC:19429													
SLC45A2	gene	SLC45A2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Albinism, oculocutaneous, type IV, MIM# 606574						False	1	0;0;100	1.116	True		ENSG00000164175	ENSG00000164175	HGNC:16472													
SLC4A10	gene	SLC4A10	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy & mental retardation						False	1	0;0;0	1.116	False		ENSG00000144290	ENSG00000144290	HGNC:13811													
SLC4A11	gene	SLC4A11	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Corneal endothelial dystrophy and perceptive deafness, MIM# 217400						False	1	0;0;100	1.116	True		ENSG00000088836	ENSG00000088836	HGNC:16438													
SLC4A4	gene	SLC4A4	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278						False	1	0;0;100	1.116	True		ENSG00000080493	ENSG00000080493	HGNC:11030													
SLC5A2	gene	SLC5A2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Renal glucosuria, MIM# 233100						False	1	0;0;100	1.116	True		ENSG00000140675	ENSG00000140675	HGNC:11037													
SLC6A19	gene	SLC6A19	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hartnup disorder, MIM # 234500						False	1	0;0;100	1.116	True		ENSG00000174358	ENSG00000174358	HGNC:27960													
SLC6A2	gene	SLC6A2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Orthostatic intolerance						False	1	0;0;0	1.116	False		ENSG00000103546	ENSG00000103546	HGNC:11048													
SLC7A9	gene	SLC7A9	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cystinuria, MIM# 220100						False	1	0;0;100	1.116	True		ENSG00000021488	ENSG00000021488	HGNC:11067													
SLC9A3R1	gene	SLC9A3R1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Nephrolithiasis/osteoporosis, hypophosphatemic, 2						False	1	0;0;0	1.116	False		ENSG00000109062	ENSG00000109062	HGNC:11075													
SLC9A6	gene	SLC9A6	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked syndromic, Christianson type, MIM# 300243						False	1	0;0;100	1.116	True		ENSG00000198689	ENSG00000198689	HGNC:11079													
SLCO1B1	gene	SLCO1B1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyperbilirubinemia, Rotor type, digenic						False	1	0;0;0	1.116	False		ENSG00000134538	ENSG00000134538	HGNC:10959													
SLCO1B3	gene	SLCO1B3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyperbilirubinemia, Rotor type, digenic						False	1	0;0;0	1.116	False		ENSG00000111700	ENSG00000111700	HGNC:10961													
SLCO2A1	gene	SLCO2A1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441;Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100				22331663;27134495;33852188;23509104		False	1	0;0;100	1.116	True		ENSG00000174640	ENSG00000174640	HGNC:10955													
SMAD1	gene	SMAD1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pulmonary arterial hypertension						False	1	0;0;0	1.116	False		ENSG00000170365	ENSG00000170365	HGNC:6767													
SMAD4	gene	SMAD4	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polyposis, juvenile intestinal, MIM# 174900;Myhre syndrome, MIM# 139210				20301642		False	1	0;0;100	1.116	True		ENSG00000141646	ENSG00000141646	HGNC:6770													
SMAD6	gene	SMAD6	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiovascular malformation, congenital						False	1	0;0;0	1.116	False		ENSG00000137834	ENSG00000137834	HGNC:6772													
SMAD9	gene	SMAD9	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pulmonary arterial hypertension						False	1	0;0;0	1.116	False		ENSG00000120693	ENSG00000120693	HGNC:6774													
SMC1A	gene	SMC1A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Cornelia de Lange syndrome 2, MIM# 300590;Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044						False	1	0;0;100	1.116	True		ENSG00000072501	ENSG00000072501	HGNC:11111													
SMO	gene	SMO	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Medulloblastoma						False	1	0;0;0	1.116	False		ENSG00000128602	ENSG00000128602	HGNC:11119													
SMPX	gene	SMPX	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Deafness, X-linked 4, MIM# 300066						False	1	0;0;100	1.116	True		ENSG00000091482	ENSG00000091482	HGNC:11122													
SNAP25	gene	SNAP25	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder, MONDO:0700092, SNAP25-related				20301347		False	1	0;0;100	1.116	True		ENSG00000132639	ENSG00000132639	HGNC:11132													
SNAP29	gene	SNAP29	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome						False	1	0;0;0	1.116	False		ENSG00000099940	ENSG00000099940	HGNC:11133													
SOD1	gene	SOD1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyotrophic lateral sclerosis						False	1	0;0;0	1.116	False		ENSG00000142168	ENSG00000142168	HGNC:11179													
SORD	gene	SORD	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Sorbitol dehydrogenase deficiency with peripheral neuropathy MIM#618912				PMID: 32367058		False	1	0;0;100	1.116	True		ENSG00000140263	ENSG00000140263	HGNC:11184													
SOX10	gene	SOX10	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Shah-Waardenburg syndrome						False	1	0;0;100	1.116	True		ENSG00000100146	ENSG00000100146	HGNC:11190													
SOX18	gene	SOX18	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypotrichosis-lymphedema-telangiectasia syndrome						False	1	0;0;0	1.116	False		ENSG00000203883	ENSG00000203883	HGNC:11194													
SOX9	gene	SOX9	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Campomelic dysplasia, MIM# 114290						False	1	0;0;100	1.116	True		ENSG00000125398	ENSG00000125398	HGNC:11204													
SPARC	gene	SPARC	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type XVII, MIM# 616507				26027498;34462290		False	1	0;0;100	1.116	True		ENSG00000113140	ENSG00000113140	HGNC:11219													
SPEG	gene	SPEG	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Centronuclear myopathy 5, MIM# 615959				26578207;25087613;30157964;29614691;28624463;30412272;31625632;29474540		False	1	0;0;100	1.116	True		ENSG00000072195	ENSG00000072195	HGNC:16901													
SPINK5	gene	SPINK5	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Netherton syndrome MIM# 256500						False	1	0;0;100	1.116	True		ENSG00000133710	ENSG00000133710	HGNC:15464													
SPRED1	gene	SPRED1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Legius syndrome, MIM# 611431						False	1	0;0;100	1.116	True		ENSG00000166068	ENSG00000166068	HGNC:20249													
SPTA1	gene	SPTA1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Elliptocytosis-2 MIM# 130600;Pyropoikilocytosis MIM# 266140;Spherocytosis, type 3 MIM# 270970						False	1	0;0;100	1.116	True		ENSG00000163554	ENSG00000163554	HGNC:11272													
SPTB	gene	SPTB	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948						False	1	0;0;100	1.116	False		ENSG00000070182	ENSG00000070182	HGNC:11274													
SPTLC2	gene	SPTLC2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neuropathy, hereditary sensory and autonomic, type IC						False	1	0;0;0	1.116	False		ENSG00000100596	ENSG00000100596	HGNC:11278													
SRCAP	gene	SRCAP	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Floating-Harbor syndrome MIM#136140;Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595						False	1	0;0;100	1.116	True		ENSG00000080603	ENSG00000080603	HGNC:16974													
ST14	gene	ST14	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis hypotrichosis syndrome						False	1	0;0;0	1.116	False		ENSG00000149418	ENSG00000149418	HGNC:11344													
ST3GAL5	gene	ST3GAL5	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Amish infantile epilepsy syndrome						False	1	0;0;0	1.116	False		ENSG00000115525	ENSG00000115525	HGNC:10872													
STAC3	gene	STAC3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Myopathy, congenital, Baily-Bloch, MIM# 255995				28411587;30168660;23736855;28777491		False	1	0;0;100	1.116	True		ENSG00000185482	ENSG00000185482	HGNC:28423													
STRA6	gene	STRA6	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Microphthalmia, syndromic 9, MIM# 601186						False	1	0;0;100	1.116	True		ENSG00000137868	ENSG00000137868	HGNC:30650													
STS	gene	STS	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Ichthyosis, X-linked, MIM# 308100						False	1	0;0;100	1.116	True		ENSG00000101846	ENSG00000101846	HGNC:11425													
STXBP1	gene	STXBP1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Developmental and epileptic encephalopathy 4, MIM# 612164						False	1	0;0;100	1.116	True		ENSG00000136854	ENSG00000136854	HGNC:11444													
SUCLA2	gene	SUCLA2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791						False	1	0;0;100	1.116	True		ENSG00000136143	ENSG00000136143	HGNC:11448													
SUCLG1	gene	SUCLG1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400						False	1	0;0;100	1.116	True		ENSG00000163541	ENSG00000163541	HGNC:11449													
SUFU	gene	SUFU	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Medulloblastoma} MIM#155255				PMID: 29186568		False	1	0;0;100	1.116	True		ENSG00000107882	ENSG00000107882	HGNC:16466													
SURF1	gene	SURF1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 4K MIM#616684;Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110						False	1	0;0;100	1.116	True		ENSG00000148290	ENSG00000148290	HGNC:11474													
SYNE4	gene	SYNE4	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hearing loss						False	1	0;0;0	1.116	False		ENSG00000181392	ENSG00000181392	HGNC:26703													
SYT14	gene	SYT14	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive 11						False	1	0;0;0	1.116	False		ENSG00000143469	ENSG00000143469	HGNC:23143													
TAB2	gene	TAB2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease, nonsyndromic						False	1	0;0;0	1.116	False		ENSG00000055208	ENSG00000055208	HGNC:17075													
TARDBP	gene	TARDBP	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyotrophic lateral sclerosis type 10						False	1	0;0;0	1.116	False		ENSG00000120948	ENSG00000120948	HGNC:11571													
TAZ	gene	TAZ	BabySeq Category A gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Barth syndrome, MIM#302060				25299040		False	1	0;0;100	1.116	True		ENSG00000102125	ENSG00000102125	HGNC:11577													
TBC1D24	gene	TBC1D24	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	DOORS syndrome MIM#220500						False	1	0;0;100	1.116	True		ENSG00000162065	ENSG00000162065	HGNC:29203													
TBCE	gene	TBCE	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypoparathyroidism retardation dysmorphism syndrome						False	1	0;0;0	1.116	False		ENSG00000116957	ENSG00000116957	HGNC:11582													
TBX1	gene	TBX1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	DiGeorge syndrome MIM# 188400;Velocardiofacial syndrome MIM# 192430						False	1	0;50;50	1.116	True		ENSG00000184058	ENSG00000184058	HGNC:11592													
TBX20	gene	TBX20	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital heart disease						False	1	0;0;0	1.116	False		ENSG00000164532	ENSG00000164532	HGNC:11598													
TBX5	gene	TBX5	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holt-Oram syndrome, MIM# 142900						False	1	0;0;100	1.116	True		ENSG00000089225	ENSG00000089225	HGNC:11604													
TCAP	gene	TCAP	BabySeq Category A gene;BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cardiomyopathy, dilated;Muscular dystrophy, limb-girdle, type 2G						False	1	0;0;0	1.116	False		ENSG00000173991	ENSG00000173991	HGNC:11610													
TCOF1	gene	TCOF1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Treacher Collins syndrome 1, MIM# 154500						False	1	0;0;100	1.116	True		ENSG00000070814	ENSG00000070814	HGNC:11654													
TCTN1	gene	TCTN1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome						False	1	0;0;0	1.116	False		ENSG00000204852	ENSG00000204852	HGNC:26113													
TCTN3	gene	TCTN3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome						False	1	0;0;0	1.116	False		ENSG00000119977	ENSG00000119977	HGNC:24519													
TFAP2A	gene	TFAP2A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Branchiooculofacial syndrome, MIM 107580						False	1	0;50;50	1.116	True		ENSG00000137203	ENSG00000137203	HGNC:11742													
TFAP2B	gene	TFAP2B	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Char syndrome, MIM 169100						False	1	0;50;50	1.116	True		ENSG00000008196	ENSG00000008196	HGNC:11743													
TFG	gene	TFG	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484;Spastic paraplegia 57, autosomal recessive, MIM# 615658						False	1	0;0;100	1.116	True		ENSG00000114354	ENSG00000114354	HGNC:11758													
TFR2	gene	TFR2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hemochromatosis type 3						False	1	0;0;0	1.116	False		ENSG00000106327	ENSG00000106327	HGNC:11762													
TGFB1	gene	TGFB1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Camurati-Engelmann disease						False	1	0;0;0	1.116	False		ENSG00000105329	ENSG00000105329	HGNC:11766													
TGIF1	gene	TGIF1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly-4						False	1	0;0;0	1.116	False		ENSG00000177426	ENSG00000177426	HGNC:11776													
TGM1	gene	TGM1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)						False	1	0;0;100	1.116	True		ENSG00000092295	ENSG00000092295	HGNC:11777													
TGM5	gene	TGM5	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Peeling skin syndrome 2, MIM# 609796						False	1	0;0;100	1.116	True		ENSG00000104055	ENSG00000104055	HGNC:11781													
THAP11	gene	THAP11	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria, cblC type-like, MIM# 620940;Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related				PMID: 28449119, PMID: 31905202		False	1	0;0;100	1.116	True		ENSG00000168286	ENSG00000168286	HGNC:23194													
THBD	gene	THBD	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Haemolytic uraemic syndrome						False	1	0;0;0	1.116	False		ENSG00000178726	ENSG00000178726	HGNC:11784													
THBS1	gene	THBS1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pulmonary hypertension						False	1	0;0;0	1.116	False		ENSG00000137801	ENSG00000137801	HGNC:11785													
THRB	gene	THRB	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Thyroid hormone resistance, MIM# 188570;Thyroid hormone resistance, autosomal recessive, MIM# 274300;Thyroid hormone resistance, selective pituitary, MIM# 145650						False	1	0;0;100	1.116	True		ENSG00000151090	ENSG00000151090	HGNC:11799													
TIMM8A	gene	TIMM8A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mohr-Tranebjaerg syndrome MIM#304700				20301395		False	1	0;100;0	1.116	True		ENSG00000126953	ENSG00000126953	HGNC:11817													
TJP2	gene	TJP2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypercholanemia, familial						False	1	0;0;0	1.116	False		ENSG00000119139	ENSG00000119139	HGNC:11828													
TMC8	gene	TMC8	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Epidermodysplasia verruciformi						False	1	0;0;0	1.116	False		ENSG00000167895	ENSG00000167895	HGNC:20474													
TMEM216	gene	TMEM216	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome;Meckel syndrome						False	1	0;0;0	1.116	False		ENSG00000187049	ENSG00000187049	HGNC:25018													
TMEM237	gene	TMEM237	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome						False	1	0;0;0	1.116	False		ENSG00000155755	ENSG00000155755	HGNC:14432													
TMEM43	gene	TMEM43	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arrhythmogenic right ventricular dysplasia 5 MIM#604400				20301310;34674311		False	1	0;0;100	1.116	True		ENSG00000170876	ENSG00000170876	HGNC:28472													
TMEM67	gene	TMEM67	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	COACH syndrome MIM#216360;Joubert syndrome MIM#10688;Meckel syndrome MIM#607361;Nephronophthisis MIM#613550				20232449;26092869;27336129		False	1	0;0;100	1.116	True		ENSG00000164953	ENSG00000164953	HGNC:28396													
TMPO	gene	TMPO	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiomyopathy, dilated						False	1	0;0;0	1.116	False		ENSG00000120802	ENSG00000120802	HGNC:11875													
TNFAIP3	gene	TNFAIP3	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Autoinflammatory syndrome, familial, Behcet-like 1 MIM#616744				PMID: 31587140, PMID: 33101300		False	1	0;0;100	1.116	True		ENSG00000118503	ENSG00000118503	HGNC:11896													
TNFRSF13B	gene	TNFRSF13B	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Immunodeficiency, common variable, 2 MIM#240500				PMID: 31681716, PMID: 18981294		False	1	0;0;100	1.116	True		ENSG00000240505	ENSG00000240505	HGNC:18153													
TNFRSF13C	gene	TNFRSF13C	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Immunodeficiency, common variable, 4	MIM#613494"				PMID: 19666484, PMID: 27250108, PMID: 18025937		False	1	0;0;100	1.116	True		ENSG00000159958	ENSG00000159958	HGNC:17755													
TNFRSF1A	gene	TNFRSF1A	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Periodic fever, familial MIM#142680				PMID: 11175303, PMID: 32066461, PMID: 29773275, PMID: 32831641		False	1	0;0;100	1.116	True		ENSG00000067182	ENSG00000067182	HGNC:11916													
TNNI2	gene	TNNI2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arthrogryposis, distal, type 2B1 MIM#601680				34502093		False	1	0;0;100	1.116	True		ENSG00000130598	ENSG00000130598	HGNC:11946													
TNNT1	gene	TNNT1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nemaline myopathy 5, Amish type MIM#605355				29931346;10952871		False	1	0;0;100	1.116	True		ENSG00000105048	ENSG00000105048	HGNC:11948													
TNNT3	gene	TNNT3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arthrogryposis, distal MIM#618435				19309503		False	1	0;0;100	1.116	True		ENSG00000130595	ENSG00000130595	HGNC:11950													
TNXB	gene	TNXB	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome due to tenascin X deficiency						False	1	0;0;0	1.116	False		ENSG00000168477	ENSG00000168477	HGNC:11976													
TPM2	gene	TPM2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Arthrgryposis MIM#108120;Nemaline myopathy MIM#609285				27726070		False	1	0;0;100	1.116	True		ENSG00000198467	ENSG00000198467	HGNC:12011													
TPM3	gene	TPM3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CAP myopathy 1, MIM# 609284;Myopathy, congenital, with fiber-type disproportion, MIM# 255310;Nemaline myopathy 1, autosomal dominant or recessive, MIM# 609284				26307083;35668205		False	1	0;0;100	1.116	True		ENSG00000143549	ENSG00000143549	HGNC:12012													
TRAC	gene	TRAC	Expert Review;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387				21206088		False	1	0;0;100	1.116	True		ENSG00000229164	ENSG00000277734	HGNC:12029													
TRAPPC2	gene	TRAPPC2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Spondyloepiphyseal dysplasia tarda MIM#313400				20301324		False	1	0;0;100	1.116	True		ENSG00000196459	ENSG00000196459	HGNC:23068													
TRH	gene	TRH	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Thyrotropin-releasing hormone deficiency						False	1	0;0;0	1.116	False		ENSG00000170893	ENSG00000170893	HGNC:12298													
TRIM32	gene	TRIM32	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110				21496629;23142638		False	1	0;0;100	1.116	True		ENSG00000119401	ENSG00000119401	HGNC:16380													
TRIM37	gene	TRIM37	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mulibrey nanism MIM#253250				7735507;30586926		False	1	0;50;50	1.116	True		ENSG00000108395	ENSG00000108395	HGNC:7523													
TRIP11	gene	TRIP11	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Achondrogenesis type 1A						False	1	0;0;0	1.116	False		ENSG00000100815	ENSG00000100815	HGNC:12305													
TRPM2	gene	TRPM2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	ALS and Parkinson's disease						False	1	0;0;0	1.116	False		ENSG00000142185	ENSG00000142185	HGNC:12339													
TSC1	gene	TSC1	BabySeq Category A gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tuberous sclerosis 1, MIM#191100				20301399		False	1	50;0;50	1.116	True		ENSG00000165699	ENSG00000165699	HGNC:12362													
TSC2	gene	TSC2	BabySeq Category A gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tuberous sclerosis 2, MIM#613254				21309039;11112665;24053983;20301399		False	1	50;0;50	1.116	True		ENSG00000103197	ENSG00000103197	HGNC:12363													
TSEN54	gene	TSEN54	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 2A MIM#277470				20301773		False	1	0;0;100	1.116	True		ENSG00000182173	ENSG00000182173	HGNC:27561													
TSFM	gene	TSFM	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency						False	1	0;0;0	1.116	False		ENSG00000123297	ENSG00000123297	HGNC:12367													
TSPEAR	gene	TSPEAR	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Sensorineural deafness						False	1	0;0;0	1.116	False		ENSG00000175894	ENSG00000175894	HGNC:1268													
TSPYL1	gene	TSPYL1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Sudden infant death with dysgenesis of the testes syndrome						False	1	0;0;0	1.116	False		ENSG00000189241	ENSG00000189241	HGNC:12382													
TSR2	gene	TSR2	BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, MIM# 300946				24942156;11424144		False	1	0;0;100	1.116	True		ENSG00000158526	ENSG00000158526	HGNC:25455													
TTC21B	gene	TTC21B	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819;Nephronophthisis 12, MIM# 613820				25492405;33875766;18327258;21258341;33547761		False	1	0;0;100	1.116	True		ENSG00000123607	ENSG00000123607	HGNC:25660													
TTC37	gene	TTC37	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Trichohepatoenteric syndrome 1, MIM#222470				29527791;29334452		False	1	0;0;100	1.116	True		ENSG00000198677	ENSG00000198677	HGNC:23639													
TTC7A	gene	TTC7A	BabySeq Category A gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency, combined, with intestinal atresias, MIM#243150				30553809;34975848;33746097		False	1	0;50;50	1.116	True		ENSG00000068724	ENSG00000068724	HGNC:19750													
TTR	gene	TTR	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyloidosis, hereditary, transthyretin-related MIM#105210				20301373;3032328;29972753;29972757		False	1	0;0;100	1.116	True		ENSG00000118271	ENSG00000118271	HGNC:12405													
TUBA8	gene	TUBA8	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Polymicrogyria with optic nerve hypoplasia						False	1	0;0;0	1.116	False		ENSG00000183785	ENSG00000183785	HGNC:12410													
TUBB4B	gene	TUBB4B	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Leber congenital amaurosis with early-onset deafness	MIM#617879"				PMID: 29198720, 35240325		False	1	0;0;100	1.116	True		ENSG00000188229	ENSG00000188229	HGNC:20771													
TWIST1	gene	TWIST1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Craniosynostosis 1, MIM# 123100;Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400;Sweeny-Cox syndrome, MIM# 617746;Robinow-Sorauf syndrome, MIM# 180750				32487807;32909287;20301368		False	1	0;50;50	1.116	True		ENSG00000122691	ENSG00000122691	HGNC:12428													
TWNK	gene	TWNK	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245				16135556;19304794;17921179;27551684;12872260;31823625		False	1	0;0;100	1.116	True		ENSG00000107815	ENSG00000107815	HGNC:1160													
TYMP	gene	TYMP	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041				33825174;20301358;32980811;26264513;19371766		False	1	0;0;100	1.116	True		ENSG00000025708	ENSG00000025708	HGNC:3148													
TYR	gene	TYR	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Oculocutaneous albinism type 1 MIM## 203100, # 606952				17980020;33599182		False	1	0;50;50	1.116	True		ENSG00000077498	ENSG00000077498	HGNC:12442													
UBA1	gene	UBA1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Spinal muscular atrophy, X-linked infantile						False	1	0;0;0	1.116	False		ENSG00000130985	ENSG00000130985	HGNC:12469													
UBR1	gene	UBR1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Johanson-Blizzard syndrome MIM#243800				24599544		False	1	0;0;100	1.116	True		ENSG00000159459	ENSG00000159459	HGNC:16808													
UCP2	gene	UCP2	BabySeq Category C gene;BeginNGS;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperinsulinism, ORPHA:276556;Hyperinsulinism				28681398;27967291		False	1	0;0;100	1.116	True		ENSG00000175567	ENSG00000175567	HGNC:12518													
UGT1A4	gene	UGT1A4	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Crigler-Najjar syndrome						False	1	0;0;0	1.116	False		ENSG00000244474	ENSG00000244474	HGNC:12536													
UGT1A5	gene	UGT1A5	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	UDP glucuronosyltransferase deficiency						False	1	0;0;0	1.116	False		ENSG00000240224	ENSG00000240224	HGNC:12537													
UMOD	gene	UMOD	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tubulointerstitial kidney disease MIM#162000				20301530		False	1	0;0;100	1.116	True		ENSG00000169344	ENSG00000169344	HGNC:12559													
UQCRB	gene	UQCRB	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency						False	1	0;0;0	1.116	False		ENSG00000156467	ENSG00000156467	HGNC:12582													
UQCRQ	gene	UQCRQ	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency						False	1	0;0;0	1.116	False		ENSG00000164405	ENSG00000164405	HGNC:29594													
UROD	gene	UROD	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Porphyria, hepatoerythropoietic MIM#176100				24175354;17360334		False	1	33;33;33	1.116	True		ENSG00000126088	ENSG00000126088	HGNC:12591													
UTP4	gene	UTP4	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	North American Indian childhood cirrhosis						False	1	0;0;0	1.116	False		ENSG00000141076	ENSG00000141076	HGNC:1983													
VCAN	gene	VCAN	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Wagner syndrome MIM#143200				16043844;20301747		False	1	50;0;50	1.116	True		ENSG00000038427	ENSG00000038427	HGNC:2464													
VCP	gene	VCP	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MIM#167320;Charcot-Marie-Tooth disease, type 2Y, MIM# 616687				16247064;21145000		False	1	0;0;100	1.116	True		ENSG00000165280	ENSG00000165280	HGNC:12666													
VIPAS39	gene	VIPAS39	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, renal dysfunction, and cholestasis MIM#613404				35761207		False	1	0;50;50	1.116	True		ENSG00000151445	ENSG00000151445	HGNC:20347													
VLDLR	gene	VLDLR	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion MIM#224050						False	1	0;0;100	1.116	True		ENSG00000147852	ENSG00000147852	HGNC:12698													
VPS13A	gene	VPS13A	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Choreoacanthocytosis MIM#200150						False	1	0;0;100	1.116	True		ENSG00000197969	ENSG00000197969	HGNC:1908													
VPS13B	gene	VPS13B	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cohen syndrome MIM#216550						False	1	0;0;100	1.116	True		ENSG00000132549	ENSG00000132549	HGNC:2183													
VPS33B	gene	VPS33B	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, renal dysfunction, and cholestasis MIM#208085				15052268;15052268;18853461		False	1	0;0;100	1.116	True		ENSG00000184056	ENSG00000184056	HGNC:12712													
VPS53	gene	VPS53	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Progressive cerebello-cerebral atrophy						False	1	0;0;0	1.116	False		ENSG00000141252	ENSG00000141252	HGNC:25608													
VSX1	gene	VSX1	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Keratoconus						False	1	0;0;0	1.116	False		ENSG00000100987	ENSG00000100987	HGNC:12723													
WDR19	gene	WDR19	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis						False	1	0;0;0	1.116	False		ENSG00000157796	ENSG00000157796	HGNC:18340													
WDR35	gene	WDR35	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Cranioectodermal dysplasia						False	1	0;0;0	1.116	False		ENSG00000118965	ENSG00000118965	HGNC:29250													
WDR36	gene	WDR36	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Glaucoma						False	1	0;0;0	1.116	False		ENSG00000134987	ENSG00000134987	HGNC:30696													
WDR62	gene	WDR62	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317				35188728		False	1	0;0;100	1.116	True		ENSG00000075702	ENSG00000075702	HGNC:24502													
WFS1	gene	WFS1	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Wolfram syndrome MIM#222300				20301750;11317350;20738327;31337416		False	1	0;0;100	1.116	True		ENSG00000109501	ENSG00000109501	HGNC:12762													
WNT3	gene	WNT3	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Tetra-amelia, autosomal recessive						False	1	0;0;0	1.116	False		ENSG00000108379	ENSG00000108379	HGNC:12782													
WNT5A	gene	WNT5A	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Robinow syndrome						False	1	0;0;0	1.116	False		ENSG00000114251	ENSG00000114251	HGNC:12784													
WNT7A	gene	WNT7A	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Ulna and fibula absence of with severe limb deficiency						False	1	0;0;0	1.116	False		ENSG00000154764	ENSG00000154764	HGNC:12786													
WRAP53	gene	WRAP53	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita, autosomal recessive 3, MIM# 613988				32303682;21205863;29514627		False	1	0;0;100	1.116	True		ENSG00000141499	ENSG00000141499	HGNC:25522													
WRN	gene	WRN	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Werner syndrome MIM#277700				20301687		False	1	0;0;100	1.116	True		ENSG00000165392	ENSG00000165392	HGNC:12791													
YARS2	gene	YARS2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Myopathy, lactic acidosis, and sideroblastic anemia						False	1	0;0;0	1.116	False		ENSG00000139131	ENSG00000139131	HGNC:24249													
ZEB2	gene	ZEB2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mowat-Wilson syndrome MIM# 235730				20301585		False	1	0;0;100	1.116	True		ENSG00000169554	ENSG00000169554	HGNC:14881													
ZFPM2	gene	ZFPM2	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tetralogy of Fallot						False	1	0;0;0	1.116	False		ENSG00000169946	ENSG00000169946	HGNC:16700													
ZIC2	gene	ZIC2	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Holoprosencephaly MIM#603073				29442327		False	1	0;0;100	1.116	True		ENSG00000043355	ENSG00000043355	HGNC:12873													
ZIC3	gene	ZIC3	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	X linked heterotaxy and congenital heart defects MIM:306955				29442328;27406248		False	1	0;0;100	1.116	True		ENSG00000156925	ENSG00000156925	HGNC:12874													
ZMPSTE24	gene	ZMPSTE24	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Restrictive dermopathy 1, MIM# MIM:275210				28050601		False	1	0;50;50	1.116	True		ENSG00000084073	ENSG00000084073	HGNC:12877													
ZNF143	gene	ZNF143	Expert list;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Combined methylmalonic acidemia and homocystinuria, cblX like 1				PMID: 20301503, PMID: 27349184		False	1	0;0;100	1.116	True		ENSG00000166478	ENSG00000166478	HGNC:12928													
ZNF252P	gene	ZNF252P	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypothyroidism						False	1	0;0;0	1.116	False		ENSG00000196922	ENSG00000196922	HGNC:13046													
ZNF469	gene	ZNF469	BabySeq Category A gene;Expert Review Red	BabyScreen+ newborn screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Brittle cornea syndrome MIM#229200				31496642		False	1	0;0;100	1.116	True		ENSG00000225614	ENSG00000225614	HGNC:23216													
ZNF674	gene	ZNF674	BabySeq Category C gene;Expert Review Red	BabyScreen+ newborn screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation						False	1	0;0;0	1.116	False		ENSG00000251192	ENSG00000251192	HGNC:17625