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Date	Panel	Item	Activity
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06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.365	MOCS2	Zornitza Stark Marked gene: MOCS2 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.365	MOCS2	Zornitza Stark Gene: mocs2 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.365	MOCS2	Zornitza Stark Phenotypes for gene: MOCS2 were changed from Molybdenum cofactor deficiency to Molybdenum cofactor deficiency B, MIM#252160
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.364	MOCS2	Zornitza Stark Classified gene: MOCS2 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.364	MOCS2	Zornitza Stark Gene: mocs2 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.363	MOCS2	Zornitza Stark reviewed gene: MOCS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency B MIM#252160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.363	MOCS1	Zornitza Stark Marked gene: MOCS1 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.363	MOCS1	Zornitza Stark Gene: mocs1 has been classified as Green List (High Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.363	MOCS1	Zornitza Stark Publications for gene: MOCS1 were set to
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.362	MOCS1	Zornitza Stark reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency A, MIM# 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.362	MOCS1	Zornitza Stark Tag treatable tag was added to gene: MOCS1.
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.362	MLYCD	Zornitza Stark Tag treatable tag was added to gene: MLYCD.
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.362	MLYCD	Zornitza Stark Marked gene: MLYCD as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.362	MLYCD	Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.362	MLYCD	Zornitza Stark Phenotypes for gene: MLYCD were changed from Malonyl-CoA decarboxylase deficiency to Malonyl-CoA decarboxylase deficiency, MIM# 248360
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.361	MLYCD	Zornitza Stark reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malonyl-CoA decarboxylase deficiency, MIM# 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.361	ZAP70	Zornitza Stark Marked gene: ZAP70 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.361	ZAP70	Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.361	ZAP70	Zornitza Stark Phenotypes for gene: ZAP70 were changed from ZAP70-related severe combined immunodeficiency to Immunodeficiency MIM#176947
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.360	ZAP70	Zornitza Stark Publications for gene: ZAP70 were set to
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.359	ZAP70	Zornitza Stark Tag treatable tag was added to gene: ZAP70.
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.359	ZEB2	Zornitza Stark Marked gene: ZEB2 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.359	ZEB2	Zornitza Stark Gene: zeb2 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.359	ZEB2	Zornitza Stark Phenotypes for gene: ZEB2 were changed from Mowat-Wilson syndrome to Mowat-Wilson syndrome MIM# 235730
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.358	ZEB2	Zornitza Stark Publications for gene: ZEB2 were set to
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.357	ZEB2	Zornitza Stark Classified gene: ZEB2 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.357	ZEB2	Zornitza Stark Gene: zeb2 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.356	ZIC2	Zornitza Stark Marked gene: ZIC2 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.356	ZIC2	Zornitza Stark Gene: zic2 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.356	ZIC2	Zornitza Stark Phenotypes for gene: ZIC2 were changed from Holoprosencephaly-5 to Holoprosencephaly MIM#603073
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.355	ZIC2	Zornitza Stark Publications for gene: ZIC2 were set to
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.354	ZIC2	Zornitza Stark Classified gene: ZIC2 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.354	ZIC2	Zornitza Stark Gene: zic2 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.353	ZIC3	Zornitza Stark Marked gene: ZIC3 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.353	ZIC3	Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.353	ZIC3	Zornitza Stark Phenotypes for gene: ZIC3 were changed from Heterotaxy to X linked heterotaxy and congenital heart defects MIM:306955
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.352	ZIC3	Zornitza Stark Publications for gene: ZIC3 were set to
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.351	ZIC3	Zornitza Stark Classified gene: ZIC3 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.351	ZIC3	Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.350	ZMPSTE24	Zornitza Stark Marked gene: ZMPSTE24 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.350	ZMPSTE24	Zornitza Stark Gene: zmpste24 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.350	ZMPSTE24	Zornitza Stark Phenotypes for gene: ZMPSTE24 were changed from Restrictive dermopathy to Restrictive dermopathy 1, MIM# MIM:275210
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.349	ZMPSTE24	Zornitza Stark Publications for gene: ZMPSTE24 were set to
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.348	ZMPSTE24	Zornitza Stark Classified gene: ZMPSTE24 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.348	ZMPSTE24	Zornitza Stark Gene: zmpste24 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.347	ZMPSTE24	Zornitza Stark reviewed gene: ZMPSTE24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Restrictive dermopathy 1, MIM# MIM:275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.347	ZNF469	Zornitza Stark Marked gene: ZNF469 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.347	ZNF469	Zornitza Stark Gene: znf469 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.347	ZNF469	Zornitza Stark Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome to Brittle cornea syndrome MIM#229200
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.346	ZNF469	Zornitza Stark Publications for gene: ZNF469 were set to
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.345	ZNF469	Zornitza Stark Classified gene: ZNF469 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.345	ZNF469	Zornitza Stark Gene: znf469 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.344	MLC1	Zornitza Stark Marked gene: MLC1 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.344	MLC1	Zornitza Stark Gene: mlc1 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.344	MLC1	Zornitza Stark Phenotypes for gene: MLC1 were changed from Megalencephalic leukoencephalopathy to Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.343	MLC1	Zornitza Stark Classified gene: MLC1 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.343	MLC1	Zornitza Stark Gene: mlc1 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.342	MLC1	Zornitza Stark reviewed gene: MLC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.342	MKS1	Zornitza Stark Marked gene: MKS1 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.342	MKS1	Zornitza Stark Gene: mks1 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.342	MKS1	Zornitza Stark Phenotypes for gene: MKS1 were changed from Meckel syndrome to Joubert syndrome 28, MIM# 617121 MONDO:0014928; Meckel syndrome 1, MIM# 249000 MONDO:0009571; Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.341	MKS1	Zornitza Stark Classified gene: MKS1 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.341	MKS1	Zornitza Stark Gene: mks1 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.340	MKS1	Zornitza Stark reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 28, MIM# 617121 MONDO:0014928, Meckel syndrome 1, MIM# 249000 MONDO:0009571, Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.340	MKKS	Zornitza Stark Marked gene: MKKS as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.340	MKKS	Zornitza Stark Gene: mkks has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.340	MKKS	Zornitza Stark Phenotypes for gene: MKKS were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.339	MKKS	Zornitza Stark Classified gene: MKKS as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.339	MKKS	Zornitza Stark Gene: mkks has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.338	MKKS	Zornitza Stark reviewed gene: MKKS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 6 (MIM#605231), McKusick-Kaufman syndrome, MIM# 236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.338	LAMB3	Zornitza Stark Marked gene: LAMB3 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.338	LAMB3	Zornitza Stark Gene: lamb3 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.338	LAMB3	Zornitza Stark Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.337	LAMB3	Zornitza Stark Mode of inheritance for gene: LAMB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.336	LAMB3	Zornitza Stark Classified gene: LAMB3 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.336	LAMB3	Zornitza Stark Gene: lamb3 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.335	LAMA2	Zornitza Stark Marked gene: LAMA2 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.335	LAMA2	Zornitza Stark Gene: lama2 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.335	LAMA2	Zornitza Stark Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital merosin-deficient to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.334	LAMA2	Zornitza Stark Classified gene: LAMA2 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.334	LAMA2	Zornitza Stark Gene: lama2 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.333	MITF	Zornitza Stark Marked gene: MITF as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.333	MITF	Zornitza Stark Gene: mitf has been classified as Green List (High Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.333	MITF	Zornitza Stark Phenotypes for gene: MITF were changed from Waardenburg syndrome to Waardenburg syndrome, type 2A, MIM# 193510; Deafness
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.332	MITF	Zornitza Stark Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.331	MITF	Zornitza Stark reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 2A, MIM# 193510, Deafness; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.331	MGP	Zornitza Stark Marked gene: MGP as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.331	MGP	Zornitza Stark Gene: mgp has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.331	MGP	Zornitza Stark Phenotypes for gene: MGP were changed from Keutel syndrome to Keutel syndrome, MIM #245150
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.330	MGP	Zornitza Stark Classified gene: MGP as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.330	MGP	Zornitza Stark Gene: mgp has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.329	MGP	Zornitza Stark reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome, MIM #245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.329	MGAT2	Zornitza Stark Marked gene: MGAT2 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.329	MGAT2	Zornitza Stark Gene: mgat2 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.329	MGAT2	Zornitza Stark Classified gene: MGAT2 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.329	MGAT2	Zornitza Stark Gene: mgat2 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.328	MGAT2	Zornitza Stark reviewed gene: MGAT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.328	MFSD8	Zornitza Stark Marked gene: MFSD8 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.328	MFSD8	Zornitza Stark Gene: mfsd8 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.328	MFSD8	Zornitza Stark Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.327	MFSD8	Zornitza Stark Publications for gene: MFSD8 were set to
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.326	MFSD8	Zornitza Stark Classified gene: MFSD8 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.326	MFSD8	Zornitza Stark Gene: mfsd8 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.325	MFSD8	Zornitza Stark reviewed gene: MFSD8: Rating: RED; Mode of pathogenicity: None; Publications: 31597037; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.325	MFN2	Zornitza Stark Marked gene: MFN2 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.325	MFN2	Zornitza Stark Gene: mfn2 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.325	MFN2	Zornitza Stark Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth disease to 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
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.324	MFN2	Zornitza Stark Mode of inheritance for gene: MFN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.323	MFN2	Zornitza Stark Classified gene: MFN2 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.323	MFN2	Zornitza Stark Gene: mfn2 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.322	MFN2	Zornitza Stark reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 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; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.322	MEN1	Zornitza Stark Marked gene: MEN1 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.322	MEN1	Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.322	MEN1	Zornitza Stark Phenotypes for gene: MEN1 were changed from Multiple endocrine neoplasia I to Multiple endocrine neoplasia 1, MIM#131100
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.321	MEN1	Zornitza Stark Tag for review tag was added to gene: MEN1.
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.321	MEN1	Zornitza Stark reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1, MIM#131100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.321	MEGF10	Zornitza Stark Marked gene: MEGF10 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.321	MEGF10	Zornitza Stark Gene: megf10 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.321	MEGF10	Zornitza Stark Phenotypes for gene: MEGF10 were changed from Myopathy, areflexia, respiratory distress, and dysphagia, early-onset to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.320	MEGF10	Zornitza Stark Classified gene: MEGF10 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.320	MEGF10	Zornitza Stark Gene: megf10 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.319	MEGF10	Zornitza Stark reviewed gene: MEGF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.319	MEFV	Zornitza Stark Marked gene: MEFV as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.319	MEFV	Zornitza Stark Gene: mefv has been classified as Green List (High Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.319	MEFV	Zornitza Stark Phenotypes for gene: MEFV were changed from Mediterranean fever, familial to Familial Mediterranean fever MIM# 249100
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.318	MEFV	Zornitza Stark Tag for review tag was added to gene: MEFV.
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.318	MEFV	Zornitza Stark reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Mediterranean fever MIM# 249100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.318	MED25	Zornitza Stark Marked gene: MED25 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.318	MED25	Zornitza Stark Gene: med25 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.318	MED25	Zornitza Stark Classified gene: MED25 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.318	MED25	Zornitza Stark Gene: med25 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.317	MED25	Zornitza Stark reviewed gene: MED25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.317	MED12	Zornitza Stark Marked gene: MED12 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.317	MED12	Zornitza Stark Gene: med12 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.317	MED12	Zornitza Stark Phenotypes for gene: MED12 were changed from Intellectual disability to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, MIM# 301068
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.316	MED12	Zornitza Stark Classified gene: MED12 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.316	MED12	Zornitza Stark Gene: med12 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.315	MED12	Zornitza Stark reviewed gene: MED12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ohdo syndrome, X-linked MIM#300895, Lujan-Fryns syndrome MIM#309520, Opitz-Kaveggia syndrome MIM#305450, Hardikar syndrome, MIM# 301068; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.315	MECP2	Zornitza Stark Marked gene: MECP2 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.315	MECP2	Zornitza Stark Gene: mecp2 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.315	MECP2	Zornitza Stark Phenotypes for gene: MECP2 were changed from Rett syndrome to MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.314	MECP2	Zornitza Stark Mode of inheritance for gene: MECP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.313	MECP2	Zornitza Stark Classified gene: MECP2 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.313	MECP2	Zornitza Stark Gene: mecp2 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.312	MECP2	Zornitza Stark reviewed gene: MECP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.312	MCPH1	Zornitza Stark Marked gene: MCPH1 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.312	MCPH1	Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.312	MCPH1	Zornitza Stark Phenotypes for gene: MCPH1 were changed from Microcephaly 1, primary, autosomal recessive to Microcephaly 1, primary, autosomal recessive, MIM# 251200
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.311	MCPH1	Zornitza Stark reviewed gene: MCPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.311	MCPH1	Zornitza Stark Classified gene: MCPH1 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.311	MCPH1	Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.310	COQ8B	Zornitza Stark Marked gene: COQ8B as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.310	COQ8B	Zornitza Stark Gene: coq8b has been classified as Green List (High Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.310	COQ8B	Zornitza Stark Tag for review tag was added to gene: COQ8B.
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.310	COQ8B	Zornitza Stark reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 9 MIM#615573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.310	COQ8A	Zornitza Stark Marked gene: COQ8A as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.310	COQ8A	Zornitza Stark Gene: coq8a has been classified as Green List (High Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.310	COQ8A	Zornitza Stark Publications for gene: COQ8A were set to
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.309	COQ8A	Zornitza Stark Tag treatable tag was added to gene: COQ8A.
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.309	COQ8A	Zornitza Stark reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32337771; Phenotypes: Coenzyme Q10 deficiency, primary, 4 MIM#612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.309	COQ7	Zornitza Stark Marked gene: COQ7 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.309	COQ7	Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.309	COQ7	Zornitza Stark Tag for review tag was added to gene: COQ7.
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.309	COQ7	Zornitza Stark reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 8 MIM#616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.309	COQ4	Zornitza Stark Marked gene: COQ4 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.309	COQ4	Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.309	COQ4	Zornitza Stark Tag treatable tag was added to gene: COQ4.
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.309	COQ4	Zornitza Stark reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.309	COLQ	Zornitza Stark Marked gene: COLQ as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.309	COLQ	Zornitza Stark Gene: colq has been classified as Green List (High Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.309	COLQ	Zornitza Stark Tag treatable tag was added to gene: COLQ. Tag clinical trial tag was added to gene: COLQ.
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.309	COLQ	Zornitza Stark reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.309	CLN8	Zornitza Stark Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.308	CLN8	Zornitza Stark edited their review of gene: CLN8: Changed phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.308	CLN8	Zornitza Stark Marked gene: CLN8 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.308	CLN8	Zornitza Stark Gene: cln8 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.308	CLN8	Zornitza Stark Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.307	CLN8	Zornitza Stark Publications for gene: CLN8 were set to
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.306	CLN8	Zornitza Stark Classified gene: CLN8 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.306	CLN8	Zornitza Stark Gene: cln8 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.305	CLN8	Zornitza Stark reviewed gene: CLN8: Rating: RED; Mode of pathogenicity: None; Publications: 33242182; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.305	CLN6	Zornitza Stark Marked gene: CLN6 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.305	CLN6	Zornitza Stark Gene: cln6 has been classified as Amber List (Moderate Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.305	CLN6	Zornitza Stark Phenotypes for gene: CLN6 were changed from Ceroid lipofuscinosis, neuronal, 6 to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.304	CLN6	Zornitza Stark Publications for gene: CLN6 were set to
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.303	CLN6	Zornitza Stark Classified gene: CLN6 as Amber List (moderate evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.303	CLN6	Zornitza Stark Gene: cln6 has been classified as Amber List (Moderate Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.302	CLN6	Zornitza Stark Tag for review tag was added to gene: CLN6. Tag clinical trial tag was added to gene: CLN6.
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.302	CLN6	Zornitza Stark reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: None; Publications: 33242182; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.302	CLN5	Zornitza Stark Marked gene: CLN5 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.302	CLN5	Zornitza Stark Gene: cln5 has been classified as Amber List (Moderate Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.302	CLN5	Zornitza Stark Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5 to Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; MONDO:0009745
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.301	CLN5	Zornitza Stark Classified gene: CLN5 as Amber List (moderate evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.301	CLN5	Zornitza Stark Gene: cln5 has been classified as Amber List (Moderate Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.300	CLN5	Zornitza Stark Tag for review tag was added to gene: CLN5. Tag clinical trial tag was added to gene: CLN5.
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.300	CLN5	Zornitza Stark reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731, MONDO:0009745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.300	CLN3	Zornitza Stark Marked gene: CLN3 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.300	CLN3	Zornitza Stark Gene: cln3 has been classified as Amber List (Moderate Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.300	CLN3	Zornitza Stark Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.299	CLN3	Zornitza Stark Classified gene: CLN3 as Amber List (moderate evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.299	CLN3	Zornitza Stark Gene: cln3 has been classified as Amber List (Moderate Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.298	CLN3	Zornitza Stark Tag for review tag was added to gene: CLN3. Tag clinical trial tag was added to gene: CLN3.
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.298	CLN3	Zornitza Stark reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.298	CHRNG	Zornitza Stark Marked gene: CHRNG as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.298	CHRNG	Zornitza Stark Gene: chrng has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.298	CHRNG	Zornitza Stark Phenotypes for gene: CHRNG were changed from Pterygium syndrome to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.297	CHRNG	Zornitza Stark Classified gene: CHRNG as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.297	CHRNG	Zornitza Stark Gene: chrng has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.296	CHRNG	Zornitza Stark reviewed gene: CHRNG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Escobar syndrome, MIM# 265000, Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.296	CHRNE	Zornitza Stark Marked gene: CHRNE as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.296	CHRNE	Zornitza Stark Gene: chrne has been classified as Green List (High Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.296	CHRNE	Zornitza Stark Phenotypes for gene: CHRNE were changed from Congenital myasthenic syndrome, MIM#605809 to Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.295	CHRNE	Zornitza Stark changed review comment from: Well established association with multiple subtypes of congenital myasthenia, both mono- and bi-allelic variants reported. Severe disorder, congenital.; to: Well established association with multiple subtypes of congenital myasthenia, both mono- and bi-allelic variants reported. Severe disorder, congenital. Treatment available.
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.295	CHRNE	Zornitza Stark reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 4B, fast-channel, 616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931, Myasthenic syndrome, slow-channel congenital, 601462, Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.295	CHRND	Zornitza Stark changed review comment from: Well established gene-disease association. Severe disorder, perinatal onset. Treatment: 3,4-diaminopyridine, acetylcholine-esterase inhibitors; to: Well established gene-disease association for bi-allelic variants. Single individual only with mono-allelic variant reported. Severe disorder, perinatal onset. Treatment: 3,4-diaminopyridine, acetylcholine-esterase inhibitors
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.295	CHRND	Zornitza Stark Marked gene: CHRND as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.295	CHRND	Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.295	CHRND	Zornitza Stark Phenotypes for gene: CHRND were changed from Congenital myasthenic syndrome, MIM#616321 to Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323; Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.294	CHRND	Zornitza Stark Publications for gene: CHRND were set to
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.293	CHRND	Zornitza Stark reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 30808424; Phenotypes: Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322, Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323, Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.293	SLC5A2	Zornitza Stark Marked gene: SLC5A2 as ready
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.293	SLC5A2	Zornitza Stark Gene: slc5a2 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.293	SLC5A2	Zornitza Stark Phenotypes for gene: SLC5A2 were changed from Renal glucosuria to Renal glucosuria, MIM# 233100
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.292	SLC5A2	Zornitza Stark Mode of inheritance for gene: SLC5A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.291	SLC5A2	Zornitza Stark Classified gene: SLC5A2 as Red List (low evidence)
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.291	SLC5A2	Zornitza Stark Gene: slc5a2 has been classified as Red List (Low Evidence).
06 Oct 2022	Genomic newborn screening: BabyScreen+ v0.290	SLC5A2	Zornitza Stark reviewed gene: SLC5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal glucosuria, MIM# 233100; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.290	CHRNA1	Zornitza Stark Marked gene: CHRNA1 as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.290	CHRNA1	Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.290	CHRNA1	Zornitza Stark Phenotypes for gene: CHRNA1 were changed from Congenital myasthenic syndrome, MIM#601462 to Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.289	CHRNA1	Zornitza Stark Publications for gene: CHRNA1 were set to
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	CHRNA1	Zornitza Stark edited their review of gene: CHRNA1: Changed publications: 30808424
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	CHRNA1	Zornitza Stark Tag treatable tag was added to gene: CHRNA1.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	CHRNA1	Zornitza Stark reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668, Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462, Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	CHAT	Zornitza Stark Marked gene: CHAT as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	CHAT	Zornitza Stark Gene: chat has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	CHAT	Zornitza Stark Tag treatable tag was added to gene: CHAT.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	CHAT	Zornitza Stark reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	CA5A	Zornitza Stark Marked gene: CA5A as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	CA5A	Zornitza Stark Gene: ca5a has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	CA5A	Zornitza Stark Tag treatable tag was added to gene: CA5A.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	CA5A	Zornitza Stark reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	BTK	Zornitza Stark changed review comment from: Well established gene-disease association. Childhood onset. Treatable with IVIG.; to: Well established gene-disease association with isolated agammaglobulinaemia. At least 3 families reported with associated GH deficiency, which is also treatable. Childhood onset. Treatable with IVIG.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	BTK	Zornitza Stark edited their review of gene: BTK: Changed phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755, Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	BTK	Zornitza Stark Marked gene: BTK as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	BTK	Zornitza Stark Gene: btk has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	BTK	Zornitza Stark Tag treatable tag was added to gene: BTK.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	BTK	Zornitza Stark commented on gene: BTK: Well established gene-disease association. Childhood onset. Treatable with IVIG.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	BTK	Zornitza Stark reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	BCS1L	Zornitza Stark Marked gene: BCS1L as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	BCS1L	Zornitza Stark Gene: bcs1l has been classified as Red List (Low Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.288	BCS1L	Zornitza Stark Phenotypes for gene: BCS1L were changed from Complex 3 deficiency to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.287	BCS1L	Zornitza Stark Classified gene: BCS1L as Red List (low evidence)
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.287	BCS1L	Zornitza Stark Gene: bcs1l has been classified as Red List (Low Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.286	BCS1L	Zornitza Stark reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bjornstad syndrome, MIM# 262000, Leigh syndrome, MIM# 256000, BCS1L-related mitochondrial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.286	BCKDK	Zornitza Stark Marked gene: BCKDK as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.286	BCKDK	Zornitza Stark Gene: bckdk has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.286	BCKDK	Zornitza Stark Tag treatable tag was added to gene: BCKDK.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.286	BCKDK	Zornitza Stark commented on gene: BCKDK: Confirmatory non-genetic testing: serum amino acids, urine organic acids
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.286	BCKDK	Zornitza Stark reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.286	BCHE	Zornitza Stark Tag for review tag was added to gene: BCHE.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.286	BCHE	Zornitza Stark reviewed gene: BCHE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Butyrylcholinesterase deficiency, MIM# 617936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.286	AUH	Zornitza Stark Marked gene: AUH as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.286	AUH	Zornitza Stark Gene: auh has been classified as Red List (Low Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.286	AUH	Zornitza Stark Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I to 3-methylglutaconic aciduria, type I , MIM#250950
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.285	AUH	Zornitza Stark Classified gene: AUH as Red List (low evidence)
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.285	AUH	Zornitza Stark Gene: auh has been classified as Red List (Low Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.284	AUH	Zornitza Stark reviewed gene: AUH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.284	MCOLN1	Zornitza Stark Marked gene: MCOLN1 as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.284	MCOLN1	Zornitza Stark Gene: mcoln1 has been classified as Red List (Low Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.284	MCOLN1	Zornitza Stark Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV to Mucolipidosis IV, MIM# 252650
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.283	MCOLN1	Zornitza Stark Classified gene: MCOLN1 as Red List (low evidence)
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.283	MCOLN1	Zornitza Stark Gene: mcoln1 has been classified as Red List (Low Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.282	ATP7B	Zornitza Stark Marked gene: ATP7B as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.282	ATP7B	Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.282	ATP7B	Zornitza Stark Phenotypes for gene: ATP7B were changed from Wilson disease to Wilson disease MIM#277900
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.281	ATP7B	Zornitza Stark Tag for review tag was added to gene: ATP7B.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.281	ATP7B	Zornitza Stark reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease MIM#277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.281	ASL	Zornitza Stark Tag treatable tag was added to gene: ASL.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.281	ASL	Zornitza Stark Marked gene: ASL as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.281	ASL	Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.281	ASL	Zornitza Stark reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininosuccinic aciduria MIM#207900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.281	ARSB	Zornitza Stark Marked gene: ARSB as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.281	ARSB	Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.281	ARSB	Zornitza Stark Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) to Mucopolysaccharidosis VI (MPS6, MIM# 253200
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.280	ARSB	Zornitza Stark Publications for gene: ARSB were set to
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.279	ARSB	Zornitza Stark Tag treatable tag was added to gene: ARSB. Tag clinical trial tag was added to gene: ARSB.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.279	ARSB	Zornitza Stark reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31142378; Phenotypes: Mucopolysaccharidosis VI (MPS6, MIM# 253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.279	ARG1	Zornitza Stark Marked gene: ARG1 as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.279	ARG1	Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.279	ARG1	Zornitza Stark Tag treatable tag was added to gene: ARG1.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.279	ARG1	Zornitza Stark reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.279	AHCY	Zornitza Stark Marked gene: AHCY as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.279	AHCY	Zornitza Stark Gene: ahcy has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.279	AHCY	Zornitza Stark Mode of inheritance for gene: AHCY was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.278	AHCY	Zornitza Stark Tag treatable tag was added to gene: AHCY.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.278	AHCY	Zornitza Stark reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.278	AGL	Zornitza Stark Marked gene: AGL as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.278	AGL	Zornitza Stark Gene: agl has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.278	AGL	Zornitza Stark Publications for gene: AGL were set to
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.277	AGL	Zornitza Stark edited their review of gene: AGL: Changed publications: 20631546, 27106217
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.277	AGL	Zornitza Stark reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20631546; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM# 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.277	SMN1	Zornitza Stark Marked gene: SMN1 as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.277	SMN1	Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.277	SMN1	Zornitza Stark Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy type 1, 253300; Spinal muscular atrophy type 2, 253550; Spinal muscular atrophy type 3, 253400 to Spinal muscular atrophy type 1, MIM#253300
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	SMN1	Zornitza Stark Tag for review tag was added to gene: SMN1. Tag treatable tag was added to gene: SMN1. Tag clinical trial tag was added to gene: SMN1.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	SMN1	Zornitza Stark reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy-1, MIM# 253300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	ACADVL	Zornitza Stark Tag treatable tag was added to gene: ACADVL.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	ACADVL	Zornitza Stark reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31372341, 32885845; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	GALE	Zornitza Stark Marked gene: GALE as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	GALE	Zornitza Stark Gene: gale has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	GALE	Zornitza Stark Tag treatable tag was added to gene: GALE.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	GALE	Zornitza Stark reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactose epimerase deficiency MIM#230350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	GALK1	Zornitza Stark Marked gene: GALK1 as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	GALK1	Zornitza Stark Gene: galk1 has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	GALK1	Zornitza Stark Tag treatable tag was added to gene: GALK1.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	GALK1	Zornitza Stark reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	GALT	Zornitza Stark Marked gene: GALT as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	GALT	Zornitza Stark Gene: galt has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	GALT	Zornitza Stark Tag treatable tag was added to gene: GALT.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	GALT	Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia, MIM# 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	TAT	Zornitza Stark Marked gene: TAT as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	TAT	Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	TAT	Zornitza Stark Tag treatable tag was added to gene: TAT.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	TAT	Zornitza Stark reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinaemia, type II, MIM# 276600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	PCCB	Zornitza Stark Marked gene: PCCB as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	PCCB	Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.276	PCCB	Zornitza Stark Phenotypes for gene: PCCB were changed from Propionicacidemia to Propionicacidaemia, MIM#606054
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PCCB	Zornitza Stark Tag treatable tag was added to gene: PCCB.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PCCB	Zornitza Stark reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Propionicacidaemia, MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PCCA	Zornitza Stark Marked gene: PCCA as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PCCA	Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PCCA	Zornitza Stark Tag treatable tag was added to gene: PCCA.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PCCA	Zornitza Stark reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Propionic acidaemia, MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PCBD1	Zornitza Stark Marked gene: PCBD1 as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PCBD1	Zornitza Stark Gene: pcbd1 has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PCBD1	Zornitza Stark Tag for review tag was added to gene: PCBD1.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PCBD1	Zornitza Stark reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, D , MIM#264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	QDPR	Zornitza Stark Marked gene: QDPR as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	QDPR	Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	QDPR	Zornitza Stark Tag treatable tag was added to gene: QDPR.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	QDPR	Zornitza Stark reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PTS	Zornitza Stark Marked gene: PTS as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PTS	Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PTS	Zornitza Stark Tag treatable tag was added to gene: PTS.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PTS	Zornitza Stark reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PAH	Zornitza Stark Marked gene: PAH as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PAH	Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PAH	Zornitza Stark Tag treatable tag was added to gene: PAH.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	PAH	Zornitza Stark reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phenylketonuria MIM#261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	ETFB	Zornitza Stark Marked gene: ETFB as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	ETFB	Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	ETFB	Zornitza Stark Tag for review tag was added to gene: ETFB.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	ETFB	Zornitza Stark reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIB, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	ETFA	Zornitza Stark Marked gene: ETFA as ready
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	ETFA	Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.275	ETFA	Zornitza Stark Publications for gene: ETFA were set to
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	ETFA	Zornitza Stark Tag treatable tag was added to gene: ETFA.
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	ETFA	Zornitza Stark changed review comment from: Well established gene-disease association. Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. The heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress. Treatment: riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates, D,L-3-hydroxybutyrate Non-genetic confirmatory tests: plasma acylcarnitine profile, urine organic acid analysis; to: Well established gene-disease association. Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. The heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress. Treatment: riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates, D,L-3-hydroxybutyrate (PMID 31904027) Non-genetic confirmatory tests: plasma acylcarnitine profile, urine organic acid analysis
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	ETFA	Zornitza Stark edited their review of gene: ETFA: Changed publications: 31904027
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	ETFA	Zornitza Stark reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NTRK1	David Amor reviewed gene: NTRK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NSD1	David Amor reviewed gene: NSD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sotos syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NR5A1	David Amor reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenocortical insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NR3C2	David Amor reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: NR3C2 associated pseudohypoaldosteronism, type I; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NR0B1	David Amor reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital adrenal hypoplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NPHS1	David Amor reviewed gene: NPHS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NPHP4	David Amor reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NPHP3	David Amor reviewed gene: NPHP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NPHP1	David Amor reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 4, Nephronophthisis 1, juvenile, Senior-Loken syndrome-1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NPC2	David Amor reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568; Phenotypes: Niemann-pick disease, type C2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NPC1	David Amor reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568; Phenotypes: Niemann-Pick disease, type C, NPC1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NOTCH3	David Amor reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (CADASIL); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NOTCH2	David Amor reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hajdu-Cheney syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NOG	David Amor reviewed gene: NOG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type B2, Multiple synostoses syndrome 1, Stapes ankylosis with broad thumbs and toes, Symphalangism, proximal, 1A, Tarsal-carpal coalition syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NNT	David Amor reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26548497; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NKX2-1	David Amor reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, NKX2-1-Related Disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NIPBL	David Amor reviewed gene: NIPBL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NIPAL4	David Amor reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31532840; Phenotypes: Ichthyosis, congenital, autosomal recessive 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NHLRC1	David Amor reviewed gene: NHLRC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NHEJ1	David Amor reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NGLY1	David Amor reviewed gene: NGLY1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation 1 (NGLY1-Related Congenital Disorder of Deglycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NF2	David Amor reviewed gene: NF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis type 2 (NF2); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NF1	David Amor reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31010905; Phenotypes: Neurofibromatosis type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NEUROG3	David Amor reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36149814; Phenotypes: NEUROG3 associated syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NEU1	David Amor reviewed gene: NEU1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NEK8	David Amor reviewed gene: NEK8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NEK1	David Amor reviewed gene: NEK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NEFL	David Amor reviewed gene: NEFL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate G, Charcot-Marie-Tooth disease, type 1F, Charcot-Marie-Tooth disease, type 2E; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NEB	David Amor reviewed gene: NEB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 2, autosomal recessive, Arthrogryposis multiplex congenita 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NDP	David Amor reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NCF2	David Amor reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27178966; Phenotypes: NCF2 associated chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NCF1	David Amor reviewed gene: NCF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27178966; Phenotypes: NCF1 associated chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NBN	David Amor reviewed gene: NBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nijmegen breakage syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NAGS	David Amor reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylglutamate synthase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NAGLU	David Amor reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	NAGA	David Amor reviewed gene: NAGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kanzaki disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MYO9A	David Amor reviewed gene: MYO9A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MYO7A	David Amor reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MYO6	David Amor reviewed gene: MYO6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 22, Deafness, autosomal recessive 37; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MYO3A	David Amor reviewed gene: MYO3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 30; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MYO15A	David Amor reviewed gene: MYO15A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MYH9	David Amor reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MYH7	David Amor reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Various myopathies and cardiomyopathies; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MYH3	David Amor reviewed gene: MYH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon) (AD), Arthrogryposis, distal, type 2B3 (Sheldon-Hall) (AD), Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (AR); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MYH2	David Amor reviewed gene: MYH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Proximal myopathy and ophthalmoplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MYH14	David Amor reviewed gene: MYH14: Rating: ; Mode of pathogenicity: None; Publications: PMID: 34681017; Phenotypes: Deafness, autosomal dominant 4A; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MYCN	David Amor reviewed gene: MYCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Feingold syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MYBPC1	David Amor reviewed gene: MYBPC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lethal congenital contracture syndrome 4 (AR), Arthrogryposis, distal, type 1B; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MVK	David Amor reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32066461; Phenotypes: Hyper-IgD syndrome / mevalonate kinase deficiciency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	XPA	Lilian Rudd reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group A MIM#278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	XPC	Lilian Rudd edited their review of gene: XPC: Changed publications: PMID: 26255934
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	XPC	Lilian Rudd reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22044607, PMID: 32918226; Phenotypes: Xeroderma pigmentosum, group C MIM#278720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MUTYH	David Amor reviewed gene: MUTYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MUTYH Polyposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MYSM1	David Amor reviewed gene: MYSM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bone marrow failure syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MUSK	David Amor reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myasthenic syndrome-9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MTTP	David Amor reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Abetalipoproteinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MTRR	David Amor reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25526710; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MSX2	David Amor reviewed gene: MSX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis, parietal foramina; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MRAP	David Amor reviewed gene: MRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30817990; Phenotypes: Glucocorticoid deficiency 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MTM1	David Amor edited their review of gene: MTM1: Changed phenotypes: X-linked myotubular myopathy
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MTR	David Amor reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25526710; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MTM1	David Amor reviewed gene: MTM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MPZ	David Amor reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CMT1B (AD), Dejerine-Sottas disease (AR); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MPV17	David Amor reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MPL	David Amor reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32703794; Phenotypes: Congenital amegakaryocytic thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MPI	David Amor reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32266963, 19101627; Phenotypes: Congenital disorder of glycosylation 1b; Mode of inheritance: None
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MPDU1	David Amor reviewed gene: MPDU1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type If; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MOCS2	David Amor reviewed gene: MOCS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: molybdenum cofactor deficiency B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MOCS1	David Amor reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20385644, PMID: 26343839; Phenotypes: molybdenum cofactor deficiency A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	MLYCD	David Amor reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malonyl-CoA decarboxylase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	ZAP70	Lilian Rudd reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301777; Phenotypes: Immunodeficiency MIM#176947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	ZEB2	Lilian Rudd reviewed gene: ZEB2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301585; Phenotypes: Mowat-Wilson syndrome MIM# 235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	ZIC2	Lilian Rudd reviewed gene: ZIC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29442327; Phenotypes: holoprosencephaly MIM#603073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	ZIC3	Lilian Rudd reviewed gene: ZIC3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29442328, PMID: 27406248; Phenotypes: X linked heterotaxy and congenital heart defects MIM:306955; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
03 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	ETFDH	Zornitza Stark Marked gene: ETFDH as ready
03 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	ETFDH	Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
03 Oct 2022	Genomic newborn screening: BabyScreen+ v0.274	ETFDH	Zornitza Stark Phenotypes for gene: ETFDH were changed from Glutaric acidemia IIC, MIM#231680 to Glutaric acidemia IIC, MIM#231680
03 Oct 2022	Genomic newborn screening: BabyScreen+ v0.273	ETFDH	Zornitza Stark Publications for gene: ETFDH were set to
03 Oct 2022	Genomic newborn screening: BabyScreen+ v0.272	ETFDH	Zornitza Stark Tag treatable tag was added to gene: ETFDH.
03 Oct 2022	Genomic newborn screening: BabyScreen+ v0.272	ETFDH	Zornitza Stark reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904027; Phenotypes: Glutaric acidemia IIC, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
03 Oct 2022	Genomic newborn screening: BabyScreen+ v0.272	HADHB	Zornitza Stark Marked gene: HADHB as ready
03 Oct 2022	Genomic newborn screening: BabyScreen+ v0.272	HADHB	Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
03 Oct 2022	Genomic newborn screening: BabyScreen+ v0.272	HADHB	Zornitza Stark Tag treatable tag was added to gene: HADHB.
03 Oct 2022	Genomic newborn screening: BabyScreen+ v0.272	HADHB	Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trifunctional protein deficiency, MIM# 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.272	HADHA	Zornitza Stark Marked gene: HADHA as ready
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.272	HADHA	Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.272	HADHA	Zornitza Stark Publications for gene: HADHA were set to
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.271	HADHA	Zornitza Stark changed review comment from: Well established gene-disease association. Clinical presentation is characterised by early-onset cardiomyopathy, hypoglycaemia, neuropathy, and pigmentary retinopathy, and sudden death Treatment: IV glucose during acute episodes, avoid fasting, carnitine, restrict LCFA, bezafibrate, triheptanoin; to: Well established gene-disease association. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy. Treatment: IV glucose during acute episodes, avoid fasting, carnitine, restrict LCFA, bezafibrate, triheptanoin
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.271	HADHA	Zornitza Stark Tag treatable tag was added to gene: HADHA.
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.271	HADHA	Zornitza Stark reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30029694; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.271	MMAB	Zornitza Stark Tag treatable tag was added to gene: MMAB.
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.271	MMAB	Zornitza Stark reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.271	MMAA	Zornitza Stark Marked gene: MMAA as ready
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.271	MMAA	Zornitza Stark Gene: mmaa has been classified as Green List (High Evidence).
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.271	MMAA	Zornitza Stark Tag treatable tag was added to gene: MMAA.
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.271	MMAA	Zornitza Stark reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.271	MUT	Zornitza Stark Marked gene: MUT as ready
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.271	MUT	Zornitza Stark Gene: mut has been classified as Green List (High Evidence).
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.271	MUT	Zornitza Stark Phenotypes for gene: MUT were changed from Methylmalonic aciduria, mut(0) type, MIM# 251000; Methylmalonic aciduria, mut(0) type to Methylmalonic aciduria, mut(0) type, MIM# 251000
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.270	MUT	Zornitza Stark Tag treatable tag was added to gene: MUT.
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.270	MUT	Zornitza Stark reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.270	ACADM	Zornitza Stark Marked gene: ACADM as ready
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.270	ACADM	Zornitza Stark Gene: acadm has been classified as Green List (High Evidence).
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.270	ACADM	Zornitza Stark Tag treatable tag was added to gene: ACADM.
02 Oct 2022	Genomic newborn screening: BabyScreen+ v0.270	ACADM	Zornitza Stark reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Oct 2022	Genomic newborn screening: BabyScreen+ v0.270	ZMPSTE24	Lilian Rudd reviewed gene: ZMPSTE24: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28050601; Phenotypes: Restrictive dermopathy 1 MIM:275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Oct 2022	Genomic newborn screening: BabyScreen+ v0.270	ZNF469	Lilian Rudd changed review comment from: Well established gene-disease association. Severe, causes blindness in the majority in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture. Treatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success; to: Well established gene-disease association. Severe, causes blindness in the majority in early childhood but variable. Corneal thinning. Connective tissue disease spectrum, can have systemic features. Ocular rupture causes blindness. Treatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success
01 Oct 2022	Genomic newborn screening: BabyScreen+ v0.270	ZNF469	Lilian Rudd changed review comment from: Well established gene-disease association. Severe, can cause blindness in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture. Treatment: no, only lifestyle modification (rupture can occur from minor trauma) and protective eyewear.; to: Well established gene-disease association. Severe, causes blindness in the majority in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture. Treatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	ZNF469	Lilian Rudd reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31496642; Phenotypes: Brittle cornea syndrome 229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	MLC1	David Amor reviewed gene: MLC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: megalencephalic leukoencephalopathy with subcortical cysts-1 (MLC1); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	MKS1	David Amor reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	MKKS	David Amor reviewed gene: MKKS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: McKusick-Kaufman syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	LRP4	David Amor changed review comment from: Gene-disease association: strong but <1% of all CMS (very rare) Onset:infancy or childhood Treatment: Not clear that there is any treatment that helps, but early diagnosis may still be useful; to: Gene-disease association: strong but <1% of all CMS (very rare) Onset:infancy or childhood Treatment: Not clear that there is any treatment that helps, but early diagnosis may still be useful
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	LAMB3	David Amor edited their review of gene: LAMB3: Changed rating: RED
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	LAMB3	David Amor changed review comment from: Gene-disease association: well established Age of onset: congenital Treatment: non specific but early detection may be beneficial; to: Gene-disease association: well established Age of onset: congenital Treatment: non specific but early detection may be beneficial
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	LAMA2	David Amor edited their review of gene: LAMA2: Changed rating: RED
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	MITF	David Amor reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wardenburg syndrome type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	MGP	David Amor reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	MGAT2	David Amor reviewed gene: MGAT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CDG-IIa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	MFSD8	David Amor reviewed gene: MFSD8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neuronal ceroid lipofuscinosis-7 (CLN7); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	MFN2	David Amor reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth Neuropathy; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	MEN1	David Amor reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1 (MEN1); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	MEGF10	David Amor reviewed gene: MEGF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	MEFV	David Amor reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial mediteranean fever; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	MED25	David Amor reviewed gene: MED25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basel-Vanagaite-Smirin-Yosef Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	MED12	David Amor reviewed gene: MED12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: FG syndrome, intellectual disability, Lujan syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	MECP2	David Amor reviewed gene: MECP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
30 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	MCPH1	David Amor reviewed gene: MCPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal recessive microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	IVD	Zornitza Stark Tag treatable tag was added to gene: IVD.
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	IVD	Zornitza Stark reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Isovaleric acidaemia, MIM# 243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	BTD	Zornitza Stark changed review comment from: Well established gene-disease association. Variable severity and age of presentation, predominantly with cutaneous and neurologic abnormalities Treatment: biotin Non-genetic confirmatory testing: biotinidase enzyme activity in serum or plasma; to: Well established gene-disease association. Variable severity and age of presentation, predominantly with cutaneous and neurologic abnormalities. Phenotype can be difficult to predict from genotype, however note currently included in tNBS. Treatment: biotin Non-genetic confirmatory testing: biotinidase enzyme activity in serum or plasma
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	BTD	Zornitza Stark Marked gene: BTD as ready
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	BTD	Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	BTD	Zornitza Stark Tag treatable tag was added to gene: BTD.
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	BTD	Zornitza Stark reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Biotinidase deficiency, MIM 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	HLCS	Zornitza Stark Marked gene: HLCS as ready
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	HLCS	Zornitza Stark Gene: hlcs has been classified as Green List (High Evidence).
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	HLCS	Zornitza Stark Tag treatable tag was added to gene: HLCS.
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	HLCS	Zornitza Stark reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Holocarboxylase synthetase deficiency, MIM# 253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	GCDH	Zornitza Stark Marked gene: GCDH as ready
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	GCDH	Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	GCDH	Zornitza Stark Tag treatable tag was added to gene: GCDH.
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	GCDH	Zornitza Stark reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 33069577; Phenotypes: Glutaric aciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	CBS	Zornitza Stark Tag for review tag was added to gene: CBS.
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	CBS	Zornitza Stark changed review comment from: Well established gene-disease association. Multi-system disorder, onset in infancy. In general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature. Treatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219. Non-genetic confirmatory testing: plasma total homocysteine and plasma amino acids Paediatric actionable gene by ClinGen.; to: Well established gene-disease association. Multi-system disorder, onset in infancy. In general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature. Treatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219. Non-genetic confirmatory testing: plasma total homocysteine and plasma amino acids Paediatric actionable gene by ClinGen. Note excluded from reproductive carrier screening tests due to poor mappability, for review.
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	CBS	Zornitza Stark Marked gene: CBS as ready
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	CBS	Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.270	CBS	Zornitza Stark Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types to Homocystinuria (MIM# 236200)
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.269	CBS	Zornitza Stark Publications for gene: CBS were set to
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	CBS	Zornitza Stark Tag treatable tag was added to gene: CBS.
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	CBS	Zornitza Stark reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27778219; Phenotypes: Homocystinuria (MIM# 236200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	CFTR	Zornitza Stark Tag treatable tag was added to gene: CFTR.
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	CFTR	Zornitza Stark Marked gene: CFTR as ready
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	CFTR	Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	CFTR	Zornitza Stark changed review comment from: Well established gene-disease association. Typically presents in infancy and early childhood. Early treatment improves outcomes. Non-genetic confirmatory testing available.; to: Well established gene-disease association. Typically presents in infancy and early childhood. Early treatment improves outcomes. Non-genetic confirmatory testing available: sweat test.
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	CFTR	Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	CYP21A2	Zornitza Stark Marked gene: CYP21A2 as ready
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	CYP21A2	Zornitza Stark Gene: cyp21a2 has been classified as Green List (High Evidence).
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	CYP21A2	Zornitza Stark Tag for review tag was added to gene: CYP21A2.
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	CYP21A2	Zornitza Stark reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	MMADHC	Zornitza Stark Tag treatable tag was added to gene: MMADHC.
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	MMADHC	Zornitza Stark reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria, cblD type, variant 1 MIM#277410, Methylmalonic aciduria and homocystinuria, cblD type MIM#277410, Methylmalonic aciduria, cblD type, variant 2 MIM#277410, Disorders of cobalamin absorption, transport and metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	MMACHC	Zornitza Stark Marked gene: MMACHC as ready
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	MMACHC	Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	MMACHC	Zornitza Stark Tag treatable tag was added to gene: MMACHC.
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	MMACHC	Zornitza Stark reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	SLC25A20	Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	SLC25A20	Zornitza Stark reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 33085788, 32885845; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	SLC22A5	Zornitza Stark Marked gene: SLC22A5 as ready
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	SLC22A5	Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	SLC22A5	Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	SLC22A5	Zornitza Stark reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	MT-RNR1	Zornitza Stark Marked gene: MT-RNR1 as ready
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	MT-RNR1	Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	MT-RNR1	Zornitza Stark Classified gene: MT-RNR1 as Green List (high evidence)
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.268	MT-RNR1	Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
29 Sep 2022	Genomic newborn screening: BabyScreen+ v0.267	MT-RNR1	Zornitza Stark gene: MT-RNR1 was added gene: MT-RNR1 was added to gNBS. Sources: Expert Review pharmacogenomic tags were added to gene: MT-RNR1. Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL Phenotypes for gene: MT-RNR1 were set to Aminoglycoside sensitivity Review for gene: MT-RNR1 was set to GREEN Added comment: The following variants have been associated with aminoglycoside-induced deafness: m.1555A>G m.1005T>C m.1095T>C Alerts can be placed in medical records to avoid aminoglycoside administration. Sources: Expert Review
28 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	COQ8B	John Christodoulou reviewed gene: COQ8B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	COQ8A	John Christodoulou reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	COQ7	John Christodoulou reviewed gene: COQ7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	COQ4	John Christodoulou reviewed gene: COQ4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	COLQ	John Christodoulou reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	CLN8	John Christodoulou reviewed gene: CLN8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	CLN6	John Christodoulou reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	CLN5	John Christodoulou reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	CLN3	John Christodoulou reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	CHRNG	John Christodoulou reviewed gene: CHRNG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	CHRNE	John Christodoulou reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	CHRND	John Christodoulou changed review comment from: congenital myasthenia syndrome anti cholinesterase inhibitors partially effective - PMID: 30808424; www.ncbi.nlm.nih.gov/books/NBK1168/#cms.Summary; to: congenital myasthenia syndrome anti cholinesterase inhibitors partially effective; 3,4-DAP effective - PMID: 30808424; www.ncbi.nlm.nih.gov/books/NBK1168/#cms.Summary
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	CHRND	John Christodoulou reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	CHRNA1	John Christodoulou reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	CHAT	John Christodoulou reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	CA5A	John Christodoulou reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	BTK	John Christodoulou reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	BCS1L	John Christodoulou reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	BCKDK	John Christodoulou reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	BCHE	John Christodoulou reviewed gene: BCHE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	AUH	John Christodoulou reviewed gene: AUH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.266	MCFD2	Zornitza Stark Phenotypes for gene: MCFD2 were changed from Factor V and Factor VIII deficiency, combined to Factor V and factor VIII, combined deficiency of, MIM# 613625
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.265	MCFD2	Zornitza Stark Tag for review tag was added to gene: MCFD2.
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.265	MC2R	Zornitza Stark Marked gene: MC2R as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.265	MC2R	Zornitza Stark Gene: mc2r has been classified as Green List (High Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.265	MC2R	Zornitza Stark Tag treatable tag was added to gene: MC2R.
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.265	MC2R	Zornitza Stark reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.265	MBTPS2	Zornitza Stark Marked gene: MBTPS2 as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.265	MBTPS2	Zornitza Stark Gene: mbtps2 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.265	MBTPS2	Zornitza Stark Phenotypes for gene: MBTPS2 were changed from Ichthyosis follicularis, alopecia & photophobia to IFAP syndrome with or without BRESHECK syndrome MIM#308205
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.264	MBTPS2	Zornitza Stark Classified gene: MBTPS2 as Red List (low evidence)
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.264	MBTPS2	Zornitza Stark Gene: mbtps2 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.263	MARVELD2	Zornitza Stark Marked gene: MARVELD2 as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.263	MARVELD2	Zornitza Stark Gene: marveld2 has been classified as Green List (High Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.263	MARVELD2	Zornitza Stark Phenotypes for gene: MARVELD2 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 49, MIM# 610153
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.262	MAP2K2	Zornitza Stark Marked gene: MAP2K2 as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.262	MAP2K2	Zornitza Stark Gene: map2k2 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.262	MAP2K2	Zornitza Stark Phenotypes for gene: MAP2K2 were changed from Cardiofaciocutaneous syndrome to Cardiofaciocutaneous syndrome 4, MIM# 615280
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.261	MAP2K2	Zornitza Stark Classified gene: MAP2K2 as Red List (low evidence)
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.261	MAP2K2	Zornitza Stark Gene: map2k2 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.260	MAP2K1	Zornitza Stark Marked gene: MAP2K1 as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.260	MAP2K1	Zornitza Stark Gene: map2k1 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.260	MAP2K1	Zornitza Stark Phenotypes for gene: MAP2K1 were changed from Cardiofaciocutaneous syndrome to Cardiofaciocutaneous syndrome 3, MIM# 615279
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.259	MAP2K1	Zornitza Stark Classified gene: MAP2K1 as Red List (low evidence)
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.259	MAP2K1	Zornitza Stark Gene: map2k1 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.258	MAN2B1	Zornitza Stark Marked gene: MAN2B1 as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.258	MAN2B1	Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.258	MAN2B1	Zornitza Stark Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha to Mannosidosis, alpha-, types I and II, MIM# 248500
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.257	MAN2B1	Zornitza Stark Tag treatable tag was added to gene: MAN2B1.
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.257	MAGI2	Zornitza Stark Tag for review tag was added to gene: MAGI2.
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.257	MAGI2	Zornitza Stark reviewed gene: MAGI2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 15, MIM# 617609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.257	MAFB	Zornitza Stark Marked gene: MAFB as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.257	MAFB	Zornitza Stark Gene: mafb has been classified as Green List (High Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.257	MAFB	Zornitza Stark Phenotypes for gene: MAFB were changed from Multicentric carpotarsal osteolysis syndrome to Multicentric carpotarsal osteolysis syndrome (MIM#166300)
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.256	MAFB	Zornitza Stark Publications for gene: MAFB were set to
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.255	MAFB	Zornitza Stark Tag for review tag was added to gene: MAFB.
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.255	MAFB	Zornitza Stark changed review comment from: Two case reports of successful treatment with cyclosporin. For review.; to: Two case reports of successful treatment (esp of nephropathy) with cyclosporin. For review.
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.255	MAFB	Zornitza Stark reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 33975323; Phenotypes: Multicentric carpotarsal osteolysis syndrome (MIM#166300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.255	MAD2L2	Zornitza Stark Marked gene: MAD2L2 as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.255	MAD2L2	Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.255	MAD2L2	Zornitza Stark Publications for gene: MAD2L2 were set to
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.254	MAD2L2	Zornitza Stark Classified gene: MAD2L2 as Red List (low evidence)
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.254	MAD2L2	Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.253	LYST	Zornitza Stark Tag treatable tag was added to gene: LYST.
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.253	LTBP4	Zornitza Stark Marked gene: LTBP4 as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.253	LTBP4	Zornitza Stark Gene: ltbp4 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.253	LTBP4	Zornitza Stark Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC to Cutis laxa, autosomal recessive, type IC (MIM# 613177)
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.252	LTBP4	Zornitza Stark Classified gene: LTBP4 as Red List (low evidence)
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.252	LTBP4	Zornitza Stark Gene: ltbp4 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.251	LTBP4	Zornitza Stark reviewed gene: LTBP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IC (MIM# 613177); Mode of inheritance: None
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.251	LRTOMT	Zornitza Stark Marked gene: LRTOMT as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.251	LRTOMT	Zornitza Stark Gene: lrtomt has been classified as Green List (High Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.251	LRTOMT	Zornitza Stark Phenotypes for gene: LRTOMT were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 63, MIM# 611451
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.250	LRRC6	Zornitza Stark Marked gene: LRRC6 as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.250	LRRC6	Zornitza Stark Gene: lrrc6 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.250	LRRC6	Zornitza Stark Phenotypes for gene: LRRC6 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 19, MIM# 614935
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.249	LRRC6	Zornitza Stark Classified gene: LRRC6 as Red List (low evidence)
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.249	LRRC6	Zornitza Stark Gene: lrrc6 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.248	LRRC6	Zornitza Stark reviewed gene: LRRC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 19, MIM# 614935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.248	MCOLN1	David Amor reviewed gene: MCOLN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV; Mode of inheritance: None
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.248	LRSAM1	Zornitza Stark Marked gene: LRSAM1 as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.248	LRSAM1	Zornitza Stark Gene: lrsam1 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.248	LRSAM1	Zornitza Stark Phenotypes for gene: LRSAM1 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.247	LRSAM1	Zornitza Stark Mode of inheritance for gene: LRSAM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.246	LRSAM1	Zornitza Stark Classified gene: LRSAM1 as Red List (low evidence)
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.246	LRSAM1	Zornitza Stark Gene: lrsam1 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.245	LRPPRC	Zornitza Stark Marked gene: LRPPRC as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.245	LRPPRC	Zornitza Stark Gene: lrpprc has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.245	LRPPRC	Zornitza Stark Phenotypes for gene: LRPPRC were changed from Leigh syndrome to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.244	LRPPRC	Zornitza Stark Classified gene: LRPPRC as Red List (low evidence)
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.244	LRPPRC	Zornitza Stark Gene: lrpprc has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.243	LRPPRC	Zornitza Stark reviewed gene: LRPPRC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.243	LRP5	Zornitza Stark Marked gene: LRP5 as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.243	LRP5	Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.243	LRP5	Zornitza Stark Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant; Osteoporosis-pseudoglioma syndrome to Osteoporosis-pseudoglioma syndrome, MIM# 259770
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.242	LRP5	Zornitza Stark Mode of inheritance for gene: LRP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.241	LRP5	Zornitza Stark Tag for review tag was added to gene: LRP5.
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.241	LRP5	Zornitza Stark reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteoporosis-pseudoglioma syndrome, MIM# 259770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.241	MCFD2	David Amor changed review comment from: Gene-disease association: strong but rare. Onset: birth Treatment: clotting factor supplementation, However only reported to cause mild-moderate bleeding tendency so consider excluding?; to: Gene-disease association: strong but rare. Onset: birth Treatment: clotting factor supplementation, However only reported to cause mild-moderate bleeding tendency so consider excluding?
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.241	MCFD2	David Amor reviewed gene: MCFD2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Combine FV and FVIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.241	LRP4	Zornitza Stark Marked gene: LRP4 as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.241	LRP4	Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.241	LRP4	Zornitza Stark Phenotypes for gene: LRP4 were changed from Cenani-Lenz syndactyly syndrome; Myasthenic syndrome, congenital, 17 , MIM#616304 to Myasthenic syndrome, congenital, 17 , MIM#616304
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.240	LRP4	Zornitza Stark Tag for review tag was added to gene: LRP4.
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.240	LRP4	Zornitza Stark reviewed gene: LRP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 17, MIM# 616304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.240	LRP2	Zornitza Stark Marked gene: LRP2 as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.240	LRP2	Zornitza Stark Gene: lrp2 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.240	LRP2	Zornitza Stark Phenotypes for gene: LRP2 were changed from Donnai-Barrow syndrome to Donnai-Barrow syndrome, MIM#222448
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.239	LRP2	Zornitza Stark Classified gene: LRP2 as Red List (low evidence)
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.239	LRP2	Zornitza Stark Gene: lrp2 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.238	LRP2	Zornitza Stark reviewed gene: LRP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.238	LOXHD1	Zornitza Stark Marked gene: LOXHD1 as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.238	LOXHD1	Zornitza Stark Gene: loxhd1 has been classified as Green List (High Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.238	LOXHD1	Zornitza Stark Phenotypes for gene: LOXHD1 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 77, MIM# 613079
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.237	MC2R	David Amor reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial glucocorticoid deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.237	LOXHD1	Zornitza Stark reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 77, MIM# 613079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.237	LMX1B	Zornitza Stark Marked gene: LMX1B as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.237	LMX1B	Zornitza Stark Gene: lmx1b has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.237	LMX1B	Zornitza Stark Phenotypes for gene: LMX1B were changed from Nail patella syndrome to Nail-patella syndrome, MIM# 161200, MONDO:0008061
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.236	LMX1B	Zornitza Stark Classified gene: LMX1B as Red List (low evidence)
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.236	LMX1B	Zornitza Stark Gene: lmx1b has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.235	LMX1B	Zornitza Stark reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome, MIM# 161200, MONDO:0008061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.235	LMOD3	Zornitza Stark Marked gene: LMOD3 as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.235	LMOD3	Zornitza Stark Gene: lmod3 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.235	LMOD3	Zornitza Stark Phenotypes for gene: LMOD3 were changed from Nemaline myopathy to Nemaline myopathy 10, MIM# 616165
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.234	LMOD3	Zornitza Stark Classified gene: LMOD3 as Red List (low evidence)
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.234	LMOD3	Zornitza Stark Gene: lmod3 has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.233	LMOD3	Zornitza Stark reviewed gene: LMOD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 10, MIM# 616165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.233	LMBRD1	Zornitza Stark Marked gene: LMBRD1 as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.233	LMBRD1	Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.233	LMBRD1	Zornitza Stark Tag treatable tag was added to gene: LMBRD1.
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.233	LMBRD1	Zornitza Stark reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblF type MIM# 277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.233	LITAF	Zornitza Stark Marked gene: LITAF as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.233	LITAF	Zornitza Stark Gene: litaf has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.233	LITAF	Zornitza Stark Phenotypes for gene: LITAF were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 1C, MIM# 601098
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.232	LITAF	Zornitza Stark Mode of pathogenicity for gene: LITAF was changed from to None
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.231	LITAF	Zornitza Stark Classified gene: LITAF as Red List (low evidence)
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.231	LITAF	Zornitza Stark Gene: litaf has been classified as Red List (Low Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.230	LIPA	Zornitza Stark Marked gene: LIPA as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.230	LIPA	Zornitza Stark Gene: lipa has been classified as Green List (High Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.230	LIPA	Zornitza Stark Phenotypes for gene: LIPA were changed from Wolman syndrome, MIM#278000 to Wolman syndrome, MIM#278000
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.229	LIPA	Zornitza Stark Tag treatable tag was added to gene: LIPA.
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.229	LIPA	Zornitza Stark reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholesteryl ester storage disease, MIM# 278000, Wolman disease, MIM# 278000, Lysosomal acid lipase deficiency, MONDO:0010204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.229	LIG4	Zornitza Stark Marked gene: LIG4 as ready
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.229	LIG4	Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.229	MBTPS2	David Amor reviewed gene: MBTPS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: IFAP syndrome: ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.229	MARVELD2	David Amor reviewed gene: MARVELD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic deafness, prelingual; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.229	MAP2K2	David Amor reviewed gene: MAP2K2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CFC syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.229	MAP2K1	David Amor reviewed gene: MAP2K1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CFC syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.229	MAN2B1	David Amor reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-mannosidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.229	MAGI2	David Amor reviewed gene: MAGI2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 27932480; Phenotypes: congenital nephrotic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.229	MAFB	David Amor reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Multicentric carpotarsal osteolysis syndrome, renal failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Sep 2022	Genomic newborn screening: BabyScreen+ v0.229	MAD2L2	David Amor reviewed gene: MAD2L2: Rating: RED; Mode of pathogenicity: None; Publications: 27500492; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.229	LIG4	Zornitza Stark Phenotypes for gene: LIG4 were changed from Severe combined immunodeficiency with sensitivity to ionizing radiation to LIG4 syndrome, MIM# 606593
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.228	LIG4	Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.228	LIFR	Zornitza Stark edited their review of gene: LIFR: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.228	LIFR	Zornitza Stark Marked gene: LIFR as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.228	LIFR	Zornitza Stark Gene: lifr has been classified as Red List (Low Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.228	LIFR	Zornitza Stark Phenotypes for gene: LIFR were changed from Stuve-Wiedemann syndrome to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.227	LIFR	Zornitza Stark edited their review of gene: LIFR: Changed phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.227	LIFR	Zornitza Stark Classified gene: LIFR as Red List (low evidence)
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.227	LIFR	Zornitza Stark Gene: lifr has been classified as Red List (Low Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.226	LIFR	Zornitza Stark reviewed gene: LIFR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.226	LHX4	Zornitza Stark Marked gene: LHX4 as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.226	LHX4	Zornitza Stark Gene: lhx4 has been classified as Green List (High Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.226	LHX4	Zornitza Stark Mode of inheritance for gene: LHX4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.225	LHX4	Zornitza Stark Tag treatable tag was added to gene: LHX4.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.225	LHX4	Zornitza Stark reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.225	LHX3	Zornitza Stark Marked gene: LHX3 as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.225	LHX3	Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.225	LHX3	Zornitza Stark Tag treatable tag was added to gene: LHX3.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.225	LHX3	Zornitza Stark reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3 (MIM#221750); Mode of inheritance: None
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.225	LHFPL5	Zornitza Stark Marked gene: LHFPL5 as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.225	LHFPL5	Zornitza Stark Gene: lhfpl5 has been classified as Green List (High Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.225	LHFPL5	Zornitza Stark Phenotypes for gene: LHFPL5 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 67, MIM# 610265
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.224	LHFPL5	Zornitza Stark reviewed gene: LHFPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 67, MIM# 610265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.224	LEPR	Zornitza Stark Marked gene: LEPR as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.224	LEPR	Zornitza Stark Gene: lepr has been classified as Green List (High Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.224	LEPR	Zornitza Stark Phenotypes for gene: LEPR were changed from Obesity, morbid, due to leptin receptor deficiency to Obesity, morbid, due to leptin receptor deficiency (MIM#614963)
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.223	LEPR	Zornitza Stark Tag clinical trial tag was added to gene: LEPR.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.223	LEPR	Zornitza Stark Publications for gene: LEPR were set to
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.222	LEPR	Zornitza Stark Tag treatable tag was added to gene: LEPR.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.222	LEPR	Zornitza Stark changed review comment from: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability. Further clinical trial pending.; to: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability. Further clinical trial due to recruit.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.222	LEPR	Zornitza Stark changed review comment from: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.; to: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability. Further clinical trial pending.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.222	LEPR	Zornitza Stark reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 33137293; Phenotypes: Obesity, morbid, due to leptin receptor deficiency (MIM#614963); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.222	LDLR	Zornitza Stark changed review comment from: ClinGen: 'strong actionability' in paediatric patients. For review as clinical manifestations are typically in adulthood. Statin therapy is recommended to be initiated as early as 8-12 years of age. Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment.; to: ClinGen: 'strong actionability' in paediatric patients. For review as clinical manifestations are typically in adulthood. Statin therapy is recommended to be initiated as early as 8-12 years of age. However, there is also a severe, bi-allelic form with onset in early childhood. Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.222	LARS2	Zornitza Stark changed review comment from: For review. Treatment is supportive.; to: For review. Variable severity. Treatment is supportive.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.222	LARS2	Zornitza Stark Marked gene: LARS2 as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.222	LARS2	Zornitza Stark Gene: lars2 has been classified as Red List (Low Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.222	LARS2	Zornitza Stark Phenotypes for gene: LARS2 were changed from Perrault syndrome to Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Perrault syndrome 4, MIM# 615300
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.221	LARS2	Zornitza Stark Classified gene: LARS2 as Red List (low evidence)
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.221	LARS2	Zornitza Stark Gene: lars2 has been classified as Red List (Low Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.220	LARS2	Zornitza Stark reviewed gene: LARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.220	LDLR	Zornitza Stark Marked gene: LDLR as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.220	LDLR	Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.220	LDLR	Zornitza Stark Phenotypes for gene: LDLR were changed from Hypercholesterolemia to Hypercholesterolemia, familial, 1, MIM# 143890
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.219	LDLR	Zornitza Stark Mode of inheritance for gene: LDLR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.218	LDLR	Zornitza Stark edited their review of gene: LDLR: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.218	LDLR	Zornitza Stark Tag for review tag was added to gene: LDLR.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.218	LDLR	Zornitza Stark reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 1, MIM# 143890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.218	LARGE1	Zornitza Stark Marked gene: LARGE1 as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.218	LARGE1	Zornitza Stark Gene: large1 has been classified as Red List (Low Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.218	LARGE1	Zornitza Stark Phenotypes for gene: LARGE1 were changed from Walker-Warburg syndrome to 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
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.217	LARGE1	Zornitza Stark Classified gene: LARGE1 as Red List (low evidence)
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.217	LARGE1	Zornitza Stark Gene: large1 has been classified as Red List (Low Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.216	LARGE1	Zornitza Stark reviewed gene: LARGE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.216	LAMTOR2	Zornitza Stark Marked gene: LAMTOR2 as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.216	LAMTOR2	Zornitza Stark Gene: lamtor2 has been classified as Red List (Low Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.216	LAMTOR2	Zornitza Stark Publications for gene: LAMTOR2 were set to
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.215	LAMTOR2	Zornitza Stark Classified gene: LAMTOR2 as Red List (low evidence)
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.215	LAMTOR2	Zornitza Stark Gene: lamtor2 has been classified as Red List (Low Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.214	LAMP2	Zornitza Stark Marked gene: LAMP2 as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.214	LAMP2	Zornitza Stark Gene: lamp2 has been classified as Red List (Low Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.214	LAMP2	Zornitza Stark Phenotypes for gene: LAMP2 were changed from Danon disease to Danon disease, MIM# 300257
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.213	LAMP2	Zornitza Stark Mode of inheritance for gene: LAMP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.212	LAMP2	Zornitza Stark Classified gene: LAMP2 as Red List (low evidence)
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.212	LAMP2	Zornitza Stark Gene: lamp2 has been classified as Red List (Low Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.211	LAMP2	Zornitza Stark Tag for review tag was added to gene: LAMP2.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.211	LAMP2	Zornitza Stark edited their review of gene: LAMP2: Changed rating: RED
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.211	LAMP2	Zornitza Stark reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease, MIM# 300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.211	LAMC2	Zornitza Stark Marked gene: LAMC2 as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.211	LAMC2	Zornitza Stark Gene: lamc2 has been classified as Red List (Low Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.211	LAMC2	Zornitza Stark Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional to Epidermolysis bullosa, junctional 3B, severe, MIM# 619786
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.210	LAMC2	Zornitza Stark Classified gene: LAMC2 as Red List (low evidence)
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.210	LAMC2	Zornitza Stark Gene: lamc2 has been classified as Red List (Low Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.209	LAMC2	Zornitza Stark reviewed gene: LAMC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 3B, severe, MIM# 619786; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.209	LAMB3	Zornitza Stark reviewed gene: LAMB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amelogenesis imperfecta, type IA, MIM# 104530, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.209	LAMB2	Zornitza Stark Marked gene: LAMB2 as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.209	LAMB2	Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.209	LAMB2	Zornitza Stark Phenotypes for gene: LAMB2 were changed from Pierson syndrome to Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Pierson syndrome, MIM# 609049
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.208	LAMB2	Zornitza Stark Classified gene: LAMB2 as Red List (low evidence)
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.208	LAMB2	Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.207	LAMB2	Zornitza Stark reviewed gene: LAMB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199, Pierson syndrome, MIM# 609049; Mode of inheritance: None
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.207	LAMA3	Zornitza Stark Marked gene: LAMA3 as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.207	LAMA3	Zornitza Stark Gene: lama3 has been classified as Red List (Low Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.207	LAMA3	Zornitza Stark Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional to Epidermolysis bullosa, junctional 2B, severe, MIM# 619784
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.206	LAMA3	Zornitza Stark Classified gene: LAMA3 as Red List (low evidence)
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.206	LAMA3	Zornitza Stark Gene: lama3 has been classified as Red List (Low Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	LAMA3	Zornitza Stark reviewed gene: LAMA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 2B, severe, MIM# 619784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	LAMA2	Zornitza Stark Tag for review tag was added to gene: LAMA2.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	LAMA2	Zornitza Stark reviewed gene: LAMA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	L1CAM	Zornitza Stark Tag for review tag was added to gene: L1CAM.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	L1CAM	Zornitza Stark reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	ATP7B	John Christodoulou reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	LYST	David Amor reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	ASL	John Christodoulou reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	LTBP4	David Amor reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LTBP4-related cutis laxa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	ARSB	John Christodoulou reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	LRTOMT	David Amor reviewed gene: LRTOMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic deafness, prelingual; Mode of inheritance: None
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	LRSAM1	David Amor reviewed gene: LRSAM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CMT2G, CMT2P; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	ARG1	John Christodoulou reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	LRRC6	David Amor reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	AHCY	John Christodoulou reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	LRPPRC	David Amor reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	AGL	John Christodoulou reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	LRP5	David Amor edited their review of gene: LRP5: Changed phenotypes: osteoporosis-pseudoglioma syndrome, cause exudative vireoretinopathy, osteopetrosis
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	CPT2	Zornitza Stark Marked gene: CPT2 as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	CPT2	Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.205	CPT2	Zornitza Stark Phenotypes for gene: CPT2 were changed from Carnitine palmitoyltransferase 2 deficiency to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.204	CPT2	Zornitza Stark Publications for gene: CPT2 were set to
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.203	LRP5	David Amor reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.203	CPT2	Zornitza Stark Tag treatable tag was added to gene: CPT2.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.203	CPT2	Zornitza Stark reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885845; Phenotypes: CPT II deficiency, infantile 600649, CPT II deficiency, lethal neonatal 608836, CPT II deficiency, myopathic, stress-induced 255110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.203	ACAD9	John Christodoulou reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.203	LRP4	David Amor reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital myaesthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.203	CPT1A	Zornitza Stark Marked gene: CPT1A as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.203	CPT1A	Zornitza Stark Gene: cpt1a has been classified as Green List (High Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.203	CPT1A	Zornitza Stark Publications for gene: CPT1A were set to
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.202	CPT1A	Zornitza Stark Tag treatable tag was added to gene: CPT1A.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.202	CPT1A	Zornitza Stark reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885845; Phenotypes: CPT deficiency, hepatic, type IA, MIM# 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.202	LRP2	David Amor reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Donnai-Barrow syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.202	LOXHD1	David Amor reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: non-syndromic deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.202	BCKDHB	Zornitza Stark Marked gene: BCKDHB as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.202	BCKDHB	Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.202	BCKDHB	Zornitza Stark Phenotypes for gene: BCKDHB were changed from Maple syrup urine disease to Maple syrup urine disease, type Ib, MIM# 248600
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.201	BCKDHB	Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.201	BCKDHB	Zornitza Stark reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ib, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.201	LMX1B	David Amor reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.201	BCKDHA	Zornitza Stark Marked gene: BCKDHA as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.201	BCKDHA	Zornitza Stark Gene: bckdha has been classified as Green List (High Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.201	BCKDHA	Zornitza Stark Phenotypes for gene: BCKDHA were changed from Maple syrup urine disease to Maple syrup urine disease, type Ia, MIM# 248600
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.200	BCKDHA	Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.200	BCKDHA	Zornitza Stark reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.200	LMOD3	David Amor edited their review of gene: LMOD3: Changed rating: GREEN
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.200	LMOD3	David Amor reviewed gene: LMOD3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.200	DBT	Zornitza Stark Marked gene: DBT as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.200	DBT	Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.200	DBT	Zornitza Stark Tag treatable tag was added to gene: DBT.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.200	LMBRD1	David Amor reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined methylmalonic acidemia and homocystinuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.200	DBT	Zornitza Stark reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.200	LITAF	David Amor reviewed gene: LITAF: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: CMT1C; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.200	HMGCL	Zornitza Stark Tag treatable tag was added to gene: HMGCL.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.200	LIPA	David Amor reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolman disease, cholesterol ester storage disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.200	ASS1	Zornitza Stark Marked gene: ASS1 as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.200	ASS1	Zornitza Stark Gene: ass1 has been classified as Green List (High Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.200	ASS1	Zornitza Stark Tag treatable tag was added to gene: ASS1.
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.200	ASS1	Zornitza Stark Phenotypes for gene: ASS1 were changed from Citrullinemia, MIM#215700 to Citrullinaemia, MIM#215700
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	ASS1	Zornitza Stark reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinaemia MIM#215700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	ACAT1	Zornitza Stark Marked gene: ACAT1 as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	ACAT1	Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	ACAT1	Zornitza Stark reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, MIM#203750, Beta-ketothiolase deficiency MONDO:0008760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LIG4	David Amor reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome, immunodeficiency, developmental delay, growth delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	HMGCL	Zornitza Stark Marked gene: HMGCL as ready
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	HMGCL	Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	HMGCL	Zornitza Stark reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LIFR	David Amor reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stuve-Wiedemann syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LHX4	David Amor reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: combined pituitary hormone deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LHX3	David Amor reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency; Mode of inheritance: None
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LHFPL5	David Amor reviewed gene: LHFPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic deafness, prelingual; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LEPR	David Amor reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: severe early onset obesity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LDLR	David Amor reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: familial hypercholesterolemia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LARS2	David Amor reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome, sensorineural hearing loss, ovarian dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LARGE1	David Amor reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wlaker-Warburg syndrome, muscular dystrophy-dystroglycanopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LAMTOR2	David Amor reviewed gene: LAMTOR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 17195838; Phenotypes: Immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LAMP2	David Amor reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease - cardiomyopathy, retinal disease, cognitive dysfunction; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LAMC2	David Amor reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LAMB3	David Amor reviewed gene: LAMB3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LAMB2	David Amor reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pierson syndrome - congenital nephrotic syndrome and eye abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LAMA3	David Amor reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LAMA2	David Amor reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LAMA2 muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	L1CAM	David Amor reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, X-linked corpus callosum agenesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	L1CAM	David Amor Deleted their review
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	L1CAM	David Amor reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, X-linked corpus callosu agenesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	SMN1	John Christodoulou reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	ACADVL	John Christodoulou reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	GALE	John Christodoulou reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	GALK1	John Christodoulou reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	GALT	John Christodoulou commented on gene: GALT: part of newborn screening programs nationally (but not in Victoria)
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	GALT	John Christodoulou reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	TAT	John Christodoulou reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	PCCB	John Christodoulou reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	PCCA	John Christodoulou reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	PCBD1	John Christodoulou reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	QDPR	John Christodoulou reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	PTS	John Christodoulou reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	PAH	John Christodoulou reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	ETFB	John Christodoulou reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	ETFA	John Christodoulou reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	ETFDH	John Christodoulou reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	HADHB	John Christodoulou reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	HADHA	John Christodoulou reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	MMAB	John Christodoulou reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	MMAA	John Christodoulou reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	MUT	John Christodoulou reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	ACADM	John Christodoulou reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	IVD	John Christodoulou reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	BTD	John Christodoulou reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	HLCS	John Christodoulou reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	GCDH	John Christodoulou reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	CBS	John Christodoulou reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	CFTR	John Christodoulou reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	CYP21A2	John Christodoulou reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	LMBRD1	John Christodoulou reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	MMADHC	John Christodoulou reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	MMACHC	John Christodoulou reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	SLC25A20	John Christodoulou reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	SLC22A5	John Christodoulou reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	CPT2	John Christodoulou reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	CPT1A	John Christodoulou reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	BCKDHB	John Christodoulou reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	BCKDHA	John Christodoulou reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	DBT	John Christodoulou reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	ASS1	John Christodoulou reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	ACAT1	John Christodoulou reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2022	Genomic newborn screening: BabyScreen+ v0.199	HMGCL	John Christodoulou reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.198	BRAF	Zornitza Stark Marked gene: BRAF as ready
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.198	BRAF	Zornitza Stark Gene: braf has been classified as Red List (Low Evidence).
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.198	BRAF	Zornitza Stark Classified gene: BRAF as Red List (low evidence)
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.198	BRAF	Zornitza Stark Gene: braf has been classified as Red List (Low Evidence).
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.197	BRAF	Zornitza Stark reviewed gene: BRAF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 7, MIM# 613706, Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.197	BLNK	Zornitza Stark Tag treatable tag was added to gene: BLNK.
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.197	BLNK	Zornitza Stark reviewed gene: BLNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 10583958, 32194234, 25893637; Phenotypes: Agammaglobulinaemia 4, MIM# 613502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.197	BIN1	Zornitza Stark Marked gene: BIN1 as ready
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.197	BIN1	Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence).
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.197	BIN1	Zornitza Stark Phenotypes for gene: BIN1 were changed from Myopathy, centronuclear, autosomal recessive to Centronuclear myopathy 2, MIM# 255200
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.196	BIN1	Zornitza Stark Classified gene: BIN1 as Red List (low evidence)
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.196	BIN1	Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence).
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.195	BIN1	Zornitza Stark reviewed gene: BIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 2, MIM# 255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.195	BICD2	Zornitza Stark Marked gene: BICD2 as ready
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.195	BICD2	Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.195	BICD2	Zornitza Stark Phenotypes for gene: BICD2 were changed from Congenital spinal muscular atrophy to 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
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.194	BICD2	Zornitza Stark Publications for gene: BICD2 were set to
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.193	BICD2	Zornitza Stark Mode of inheritance for gene: BICD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.192	BICD2	Zornitza Stark Classified gene: BICD2 as Red List (low evidence)
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.192	BICD2	Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.191	BICD2	Zornitza Stark reviewed gene: BICD2: Rating: RED; Mode of pathogenicity: None; Publications: 23664116, 23664119, 23664120, 27751653, 28635954, 30054298, 29528393, 35896821; Phenotypes: 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; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.191	ATP6V1B1	Zornitza Stark Marked gene: ATP6V1B1 as ready
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.191	ATP6V1B1	Zornitza Stark Gene: atp6v1b1 has been classified as Green List (High Evidence).
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.191	ATP6V1B1	Zornitza Stark Phenotypes for gene: ATP6V1B1 were changed from Renal tubular acidosis & hearing loss, MIM#267300 to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.190	ATP8B1	Zornitza Stark Marked gene: ATP8B1 as ready
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.190	ATP8B1	Zornitza Stark Gene: atp8b1 has been classified as Red List (Low Evidence).
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.190	ATP8B1	Zornitza Stark Phenotypes for gene: ATP8B1 were changed from Cholestasis, progressive familial intrahepatic 1 to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.189	ATP8B1	Zornitza Stark Classified gene: ATP8B1 as Red List (low evidence)
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.189	ATP8B1	Zornitza Stark Gene: atp8b1 has been classified as Red List (Low Evidence).
24 Sep 2022	Genomic newborn screening: BabyScreen+ v0.188	ATP8B1	Zornitza Stark reviewed gene: ATP8B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600, Cholestasis, benign recurrent intrahepatic, MIM# 243300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.188	ACVRL1	Zornitza Stark changed review comment from: Well established gene-disease association. Variable age of symptom onset and severity. No specific treatment available.; to: Well established gene-disease association. Variable age of symptom onset and severity. No specific treatment available. However, management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.188	ACVRL1	Zornitza Stark edited their review of gene: ACVRL1: Changed publications: 32894695
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.188	ACVRL1	Zornitza Stark Tag for review tag was added to gene: ACVRL1.
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.188	ACVRL1	Zornitza Stark Marked gene: ACVRL1 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.188	ACVRL1	Zornitza Stark Gene: acvrl1 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.188	ACVRL1	Zornitza Stark Classified gene: ACVRL1 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.188	ACVRL1	Zornitza Stark Gene: acvrl1 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.187	ACVRL1	Zornitza Stark reviewed gene: ACVRL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.187	ATP6V0A4	Zornitza Stark Marked gene: ATP6V0A4 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.187	ATP6V0A4	Zornitza Stark Gene: atp6v0a4 has been classified as Green List (High Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.187	ACVR1	Zornitza Stark Marked gene: ACVR1 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.187	ACVR1	Zornitza Stark Gene: acvr1 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.187	ACVR1	Zornitza Stark Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva to Fibrodysplasia ossificans progressiva, MIM# 135100
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.186	ACVR1	Zornitza Stark Publications for gene: ACVR1 were set to
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.185	ACVR1	Zornitza Stark Classified gene: ACVR1 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.185	ACVR1	Zornitza Stark Gene: acvr1 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.184	ACVR1	Zornitza Stark Tag for review tag was added to gene: ACVR1. Tag clinical trial tag was added to gene: ACVR1.
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.184	ACVR1	Zornitza Stark reviewed gene: ACVR1: Rating: RED; Mode of pathogenicity: None; Publications: 16642017, 29089047, 35384641; Phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.184	ACOX1	Zornitza Stark Marked gene: ACOX1 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.184	ACOX1	Zornitza Stark Gene: acox1 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.184	ACOX1	Zornitza Stark Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.183	ACOX1	Zornitza Stark Publications for gene: ACOX1 were set to
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.182	ACOX1	Zornitza Stark Mode of inheritance for gene: ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.181	ACOX1	Zornitza Stark Classified gene: ACOX1 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.181	ACOX1	Zornitza Stark Gene: acox1 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.180	ACOX1	Zornitza Stark reviewed gene: ACOX1: Rating: RED; Mode of pathogenicity: None; Publications: 32169171, 17458872; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470, Mitchell syndrome, MIM# 618960; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.180	ALDOB	Zornitza Stark Marked gene: ALDOB as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.180	ALDOB	Zornitza Stark Gene: aldob has been classified as Green List (High Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.180	ALDOB	Zornitza Stark Phenotypes for gene: ALDOB were changed from Fructose intolerance, MIM#229600 to Fructose intolerance, hereditary, MIM# 229600
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.179	ALDOB	Zornitza Stark Tag treatable tag was added to gene: ALDOB.
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.179	ALDOB	Zornitza Stark edited their review of gene: ALDOB: Changed phenotypes: Fructose intolerance, hereditary, MIM# 229600
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.179	ALDOB	Zornitza Stark reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.179	ATP2B2	Zornitza Stark Marked gene: ATP2B2 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.179	ATP2B2	Zornitza Stark Gene: atp2b2 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.179	ATP2B2	Zornitza Stark Phenotypes for gene: ATP2B2 were changed from Deafness, childhood onset to Deafness, autosomal dominant 82, MIM# 619804
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.178	ATP2B2	Zornitza Stark Classified gene: ATP2B2 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.178	ATP2B2	Zornitza Stark Gene: atp2b2 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.177	ATP2B2	Zornitza Stark Tag for review tag was added to gene: ATP2B2.
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.177	ATP2B2	Zornitza Stark reviewed gene: ATP2B2: Rating: RED; Mode of pathogenicity: None; Publications: 30535804; Phenotypes: Deafness, autosomal dominant 82, MIM# 619804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.177	ATP1A2	Zornitza Stark Marked gene: ATP1A2 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.177	ATP1A2	Zornitza Stark Gene: atp1a2 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.177	ATP1A2	Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Hemiplegic migraine to 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
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.176	ATP1A2	Zornitza Stark Publications for gene: ATP1A2 were set to
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.175	ATP1A2	Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.174	ATP1A2	Zornitza Stark Classified gene: ATP1A2 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.174	ATP1A2	Zornitza Stark Gene: atp1a2 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.173	ATP1A2	Zornitza Stark edited their review of gene: ATP1A2: Changed publications: 31608932, 33880529
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.173	ATP1A2	Zornitza Stark reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 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; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.173	ALG9	Zornitza Stark Marked gene: ALG9 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.173	ALG9	Zornitza Stark Gene: alg9 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.173	ALG9	Zornitza Stark Mode of inheritance for gene: ALG9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.172	ALG9	Zornitza Stark Classified gene: ALG9 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.172	ALG9	Zornitza Stark Gene: alg9 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.171	ALG9	Zornitza Stark reviewed gene: ALG9: Rating: RED; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364, 30676690; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210, Polycystic kidney disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.171	ALG8	Zornitza Stark Marked gene: ALG8 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.171	ALG8	Zornitza Stark Gene: alg8 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.171	ALG8	Zornitza Stark Phenotypes for gene: ALG8 were changed from Congenital disorder of glycosylation, type Ih to Congenital disorder of glycosylation, type Ih, MIM# 608104
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.170	ALG8	Zornitza Stark Classified gene: ALG8 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.170	ALG8	Zornitza Stark Gene: alg8 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.169	ALG8	Zornitza Stark reviewed gene: ALG8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.169	ALG6	Zornitza Stark Marked gene: ALG6 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.169	ALG6	Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.169	ALG6	Zornitza Stark Phenotypes for gene: ALG6 were changed from Congenital disorder of glycosylation, type Ic to Congenital disorder of glycosylation, type Ic (MIM#603147)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.168	ALG6	Zornitza Stark Classified gene: ALG6 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.168	ALG6	Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.167	ALG6	Zornitza Stark reviewed gene: ALG6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.167	ALG3	Zornitza Stark Marked gene: ALG3 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.167	ALG3	Zornitza Stark Gene: alg3 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.167	ALG3	Zornitza Stark Phenotypes for gene: ALG3 were changed from Congenital disorder of glycosylation, type Id to Congenital disorder of glycosylation, type Id, MIM# 601110
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.166	ALG3	Zornitza Stark Classified gene: ALG3 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.166	ALG3	Zornitza Stark Gene: alg3 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.165	ALG3	Zornitza Stark reviewed gene: ALG3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Id 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.165	ALG12	Zornitza Stark Marked gene: ALG12 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.165	ALG12	Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.165	ALG12	Zornitza Stark Phenotypes for gene: ALG12 were changed from Congenital disorder of glycosylation, type Ig to Congenital disorder of glycosylation, type Ig, MIM# 607143
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.164	ALG12	Zornitza Stark Classified gene: ALG12 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.164	ALG12	Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.163	ALG12	Zornitza Stark reviewed gene: ALG12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ig, MIM# 607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.163	ALG1	Zornitza Stark Marked gene: ALG1 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.163	ALG1	Zornitza Stark Gene: alg1 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.163	ALG1	Zornitza Stark Phenotypes for gene: ALG1 were changed from Congenital disorder of glycosylation, type Ik to Congenital disorder of glycosylation, type Ik 608540
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.162	ALG1	Zornitza Stark Classified gene: ALG1 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.162	ALG1	Zornitza Stark Gene: alg1 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.161	ALG1	Zornitza Stark reviewed gene: ALG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ik 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.161	ATP7A	Zornitza Stark changed review comment from: Well established gene-disease association. ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein. Menkes disease typically presents in infancy, and if untreated is fatal. Typical age at diagnosis is ~8 months. Females are typically asymptomatic. In Australia, the birth incidence of MD is reported to be much higher (1/40,000-100,000 cf 1 in 300,000 elsewhere), which may be due to a founder effect Treatment: subcutaneous injections of copper histidine or copper chloride ClinGen has assessed as moderate evidence for actionability. Neonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.; to: Well established gene-disease association. ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein. Menkes disease typically presents in infancy, and if untreated is fatal. Typical age at diagnosis is ~8 months. Females are typically asymptomatic. In Australia, the birth incidence of MD is reported to be much higher (1/40,000-100,000 cf 1 in 300,000 elsewhere), which may be due to a founder effect. Non-genetic confirmatory testing: serum ceruloplasmin and copper, plasma catechols Treatment: subcutaneous injections of copper histidine or copper chloride ClinGen has assessed as moderate evidence for actionability. Neonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.161	ATP7A	Zornitza Stark Tag for review tag was added to gene: ATP7A. Tag treatable tag was added to gene: ATP7A.
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.161	ATP7A	Zornitza Stark Marked gene: ATP7A as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.161	ATP7A	Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.161	ATP7A	Zornitza Stark Publications for gene: ATP7A were set to
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.160	ATP7A	Zornitza Stark edited their review of gene: ATP7A: Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.160	ATP7A	Zornitza Stark reviewed gene: ATP7A: Rating: ; Mode of pathogenicity: None; Publications: 30594472; Phenotypes: Menkes disease MIM#309400; Mode of inheritance: None
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.160	ATRX	Zornitza Stark Marked gene: ATRX as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.160	ATRX	Zornitza Stark Gene: atrx has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.160	ATRX	Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome to Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.159	ATRX	Zornitza Stark Classified gene: ATRX as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.159	ATRX	Zornitza Stark Gene: atrx has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.158	ATRX	Zornitza Stark reviewed gene: ATRX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-thalassemia/mental retardation syndrome, MIM# 301040, Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.158	BAAT	Zornitza Stark Marked gene: BAAT as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.158	BAAT	Zornitza Stark Gene: baat has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.158	BAAT	Zornitza Stark Phenotypes for gene: BAAT were changed from Bile acid amidation defect to Bile acid conjugation defect 1, MIM# 619232
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.157	BAAT	Zornitza Stark Classified gene: BAAT as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.157	BAAT	Zornitza Stark Gene: baat has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.156	BAAT	Zornitza Stark reviewed gene: BAAT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bile acid conjugation defect 1, MIM# 619232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.156	B3GLCT	Zornitza Stark Marked gene: B3GLCT as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.156	B3GLCT	Zornitza Stark Gene: b3glct has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.156	B3GLCT	Zornitza Stark Phenotypes for gene: B3GLCT were changed from Peters-Plus syndrome to Peters-plus syndrome, MIM#261540
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.155	B3GLCT	Zornitza Stark Classified gene: B3GLCT as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.155	B3GLCT	Zornitza Stark Gene: b3glct has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.154	B3GLCT	Zornitza Stark reviewed gene: B3GLCT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peters-plus syndrome, MIM#261540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.154	BBS9	Zornitza Stark Marked gene: BBS9 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.154	BBS9	Zornitza Stark Gene: bbs9 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.154	BBS9	Zornitza Stark Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 9, MIM#615986
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.153	BBS9	Zornitza Stark Classified gene: BBS9 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.153	BBS9	Zornitza Stark Gene: bbs9 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.152	BBS9	Zornitza Stark reviewed gene: BBS9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 9, MIM#615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.152	BBS7	Zornitza Stark Marked gene: BBS7 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.152	BBS7	Zornitza Stark Gene: bbs7 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.152	BBS7	Zornitza Stark Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 7, MIM# 615984
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.151	BBS7	Zornitza Stark Classified gene: BBS7 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.151	BBS7	Zornitza Stark Gene: bbs7 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.150	BBS7	Zornitza Stark reviewed gene: BBS7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.150	BBS5	Zornitza Stark Marked gene: BBS5 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.150	BBS5	Zornitza Stark Gene: bbs5 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.150	BBS5	Zornitza Stark Phenotypes for gene: BBS5 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 5, MIM#615983
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.149	BBS5	Zornitza Stark Classified gene: BBS5 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.149	BBS5	Zornitza Stark Gene: bbs5 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.148	BBS5	Zornitza Stark reviewed gene: BBS5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.148	BBS4	Zornitza Stark Marked gene: BBS4 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.148	BBS4	Zornitza Stark Gene: bbs4 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.148	BBS4	Zornitza Stark Phenotypes for gene: BBS4 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 4, MIM#615982
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.147	BBS4	Zornitza Stark Classified gene: BBS4 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.147	BBS4	Zornitza Stark Gene: bbs4 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.146	BBS4	Zornitza Stark reviewed gene: BBS4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 4, MIM#615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.146	BBS2	Zornitza Stark Marked gene: BBS2 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.146	BBS2	Zornitza Stark Gene: bbs2 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.146	BBS2	Zornitza Stark Phenotypes for gene: BBS2 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 2, MIM# 615981
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.145	BBS2	Zornitza Stark Classified gene: BBS2 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.145	BBS2	Zornitza Stark Gene: bbs2 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.144	BBS2	Zornitza Stark reviewed gene: BBS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 2, MIM# 615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.144	BBS12	Zornitza Stark Marked gene: BBS12 as ready
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.144	BBS12	Zornitza Stark Gene: bbs12 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.144	BBS12	Zornitza Stark Phenotypes for gene: BBS12 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 12, MIM# 615989
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.143	BBS12	Zornitza Stark Classified gene: BBS12 as Red List (low evidence)
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.143	BBS12	Zornitza Stark Gene: bbs12 has been classified as Red List (Low Evidence).
23 Sep 2022	Genomic newborn screening: BabyScreen+ v0.142	BBS12	Zornitza Stark reviewed gene: BBS12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 12, MIM# 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.142	BBS10	Zornitza Stark Marked gene: BBS10 as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.142	BBS10	Zornitza Stark Gene: bbs10 has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.142	BBS10	Zornitza Stark Phenotypes for gene: BBS10 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 10, MIM# 615987
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.141	BBS10	Zornitza Stark Classified gene: BBS10 as Red List (low evidence)
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.141	BBS10	Zornitza Stark Gene: bbs10 has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.140	BBS10	Zornitza Stark reviewed gene: BBS10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 10, MIM# 615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.140	BBS1	Zornitza Stark Marked gene: BBS1 as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.140	BBS1	Zornitza Stark Gene: bbs1 has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.140	BBS1	Zornitza Stark Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 1, MIM# 209900
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.139	BBS1	Zornitza Stark Classified gene: BBS1 as Red List (low evidence)
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.139	BBS1	Zornitza Stark Gene: bbs1 has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.138	BBS1	Zornitza Stark reviewed gene: BBS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 1, MIM# 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.138	ATP6V1B1	Zornitza Stark Tag for review tag was added to gene: ATP6V1B1. Tag treatable tag was added to gene: ATP6V1B1.
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.138	ATP6V1B1	Zornitza Stark reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.138	ATP6V0A4	Zornitza Stark Tag for review tag was added to gene: ATP6V0A4. Tag treatable tag was added to gene: ATP6V0A4.
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.138	ATP6V0A4	Zornitza Stark reviewed gene: ATP6V0A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular acidosis, distal, autosomal recessive, MIM#602722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.138	ATP6V0A2	Zornitza Stark Marked gene: ATP6V0A2 as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.138	ATP6V0A2	Zornitza Stark Gene: atp6v0a2 has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.138	ATP6V0A2	Zornitza Stark Phenotypes for gene: ATP6V0A2 were changed from Cutis laxa, autosomal recessive, type IIA to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.137	ATP6V0A2	Zornitza Stark Classified gene: ATP6V0A2 as Red List (low evidence)
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.137	ATP6V0A2	Zornitza Stark Gene: atp6v0a2 has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.136	ATP6V0A2	Zornitza Stark reviewed gene: ATP6V0A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.136	ATP2A1	Zornitza Stark Marked gene: ATP2A1 as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.136	ATP2A1	Zornitza Stark Gene: atp2a1 has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.136	ATP2A1	Zornitza Stark Phenotypes for gene: ATP2A1 were changed from Brody myopathy to Brody myopathy, OMIM # 601003
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.135	ATP2A1	Zornitza Stark Classified gene: ATP2A1 as Red List (low evidence)
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.135	ATP2A1	Zornitza Stark Gene: atp2a1 has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.134	ATP2A1	Zornitza Stark reviewed gene: ATP2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brody myopathy, OMIM # 601003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.134	ATM	Zornitza Stark Marked gene: ATM as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.134	ATM	Zornitza Stark Gene: atm has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.134	ATM	Zornitza Stark Phenotypes for gene: ATM were changed from Ataxia-telangiectasia to Ataxia-telangiectasia, MIM# 208900
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.133	ATM	Zornitza Stark Classified gene: ATM as Red List (low evidence)
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.133	ATM	Zornitza Stark Gene: atm has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.132	ATM	Zornitza Stark reviewed gene: ATM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.132	ASPA	Zornitza Stark Marked gene: ASPA as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.132	ASPA	Zornitza Stark Gene: aspa has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.132	ASPA	Zornitza Stark Phenotypes for gene: ASPA were changed from Canavan disease to Canavan disease MIM#271900
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.131	ASPA	Zornitza Stark Classified gene: ASPA as Red List (low evidence)
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.131	ASPA	Zornitza Stark Gene: aspa has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.130	ASPA	Zornitza Stark reviewed gene: ASPA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease MIM#271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.130	ARPC1B	Zornitza Stark Marked gene: ARPC1B as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.130	ARPC1B	Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.130	ALMS1	Zornitza Stark Marked gene: ALMS1 as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.130	ALMS1	Zornitza Stark Gene: alms1 has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.130	ALMS1	Zornitza Stark Phenotypes for gene: ALMS1 were changed from Alstrom syndrome to Alstrom syndrome, MIM# 203800
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.129	ALMS1	Zornitza Stark Classified gene: ALMS1 as Red List (low evidence)
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.129	ALMS1	Zornitza Stark Gene: alms1 has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.128	ALMS1	Zornitza Stark reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome, MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.128	ARX	Zornitza Stark Marked gene: ARX as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.128	ARX	Zornitza Stark Gene: arx has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.128	ARX	Zornitza Stark Phenotypes for gene: ARX were changed from Lissencephaly, X-linked 2 to Lissencephaly, X-linked 2, MIM# 300215
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.127	ARX	Zornitza Stark Classified gene: ARX as Red List (low evidence)
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.127	ARX	Zornitza Stark Gene: arx has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.126	ARX	Zornitza Stark reviewed gene: ARX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked 2, MIM# 300215; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.126	ARSA	Zornitza Stark Marked gene: ARSA as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.126	ARSA	Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.126	ARSA	Zornitza Stark Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy to Metachromatic leukodystrophy, MIM# 250100
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.125	ARSA	Zornitza Stark Tag for review tag was added to gene: ARSA. Tag treatable tag was added to gene: ARSA. Tag clinical trial tag was added to gene: ARSA.
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.125	ARSA	Zornitza Stark reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.125	ARPC1B	Zornitza Stark changed review comment from: Established gene-disease association, 3 families and functional data. Severe disorder with onset in infancy/childhood. Recurrent infections and inflammatory features such as vasculitis and eczema. Treatable: bone marrow transplant.; to: Established gene-disease association, 9 families and functional data. Severe disorder with onset in infancy/childhood. Recurrent infections and inflammatory features such as vasculitis and eczema. Treatable: bone marrow transplant.
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.125	ARPC1B	Zornitza Stark Tag treatable tag was added to gene: ARPC1B.
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.125	ARPC1B	Zornitza Stark reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28368018, 33679784; Phenotypes: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, MIM# 617718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.125	ARMC4	Zornitza Stark Marked gene: ARMC4 as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.125	ARMC4	Zornitza Stark Gene: armc4 has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.125	ARMC4	Zornitza Stark Phenotypes for gene: ARMC4 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 23, MIM# 615451
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.124	ARMC4	Zornitza Stark Classified gene: ARMC4 as Red List (low evidence)
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.124	ARMC4	Zornitza Stark Gene: armc4 has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.123	ARMC4	Zornitza Stark reviewed gene: ARMC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 23, MIM# 615451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.123	ARFGEF2	Zornitza Stark Marked gene: ARFGEF2 as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.123	ARFGEF2	Zornitza Stark Gene: arfgef2 has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.123	ARFGEF2	Zornitza Stark Phenotypes for gene: ARFGEF2 were changed from Periventricular heterotopia with microcephaly to Periventricular heterotopia with microcephaly (MIM#608097)
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.122	ARFGEF2	Zornitza Stark Classified gene: ARFGEF2 as Red List (low evidence)
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.122	ARFGEF2	Zornitza Stark Gene: arfgef2 has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.121	ARFGEF2	Zornitza Stark reviewed gene: ARFGEF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.121	AR	Zornitza Stark Marked gene: AR as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.121	AR	Zornitza Stark Gene: ar has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.121	AR	Zornitza Stark Phenotypes for gene: AR were changed from Androgen insensitivity, MIM# 300068 to Hypospadias 1, X-linked MIM#30063; Androgen insensitivity MIM#300068; Androgen insensitivity, partial, with or without breast cancer MIM#312300
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.120	AR	Zornitza Stark Classified gene: AR as Red List (low evidence)
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.120	AR	Zornitza Stark Gene: ar has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.119	AR	Zornitza Stark reviewed gene: AR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypospadias 1, X-linked MIM#30063, Androgen insensitivity MIM#300068, Androgen insensitivity, partial, with or without breast cancer MIM#312300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.119	AVPR2	Zornitza Stark changed review comment from: Well established gene-disease association. Onset in infancy. Causes severe dehydration, can be life-threatening. Treatment: hydration, low-salt, low-protein diet, thiazide diuretics, amiloride, indomethacin. Clinical trials.; to: Well established gene-disease association. Onset in infancy. Causes severe dehydration, can be life-threatening. Treatment: hydration, low-salt, low-protein diet, thiazide diuretics, amiloride, indomethacin. Clinical trials. Around 10% of variants are large deletions.
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.119	AVPR2	Zornitza Stark Tag SV/CNV tag was added to gene: AVPR2.
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.119	AVP	Zornitza Stark Marked gene: AVP as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.119	AVP	Zornitza Stark Gene: avp has been classified as Green List (High Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.119	AVP	Zornitza Stark Classified gene: AVP as Green List (high evidence)
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.119	AVP	Zornitza Stark Gene: avp has been classified as Green List (High Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.118	AVP	Zornitza Stark gene: AVP was added gene: AVP was added to gNBS. Sources: Expert Review treatable, clinical trial tags were added to gene: AVP. Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AVP were set to 32052034; 31238300 Phenotypes for gene: AVP were set to Diabetes insipidus, neurohypophyseal MIM#125700 Review for gene: AVP was set to GREEN Added comment: Well established gene-disease association. Onset in childhood with polydipsia and polyuria. Can be life-threatening. Treatment: DDAVP. Clinical trials. Sources: Expert Review
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.117	AVPR2	Zornitza Stark Marked gene: AVPR2 as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.117	AVPR2	Zornitza Stark Gene: avpr2 has been classified as Green List (High Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.117	AVPR2	Zornitza Stark Tag treatable tag was added to gene: AVPR2. Tag clinical trial tag was added to gene: AVPR2.
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.117	AVPR2	Zornitza Stark reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic, 1 304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.117	AQP2	Zornitza Stark Marked gene: AQP2 as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.117	AQP2	Zornitza Stark Gene: aqp2 has been classified as Green List (High Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.117	AQP2	Zornitza Stark Publications for gene: AQP2 were set to
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.116	AQP2	Zornitza Stark Tag treatable tag was added to gene: AQP2. Tag clinical trial tag was added to gene: AQP2.
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.116	AQP2	Zornitza Stark reviewed gene: AQP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7537761, 11536078; Phenotypes: Diabetes insipidus, nephrogenic, MIM#125800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.116	AMN	Zornitza Stark Tag treatable tag was added to gene: AMN.
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.116	APTX	Zornitza Stark Marked gene: APTX as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.116	APTX	Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.116	APTX	Zornitza Stark Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.115	APTX	Zornitza Stark Publications for gene: APTX were set to
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.114	APTX	Zornitza Stark Classified gene: APTX as Red List (low evidence)
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.114	APTX	Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.113	APTX	Zornitza Stark reviewed gene: APTX: Rating: RED; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.113	APRT	Zornitza Stark Marked gene: APRT as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.113	APRT	Zornitza Stark Gene: aprt has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.113	APRT	Zornitza Stark Classified gene: APRT as Red List (low evidence)
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.113	APRT	Zornitza Stark Gene: aprt has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.112	APRT	Zornitza Stark Tag for review tag was added to gene: APRT. Tag treatable tag was added to gene: APRT.
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.112	APRT	Zornitza Stark reviewed gene: APRT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenine phosphoribosyltransferase deficiency MIM#614723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.112	APOB	Zornitza Stark Marked gene: APOB as ready
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.112	APOB	Zornitza Stark Gene: apob has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.112	APOB	Zornitza Stark Phenotypes for gene: APOB were changed from Hypercholesterolemia, familial, 2, MIM# 144010 to Hypercholesterolaemia, familial, 2, MIM# 144010
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.111	APOB	Zornitza Stark Phenotypes for gene: APOB were changed from Apolipoprotein B deficiency to Hypercholesterolemia, familial, 2, MIM# 144010
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.110	APOB	Zornitza Stark Mode of inheritance for gene: APOB was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.109	APOB	Zornitza Stark Classified gene: APOB as Red List (low evidence)
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.109	APOB	Zornitza Stark Gene: apob has been classified as Red List (Low Evidence).
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.108	APOB	Zornitza Stark Tag for review tag was added to gene: APOB. Tag treatable tag was added to gene: APOB.
22 Sep 2022	Genomic newborn screening: BabyScreen+ v0.108	APOB	Zornitza Stark reviewed gene: APOB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 2, MIM# 144010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.107	ARID1B	Zornitza Stark Marked gene: ARID1B as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.107	ARID1B	Zornitza Stark Gene: arid1b has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.107	ARID1B	Zornitza Stark Phenotypes for gene: ARID1B were changed from Coffin-Siris syndrome to Coffin-Siris syndrome 1 MIM#135900
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.106	ARID1B	Zornitza Stark Classified gene: ARID1B as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.106	ARID1B	Zornitza Stark Gene: arid1b has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.105	ARID1B	Zornitza Stark reviewed gene: ARID1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 1 MIM#135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.105	APC	Zornitza Stark Marked gene: APC as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.105	APC	Zornitza Stark Gene: apc has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.105	APC	Zornitza Stark Phenotypes for gene: APC were changed from Adenomatous polyposis coli; Adenomatous polyposis coli, attenuated to Adenomatous polyposis coli, MIM# 175100
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.104	APC	Zornitza Stark Classified gene: APC as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.104	APC	Zornitza Stark Gene: apc has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.103	APC	Zornitza Stark Tag treatable tag was added to gene: APC.
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.103	APC	Zornitza Stark Tag for review tag was added to gene: APC.
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.103	APC	Zornitza Stark reviewed gene: APC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomatous polyposis coli, MIM# 175100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.103	AP4M1	Zornitza Stark Marked gene: AP4M1 as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.103	AP4M1	Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.103	AP4M1	Zornitza Stark Classified gene: AP4M1 as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.103	AP4M1	Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.102	AP4M1	Zornitza Stark reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.102	AP4E1	Zornitza Stark Marked gene: AP4E1 as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.102	AP4E1	Zornitza Stark Gene: ap4e1 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.102	AP4E1	Zornitza Stark Classified gene: AP4E1 as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.102	AP4E1	Zornitza Stark Gene: ap4e1 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.101	AP4E1	Zornitza Stark reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.101	AP4B1	Zornitza Stark Marked gene: AP4B1 as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.101	AP4B1	Zornitza Stark Gene: ap4b1 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.101	AP4B1	Zornitza Stark Classified gene: AP4B1 as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.101	AP4B1	Zornitza Stark Gene: ap4b1 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.100	AP4B1	Zornitza Stark reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.100	AP3B1	Zornitza Stark Marked gene: AP3B1 as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.100	AP3B1	Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.100	AP3B1	Zornitza Stark Phenotypes for gene: AP3B1 were changed from Hermansky-Pudlak syndrome 2 to Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.99	AP3B1	Zornitza Stark Tag treatable tag was added to gene: AP3B1. Tag clinical trial tag was added to gene: AP3B1.
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.99	AP3B1	Zornitza Stark reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.97	ANTXR2	Zornitza Stark Marked gene: ANTXR2 as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.97	ANTXR2	Zornitza Stark Gene: antxr2 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.97	ANTXR2	Zornitza Stark Phenotypes for gene: ANTXR2 were changed from Hyaline fibromatosis syndrome to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.96	ANTXR2	Zornitza Stark Classified gene: ANTXR2 as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.96	ANTXR2	Zornitza Stark Gene: antxr2 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.95	ANTXR2	Zornitza Stark reviewed gene: ANTXR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.95	ANO10	Zornitza Stark Marked gene: ANO10 as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.95	ANO10	Zornitza Stark Gene: ano10 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.95	ANO10	Zornitza Stark Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10 to Spinocerebellar ataxia, autosomal recessive 10, MIM#613728
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.94	ANO10	Zornitza Stark Classified gene: ANO10 as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.94	ANO10	Zornitza Stark Gene: ano10 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.93	ANO10	Zornitza Stark reviewed gene: ANO10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, MIM#613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.93	ANKRD26	Zornitza Stark Marked gene: ANKRD26 as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.93	ANKRD26	Zornitza Stark Gene: ankrd26 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.93	ANKRD26	Zornitza Stark Phenotypes for gene: ANKRD26 were changed from Thrombocytopenia 2 to Thrombocytopaenia 2, MIM# 188000
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.92	ANKRD26	Zornitza Stark Classified gene: ANKRD26 as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.92	ANKRD26	Zornitza Stark Gene: ankrd26 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.91	ANKRD26	Zornitza Stark reviewed gene: ANKRD26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.91	ANKH	Zornitza Stark Marked gene: ANKH as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.91	ANKH	Zornitza Stark Gene: ankh has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.91	ANKH	Zornitza Stark Phenotypes for gene: ANKH were changed from Craniometaphyseal dysplasia to Craniometaphyseal dysplasia MIM#123000
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.90	ANKH	Zornitza Stark Classified gene: ANKH as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.90	ANKH	Zornitza Stark Gene: ankh has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.89	ANKH	Zornitza Stark reviewed gene: ANKH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniometaphyseal dysplasia MIM#123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.89	ANK2	Zornitza Stark Marked gene: ANK2 as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.89	ANK2	Zornitza Stark Gene: ank2 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.89	ANK2	Zornitza Stark Classified gene: ANK2 as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.89	ANK2	Zornitza Stark Gene: ank2 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.88	ANK2	Zornitza Stark reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.88	ANK1	Zornitza Stark Marked gene: ANK1 as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.88	ANK1	Zornitza Stark Gene: ank1 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.88	ANK1	Zornitza Stark Phenotypes for gene: ANK1 were changed from Spherocytosis to Spherocytosis, type 1 MIM#182900
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.87	ANK1	Zornitza Stark Mode of inheritance for gene: ANK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.86	ANK1	Zornitza Stark Classified gene: ANK1 as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.86	ANK1	Zornitza Stark Gene: ank1 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.85	ANK1	Zornitza Stark edited their review of gene: ANK1: Changed rating: RED
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.85	ANK1	Zornitza Stark reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spherocytosis, type 1 MIM#182900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.85	AMT	Zornitza Stark Marked gene: AMT as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.85	AMT	Zornitza Stark Gene: amt has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.85	AMT	Zornitza Stark Phenotypes for gene: AMT were changed from Hyperglycinaemia, non-ketotic to Glycine encephalopathy MIM#605899
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.84	AMT	Zornitza Stark Classified gene: AMT as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.84	AMT	Zornitza Stark Gene: amt has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.83	AMT	Zornitza Stark reviewed gene: AMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycine encephalopathy MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.83	AMN	Zornitza Stark edited their review of gene: AMN: Changed phenotypes: Megaloblastic anaemia-1, Norwegian type, MIM#618882
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.83	AMN	Zornitza Stark Marked gene: AMN as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.83	AMN	Zornitza Stark Gene: amn has been classified as Green List (High Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.83	AMN	Zornitza Stark Tag for review tag was added to gene: AMN.
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.83	AMN	Zornitza Stark changed review comment from: Well established gene-disease association. Imerslund-Grasbeck syndrome-2 (IGS2) is an autosomal recessive disorder characterized by onset of megaloblastic anaemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood.; to: Well established gene-disease association. Imerslund-Grasbeck syndrome-2 (IGS2) is an autosomal recessive disorder characterized by onset of megaloblastic anaemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Clinical features include failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment: cobalamin.
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.83	AMN	Zornitza Stark reviewed gene: AMN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.83	ALPL	Zornitza Stark Marked gene: ALPL as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.83	ALPL	Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.83	ALPL	Zornitza Stark Phenotypes for gene: ALPL were changed from Hypophosphatasia, MIM#241500 to Hypophosphatasia, childhood OMIM#241510; Hypophosphatasia, infantile OMIM#241500
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.82	ALPL	Zornitza Stark Publications for gene: ALPL were set to
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.81	ALPL	Zornitza Stark Tag treatable tag was added to gene: ALPL.
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.81	ALPL	Zornitza Stark edited their review of gene: ALPL: Changed publications: 31413732, 30811537
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.81	ALPL	Zornitza Stark reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatasia, childhood OMIM#241510, Hypophosphatasia, infantile OMIM#241500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.81	AMELX	Zornitza Stark Marked gene: AMELX as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.81	AMELX	Zornitza Stark Gene: amelx has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.81	AMELX	Zornitza Stark Phenotypes for gene: AMELX were changed from Amelogenesis imperfecta to Amelogenesis imperfecta, type 1E, MIM# 301200
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.80	AMELX	Zornitza Stark Classified gene: AMELX as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.80	AMELX	Zornitza Stark Gene: amelx has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.79	AMELX	Zornitza Stark reviewed gene: AMELX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amelogenesis imperfecta, type 1E, MIM# 301200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.79	ALX4	Zornitza Stark Marked gene: ALX4 as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.79	ALX4	Zornitza Stark Gene: alx4 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.79	ALX4	Zornitza Stark Phenotypes for gene: ALX4 were changed from Parietal foramina 2 to Frontonasal dysplasia 2 MIM# 613451; Parietal foramina 2 MIM# 609597; {Craniosynostosis 5, susceptibility to} MIM#615529
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.78	ALX4	Zornitza Stark Mode of inheritance for gene: ALX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.77	ALX4	Zornitza Stark Classified gene: ALX4 as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.77	ALX4	Zornitza Stark Gene: alx4 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.76	ALX4	Zornitza Stark reviewed gene: ALX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontonasal dysplasia 2 MIM# 613451, Parietal foramina 2 MIM# 609597, {Craniosynostosis 5, susceptibility to} MIM#615529; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.76	ALOXE3	Zornitza Stark Marked gene: ALOXE3 as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.76	ALOXE3	Zornitza Stark Gene: aloxe3 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.76	ALOXE3	Zornitza Stark Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 3, MIM#606545
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.75	ALOXE3	Zornitza Stark Classified gene: ALOXE3 as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.75	ALOXE3	Zornitza Stark Gene: aloxe3 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.74	ALOXE3	Zornitza Stark reviewed gene: ALOXE3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 3, MIM#606545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.74	ALS2	Zornitza Stark Marked gene: ALS2 as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.74	ALS2	Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.74	ALS2	Zornitza Stark Phenotypes for gene: ALS2 were changed from Amyotrophic lateral sclerosis to Infantile onset ascending spastic paralysis (MIM#607225); Juvenile amyotrophic lateral sclerosis 2 (MIM#205100); Juvenile primary lateral sclerosis (MIM#606353)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.73	ALS2	Zornitza Stark Classified gene: ALS2 as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.73	ALS2	Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.72	ALS2	Zornitza Stark reviewed gene: ALS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile onset ascending spastic paralysis (MIM#607225), Juvenile amyotrophic lateral sclerosis 2 (MIM#205100), Juvenile primary lateral sclerosis (MIM#606353); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.72	ALOX12B	Zornitza Stark Marked gene: ALOX12B as ready
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.72	ALOX12B	Zornitza Stark Gene: alox12b has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.72	ALOX12B	Zornitza Stark Phenotypes for gene: ALOX12B were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.71	ALOX12B	Zornitza Stark Classified gene: ALOX12B as Red List (low evidence)
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.71	ALOX12B	Zornitza Stark Gene: alox12b has been classified as Red List (Low Evidence).
21 Sep 2022	Genomic newborn screening: BabyScreen+ v0.70	ALOX12B	Zornitza Stark reviewed gene: ALOX12B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.70	ALG14	Zornitza Stark Marked gene: ALG14 as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.70	ALG14	Zornitza Stark Gene: alg14 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.70	ALG14	Zornitza Stark Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227 to 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
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.69	ALG14	Zornitza Stark Classified gene: ALG14 as Red List (low evidence)
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.69	ALG14	Zornitza Stark Gene: alg14 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.68	ALG14	Zornitza Stark Tag for review tag was added to gene: ALG14.
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.68	ALG14	Zornitza Stark reviewed gene: ALG14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.68	AKR1D1	Zornitza Stark Marked gene: AKR1D1 as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.68	AKR1D1	Zornitza Stark Gene: akr1d1 has been classified as Green List (High Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.68	AK2	Zornitza Stark Marked gene: AK2 as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.68	AK2	Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.68	ADGRG1	Zornitza Stark Marked gene: ADGRG1 as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.68	ADGRG1	Zornitza Stark Gene: adgrg1 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.68	ADGRG1	Zornitza Stark Phenotypes for gene: ADGRG1 were changed from Polymicrogyria, bilateral frontoparietal to Polymicrogyria, bilateral frontoparietal, MIM#606854
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.67	ADGRG1	Zornitza Stark Classified gene: ADGRG1 as Red List (low evidence)
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.67	ADGRG1	Zornitza Stark Gene: adgrg1 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.66	ADGRG1	Zornitza Stark reviewed gene: ADGRG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polymicrogyria, bilateral frontoparietal, MIM#606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.66	ADAMTS13	Zornitza Stark Publications for gene: ADAMTS13 were set to
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.65	ADAMTS13	Zornitza Stark edited their review of gene: ADAMTS13: Changed publications: 31759790
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.65	ADAMTS13	Zornitza Stark Tag treatable tag was added to gene: ADAMTS13.
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.65	ADAMTS13	Zornitza Stark Marked gene: ADAMTS13 as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.65	ADAMTS13	Zornitza Stark Gene: adamts13 has been classified as Green List (High Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.65	ADAMTS13	Zornitza Stark reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.65	AK2	Zornitza Stark Tag treatable tag was added to gene: AK2.
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.65	AK2	Zornitza Stark Phenotypes for gene: AK2 were changed from Reticular dysgenesis, MIM# 267500 to Reticular dysgenesis, MIM# 267500; MONDO:0009973
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.64	AK2	Zornitza Stark Publications for gene: AK2 were set to
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.63	AK2	Zornitza Stark reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043416, 19043417; Phenotypes: Reticular dysgenesis, MIM# 267500, MONDO:0009973; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.63	AGRN	Zornitza Stark Marked gene: AGRN as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.63	AGRN	Zornitza Stark Gene: agrn has been classified as Green List (High Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.63	AGRN	Zornitza Stark Phenotypes for gene: AGRN were changed from Myasthenia, limb-girdle, familial, MIM#615120 to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.62	AGRN	Zornitza Stark Tag clinical trial tag was added to gene: AGRN.
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.62	AGRN	Zornitza Stark Tag treatable tag was added to gene: AGRN.
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.62	AGRN	Zornitza Stark changed review comment from: Three unrelated families reported. Severe, congenital disorder. Treatment available: salbutamol, acetylcholine-esterase inhibitors.; to: Three unrelated families reported. Severe, congenital disorder. Treatment available: salbutamol, acetylcholine-esterase inhibitors. Clinical trial: 3,4-Diaminopyridine.
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.62	AGRN	Zornitza Stark reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.62	ADA	Zornitza Stark Marked gene: ADA as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.62	ADA	Zornitza Stark Gene: ada has been classified as Green List (High Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.62	ADA	Zornitza Stark Phenotypes for gene: ADA were changed from Severe combined immunodeficiency due to ADA deficiency, MIM#102700 to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.61	ADA	Zornitza Stark Publications for gene: ADA were set to
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.60	ADA	Zornitza Stark Tag treatable tag was added to gene: ADA. Tag clinical trial tag was added to gene: ADA.
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.60	ADA	Zornitza Stark reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 33974366; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.60	ACTN1	Zornitza Stark Marked gene: ACTN1 as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.60	ACTN1	Zornitza Stark Gene: actn1 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.60	ACTN1	Zornitza Stark Phenotypes for gene: ACTN1 were changed from Macrothrombocytopenia to Bleeding disorder, platelet-type, 15, MIM# 615193
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.59	ACTN1	Zornitza Stark Classified gene: ACTN1 as Red List (low evidence)
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.59	ACTN1	Zornitza Stark Gene: actn1 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.58	ACTN1	Zornitza Stark reviewed gene: ACTN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bleeding disorder, platelet-type, 15, MIM# 615193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.58	ABCG5	Zornitza Stark Marked gene: ABCG5 as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.58	ABCG5	Zornitza Stark Gene: abcg5 has been classified as Green List (High Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.58	ABCG5	Zornitza Stark Phenotypes for gene: ABCG5 were changed from Sitosterolemia to Sitosterolaemia 2, MIM# 618666
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.57	ABCG5	Zornitza Stark Tag treatable tag was added to gene: ABCG5. Tag clinical trial tag was added to gene: ABCG5.
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.57	ABCG5	Zornitza Stark reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sitosterolaemia 2, MIM# 618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.57	ABCD1	Zornitza Stark Marked gene: ABCD1 as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.57	ABCD1	Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.57	ABCD1	Zornitza Stark Tag for review tag was added to gene: ABCD1.
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.57	ABCD1	Zornitza Stark Phenotypes for gene: ABCD1 were changed from Adrenoleukodystrophy to Adrenoleukodystrophy, MIM# 300100
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.56	ABCD1	Zornitza Stark Tag treatable tag was added to gene: ABCD1.
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.56	ABCD1	Zornitza Stark reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenoleukodystrophy, MIM# 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.56	ABCC6	Zornitza Stark Marked gene: ABCC6 as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.56	ABCC6	Zornitza Stark Gene: abcc6 has been classified as Green List (High Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.56	ABCC6	Zornitza Stark Tag for review tag was added to gene: ABCC6.
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.56	ABCC6	Zornitza Stark changed review comment from: Well established gene-disease association. Severe disorder with onset in infancy, can be fatal. Treatment available: etidronate.; to: Well established gene-disease association. Severe disorder with onset in infancy, can be fatal. Treatment available: etidronate. However, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder. There are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.56	ABCC6	Zornitza Stark Publications for gene: ABCC6 were set to
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.55	ABCC6	Zornitza Stark Tag treatable tag was added to gene: ABCC6.
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.55	ABCC6	Zornitza Stark reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33005041, 34355424; Phenotypes: Arterial calcification, generalized, of infancy, 2, MIM# 614473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.55	ABCC2	Zornitza Stark Marked gene: ABCC2 as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.55	ABCC2	Zornitza Stark Gene: abcc2 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.55	ABCC2	Zornitza Stark Classified gene: ABCC2 as Red List (low evidence)
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.55	ABCC2	Zornitza Stark Gene: abcc2 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.54	ABCC2	Zornitza Stark reviewed gene: ABCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dubin-Johnson syndrome, MIM# 237500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.54	ABCB4	Zornitza Stark Marked gene: ABCB4 as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.54	ABCB4	Zornitza Stark Gene: abcb4 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.54	ABCB4	Zornitza Stark Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3 to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism; Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972); Gallbladder disease 1 (MIM#600803)
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.53	ABCB4	Zornitza Stark Mode of inheritance for gene: ABCB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.52	ABCB4	Zornitza Stark Classified gene: ABCB4 as Red List (low evidence)
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.52	ABCB4	Zornitza Stark Gene: abcb4 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.51	ABCB4	Zornitza Stark reviewed gene: ABCB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 3 MIM#602347, disorder of bile acid metabolism, Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972), Gallbladder disease 1 (MIM#600803); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.51	ABCB11	Zornitza Stark Marked gene: ABCB11 as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.51	ABCB11	Zornitza Stark Gene: abcb11 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.51	ABCB11	Zornitza Stark Phenotypes for gene: ABCB11 were changed from Cholestasis, progressive familial intrahepatic 2 to Cholestasis, progressive familial intrahepatic 2, MIM# 601847; Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.50	ABCB11	Zornitza Stark Classified gene: ABCB11 as Red List (low evidence)
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.50	ABCB11	Zornitza Stark Gene: abcb11 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.49	ABCB11	Zornitza Stark reviewed gene: ABCB11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 2, MIM# 601847, Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.49	ABCA4	Zornitza Stark Marked gene: ABCA4 as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.49	ABCA4	Zornitza Stark Gene: abca4 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.49	ABCA4	Zornitza Stark Phenotypes for gene: ABCA4 were changed from Stargardt disease to Cone-rod dystrophy 3, 604116; Fundus flavimaculatus, 248200; Retinal dystrophy, early-onset severe, 248200; Retinitis pigmentosa 19, 601718; Stargardt disease 1, 248200
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.48	ABCA4	Zornitza Stark Classified gene: ABCA4 as Red List (low evidence)
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.48	ABCA4	Zornitza Stark Gene: abca4 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.47	ABCA4	Zornitza Stark reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.47	ABCA3	Zornitza Stark Marked gene: ABCA3 as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.47	ABCA3	Zornitza Stark Gene: abca3 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.47	ABCA3	Zornitza Stark Phenotypes for gene: ABCA3 were changed from Surfactant metabolism dysfunction, pulmonary, 3 to Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.46	ABCA3	Zornitza Stark Classified gene: ABCA3 as Red List (low evidence)
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.46	ABCA3	Zornitza Stark Gene: abca3 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.45	ABCA3	Zornitza Stark reviewed gene: ABCA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.45	ABCA12	Zornitza Stark Marked gene: ABCA12 as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.45	ABCA12	Zornitza Stark Gene: abca12 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.45	ABCA12	Zornitza Stark Phenotypes for gene: ABCA12 were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 4A (MIM#601277); Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.44	ABCA12	Zornitza Stark Classified gene: ABCA12 as Red List (low evidence)
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.44	ABCA12	Zornitza Stark Gene: abca12 has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.43	ABCA12	Zornitza Stark reviewed gene: ABCA12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 4A (MIM#601277), Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.43	AARS	Zornitza Stark Marked gene: AARS as ready
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.43	AARS	Zornitza Stark Gene: aars has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.43	AARS	Zornitza Stark Phenotypes for gene: AARS were changed from Charcot-Marie-Tooth disease to Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.42	AARS	Zornitza Stark Mode of inheritance for gene: AARS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.41	AARS	Zornitza Stark Classified gene: AARS as Red List (low evidence)
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.41	AARS	Zornitza Stark Gene: aars has been classified as Red List (Low Evidence).
20 Sep 2022	Genomic newborn screening: BabyScreen+ v0.40	AARS	Zornitza Stark reviewed gene: AARS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 29, MIM# 616339, Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.40	AAAS	Zornitza Stark Marked gene: AAAS as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.40	AAAS	Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.40	AAAS	Zornitza Stark Phenotypes for gene: AAAS were changed from Achalasia-addisonianism-alacrimia syndrome to Achalasia-addisonianism-alacrimia syndrome, MIM#231550
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.39	AAAS	Zornitza Stark Publications for gene: AAAS were set to
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.38	AAAS	Zornitza Stark Tag for review tag was added to gene: AAAS.
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.38	AAAS	Zornitza Stark reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29255950; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.38	ALDH7A1	Zornitza Stark Marked gene: ALDH7A1 as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.38	ALDH7A1	Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.38	ALDH7A1	Zornitza Stark Publications for gene: ALDH7A1 were set to
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.37	ALDH7A1	Zornitza Stark Tag treatable tag was added to gene: ALDH7A1.
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.37	ALDH7A1	Zornitza Stark reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33200442; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.37	ALDH5A1	Zornitza Stark Marked gene: ALDH5A1 as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.37	ALDH5A1	Zornitza Stark Gene: aldh5a1 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.37	ALDH5A1	Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.36	ALDH5A1	Zornitza Stark Classified gene: ALDH5A1 as Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.36	ALDH5A1	Zornitza Stark Gene: aldh5a1 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.35	ALDH5A1	Zornitza Stark reviewed gene: ALDH5A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.35	ALDH3A2	Zornitza Stark Marked gene: ALDH3A2 as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.35	ALDH3A2	Zornitza Stark Gene: aldh3a2 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.35	ALDH3A2	Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome to Sjogren-Larsson syndrome MIM#270200
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.34	ALDH3A2	Zornitza Stark Classified gene: ALDH3A2 as Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.34	ALDH3A2	Zornitza Stark Gene: aldh3a2 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.33	ALDH3A2	Zornitza Stark reviewed gene: ALDH3A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sjogren-Larsson syndrome MIM#270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.33	ALDH18A1	Zornitza Stark Marked gene: ALDH18A1 as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.33	ALDH18A1	Zornitza Stark Gene: aldh18a1 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.33	ALDH18A1	Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA to 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
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.32	ALDH18A1	Zornitza Stark Mode of inheritance for gene: ALDH18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.31	ALDH18A1	Zornitza Stark Classified gene: ALDH18A1 as Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.31	ALDH18A1	Zornitza Stark Gene: aldh18a1 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.30	ALDH18A1	Zornitza Stark reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 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; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.30	ALB	Zornitza Stark Marked gene: ALB as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.30	ALB	Zornitza Stark Gene: alb has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.30	ALB	Zornitza Stark Phenotypes for gene: ALB were changed from Analbuminemia to Analbuminemia, MIM# 616000
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.29	ALB	Zornitza Stark Classified gene: ALB as Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.29	ALB	Zornitza Stark Gene: alb has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.28	ALB	Zornitza Stark reviewed gene: ALB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Analbuminemia, MIM# 616000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.28	ALAS2	Zornitza Stark Marked gene: ALAS2 as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.28	ALAS2	Zornitza Stark Gene: alas2 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.28	ALAS2	Zornitza Stark Phenotypes for gene: ALAS2 were changed from Anemia, sideroblastic, X-linked to Anaemia, sideroblastic, 1, MIM# 300751; Protoporphyria, erythropoietic, X-linked, MIM# 300752
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.27	ALAS2	Zornitza Stark Classified gene: ALAS2 as Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.27	ALAS2	Zornitza Stark Gene: alas2 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.26	ALAS2	Zornitza Stark Tag for review tag was added to gene: ALAS2.
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.26	ALAS2	Zornitza Stark reviewed gene: ALAS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anaemia, sideroblastic, 1, MIM# 300751, Protoporphyria, erythropoietic, X-linked, MIM# 300752; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.26	AKR1D1	Zornitza Stark Tag for review tag was added to gene: AKR1D1. Tag treatable tag was added to gene: AKR1D1.
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.26	AKR1D1	Zornitza Stark reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12970144, 20522910, 30373615; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.26	AIRE	Zornitza Stark Marked gene: AIRE as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.26	AIRE	Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.26	AIRE	Zornitza Stark Phenotypes for gene: AIRE were changed from Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.25	AIRE	Zornitza Stark Tag for review tag was added to gene: AIRE. Tag treatable tag was added to gene: AIRE.
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.25	AIRE	Zornitza Stark reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: 32557834; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.25	AIFM1	Zornitza Stark Marked gene: AIFM1 as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.25	AIFM1	Zornitza Stark Gene: aifm1 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.25	AIFM1	Zornitza Stark Phenotypes for gene: AIFM1 were changed from Cowchock syndrome to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.24	AIFM1	Zornitza Stark Classified gene: AIFM1 as Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.24	AIFM1	Zornitza Stark Gene: aifm1 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.23	AIFM1	Zornitza Stark reviewed gene: AIFM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Deafness, X-linked 5, 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.23	AHI1	Zornitza Stark Marked gene: AHI1 as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.23	AHI1	Zornitza Stark Gene: ahi1 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.23	AHI1	Zornitza Stark Phenotypes for gene: AHI1 were changed from Joubert syndrome-3 to Joubert syndrome 3, MIM# 608629
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.22	AHI1	Zornitza Stark Publications for gene: AHI1 were set to
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.21	AHI1	Zornitza Stark Classified gene: AHI1 as Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.21	AHI1	Zornitza Stark Gene: ahi1 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.20	AHI1	Zornitza Stark reviewed gene: AHI1: Rating: RED; Mode of pathogenicity: None; Publications: 15322546, 15467982, 16155189; Phenotypes: Joubert syndrome 3, MIM# 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.20	AGXT	Zornitza Stark Marked gene: AGXT as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.20	AGXT	Zornitza Stark Gene: agxt has been classified as Green List (High Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.20	AGXT	Zornitza Stark Phenotypes for gene: AGXT were changed from Hyperoxaluria, primary, type 1 to Hyperoxaluria, primary, type 1, MIM# 259900, MONDO:0009823
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.19	AGXT	Zornitza Stark Publications for gene: AGXT were set to
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.18	AGXT	Zornitza Stark Tag for review tag was added to gene: AGXT. Tag treatable tag was added to gene: AGXT. Tag clinical trial tag was added to gene: AGXT.
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.18	AGXT	Zornitza Stark reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: None; Publications: 33789010; Phenotypes: Hyperoxaluria, primary, type 1, MIM# 259900, MONDO:0009823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.18	AGA	Zornitza Stark Marked gene: AGA as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.18	AGA	Zornitza Stark Gene: aga has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.18	AGA	Zornitza Stark Phenotypes for gene: AGA were changed from Aspartylglucosaminuria to Aspartylglucosaminuria, MIM# 208400 MONDO:0008830
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.17	AGA	Zornitza Stark Classified gene: AGA as Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.17	AGA	Zornitza Stark Gene: aga has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.16	AGA	Zornitza Stark reviewed gene: AGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aspartylglucosaminuria, MIM# 208400 MONDO:0008830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.16	ADK	Zornitza Stark Marked gene: ADK as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.16	ADK	Zornitza Stark Gene: adk has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.16	ADK	Zornitza Stark Phenotypes for gene: ADK were changed from Hypermethioninemia due to adenosine kinase deficiency to Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.15	ADK	Zornitza Stark Publications for gene: ADK were set to
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.14	ADK	Zornitza Stark Classified gene: ADK as Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.14	ADK	Zornitza Stark Gene: adk has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.13	ADK	Zornitza Stark reviewed gene: ADK: Rating: RED; Mode of pathogenicity: None; Publications: 21963049, 17120046, 33309011; Phenotypes: Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.13	ADAR	Zornitza Stark Marked gene: ADAR as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.13	ADAR	Zornitza Stark Gene: adar has been classified as Amber List (Moderate Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.13	ADAR	Zornitza Stark Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome; Dyschromatosis symmetrica hereditaria to Aicardi-Goutieres syndrome 6, MIM# 615010
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.12	ADAR	Zornitza Stark Publications for gene: ADAR were set to
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.11	ADAR	Zornitza Stark Mode of inheritance for gene: ADAR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.10	ADAR	Zornitza Stark Classified gene: ADAR as Amber List (moderate evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.10	ADAR	Zornitza Stark Gene: adar has been classified as Amber List (Moderate Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.9	ADAR	Zornitza Stark Tag for review tag was added to gene: ADAR. Tag treatable tag was added to gene: ADAR. Tag clinical trial tag was added to gene: ADAR.
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.9	ADAR	Zornitza Stark reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.9	ADAMTSL2	Zornitza Stark Marked gene: ADAMTSL2 as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.9	ADAMTSL2	Zornitza Stark Gene: adamtsl2 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.9	ADAMTSL2	Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 to Geleophysic dysplasia 1, MIM# 231050
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.8	ADAMTSL2	Zornitza Stark Classified gene: ADAMTSL2 as Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.8	ADAMTSL2	Zornitza Stark Gene: adamtsl2 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.7	ADAMTSL2	Zornitza Stark reviewed gene: ADAMTSL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Geleophysic dysplasia 1, MIM# 231050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.7	ACTN4	Zornitza Stark Marked gene: ACTN4 as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.7	ACTN4	Zornitza Stark Gene: actn4 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.7	ACTN4	Zornitza Stark Phenotypes for gene: ACTN4 were changed from Glomerulosclerosis, focal segmental, 1 to Glomerulosclerosis, focal segmental, 1, MIM#603278
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.6	ACTN4	Zornitza Stark Classified gene: ACTN4 as Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.6	ACTN4	Zornitza Stark Gene: actn4 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.5	ACTN4	Zornitza Stark reviewed gene: ACTN4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glomerulosclerosis, focal segmental, 1, MIM#603278; Mode of inheritance: None
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.5	ACTG2	Zornitza Stark Marked gene: ACTG2 as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.5	ACTG2	Zornitza Stark Gene: actg2 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.5	ACTG2	Zornitza Stark Phenotypes for gene: ACTG2 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome to Visceral myopathy, MIM#155310; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.4	ACTG2	Zornitza Stark Classified gene: ACTG2 as Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.4	ACTG2	Zornitza Stark Gene: actg2 has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.3	ACTG2	Zornitza Stark reviewed gene: ACTG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Visceral myopathy, MIM#155310, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.3	ACE	Zornitza Stark Marked gene: ACE as ready
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.3	ACE	Zornitza Stark Gene: ace has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.3	ACE	Zornitza Stark Phenotypes for gene: ACE were changed from Renal tubular dysgenesis to Renal tubular dysgenesis, MIM# 267430
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.2	ACE	Zornitza Stark Publications for gene: ACE were set to
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.1	ACE	Zornitza Stark Classified gene: ACE as Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.1	ACE	Zornitza Stark Gene: ace has been classified as Red List (Low Evidence).
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ACE	Zornitza Stark reviewed gene: ACE: Rating: RED; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ZNF674	Zornitza Stark gene: ZNF674 was added gene: ZNF674 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ZNF674 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZNF674 were set to Mental retardation
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ZNF252P	Zornitza Stark gene: ZNF252P was added gene: ZNF252P was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ZNF252P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZNF252P were set to Hypothyroidism
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ZFPM2	Zornitza Stark gene: ZFPM2 was added gene: ZFPM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZFPM2 were set to Tetralogy of Fallot
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	YARS2	Zornitza Stark gene: YARS2 was added gene: YARS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	WNT7A	Zornitza Stark gene: WNT7A was added gene: WNT7A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT7A were set to Ulna and fibula absence of with severe limb deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	WNT5A	Zornitza Stark gene: WNT5A was added gene: WNT5A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: WNT5A were set to Robinow syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	WNT3	Zornitza Stark gene: WNT3 was added gene: WNT3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT3 were set to Tetra-amelia, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	WNK1	Zornitza Stark gene: WNK1 was added gene: WNK1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type I
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	WDR36	Zornitza Stark gene: WDR36 was added gene: WDR36 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: WDR36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: WDR36 were set to Glaucoma
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	WDR35	Zornitza Stark gene: WDR35 was added gene: WDR35 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	WDR19	Zornitza Stark gene: WDR19 was added gene: WDR19 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to Nephronophthisis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	VSX1	Zornitza Stark gene: VSX1 was added gene: VSX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VSX1 were set to Keratoconus
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	VPS53	Zornitza Stark gene: VPS53 was added gene: VPS53 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS53 were set to Progressive cerebello-cerebral atrophy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	VAMP1	Zornitza Stark Source Expert Review Red was added to VAMP1. Source BabySeq Category C gene was added to VAMP1. Mode of inheritance for gene VAMP1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Spastic ataxia for gene: VAMP1 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	UTP4	Zornitza Stark gene: UTP4 was added gene: UTP4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: UTP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UTP4 were set to North American Indian childhood cirrhosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	UQCRQ	Zornitza Stark gene: UQCRQ was added gene: UQCRQ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	UQCRB	Zornitza Stark gene: UQCRB was added gene: UQCRB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	UGT1A5	Zornitza Stark gene: UGT1A5 was added gene: UGT1A5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: UGT1A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UGT1A5 were set to UDP glucuronosyltransferase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	UGT1A4	Zornitza Stark gene: UGT1A4 was added gene: UGT1A4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: UGT1A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UGT1A4 were set to Crigler-Najjar syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	UCP2	Zornitza Stark Source Expert Review Red was added to UCP2. Source BabySeq Category C gene was added to UCP2. Added phenotypes Hyperinsulinism for gene: UCP2 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	UBA1	Zornitza Stark gene: UBA1 was added gene: UBA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked infantile
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TUBA8	Zornitza Stark gene: TUBA8 was added gene: TUBA8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TSPYL1	Zornitza Stark gene: TSPYL1 was added gene: TSPYL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TSPEAR	Zornitza Stark gene: TSPEAR was added gene: TSPEAR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSPEAR were set to Sensorineural deafness
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TSFM	Zornitza Stark gene: TSFM was added gene: TSFM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TRPM2	Zornitza Stark gene: TRPM2 was added gene: TRPM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TRPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TRPM2 were set to ALS and Parkinson's disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TRIP11	Zornitza Stark gene: TRIP11 was added gene: TRIP11 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIP11 were set to Achondrogenesis type 1A
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TRHR	Zornitza Stark gene: TRHR was added gene: TRHR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TRHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRHR were set to Thyrotropin-releasing hormone resistance, generalized
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TRH	Zornitza Stark gene: TRH was added gene: TRH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TRH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRH were set to Thyrotropin-releasing hormone deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TRDN	Zornitza Stark gene: TRDN was added gene: TRDN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRDN were set to Catecholaminergic polymorphic ventricular tachycardia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TPRN	Zornitza Stark gene: TPRN was added gene: TPRN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TPRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPRN were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TNXB	Zornitza Stark gene: TNXB was added gene: TNXB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome due to tenascin X deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TMPO	Zornitza Stark gene: TMPO was added gene: TMPO was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TMPO were set to Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TMEM237	Zornitza Stark gene: TMEM237 was added gene: TMEM237 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM237 were set to Joubert syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TMEM216	Zornitza Stark gene: TMEM216 was added gene: TMEM216 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM216 were set to Joubert syndrome; Meckel syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TMC8	Zornitza Stark gene: TMC8 was added gene: TMC8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TMC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMC8 were set to Epidermodysplasia verruciformi
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TJP2	Zornitza Stark gene: TJP2 was added gene: TJP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TJP2 were set to Hypercholanemia, familial
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	THBS1	Zornitza Stark gene: THBS1 was added gene: THBS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: THBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: THBS1 were set to Pulmonary hypertension
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	THBD	Zornitza Stark gene: THBD was added gene: THBD was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: THBD were set to Haemolytic uraemic syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TGIF1	Zornitza Stark gene: TGIF1 was added gene: TGIF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGIF1 were set to Holoprosencephaly-4
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TGFB3	Zornitza Stark gene: TGFB3 was added gene: TGFB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TGFB1	Zornitza Stark gene: TGFB1 was added gene: TGFB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFB1 were set to Camurati-Engelmann disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TFR2	Zornitza Stark gene: TFR2 was added gene: TFR2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TFR2 were set to Hemochromatosis type 3
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TCTN3	Zornitza Stark gene: TCTN3 was added gene: TCTN3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN3 were set to Joubert syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TCTN1	Zornitza Stark gene: TCTN1 was added gene: TCTN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN1 were set to Joubert syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TCAP	Zornitza Stark gene: TCAP was added gene: TCAP was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCAP were set to Cardiomyopathy, dilated; Muscular dystrophy, limb-girdle, type 2G
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TBX20	Zornitza Stark gene: TBX20 was added gene: TBX20 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TBX20 were set to Congenital heart disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TBCE	Zornitza Stark gene: TBCE was added gene: TBCE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBCE were set to Hypoparathyroidism retardation dysmorphism syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TARDBP	Zornitza Stark gene: TARDBP was added gene: TARDBP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TARDBP were set to Amyotrophic lateral sclerosis type 10
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TAB2	Zornitza Stark gene: TAB2 was added gene: TAB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TAB2 were set to Congenital heart disease, nonsyndromic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SYT14	Zornitza Stark gene: SYT14 was added gene: SYT14 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYT14 were set to Spinocerebellar ataxia, autosomal recessive 11
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SYNE4	Zornitza Stark gene: SYNE4 was added gene: SYNE4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SYNE4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYNE4 were set to Hearing loss
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ST3GAL5	Zornitza Stark gene: ST3GAL5 was added gene: ST3GAL5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST3GAL5 were set to Amish infantile epilepsy syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ST14	Zornitza Stark gene: ST14 was added gene: ST14 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST14 were set to Ichthyosis hypotrichosis syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SPTLC2	Zornitza Stark gene: SPTLC2 was added gene: SPTLC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SP7	Zornitza Stark gene: SP7 was added gene: SP7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SOX18	Zornitza Stark gene: SOX18 was added gene: SOX18 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SOX18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SOD1	Zornitza Stark gene: SOD1 was added gene: SOD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SOD1 were set to Amyotrophic lateral sclerosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SNAP29	Zornitza Stark gene: SNAP29 was added gene: SNAP29 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SMO	Zornitza Stark gene: SMO was added gene: SMO was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMO were set to Medulloblastoma
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SMAD9	Zornitza Stark gene: SMAD9 was added gene: SMAD9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD9 were set to Pulmonary arterial hypertension
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SMAD6	Zornitza Stark gene: SMAD6 was added gene: SMAD6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD6 were set to Cardiovascular malformation, congenital
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SMAD1	Zornitza Stark gene: SMAD1 was added gene: SMAD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLCO1B3	Zornitza Stark gene: SLCO1B3 was added gene: SLCO1B3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLCO1B3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLCO1B3 were set to Hyperbilirubinemia, Rotor type, digenic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLCO1B1	Zornitza Stark gene: SLCO1B1 was added gene: SLCO1B1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLCO1B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLCO1B1 were set to Hyperbilirubinemia, Rotor type, digenic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC9A3R1	Zornitza Stark gene: SLC9A3R1 was added gene: SLC9A3R1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC6A2	Zornitza Stark gene: SLC6A2 was added gene: SLC6A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC6A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC6A2 were set to Orthostatic intolerance
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC4A4	Zornitza Stark gene: SLC4A4 was added gene: SLC4A4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC4A10	Zornitza Stark gene: SLC4A10 was added gene: SLC4A10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC4A10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC4A10 were set to Epilepsy & mental retardation
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC41A1	Zornitza Stark gene: SLC41A1 was added gene: SLC41A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC41A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC41A1 were set to 23661805 Phenotypes for gene: SLC41A1 were set to Nephronophthisis-like nephropathy 2, MIM# 619468
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC35C1	Zornitza Stark gene: SLC35C1 was added gene: SLC35C1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35C1 were set to Congenital disorder of glycosylation 2c
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC35A2	Zornitza Stark gene: SLC35A2 was added gene: SLC35A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC35A2 were set to Early-onset epileptic encephalopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC35A1	Zornitza Stark gene: SLC35A1 was added gene: SLC35A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35A1 were set to CDG syndrome type IIf
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC33A1	Zornitza Stark gene: SLC33A1 was added gene: SLC33A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC33A1 were set to Spastic paraplegia, autosomal dominant; Congenital cataracts, hearing loss and low serum copper and ceruloplasmin
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC27A5	Zornitza Stark gene: SLC27A5 was added gene: SLC27A5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC27A5 were set to Bile acid amidation defect
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC25A22	Zornitza Stark gene: SLC25A22 was added gene: SLC25A22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A22 were set to Early myoclonic encephalopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC25A12	Zornitza Stark gene: SLC25A12 was added gene: SLC25A12 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A12 were set to Hypomyelination, global cerebral
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC16A12	Zornitza Stark gene: SLC16A12 was added gene: SLC16A12 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC16A12 were set to Cataract, juvenile with microcornea and renal glucosuria
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC16A1	Zornitza Stark Source Expert Review Red was added to SLC16A1. Source BabySeq Category C gene was added to SLC16A1. Added phenotypes Monocarboxylate transporter 1 deficiency for gene: SLC16A1 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC12A5	Zornitza Stark gene: SLC12A5 was added gene: SLC12A5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC12A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC12A5 were set to Febrile seizures
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC11A2	Zornitza Stark gene: SLC11A2 was added gene: SLC11A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC11A2 were set to Anemia, hypochromic microcytic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SIX5	Zornitza Stark gene: SIX5 was added gene: SIX5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SIX5 were set to Branchiootorenal syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SIX2	Zornitza Stark gene: SIX2 was added gene: SIX2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SIX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SIX2 were set to Renal hypodysplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SHOC2	Zornitza Stark gene: SHOC2 was added gene: SHOC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SH3BP2	Zornitza Stark gene: SH3BP2 was added gene: SH3BP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SH3BP2 were set to Cherubism
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SFTPA2	Zornitza Stark gene: SFTPA2 was added gene: SFTPA2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SFTPA2 were set to Pulmonary fibrosis, idiopathic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SERPIND1	Zornitza Stark gene: SERPIND1 was added gene: SERPIND1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SERPIND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SERPIND1 were set to Heparin cofactor 2 deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SERPINC1	Zornitza Stark gene: SERPINC1 was added gene: SERPINC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SERPINC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SERPINC1 were set to Thrombophilia due to antithrombin III deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SERPINB6	Zornitza Stark gene: SERPINB6 was added gene: SERPINB6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SERPINB6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINB6 were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SEMA3A	Zornitza Stark gene: SEMA3A was added gene: SEMA3A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SEMA3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SEMA3A were set to Kallmann syndrome 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SEC63	Zornitza Stark gene: SEC63 was added gene: SEC63 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SEC63 were set to Polycystic liver disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCP2	Zornitza Stark gene: SCP2 was added gene: SCP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCP2 were set to Leukoencephalopathy - dystonia - motor neuropathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCO1	Zornitza Stark gene: SCO1 was added gene: SCO1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO1 were set to Hepatic failure, early onset, and neurologic disorder
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCNN1G	Zornitza Stark Source Expert Review Red was added to SCNN1G. Source BabySeq Category C gene was added to SCNN1G. Added phenotypes Pseudohypoaldosteronism for gene: SCNN1G Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCN4B	Zornitza Stark gene: SCN4B was added gene: SCN4B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SCN4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN4B were set to Long QT syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCN4A	Zornitza Stark Source Expert Review Red was added to SCN4A. Source BabySeq Category A gene was added to SCN4A. Source BabySeq Category C gene was added to SCN4A. Mode of inheritance for gene SCN4A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis, type 2 for gene: SCN4A Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCN3B	Zornitza Stark gene: SCN3B was added gene: SCN3B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SCN3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN3B were set to Brugada syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCN2B	Zornitza Stark gene: SCN2B was added gene: SCN2B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SCN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN2B were set to Atrial fibrillation
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCN1B	Zornitza Stark gene: SCN1B was added gene: SCN1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN1B were set to Brugada syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SC5D	Zornitza Stark gene: SC5D was added gene: SC5D was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SC5D were set to Lathosterolosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPS7	Zornitza Stark Source Expert Review Red was added to RPS7. Source BabySeq Category C gene was added to RPS7. Added phenotypes Diamond-Blackfan anemia for gene: RPS7 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPS10	Zornitza Stark Source Expert Review Red was added to RPS10. Source BabySeq Category C gene was added to RPS10. Added phenotypes Diamond-Blackfan anemia for gene: RPS10 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPL35A	Zornitza Stark Source Expert Review Red was added to RPL35A. Source BabySeq Category C gene was added to RPL35A. Added phenotypes Diamond-Blackfan anemia for gene: RPL35A Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RHAG	Zornitza Stark gene: RHAG was added gene: RHAG was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: RHAG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RHAG were set to Rh-deficiency syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RFX6	Zornitza Stark gene: RFX6 was added gene: RFX6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFX6 were set to Diabetes, neonatal, with intestinal atresia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RELN	Zornitza Stark gene: RELN was added gene: RELN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RELN were set to Lissencephaly syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RANGRF	Zornitza Stark gene: RANGRF was added gene: RANGRF was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: RANGRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RANGRF were set to Brugada syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RAD51B	Zornitza Stark gene: RAD51B was added gene: RAD51B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: RAD51B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAD51B were set to Breast and/or ovarian cancer
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RAB10	Zornitza Stark gene: RAB10 was added gene: RAB10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: RAB10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAB10 were set to Congenital heart disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PSEN2	Zornitza Stark gene: PSEN2 was added gene: PSEN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PSEN2 were set to Alzheimer disease, type 4
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PSEN1	Zornitza Stark gene: PSEN1 was added gene: PSEN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PSEN1 were set to Alzheimer disease, type 3
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PSAT1	Zornitza Stark Source Expert Review Red was added to PSAT1. Source BabySeq Category C gene was added to PSAT1. Added phenotypes Phosphoserine aminotransferase deficiency for gene: PSAT1 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PRRX1	Zornitza Stark gene: PRRX1 was added gene: PRRX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PRRX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRRX1 were set to Agnathia-otocephaly complex
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PRPS1	Zornitza Stark gene: PRPS1 was added gene: PRPS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PRPS1 were set to Charcot-Marie-Tooth disease; Arts syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PRODH	Zornitza Stark gene: PRODH was added gene: PRODH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRODH were set to Hyperprolinemia, type I
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PRKCSH	Zornitza Stark gene: PRKCSH was added gene: PRKCSH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKCSH were set to Polycystic liver disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PRKAG2	Zornitza Stark gene: PRKAG2 was added gene: PRKAG2 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic; Wolff-Parkinson-White syndrome; Glycogen storage disease of heart, lethal congenital
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PRICKLE1	Zornitza Stark gene: PRICKLE1 was added gene: PRICKLE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PREPL	Zornitza Stark Source Expert Review Red was added to PREPL. Source BabySeq Category C gene was added to PREPL. Added phenotypes Hypotonia - cystinuria syndrome for gene: PREPL Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PRDM16	Zornitza Stark gene: PRDM16 was added gene: PRDM16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRDM16 were set to Left ventricular noncompaction
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PPOX	Zornitza Stark gene: PPOX was added gene: PPOX was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PPOX were set to Porphyria variegata
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	POMC	Zornitza Stark gene: POMC was added gene: POMC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMC were set to Proopiomelanocortin deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PODXL	Zornitza Stark gene: PODXL was added gene: PODXL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PODXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PODXL were set to Focal and segmental glomerulosclerosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PNPLA1	Zornitza Stark gene: PNPLA1 was added gene: PNPLA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA1 were set to Ichthyosis, autosomal recessive congenital
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PMS2	Zornitza Stark gene: PMS2 was added gene: PMS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PMS2 were set to Lynch syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PLOD2	Zornitza Stark gene: PLOD2 was added gene: PLOD2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLOD2 were set to Bruck syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PLN	Zornitza Stark gene: PLN was added gene: PLN was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PLN were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PHOX2A	Zornitza Stark gene: PHOX2A was added gene: PHOX2A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PHOX2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PHKA1	Zornitza Stark gene: PHKA1 was added gene: PHKA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHKA1 were set to Phosphorylase kinase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PEX19	Zornitza Stark gene: PEX19 was added gene: PEX19 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX19 were set to Zellweger syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PEX16	Zornitza Stark gene: PEX16 was added gene: PEX16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to Zellweger syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PEX14	Zornitza Stark gene: PEX14 was added gene: PEX14 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX14 were set to Zellweger syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PEX11B	Zornitza Stark gene: PEX11B was added gene: PEX11B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PDSS2	Zornitza Stark Source Expert Review Red was added to PDSS2. Source BabySeq Category C gene was added to PDSS2. Added phenotypes Leigh syndrome with nephropathy and COQ10 deficiency for gene: PDSS2 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PDSS1	Zornitza Stark Source Expert Review Red was added to PDSS1. Source BabySeq Category C gene was added to PDSS1. Added phenotypes Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal for gene: PDSS1 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PDP1	Zornitza Stark gene: PDP1 was added gene: PDP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PDLIM3	Zornitza Stark gene: PDLIM3 was added gene: PDLIM3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PDLIM3 were set to Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PDE11A	Zornitza Stark gene: PDE11A was added gene: PDE11A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PDE11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PDE11A were set to Adrenocortical hyperplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PABPN1	Zornitza Stark gene: PABPN1 was added gene: PABPN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PABPN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PABPN1 were set to Oculopharyngeal muscular dystrophy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	P2RX2	Zornitza Stark gene: P2RX2 was added gene: P2RX2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: P2RX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: P2RX2 were set to Hearing loss
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	OTUD4	Zornitza Stark gene: OTUD4 was added gene: OTUD4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: OTUD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTUD4 were set to Hypogonadotropic hypogonadism, ataxia & dementia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	OTOG	Zornitza Stark gene: OTOG was added gene: OTOG was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: OTOG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTOG were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ORC6	Zornitza Stark gene: ORC6 was added gene: ORC6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ORC4	Zornitza Stark gene: ORC4 was added gene: ORC4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC4 were set to Meier-Gorlin syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	OPA3	Zornitza Stark gene: OPA3 was added gene: OPA3 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: OPA3 were set to Optic atrophy 3 with cataract; 3-methylglutaconic aciduria, type III
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NUP62	Zornitza Stark gene: NUP62 was added gene: NUP62 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NUP155	Zornitza Stark gene: NUP155 was added gene: NUP155 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NUP155 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUP155 were set to Atrial fibrillation
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NUB1	Zornitza Stark gene: NUB1 was added gene: NUB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NUB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NUB1 were set to Congenital heart disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NSDHL	Zornitza Stark gene: NSDHL was added gene: NSDHL was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NSDHL were set to CK syndrome; CHILD syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NRXN1	Zornitza Stark gene: NRXN1 was added gene: NRXN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NRXN1 was set to Unknown Phenotypes for gene: NRXN1 were set to Autism
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NRG1	Zornitza Stark gene: NRG1 was added gene: NRG1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NRG1 were set to Hirschsprung disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NR1H4	Zornitza Stark gene: NR1H4 was added gene: NR1H4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NR1H4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NR1H4 were set to Cholestasis, infantile
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NPPA	Zornitza Stark gene: NPPA was added gene: NPPA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NPPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NPPA were set to Atrial fibrillation
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NOTCH1	Zornitza Stark gene: NOTCH1 was added gene: NOTCH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOTCH1 were set to Aortic valve disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NOP10	Zornitza Stark gene: NOP10 was added gene: NOP10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NOP10 were set to Dyskeratosis congenita
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NME8	Zornitza Stark gene: NME8 was added gene: NME8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NME8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NME8 were set to Ciliary dyskinesia, primary
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NLRP7	Zornitza Stark gene: NLRP7 was added gene: NLRP7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NLRP7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NLRP7 were set to Hydatidiform mole
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NLGN4X	Zornitza Stark gene: NLGN4X was added gene: NLGN4X was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NLGN4X was set to Unknown Phenotypes for gene: NLGN4X were set to Autism
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NLGN3	Zornitza Stark gene: NLGN3 was added gene: NLGN3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NLGN3 was set to Unknown Phenotypes for gene: NLGN3 were set to Autism
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NKX3-2	Zornitza Stark gene: NKX3-2 was added gene: NKX3-2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NIN	Zornitza Stark gene: NIN was added gene: NIN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NIN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NIN were set to Seckel syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NHP2	Zornitza Stark gene: NHP2 was added gene: NHP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHP2 were set to Dyskeratosis congenita
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NFATC1	Zornitza Stark gene: NFATC1 was added gene: NFATC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NFATC1 were set to Congenital heart disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NEXN	Zornitza Stark gene: NEXN was added gene: NEXN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEXN were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NEDD4L	Zornitza Stark gene: NEDD4L was added gene: NEDD4L was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEDD4L were set to Epilepsy, photosensitive generalised
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NECTIN1	Zornitza Stark gene: NECTIN1 was added gene: NECTIN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NECTIN1 were set to Cleft lip / palate
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NEBL	Zornitza Stark gene: NEBL was added gene: NEBL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEBL were set to Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NCF4	Zornitza Stark Source Expert Review Red was added to NCF4. Source BabySeq Category C gene was added to NCF4. Added phenotypes Chronic granulomatous disease for gene: NCF4 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NAA15	Zornitza Stark gene: NAA15 was added gene: NAA15 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NAA15 were set to Congenital heart disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NAA10	Zornitza Stark gene: NAA10 was added gene: NAA10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYPN	Zornitza Stark gene: MYPN was added gene: MYPN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MYPN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYPN were set to Cardiomyopathy, hypertrophic; Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYOZ2	Zornitza Stark gene: MYOZ2 was added gene: MYOZ2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MYOZ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYOZ2 were set to Cardiomyopathy, hypertrophic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYOT	Zornitza Stark gene: MYOT was added gene: MYOT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYOT were set to Myofibrillar myopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYOM1	Zornitza Stark gene: MYOM1 was added gene: MYOM1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MYOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYOM1 were set to Cardiomyopathy, hypertrophic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYO5A	Zornitza Stark gene: MYO5A was added gene: MYO5A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO5A were set to Griscelli syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYO1F	Zornitza Stark gene: MYO1F was added gene: MYO1F was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MYO1F was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO1F were set to Sensorineural hearing loss
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYO1E	Zornitza Stark gene: MYO1E was added gene: MYO1E was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MYO1E was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO1E were set to Focal segmental glomerulosclerosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYO1C	Zornitza Stark gene: MYO1C was added gene: MYO1C was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MYO1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO1C were set to Sensorineural hearing loss
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYLK2	Zornitza Stark gene: MYLK2 was added gene: MYLK2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MYLK2 was set to Unknown Phenotypes for gene: MYLK2 were set to Cardiomyopathy, hypertrophic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYH6	Zornitza Stark gene: MYH6 was added gene: MYH6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH6 were set to Cardiomyopathy, dilated; Cardiomyopathy, familial hypertrophic; Atrial septal defect
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYBPC3	Zornitza Stark gene: MYBPC3 was added gene: MYBPC3 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene Mode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MUC5B	Zornitza Stark gene: MUC5B was added gene: MUC5B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MUC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MUC5B were set to Pulmonary fibrosis, idiopathic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MTO1	Zornitza Stark gene: MTO1 was added gene: MTO1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTO1 were set to Hypertrophic cardiomyopathy & lactic acidosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MT-ND6	Zornitza Stark gene: MT-ND6 was added gene: MT-ND6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND6 were set to Leber hereditary optic neuropathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MT-ND4	Zornitza Stark gene: MT-ND4 was added gene: MT-ND4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND4 were set to Leber hereditary optic neuropathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MT-ND1	Zornitza Stark gene: MT-ND1 was added gene: MT-ND1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND1 were set to Leber hereditary optic neuropathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MSRB3	Zornitza Stark gene: MSRB3 was added gene: MSRB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MSRB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MSRB3 were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MSH6	Zornitza Stark gene: MSH6 was added gene: MSH6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MSH6 were set to Lynch syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MSH2	Zornitza Stark gene: MSH2 was added gene: MSH2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MSH2 were set to Lynch syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MRPS22	Zornitza Stark gene: MRPS22 was added gene: MRPS22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS22 were set to Mitochondrial respiratory chain disorder
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MRPS16	Zornitza Stark gene: MRPS16 was added gene: MRPS16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS16 were set to Mitochondrial respiratory chain disorder
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MOGS	Zornitza Stark gene: MOGS was added gene: MOGS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOGS were set to Glucosidase 1 deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MLPH	Zornitza Stark gene: MLPH was added gene: MLPH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLPH were set to Griscelli syndrome type 3
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MLH1	Zornitza Stark gene: MLH1 was added gene: MLH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MLH1 were set to Lynch syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MIR96	Zornitza Stark gene: MIR96 was added gene: MIR96 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MIR96 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MIR96 were set to Hearing loss
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MIB1	Zornitza Stark gene: MIB1 was added gene: MIB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MIB1 were set to Left ventricular noncompaction
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MESP2	Zornitza Stark gene: MESP2 was added gene: MESP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis, autosomal recessive 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MED20	Zornitza Stark gene: MED20 was added gene: MED20 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MED20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MED20 were set to Congenital heart disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MED13L	Zornitza Stark gene: MED13L was added gene: MED13L was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MED13L were set to Transposition of great arteries
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MCEE	Zornitza Stark gene: MCEE was added gene: MCEE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MCCC2	Zornitza Stark Source Expert Review Red was added to MCCC2. Source BabySeq Category B gene was added to MCCC2. Added phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency for gene: MCCC2 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MATN4	Zornitza Stark gene: MATN4 was added gene: MATN4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MATN4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MATN4 were set to Multiple anomalies
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MAT1A	Zornitza Stark gene: MAT1A was added gene: MAT1A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAT1A were set to Methionine adenosyltransferase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MAPT	Zornitza Stark gene: MAPT was added gene: MAPT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MAPK10	Zornitza Stark gene: MAPK10 was added gene: MAPK10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MAPK10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAPK10 were set to Epileptic encephalopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LYZ	Zornitza Stark gene: LYZ was added gene: LYZ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: LYZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LYZ were set to Amyloidosis, systemic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LUM	Zornitza Stark gene: LUM was added gene: LUM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: LUM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LUM were set to Amyotrophic lateral sclerosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LRRK2	Zornitza Stark gene: LRRK2 was added gene: LRRK2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LRRK2 were set to Parkinson disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LPP	Zornitza Stark gene: LPP was added gene: LPP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: LPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LPP were set to Tetralogy of Fallot
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LPIN2	Zornitza Stark gene: LPIN2 was added gene: LPIN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LPIN2 were set to Majeed syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LMNB2	Zornitza Stark gene: LMNB2 was added gene: LMNB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LMNB2 were set to Lipodystrophy, partial
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LHB	Zornitza Stark gene: LHB was added gene: LHB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: LHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LHB were set to Hypogonadism
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LGI1	Zornitza Stark gene: LGI1 was added gene: LGI1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: LGI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LGI1 were set to Epilepsy, familial temporal lobe, 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LDB3	Zornitza Stark gene: LDB3 was added gene: LDB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LDB3 were set to Myofibrillar myopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LBR	Zornitza Stark gene: LBR was added gene: LBR was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: LBR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LBR were set to Pelger-Huet anomaly; Reynolds syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LARS	Zornitza Stark gene: LARS was added gene: LARS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARS were set to Infantile liver failure syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LAMA4	Zornitza Stark gene: LAMA4 was added gene: LAMA4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LAMA4 were set to Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KRT8	Zornitza Stark gene: KRT8 was added gene: KRT8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KRT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT8 were set to Cirrhosis, cryptogenic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KRT6B	Zornitza Stark gene: KRT6B was added gene: KRT6B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT6B were set to Pachyonychia congenita
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KRT18	Zornitza Stark gene: KRT18 was added gene: KRT18 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KRT18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT18 were set to Cirrhosis, cryptogenic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KPTN	Zornitza Stark gene: KPTN was added gene: KPTN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KPTN were set to Macrocephaly, neurodevelopmental delay, and seizures
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KIF22	Zornitza Stark gene: KIF22 was added gene: KIF22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF22 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KIF1BP	Zornitza Stark gene: KIF1BP was added gene: KIF1BP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KIF1B	Zornitza Stark gene: KIF1B was added gene: KIF1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF1B were set to Charcot-Marie-Tooth disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KDM5B	Zornitza Stark gene: KDM5B was added gene: KDM5B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KDM5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KDM5B were set to Congenital heart disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNQ3	Zornitza Stark gene: KCNQ3 was added gene: KCNQ3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNQ3 were set to Epilepsy, benign neonatal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNQ2	Zornitza Stark Source Expert Review Red was added to KCNQ2. Source BabySeq Category C gene was added to KCNQ2. Added phenotypes Epilepsy, benign neonatal for gene: KCNQ2 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNQ1OT1	Zornitza Stark gene: KCNQ1OT1 was added gene: KCNQ1OT1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KCNQ1OT1 was set to Unknown Phenotypes for gene: KCNQ1OT1 were set to Beckwith-Wiedemann syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNJ8	Zornitza Stark gene: KCNJ8 was added gene: KCNJ8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNJ8 were set to Sudden infant death syndrom
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNJ5	Zornitza Stark gene: KCNJ5 was added gene: KCNJ5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNJ5 were set to Long QT syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNJ18	Zornitza Stark gene: KCNJ18 was added gene: KCNJ18 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNJ18 were set to Hypokalaemic periodic paralysis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNE5	Zornitza Stark gene: KCNE5 was added gene: KCNE5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KCNE5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNE5 were set to Atrial fibrillation
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNE3	Zornitza Stark gene: KCNE3 was added gene: KCNE3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNE3 were set to Brugada syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCND3	Zornitza Stark gene: KCND3 was added gene: KCND3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCND3 were set to Brugada syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	JPH2	Zornitza Stark gene: JPH2 was added gene: JPH2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: JPH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: JPH2 were set to Cardiomyopathy, hypertrophic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ITGA7	Zornitza Stark gene: ITGA7 was added gene: ITGA7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA7 were set to Congenital muscular dystrophy with integrin deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ITGA6	Zornitza Stark gene: ITGA6 was added gene: ITGA6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ISL1	Zornitza Stark gene: ISL1 was added gene: ISL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ISL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ISL1 were set to Diabetes, type 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ISCU	Zornitza Stark gene: ISCU was added gene: ISCU was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ISCU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ISCU were set to Myopathy with defiency of succinate dehydrogenase
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IRS1	Zornitza Stark gene: IRS1 was added gene: IRS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: IRS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IRS1 were set to Diabetes mellitus, noninsulin dependent
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ILK	Zornitza Stark gene: ILK was added gene: ILK was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ILK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ILK were set to Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IL10RB	Zornitza Stark Source Expert Review Red was added to IL10RB. Source BabySeq Category C gene was added to IL10RB. Added phenotypes Inflammatory bowel disease for gene: IL10RB Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IGF1	Zornitza Stark gene: IGF1 was added gene: IGF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGF1 were set to Insulin-like growth factor deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IGBP1	Zornitza Stark gene: IGBP1 was added gene: IGBP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGBP1 were set to Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IFT80	Zornitza Stark gene: IFT80 was added gene: IFT80 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT80 were set to Asphyxiating thoracic dystrophy 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IFT43	Zornitza Stark gene: IFT43 was added gene: IFT43 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IFT122	Zornitza Stark gene: IFT122 was added gene: IFT122 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HYLS1	Zornitza Stark gene: HYLS1 was added gene: HYLS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HYDIN	Zornitza Stark gene: HYDIN was added gene: HYDIN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HYDIN were set to Primary ciliary dyskinesia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HPS6	Zornitza Stark gene: HPS6 was added gene: HPS6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HPD	Zornitza Stark Source Expert Review Red was added to HPD. Source BabySeq Category C gene was added to HPD. Mode of inheritance for gene HPD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Tyrosinemia, type III for gene: HPD Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HOXA1	Zornitza Stark gene: HOXA1 was added gene: HOXA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HOMEZ	Zornitza Stark gene: HOMEZ was added gene: HOMEZ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HOMEZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HOMEZ were set to Congenital heart disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HNF1B	Zornitza Stark gene: HNF1B was added gene: HNF1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HMBS	Zornitza Stark gene: HMBS was added gene: HMBS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HMBS were set to Porphyria, acute intermittent
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HK1	Zornitza Stark Source Expert Review Red was added to HK1. Source BabySeq Category C gene was added to HK1. Mode of inheritance for gene HK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hemolytic anemia due to hexokinase deficiency for gene: HK1 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HIBCH	Zornitza Stark gene: HIBCH was added gene: HIBCH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HIBCH were set to Neurodegeneration, progressive infantile
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HFE2	Zornitza Stark gene: HFE2 was added gene: HFE2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HFE2 were set to Haemochromatosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HFE	Zornitza Stark gene: HFE was added gene: HFE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HFE were set to Hemochromatosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HESX1	Zornitza Stark Source Expert Review Red was added to HESX1. Source BabySeq Category C gene was added to HESX1. Mode of inheritance for gene HESX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Pituitary hypoplasia for gene: HESX1 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HERC2	Zornitza Stark gene: HERC2 was added gene: HERC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HERC2 were set to Autism spectrum disorder
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HCN4	Zornitza Stark gene: HCN4 was added gene: HCN4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HCN4 were set to Brugada syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HCCS	Zornitza Stark gene: HCCS was added gene: HCCS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HCCS were set to Microphthalmia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HAS2	Zornitza Stark gene: HAS2 was added gene: HAS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HAS2 were set to Congenital heart disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HARS	Zornitza Stark gene: HARS was added gene: HARS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HARS were set to Usher syndrome type 3B
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HAMP	Zornitza Stark gene: HAMP was added gene: HAMP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HAMP were set to Haemochromatosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	H19	Zornitza Stark gene: H19 was added gene: H19 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene Mode of inheritance for gene: H19 was set to Unknown Phenotypes for gene: H19 were set to Beckwith-Wiedemann Syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GYG1	Zornitza Stark gene: GYG1 was added gene: GYG1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GYG1 were set to Glycogen storage disease XV
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GUCY2C	Zornitza Stark gene: GUCY2C was added gene: GUCY2C was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GUCY2C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GUCY2C were set to Meconium ileus
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GTF2H5	Zornitza Stark gene: GTF2H5 was added gene: GTF2H5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GRIN2A	Zornitza Stark gene: GRIN2A was added gene: GRIN2A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GRIN2A were set to Epilepsy with neurodevelopmental defects
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GPX1	Zornitza Stark gene: GPX1 was added gene: GPX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GPX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPX1 were set to Hemolytic anemia due to glutathione peroxidase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GPHN	Zornitza Stark gene: GPHN was added gene: GPHN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPHN were set to Hyperekplexia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GPC6	Zornitza Stark gene: GPC6 was added gene: GPC6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPC6 were set to Omodysplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GPC4	Zornitza Stark gene: GPC4 was added gene: GPC4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPC4 were set to Simpson-Golabi-Behmel syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GMPPA	Zornitza Stark gene: GMPPA was added gene: GMPPA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GMPPA were set to Congenital disorder of glycosylation
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GLUL	Zornitza Stark gene: GLUL was added gene: GLUL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLUL were set to Congenital brain dysgenesis due to glutamine synthetase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GLRB	Zornitza Stark Source Expert Review Red was added to GLRB. Source BabySeq Category C gene was added to GLRB. Added phenotypes Hyperekplexia 2, autosomal recessive for gene: GLRB Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GLIS3	Zornitza Stark Source Expert Review Red was added to GLIS3. Source BabySeq Category C gene was added to GLIS3. Added phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism for gene: GLIS3 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GLI2	Zornitza Stark gene: GLI2 was added gene: GLI2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLI2 were set to Holoprosencephaly-9
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GLE1	Zornitza Stark gene: GLE1 was added gene: GLE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLE1 were set to Lethal arthrogryposis with anterior horn cell disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GFER	Zornitza Stark gene: GFER was added gene: GFER was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GDNF	Zornitza Stark gene: GDNF was added gene: GDNF was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GDNF were set to Hirschsprung disease; Central hypoventilation syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GDF1	Zornitza Stark gene: GDF1 was added gene: GDF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GDF1 were set to Congenital heart defects
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GCSH	Zornitza Stark gene: GCSH was added gene: GCSH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCSH were set to Glycine encephalopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GCLC	Zornitza Stark gene: GCLC was added gene: GCLC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GBE1	Zornitza Stark gene: GBE1 was added gene: GBE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form; Glycogen storage disease IV
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GATAD1	Zornitza Stark gene: GATAD1 was added gene: GATAD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GATAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GATAD1 were set to Cardiomyopathy, dilated, 2B
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GATA6	Zornitza Stark gene: GATA6 was added gene: GATA6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA6 were set to Atrial fibrillation
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GATA5	Zornitza Stark gene: GATA5 was added gene: GATA5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GATA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA5 were set to Familial atrial fibrillation
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GATA1	Zornitza Stark Source Expert Review Red was added to GATA1. Source BabySeq Category A gene was added to GATA1. Source BabySeq Category C gene was added to GATA1. Added phenotypes Dyserythropoietic anemia with thrombocytopenia; Porphyria, congenital erythropoietic for gene: GATA1 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GABRA1	Zornitza Stark gene: GABRA1 was added gene: GABRA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GABRA1 were set to Epilepsy, idiopathic generalised
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FTCD	Zornitza Stark gene: FTCD was added gene: FTCD was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FSCN2	Zornitza Stark gene: FSCN2 was added gene: FSCN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FSCN2 were set to Retinitis pigmentosa
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FREM2	Zornitza Stark gene: FREM2 was added gene: FREM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FREM2 were set to Fraser syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FREM1	Zornitza Stark gene: FREM1 was added gene: FREM1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FREM1 were set to Manitoba oculotrichoanal syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FOXN1	Zornitza Stark Source Expert Review Red was added to FOXN1. Source BabySeq Category C gene was added to FOXN1. Mode of inheritance for gene FOXN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Congenital alopecia with T-cell immunodeficiency for gene: FOXN1 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FOXH1	Zornitza Stark gene: FOXH1 was added gene: FOXH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FOXH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXH1 were set to Congenital heart defects
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FOXF2	Zornitza Stark gene: FOXF2 was added gene: FOXF2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FOXF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXF2 were set to Disorders of sex development with cleft palate
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FOXE1	Zornitza Stark gene: FOXE1 was added gene: FOXE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXE1 were set to Bamforth-Lazarus syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FMO3	Zornitza Stark gene: FMO3 was added gene: FMO3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FMO3 were set to Trimethylaminuria
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FLNC	Zornitza Stark gene: FLNC was added gene: FLNC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLNC were set to Myofibrillar myopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FLG	Zornitza Stark gene: FLG was added gene: FLG was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLG were set to Ichthyosis vulgaris
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FKBPL	Zornitza Stark gene: FKBPL was added gene: FKBPL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FKBPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FKBPL were set to Infertility
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FHL2	Zornitza Stark gene: FHL2 was added gene: FHL2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FHL2 were set to Cardiomyopathy, hypertrophic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FHL1	Zornitza Stark gene: FHL1 was added gene: FHL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FHL1 were set to Myofibrillar myopathy; Emery-Dreifuss muscular dystrophy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FBLN5	Zornitza Stark gene: FBLN5 was added gene: FBLN5 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: FBLN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FBLN5 were set to Age-related macular degeneration; Cutis laxa
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FANCM	Zornitza Stark gene: FANCM was added gene: FANCM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCM were set to Fanconi anaemia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FANCL	Zornitza Stark Source Expert Review Red was added to FANCL. Source BabySeq Category C gene was added to FANCL. Added phenotypes Fanconi anaemia for gene: FANCL Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FANCF	Zornitza Stark Source Expert Review Red was added to FANCF. Source BabySeq Category C gene was added to FANCF. Added phenotypes Fanconi anaemia for gene: FANCF Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FANCE	Zornitza Stark Source Expert Review Red was added to FANCE. Source BabySeq Category C gene was added to FANCE. Added phenotypes Fanconi anaemia for gene: FANCE Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FAM111B	Zornitza Stark gene: FAM111B was added gene: FAM111B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FAM111B were set to Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FAAH2	Zornitza Stark gene: FAAH2 was added gene: FAAH2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: FAAH2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FAAH2 were set to Autism spectrum disorder
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	F13B	Zornitza Stark Source Expert list was added to F13B. Source Expert Review Red was added to F13B. Added phenotypes Factor XIIIB deficiency MIM# 613235 for gene: F13B Publications for gene F13B were updated from to PMID: 31013569 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ERCC4	Zornitza Stark Source Expert Review Red was added to ERCC4. Source BabySeq Category C gene was added to ERCC4. Added phenotypes Xeroderma pigmentosum for gene: ERCC4 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ERCC3	Zornitza Stark gene: ERCC3 was added gene: ERCC3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC3 were set to Xeroderma pigmentosum
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ERCC1	Zornitza Stark gene: ERCC1 was added gene: ERCC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC1 were set to Xeroderma pigmentosum
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ERBB3	Zornitza Stark gene: ERBB3 was added gene: ERBB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EPHX1	Zornitza Stark gene: EPHX1 was added gene: EPHX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: EPHX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPHX1 were set to Hypercholanemia, familial
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EPCAM	Zornitza Stark gene: EPCAM was added gene: EPCAM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EPCAM were set to Lynch syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EPB42	Zornitza Stark gene: EPB42 was added gene: EPB42 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: EPB42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EPB42 were set to Spherocytosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EIF2B1	Zornitza Stark gene: EIF2B1 was added gene: EIF2B1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EFHC1	Zornitza Stark gene: EFHC1 was added gene: EFHC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene Mode of inheritance for gene: EFHC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EFHC1 were set to 33181902; 28370826; 33969125; 29750216; 31056551 Phenotypes for gene: EFHC1 were set to {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; {Epilepsy, juvenile absence, susceptibility to, 1}, 607631
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EFEMP2	Zornitza Stark gene: EFEMP2 was added gene: EFEMP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ECE1	Zornitza Stark gene: ECE1 was added gene: ECE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ECE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ECE1 were set to Hirschsprung disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DTNBP1	Zornitza Stark gene: DTNBP1 was added gene: DTNBP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DTNBP1 were set to Hermansky-Pudlak syndrome 7
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DTNA	Zornitza Stark gene: DTNA was added gene: DTNA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DTNA were set to Left ventricular noncompaction 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DTHD1	Zornitza Stark gene: DTHD1 was added gene: DTHD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DTHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DTHD1 were set to Leber congenital amaurosis with myopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DPYD	Zornitza Stark gene: DPYD was added gene: DPYD was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DPP6	Zornitza Stark gene: DPP6 was added gene: DPP6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DPP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DPP6 were set to Ventricular fibrillation, paroxysmal familial, 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DPM1	Zornitza Stark gene: DPM1 was added gene: DPM1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DNAL1	Zornitza Stark gene: DNAL1 was added gene: DNAL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAL1 were set to Primary ciliary dyskinesia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DNAJC5	Zornitza Stark gene: DNAJC5 was added gene: DNAJC5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DNAJC5 were set to Neuronal ceroid lipofuscinosis, adult-onset
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DNAJC19	Zornitza Stark gene: DNAJC19 was added gene: DNAJC19 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DNAI2	Zornitza Stark gene: DNAI2 was added gene: DNAI2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI2 were set to Primary ciliary dyskinesia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DNAAF5	Zornitza Stark gene: DNAAF5 was added gene: DNAAF5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF5 were set to Primary ciliary dyskinesia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DNAAF3	Zornitza Stark gene: DNAAF3 was added gene: DNAAF3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF3 were set to Primary ciliary dyskinesia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DNAAF2	Zornitza Stark gene: DNAAF2 was added gene: DNAAF2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF2 were set to Primary ciliary dyskinesia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DLC1	Zornitza Stark gene: DLC1 was added gene: DLC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DLC1 were set to Congenital heart disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DIABLO	Zornitza Stark gene: DIABLO was added gene: DIABLO was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DIABLO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DIABLO were set to Deafness, autosomal dominant
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DHCR24	Zornitza Stark gene: DHCR24 was added gene: DHCR24 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR24 were set to Desmosterolosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DGKE	Zornitza Stark gene: DGKE was added gene: DGKE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGKE were set to Haemolytic uraemic syndrome, atypical
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DECR1	Zornitza Stark gene: DECR1 was added gene: DECR1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DECR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DECR1 were set to 2,4-Dienoyl-CoA reductase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DDR2	Zornitza Stark gene: DDR2 was added gene: DDR2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DDOST	Zornitza Stark gene: DDOST was added gene: DDOST was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDOST were set to Congenital disorder of glycosylation, type Ir
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DDHD1	Zornitza Stark gene: DDHD1 was added gene: DDHD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDHD1 were set to Spastic paraplegia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DCTN1	Zornitza Stark gene: DCTN1 was added gene: DCTN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DCTN1 were set to Amyotrophic lateral sclerosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DBH	Zornitza Stark gene: DBH was added gene: DBH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DBH were set to Dopamine beta-hydroxylase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DAPK3	Zornitza Stark gene: DAPK3 was added gene: DAPK3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DAPK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DAPK3 were set to Congenital heart disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DAG1	Zornitza Stark gene: DAG1 was added gene: DAG1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CYP7B1	Zornitza Stark gene: CYP7B1 was added gene: CYP7B1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP7B1 were set to Cholestasis, severe
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CYP7A1	Zornitza Stark gene: CYP7A1 was added gene: CYP7A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CYP7A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP7A1 were set to Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CYCS	Zornitza Stark gene: CYCS was added gene: CYCS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CYCS were set to Thrombocytopenia 4
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CTF1	Zornitza Stark gene: CTF1 was added gene: CTF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CTF1 was set to Unknown Phenotypes for gene: CTF1 were set to Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CTDP1	Zornitza Stark gene: CTDP1 was added gene: CTDP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTDP1 were set to Congenital cataracts - facial dysmorphism - neuropathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CSTA	Zornitza Stark gene: CSTA was added gene: CSTA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTA were set to Exfoliative ichthyosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CSRP3	Zornitza Stark gene: CSRP3 was added gene: CSRP3 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CSRP3 were set to Cardiomyopathy, dilated, 1M; Cardiomyopathy, familial hypertrophic, 12
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CSF2RB	Zornitza Stark gene: CSF2RB was added gene: CSF2RB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSF2RB were set to Pulmonary alveolar proteinosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CSF1R	Zornitza Stark gene: CSF1R was added gene: CSF1R was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CSF1R were set to Leukoencephalopathy, diffuse hereditary, with spheroids
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CRELD1	Zornitza Stark gene: CRELD1 was added gene: CRELD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CRELD1 were set to Cardiac atrioventricular septal defect
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CR2	Zornitza Stark gene: CR2 was added gene: CR2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CR2 were set to Hypogammaglobulinaemia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CPZ	Zornitza Stark gene: CPZ was added gene: CPZ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CPZ were set to Autism
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CPOX	Zornitza Stark Source Expert Review Red was added to CPOX. Source BabySeq Category C gene was added to CPOX. Mode of inheritance for gene CPOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Coproporphyria for gene: CPOX Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COX4I2	Zornitza Stark gene: COX4I2 was added gene: COX4I2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX4I2 were set to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COQ6	Zornitza Stark Source Expert Review Red was added to COQ6. Source BabySeq Category C gene was added to COQ6. Added phenotypes Nephrotic syndrome with sensorineural deafness for gene: COQ6 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COQ2	Zornitza Stark Source Expert Review Red was added to COQ2. Source BabySeq Category C gene was added to COQ2. Added phenotypes Coenzyme Q10 deficiency, primary, 1 for gene: COQ2 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COG7	Zornitza Stark gene: COG7 was added gene: COG7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COG4	Zornitza Stark gene: COG4 was added gene: COG4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG4 were set to Congenital disorder of glycosylation, type IIj
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CNTNAP2	Zornitza Stark gene: CNTNAP2 was added gene: CNTNAP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CNTNAP2 was set to Unknown Phenotypes for gene: CNTNAP2 were set to Autism spectrum disorder
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CLMP	Zornitza Stark gene: CLMP was added gene: CLMP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLMP were set to Congenital short-bowel syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CLDN1	Zornitza Stark gene: CLDN1 was added gene: CLDN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CLCN1	Zornitza Stark gene: CLCN1 was added gene: CLCN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CLCN1 were set to Myotonia congenita, recessive, MIM# 255700; Myotonia congenita, dominant, MIM# 160800
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CITED2	Zornitza Stark gene: CITED2 was added gene: CITED2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CITED2 were set to Congenital heart defects
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CISD2	Zornitza Stark gene: CISD2 was added gene: CISD2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CISD2 were set to Wolfram syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CHSY1	Zornitza Stark gene: CHSY1 was added gene: CHSY1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CHST3	Zornitza Stark gene: CHST3 was added gene: CHST3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHST3 were set to Larsen syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CHRNB1	Zornitza Stark Source Expert Review Red was added to CHRNB1. Source BabySeq Category C gene was added to CHRNB1. Added phenotypes Congenital myasthenic syndrome for gene: CHRNB1 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CHRNA2	Zornitza Stark gene: CHRNA2 was added gene: CHRNA2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CHRNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHRNA2 were set to Epilepsy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CHRM2	Zornitza Stark gene: CHRM2 was added gene: CHRM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CHRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHRM2 were set to Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CHEK2	Zornitza Stark gene: CHEK2 was added gene: CHEK2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHEK2 were set to Breast cancer, susceptibility to
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CFI	Zornitza Stark gene: CFI was added gene: CFI was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFI were set to Haemolytic uraemic syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CFHR5	Zornitza Stark gene: CFHR5 was added gene: CFHR5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CFHR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CFHR5 were set to Haemolytic uraemic syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CFHR4	Zornitza Stark gene: CFHR4 was added gene: CFHR4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CFHR4 was set to Unknown Phenotypes for gene: CFHR4 were set to Hemolytic-uremic syndrome, atypical, susceptibility to
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CFHR3	Zornitza Stark gene: CFHR3 was added gene: CFHR3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CFHR3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFHR3 were set to Haemolytic uraemic syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CFHR1	Zornitza Stark gene: CFHR1 was added gene: CFHR1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CFHR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFHR1 were set to Haemolytic uraemic syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CFH	Zornitza Stark gene: CFH was added gene: CFH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CFH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFH were set to Haemolytic uraemic syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CFD	Zornitza Stark Source Expert Review Red was added to CFD. Source BabySeq Category C gene was added to CFD. Added phenotypes Complement factor D deficiency for gene: CFD Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CFB	Zornitza Stark Source Expert Review Red was added to CFB. Source BabySeq Category C gene was added to CFB. Added phenotypes Haemolytic uraemic syndrome for gene: CFB Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CEP41	Zornitza Stark gene: CEP41 was added gene: CEP41 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP41 were set to Joubert syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CENPJ	Zornitza Stark gene: CENPJ was added gene: CENPJ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CENPJ were set to Primary microcephaly
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CEACAM16	Zornitza Stark gene: CEACAM16 was added gene: CEACAM16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CEACAM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CEACAM16 were set to Hearing loss, autosomal dominant
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CDON	Zornitza Stark gene: CDON was added gene: CDON was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDON were set to Holoprosencephaly
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CDH1	Zornitza Stark gene: CDH1 was added gene: CDH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDH1 were set to Orofacial clefts; Gastric cancer
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CD96	Zornitza Stark gene: CD96 was added gene: CD96 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CD96 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD96 were set to C syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CD46	Zornitza Stark gene: CD46 was added gene: CD46 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CD46 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD46 were set to Haemolytic uraemic syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CD36	Zornitza Stark gene: CD36 was added gene: CD36 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CD36 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD36 were set to Platelet glycoprotein IV deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CD2AP	Zornitza Stark gene: CD2AP was added gene: CD2AP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CD2AP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD2AP were set to Glomerulosclerosis, focal segmental, 3
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CCDC88C	Zornitza Stark gene: CCDC88C was added gene: CCDC88C was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC88C were set to Hydrocephalus
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CCDC78	Zornitza Stark gene: CCDC78 was added gene: CCDC78 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CCDC78 were set to Congenital myopathy with prominent internal nuclei and atypical cores
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CCDC50	Zornitza Stark gene: CCDC50 was added gene: CCDC50 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CCDC50 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCDC50 were set to 27911912; 24875298; 17503326 Phenotypes for gene: CCDC50 were set to Deafness, autosomal dominant 44 , MIM# 607453
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CCDC103	Zornitza Stark gene: CCDC103 was added gene: CCDC103 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC103 were set to Primary ciliary dyskinesia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CAVIN4	Zornitza Stark gene: CAVIN4 was added gene: CAVIN4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CAVIN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CAVIN4 were set to Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CASP10	Zornitza Stark gene: CASP10 was added gene: CASP10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CASP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CASP10 were set to Autoimmune lymphoproliferative syndrome II
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CARS2	Zornitza Stark gene: CARS2 was added gene: CARS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CARS2 were set to Epileptic encephalopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CACNB2	Zornitza Stark gene: CACNB2 was added gene: CACNB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNB2 were set to Brugada syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CACNA2D1	Zornitza Stark gene: CACNA2D1 was added gene: CACNA2D1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA2D1 were set to Brugada syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CACNA1S	Zornitza Stark gene: CACNA1S was added gene: CACNA1S was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1S were set to Malignant hyperthermia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CACNA1D	Zornitza Stark Source Expert Review Red was added to CACNA1D. Source BabySeq Category C gene was added to CACNA1D. Mode of inheritance for gene CACNA1D was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Sinoatrial node dysfunction and deafness for gene: CACNA1D Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	C3	Zornitza Stark Source Expert Review Red was added to C3. Source BabySeq Category C gene was added to C3. Added phenotypes Haemolytic uraemic syndrome for gene: C3 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BVES	Zornitza Stark gene: BVES was added gene: BVES was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: BVES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BVES were set to Congenital heart disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BRCA2	Zornitza Stark Source Expert Review Red was added to BRCA2. Source BabySeq Category A gene was added to BRCA2. Source BabySeq Category C gene was added to BRCA2. Mode of inheritance for gene BRCA2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Fanconi anemia, complementation group D1; Breast-ovarian cancer, familial, 2 for gene: BRCA2 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BRCA1	Zornitza Stark gene: BRCA1 was added gene: BRCA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRCA1 were set to Breast-ovarian cancer, familial, 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BPGM	Zornitza Stark gene: BPGM was added gene: BPGM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: BPGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BPGM were set to Erythrocytosis due to bisphosphoglycerate mutase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BNC2	Zornitza Stark gene: BNC2 was added gene: BNC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BNC2 were set to Total anomalous pulmonary venous return
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BLOC1S6	Zornitza Stark gene: BLOC1S6 was added gene: BLOC1S6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BLOC1S3	Zornitza Stark gene: BLOC1S3 was added gene: BLOC1S3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BDNF	Zornitza Stark gene: BDNF was added gene: BDNF was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: BDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BDNF were set to Central hypoventilation syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BCL9	Zornitza Stark gene: BCL9 was added gene: BCL9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: BCL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BCL9 were set to Congenital heart disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BARD1	Zornitza Stark gene: BARD1 was added gene: BARD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: BARD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BARD1 were set to Tetralogy of Fallot
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BANF1	Zornitza Stark gene: BANF1 was added gene: BANF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BANF1 were set to Progeroid syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BAG3	Zornitza Stark gene: BAG3 was added gene: BAG3 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar; Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	B9D2	Zornitza Stark gene: B9D2 was added gene: B9D2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B9D2 were set to Meckel syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	B4GALT1	Zornitza Stark gene: B4GALT1 was added gene: B4GALT1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B4GALT1 were set to CDG syndrome type IId
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	B3GAT3	Zornitza Stark gene: B3GAT3 was added gene: B3GAT3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	AXL	Zornitza Stark gene: AXL was added gene: AXL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AXL were set to Hypogonadotropic hypogonadism
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ATR	Zornitza Stark gene: ATR was added gene: ATR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATR were set to Seckel syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ATP6AP2	Zornitza Stark gene: ATP6AP2 was added gene: ATP6AP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP6AP2 were set to X-linked recessive intellectual deficit - epilepsy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ATP1A3	Zornitza Stark gene: ATP1A3 was added gene: ATP1A3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATP1A3 were set to Rapid-onset dystonia-parkinsonism
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ATN1	Zornitza Stark gene: ATN1 was added gene: ATN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATN1 were set to Dentatorubral-pallidoluysian atrophy 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ATIC	Zornitza Stark gene: ATIC was added gene: ATIC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATIC were set to AICA-Ribosiduria
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ASNS	Zornitza Stark gene: ASNS was added gene: ASNS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASNS were set to Microcephaly, intellectual disability, cerebral atrophy & intractable seizures
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ASCL1	Zornitza Stark gene: ASCL1 was added gene: ASCL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ASCL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ASCL1 were set to Congenital central hypoventilation
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ARSE	Zornitza Stark gene: ARSE was added gene: ARSE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ARL13B	Zornitza Stark gene: ARL13B was added gene: ARL13B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL13B were set to Joubert syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ARID1A	Zornitza Stark gene: ARID1A was added gene: ARID1A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ARID1A were set to Coffin-Siris syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ARHGEF9	Zornitza Stark gene: ARHGEF9 was added gene: ARHGEF9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARHGEF9 were set to Hyperekplexia and epilepsy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ARHGAP31	Zornitza Stark gene: ARHGAP31 was added gene: ARHGAP31 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ARHGAP31 were set to Syndromic cutis aplasia & limb anomalies
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	APP	Zornitza Stark gene: APP was added gene: APP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APP were set to Alzheimer disease 1, familial
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	APOE	Zornitza Stark gene: APOE was added gene: APOE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: APOE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOE were set to Sea-blue histiocyte disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	AP1S3	Zornitza Stark gene: AP1S3 was added gene: AP1S3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AP1S3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AP1S3 were set to Pustular psoriasis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ANO5	Zornitza Stark gene: ANO5 was added gene: ANO5 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: ANO5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANO5 were set to Muscular dystrophy, limb-girdle, type 2L; Gnathodiaphyseal dysplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ANKRD1	Zornitza Stark gene: ANKRD1 was added gene: ANKRD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANKRD1 were set to Cardiomyopathy, hypertrophic; Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	AMPD1	Zornitza Stark gene: AMPD1 was added gene: AMPD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMPD1 were set to Adenosine monophosphate deaminase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	AMACR	Zornitza Stark gene: AMACR was added gene: AMACR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency; Bile acid synthesis defect, congenital, 4
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ALG2	Zornitza Stark gene: ALG2 was added gene: ALG2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG2 were set to Congenital disorder of glycosylation, type Ii
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ALG11	Zornitza Stark gene: ALG11 was added gene: ALG11 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG11 were set to Congenital disorder of glycosylation type 1P
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ALDOA	Zornitza Stark gene: ALDOA was added gene: ALDOA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOA were set to Aldolase A deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ALDH4A1	Zornitza Stark gene: ALDH4A1 was added gene: ALDH4A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH4A1 were set to Hyperprolinemia, type II
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ALDH1A2	Zornitza Stark gene: ALDH1A2 was added gene: ALDH1A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ALDH1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ALDH1A2 were set to Tetralogy of Fallot
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	AKT3	Zornitza Stark gene: AKT3 was added gene: AKT3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	AKT2	Zornitza Stark gene: AKT2 was added gene: AKT2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AKT2 were set to Severe insulin resistance and diabetes mellitus
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	AKAP9	Zornitza Stark gene: AKAP9 was added gene: AKAP9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AKAP9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AKAP9 were set to Long QT syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	AK1	Zornitza Stark gene: AK1 was added gene: AK1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AK1 were set to Hemolytic anemia due to adenylate kinase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	AHSP	Zornitza Stark gene: AHSP was added gene: AHSP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AHSP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHSP were set to Thalassaemia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	AGTR1	Zornitza Stark gene: AGTR1 was added gene: AGTR1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	AGT	Zornitza Stark gene: AGT was added gene: AGT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGT were set to Renal tubular dysgenesis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	AGPS	Zornitza Stark gene: AGPS was added gene: AGPS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ADAMTS2	Zornitza Stark gene: ADAMTS2 was added gene: ADAMTS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome VIIc
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ADAM17	Zornitza Stark gene: ADAM17 was added gene: ADAM17 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAM17 were set to Neonatal inflammatory skin and bowel disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ACVR2B	Zornitza Stark gene: ACVR2B was added gene: ACVR2B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ACVR2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACVR2B were set to Left-right axis malformation
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ACTN2	Zornitza Stark gene: ACTN2 was added gene: ACTN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTN2 were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ACTC1	Zornitza Stark gene: ACTC1 was added gene: ACTC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTC1 were set to Atrial septal defect; Cardiomyopathy, familial hypertrophic; Left ventricular noncompaction; Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ACTB	Zornitza Stark gene: ACTB was added gene: ACTB was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome; Neutrophil dysfunction and recurrent infection
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ACTA1	Zornitza Stark gene: ACTA1 was added gene: ACTA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTA1 were set to Nemaline myopathy; Congenital myopathy with fiber type disproportion
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ACSF3	Zornitza Stark gene: ACSF3 was added gene: ACSF3 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACSF3 were set to 21841779; 30740739 Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ACO2	Zornitza Stark gene: ACO2 was added gene: ACO2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACO2 were set to Cerebellar-retinal degeneration, infantile
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ACBD5	Zornitza Stark gene: ACBD5 was added gene: ACBD5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ACBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACBD5 were set to Thrombocytopaenia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ACADSB	Zornitza Stark gene: ACADSB was added gene: ACADSB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADSB were set to 2-Methylbutyryl-CoA dehydrogenase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ACADS	Zornitza Stark gene: ACADS was added gene: ACADS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of 201470
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ACADL	Zornitza Stark gene: ACADL was added gene: ACADL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ACADL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADL were set to Sudden infant death
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ABCD4	Zornitza Stark Source Expert Review Red was added to ABCD4. Source BabySeq Category C gene was added to ABCD4. Added phenotypes Methylmalonic aciduria and homocystinuria, cblJ type for gene: ABCD4 Rating Changed from Green List (high evidence) to Red List (low evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ABCC9	Zornitza Stark gene: ABCC9 was added gene: ABCC9 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ABCC9 were set to Atrial fibrillation, familial; Cardiomyopathy, dilated; Hypertrichotic osteochondrodysplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ABCB7	Zornitza Stark gene: ABCB7 was added gene: ABCB7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCB7 were set to Sideroblastic anaemia and ataxia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ABAT	Zornitza Stark gene: ABAT was added gene: ABAT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABAT were set to GABA-transaminase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	AARS2	Zornitza Stark gene: AARS2 was added gene: AARS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AARS2 were set to Leukoencephalopathy, and ovarian failure in females
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	WT1	Zornitza Stark gene: WT1 was added gene: WT1 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: WT1 were set to Denys-Drash syndrome; Wilms tumor, type 1; Frasier syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	VWF	Zornitza Stark gene: VWF was added gene: VWF was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: VWF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VWF were set to von Willebrand disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	VCL	Zornitza Stark gene: VCL was added gene: VCL was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VCL were set to Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TTN	Zornitza Stark gene: TTN was added gene: TTN was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TTN were set to Centronuclear myopathy; Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TPM1	Zornitza Stark gene: TPM1 was added gene: TPM1 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TPM1 were set to Cardiomyopathy, hypertrophic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TNNT2	Zornitza Stark gene: TNNT2 was added gene: TNNT2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNT2 were set to Familial hypertrophic cardiomyopathy; Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TNNI3	Zornitza Stark gene: TNNI3 was added gene: TNNI3 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TNNI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNI3 were set to Familial hypertrophic cardiomyopathy; Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TNNC1	Zornitza Stark gene: TNNC1 was added gene: TNNC1 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNC1 were set to Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TINF2	Zornitza Stark gene: TINF2 was added gene: TINF2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TINF2 were set to Dyskeratosis congenita
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TERT	Zornitza Stark gene: TERT was added gene: TERT was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TERT were set to Dyskeratosis congenita
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TERC	Zornitza Stark gene: TERC was added gene: TERC was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TERC were set to Dyskeratosis congenita
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SNTA1	Zornitza Stark gene: SNTA1 was added gene: SNTA1 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: SNTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SNTA1 were set to Long QT syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SDHC	Zornitza Stark gene: SDHC was added gene: SDHC was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHC were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SDHB	Zornitza Stark gene: SDHB was added gene: SDHB was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHB were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SDHAF2	Zornitza Stark gene: SDHAF2 was added gene: SDHAF2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHAF2 were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCN5A	Zornitza Stark Source Expert Review Amber was added to SCN5A. Source BabySeq Category B gene was added to SCN5A. Mode of inheritance for gene SCN5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Long QT syndrome; Brugada syndrome for gene: SCN5A Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RBM20	Zornitza Stark gene: RBM20 was added gene: RBM20 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PKP2	Zornitza Stark gene: PKP2 was added gene: PKP2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PHOX2B	Zornitza Stark gene: PHOX2B was added gene: PHOX2B was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PHOX2B were set to Central hypoventilation syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PCSK9	Zornitza Stark gene: PCSK9 was added gene: PCSK9 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PCSK9 were set to Hypercholesterolemia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NKX2-5	Zornitza Stark gene: NKX2-5 was added gene: NKX2-5 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NKX2-5 were set to Congenital heart disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYLK	Zornitza Stark gene: MYLK was added gene: MYLK was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYL3	Zornitza Stark gene: MYL3 was added gene: MYL3 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: MYL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYL3 were set to Cardiomyopathy, familial hypertrophic, 8
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYL2	Zornitza Stark gene: MYL2 was added gene: MYL2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYL2 were set to Cardiomyopathy, familial hypertrophic, 10
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYH11	Zornitza Stark gene: MYH11 was added gene: MYH11 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MTHFR	Zornitza Stark gene: MTHFR was added gene: MTHFR was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MCCC1	Zornitza Stark Source Expert Review Amber was added to MCCC1. Source BabySeq Category B gene was added to MCCC1. Added phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency for gene: MCCC1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LMNA	Zornitza Stark gene: LMNA was added gene: LMNA was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LMNA were set to Charcot-Marie-Tooth disease; Emery-Dreifuss muscular dystrophy 2; Dilated cardiomyopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KRIT1	Zornitza Stark gene: KRIT1 was added gene: KRIT1 was added to gNBS. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRIT1 were set to PMID: 30061145, 20301470, 27561926 Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 MIM# 116860
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNQ1	Zornitza Stark Source BabySeq Category B gene was added to KCNQ1. Source Expert Review Amber was added to KCNQ1. Source BabySeq Category A gene was added to KCNQ1. Mode of inheritance for gene KCNQ1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Jervell and Lange-Nielsen syndrome; Long QT syndrome-1 for gene: KCNQ1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNH2	Zornitza Stark gene: KCNH2 was added gene: KCNH2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNH2 were set to Long QT syndrome-2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNE2	Zornitza Stark gene: KCNE2 was added gene: KCNE2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: KCNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNE2 were set to Long QT syndrome-6
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNE1	Zornitza Stark gene: KCNE1 was added gene: KCNE1 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene Mode of inheritance for gene: KCNE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNE1 were set to Long QT syndrome-5; Jervell and Lange-Nielsen syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNA5	Zornitza Stark gene: KCNA5 was added gene: KCNA5 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: KCNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNA5 were set to Atrial fibrillation
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	JUP	Zornitza Stark gene: JUP was added gene: JUP was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene Mode of inheritance for gene: JUP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12; Naxos disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GPD1L	Zornitza Stark gene: GPD1L was added gene: GPD1L was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: GPD1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GPD1L were set to Brugada syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GJA5	Zornitza Stark gene: GJA5 was added gene: GJA5 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJA5 were set to Atrial fibrillation
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GCH1	Zornitza Stark Source Expert Review Amber was added to GCH1. Source BabySeq Category B gene was added to GCH1. Mode of inheritance for gene GCH1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Dystonia, dopa-responsive for gene: GCH1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GABRG2	Zornitza Stark gene: GABRG2 was added gene: GABRG2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category C gene Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRG2 were set to 27864268 Phenotypes for gene: GABRG2 were set to Epileptic encephalopathy, early infantile, 74 MIM# 618396; Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Febrile seizures, familial, 8 MIM# 607681
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DSP	Zornitza Stark Source BabySeq Category B gene was added to DSP. Source Expert Review Amber was added to DSP. Source BabySeq Category A gene was added to DSP. Mode of inheritance for gene DSP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Epidermolysis bullosa, lethal acantholytic; Arrhythmogenic right ventricular dysplasia/cardiomyopathy for gene: DSP Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DSG2	Zornitza Stark gene: DSG2 was added gene: DSG2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular cardiomyopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DSC2	Zornitza Stark gene: DSC2 was added gene: DSC2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: DSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular cardiomyopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DMD	Zornitza Stark Source BabySeq Category B gene was added to DMD. Source Expert Review Amber was added to DMD. Source BabySeq Category A gene was added to DMD. Added phenotypes Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy, dilated for gene: DMD Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DKC1	Zornitza Stark Source Expert Review Amber was added to DKC1. Source BabySeq Category B gene was added to DKC1. Added phenotypes Dyskeratosis congenita for gene: DKC1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DES	Zornitza Stark gene: DES was added gene: DES was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DES were set to Myopathy, myofibrillar; Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CRYAB	Zornitza Stark gene: CRYAB was added gene: CRYAB was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene Mode of inheritance for gene: CRYAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CRYAB were set to Myofibrillar myopathy; Cardiomyopathy, dilated
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CP	Zornitza Stark gene: CP was added gene: CP was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CP were set to Aceruloplasminaemia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CDKN2A	Zornitza Stark gene: CDKN2A was added gene: CDKN2A was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDKN2A were set to Melanoma
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CACNA1C	Zornitza Stark Source Expert Review Amber was added to CACNA1C. Source BabySeq Category B gene was added to CACNA1C. Added phenotypes Brugada syndrome for gene: CACNA1C Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BMPR2	Zornitza Stark gene: BMPR2 was added gene: BMPR2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	AIP	Zornitza Stark gene: AIP was added gene: AIP was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AIP were set to Pituitary adenoma
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ACTA2	Zornitza Stark gene: ACTA2 was added gene: ACTA2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ZNF469	Zornitza Stark gene: ZNF469 was added gene: ZNF469 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ZMPSTE24	Zornitza Stark gene: ZMPSTE24 was added gene: ZMPSTE24 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ZIC3	Zornitza Stark gene: ZIC3 was added gene: ZIC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZIC3 were set to Heterotaxy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ZIC2	Zornitza Stark gene: ZIC2 was added gene: ZIC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZIC2 were set to Holoprosencephaly-5
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ZEB2	Zornitza Stark gene: ZEB2 was added gene: ZEB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ZAP70	Zornitza Stark gene: ZAP70 was added gene: ZAP70 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZAP70 were set to ZAP70-related severe combined immunodeficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	XPC	Zornitza Stark gene: XPC was added gene: XPC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPC were set to Xeroderma pigmentosum
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	XPA	Zornitza Stark gene: XPA was added gene: XPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPA were set to Xeroderma pigmentosum
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	XIAP	Zornitza Stark gene: XIAP was added gene: XIAP was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, MIM# 300635
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	WRN	Zornitza Stark gene: WRN was added gene: WRN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WRN were set to Werner syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	WRAP53	Zornitza Stark gene: WRAP53 was added gene: WRAP53 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WRAP53 were set to 32303682; 21205863; 29514627 Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	WHRN	Zornitza Stark gene: WHRN was added gene: WHRN was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WHRN were set to 15841483; 28254438; 17171570; 12833159; 26338283; 20502675; 21738389; 27117407; 29270100; 22147658 Phenotypes for gene: WHRN were set to Usher syndrome, type 2D, MIM# 611383; Deafness, autosomal recessive 31, MIM# 607084
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	WFS1	Zornitza Stark gene: WFS1 was added gene: WFS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WFS1 were set to Wolfram syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	WDR62	Zornitza Stark gene: WDR62 was added gene: WDR62 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	WAS	Zornitza Stark gene: WAS was added gene: WAS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: WAS were set to Neutropenia, severe congenital, X-linked , MIM#300299; Thrombocytopaenia, X-linked, MIM# 313900; Wiskott-Aldrich syndrome, MIM# 301000
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	VPS45	Zornitza Stark gene: VPS45 was added gene: VPS45 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	VPS33B	Zornitza Stark gene: VPS33B was added gene: VPS33B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to Arthrogryposis renal dysfunction cholestasis syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	VPS13B	Zornitza Stark gene: VPS13B was added gene: VPS13B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13B were set to Cohen syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	VPS13A	Zornitza Stark gene: VPS13A was added gene: VPS13A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13A were set to Choreoacanthocytosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	VLDLR	Zornitza Stark gene: VLDLR was added gene: VLDLR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	VIPAS39	Zornitza Stark gene: VIPAS39 was added gene: VIPAS39 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction and cholestasis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	VHL	Zornitza Stark gene: VHL was added gene: VHL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	VDR	Zornitza Stark gene: VDR was added gene: VDR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VDR were set to Vitamin D-dependent rickets
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	VCP	Zornitza Stark gene: VCP was added gene: VCP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VCP were set to Inclusion body myopathy with early-onset paget disease and frontotemporal dementia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	VCAN	Zornitza Stark gene: VCAN was added gene: VCAN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VCAN were set to Wagner syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	VAMP1	Zornitza Stark gene: VAMP1 was added gene: VAMP1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25, MIM# 618323
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	USH2A	Zornitza Stark gene: USH2A was added gene: USH2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USH2A were set to Usher syndrome 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	USH1G	Zornitza Stark gene: USH1G was added gene: USH1G was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USH1G were set to Usher syndrome 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	USH1C	Zornitza Stark gene: USH1C was added gene: USH1C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USH1C were set to Usher syndrome 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	UROS	Zornitza Stark gene: UROS was added gene: UROS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	UROD	Zornitza Stark gene: UROD was added gene: UROD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: UROD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROD were set to Porphyria, hepatoerythropoietic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	UNC13D	Zornitza Stark gene: UNC13D was added gene: UNC13D was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UNC13D were set to Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	UMOD	Zornitza Stark gene: UMOD was added gene: UMOD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: UMOD were set to Nephropathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	UGT1A1	Zornitza Stark gene: UGT1A1 was added gene: UGT1A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	UCP2	Zornitza Stark gene: UCP2 was added gene: UCP2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: UCP2 were set to Hyperinsulinism, ORPHA:276556
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	UBR1	Zornitza Stark gene: UBR1 was added gene: UBR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	UBE2T	Zornitza Stark gene: UBE2T was added gene: UBE2T was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBE2T were set to Fanconi anaemia, complementation group T, MIM# 616435
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TYR	Zornitza Stark gene: TYR was added gene: TYR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to Albinism, oculocutaneous 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TYMP	Zornitza Stark gene: TYMP was added gene: TYMP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TWNK	Zornitza Stark gene: TWNK was added gene: TWNK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TWNK were set to Spinocerebellar ataxia infantile-onset
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TWIST1	Zornitza Stark gene: TWIST1 was added gene: TWIST1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TWIST1 were set to Saethre-Chotzen syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TTR	Zornitza Stark gene: TTR was added gene: TTR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TTPA	Zornitza Stark gene: TTPA was added gene: TTPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TTC7A	Zornitza Stark gene: TTC7A was added gene: TTC7A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC7A were set to Immunodeficiency, combined, with intestinal atresias, MIM#243150
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TTC37	Zornitza Stark gene: TTC37 was added gene: TTC37 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TTC21B	Zornitza Stark gene: TTC21B was added gene: TTC21B was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC21B were set to 25492405; 33875766; 18327258; 21258341 Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Nephronophthisis 12, MIM# 613820
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TSR2	Zornitza Stark gene: TSR2 was added gene: TSR2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TSR2 were set to Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, MIM# 300946
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TSHR	Zornitza Stark gene: TSHR was added gene: TSHR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TSHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSHR were set to Hypothyroidism
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TSHB	Zornitza Stark gene: TSHB was added gene: TSHB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TSEN54	Zornitza Stark gene: TSEN54 was added gene: TSEN54 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 4
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TSC2	Zornitza Stark gene: TSC2 was added gene: TSC2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TSC2 were set to Tuberous sclerosis 2, MIM#613254
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TSC1	Zornitza Stark gene: TSC1 was added gene: TSC1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TSC1 were set to Tuberous sclerosis 1, MIM#191100
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TRPM4	Zornitza Stark gene: TRPM4 was added gene: TRPM4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TRPM4 were set to Cardiac conduction disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TRMU	Zornitza Stark gene: TRMU was added gene: TRMU was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMU were set to Liver failure, transient infantile
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TRIOBP	Zornitza Stark gene: TRIOBP was added gene: TRIOBP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TRIOBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIOBP were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TRIM37	Zornitza Stark gene: TRIM37 was added gene: TRIM37 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM37 were set to Mulibrey nanism syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TRIM32	Zornitza Stark gene: TRIM32 was added gene: TRIM32 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TREX1	Zornitza Stark gene: TREX1 was added gene: TREX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TRAPPC2	Zornitza Stark gene: TRAPPC2 was added gene: TRAPPC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TPP1	Zornitza Stark gene: TPP1 was added gene: TPP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were set to Neuronal ceroid lipofuscinosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TPO	Zornitza Stark gene: TPO was added gene: TPO was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TPM3	Zornitza Stark gene: TPM3 was added gene: TPM3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TPM3 were set to Nemaline myopathy; Congenital fiber-type disproportion myopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TPM2	Zornitza Stark gene: TPM2 was added gene: TPM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TPM2 were set to Nemaline myopathy; Arthrogryposis multiplex congenita, distal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TP53	Zornitza Stark gene: TP53 was added gene: TP53 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TP53 were set to Li-Fraumeni syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TNNT3	Zornitza Stark gene: TNNT3 was added gene: TNNT3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNT3 were set to Arthyrgryposis, distal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TNNT1	Zornitza Stark gene: TNNT1 was added gene: TNNT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNNT1 were set to Nemaline myopathy, Amish type
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TNNI2	Zornitza Stark gene: TNNI2 was added gene: TNNI2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNI2 were set to Distal arthrogryposis syndrome 2b
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TNFSF11	Zornitza Stark gene: TNFSF11 was added gene: TNFSF11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TNFRSF11B	Zornitza Stark gene: TNFRSF11B was added gene: TNFRSF11B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF11B were set to Paget disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TNFRSF11A	Zornitza Stark gene: TNFRSF11A was added gene: TNFRSF11A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 - MIM# 612301
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TMPRSS3	Zornitza Stark gene: TMPRSS3 was added gene: TMPRSS3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TMPRSS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMPRSS3 were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TMIE	Zornitza Stark gene: TMIE was added gene: TMIE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TMIE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMIE were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TMEM67	Zornitza Stark gene: TMEM67 was added gene: TMEM67 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to Joubert syndrome; Meckel syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TMEM43	Zornitza Stark gene: TMEM43 was added gene: TMEM43 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TMC1	Zornitza Stark gene: TMC1 was added gene: TMC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TMC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMC1 were set to Deafness
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TK2	Zornitza Stark gene: TK2 was added gene: TK2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TIMM8A	Zornitza Stark gene: TIMM8A was added gene: TIMM8A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TIMM8A were set to Mohr-Tranebjaerg syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	THRB	Zornitza Stark gene: THRB was added gene: THRB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: THRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: THRB were set to Thyroid hormone resistance
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	THRA	Zornitza Stark gene: THRA was added gene: THRA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: THRA were set to Hypothyroidism, congenital, nongoitrous, 6
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TH	Zornitza Stark gene: TH was added gene: TH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TH were set to Tyrosine hydroxylase deficiency, MIM#605407
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TGM5	Zornitza Stark gene: TGM5 was added gene: TGM5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TGM5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TGM5 were set to Peeling skin syndrome, acral type
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TGM1	Zornitza Stark gene: TGM1 was added gene: TGM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TGFBR2	Zornitza Stark gene: TGFBR2 was added gene: TGFBR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TGFBR1	Zornitza Stark gene: TGFBR1 was added gene: TGFBR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TG	Zornitza Stark gene: TG was added gene: TG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TFG	Zornitza Stark gene: TFG was added gene: TFG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TFAP2B	Zornitza Stark gene: TFAP2B was added gene: TFAP2B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TFAP2B were set to Char syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TFAP2A	Zornitza Stark gene: TFAP2A was added gene: TFAP2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TFAP2A were set to Branchiooculofacial syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TECTA	Zornitza Stark gene: TECTA was added gene: TECTA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TECTA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TECTA were set to Deafness
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TCOF1	Zornitza Stark gene: TCOF1 was added gene: TCOF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TCIRG1	Zornitza Stark gene: TCIRG1 was added gene: TCIRG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCIRG1 were set to Osteopetrosis, infantile malignant
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TCN2	Zornitza Stark gene: TCN2 was added gene: TCN2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TCF3	Zornitza Stark gene: TCF3 was added gene: TCF3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TCF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TCF3 were set to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TBX19	Zornitza Stark gene: TBX19 was added gene: TBX19 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency, MIM#201400
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TBX5	Zornitza Stark gene: TBX5 was added gene: TBX5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TBX5 were set to Holt-Oram syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TBX1	Zornitza Stark gene: TBX1 was added gene: TBX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TBX1 were set to DiGeorge syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TBC1D24	Zornitza Stark gene: TBC1D24 was added gene: TBC1D24 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D24 were set to Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TAZ	Zornitza Stark gene: TAZ was added gene: TAZ was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAZ were set to Barth syndrome, MIM#302060
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	TAT	Zornitza Stark gene: TAT was added gene: TAT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAT were set to Tyrosinemia, type II, MIM#276600
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SURF1	Zornitza Stark gene: SURF1 was added gene: SURF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SUOX	Zornitza Stark gene: SUOX was added gene: SUOX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUOX were set to Sulphite oxidase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SUCLG1	Zornitza Stark gene: SUCLG1 was added gene: SUCLG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SUCLA2	Zornitza Stark gene: SUCLA2 was added gene: SUCLA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	STXBP2	Zornitza Stark gene: STXBP2 was added gene: STXBP2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STXBP2 were set to Haemophagocytic lymphohistiocytosis, MIM#613101
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	STXBP1	Zornitza Stark gene: STXBP1 was added gene: STXBP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: STXBP1 were set to Epileptic encephalopathy, early infantile
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	STX11	Zornitza Stark gene: STX11 was added gene: STX11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STX11 were set to Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	STS	Zornitza Stark gene: STS was added gene: STS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: STS were set to Ichthyosis, X-linked
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	STRC	Zornitza Stark gene: STRC was added gene: STRC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STRC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRC were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	STRA6	Zornitza Stark gene: STRA6 was added gene: STRA6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRA6 were set to Microphthalmia, syndromic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	STK11	Zornitza Stark gene: STK11 was added gene: STK11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: STK11 were set to Peutz-Jeghers syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	STAT3	Zornitza Stark gene: STAT3 was added gene: STAT3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: STAT3 were set to Hyper-IgE recurrent infection syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	STAR	Zornitza Stark gene: STAR was added gene: STAR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAR were set to Congenital lipoid adrenal hyperplasia, MIM#201710
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	STAC3	Zornitza Stark gene: STAC3 was added gene: STAC3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to 28411587; 30168660; 23736855; 28777491 Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch, MIM# 255995
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SRP54	Zornitza Stark gene: SRP54 was added gene: SRP54 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SRP54 were set to Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SRCAP	Zornitza Stark gene: SRCAP was added gene: SRCAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SRCAP were set to Floating-Harbor syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SPTLC1	Zornitza Stark gene: SPTLC1 was added gene: SPTLC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SPTB	Zornitza Stark gene: SPTB was added gene: SPTB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SPTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPTB were set to Spherocytosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SPTA1	Zornitza Stark gene: SPTA1 was added gene: SPTA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SPTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPTA1 were set to Elliptocytosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SPRED1	Zornitza Stark gene: SPRED1 was added gene: SPRED1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPRED1 were set to Legius syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SPR	Zornitza Stark gene: SPR was added gene: SPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPR were set to Sepiapterin reductase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SPINK5	Zornitza Stark gene: SPINK5 was added gene: SPINK5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPINK5 were set to Netherton syndrome 1; Netherton syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SPEG	Zornitza Stark gene: SPEG was added gene: SPEG was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEG were set to 26578207; 25087613; 30157964; 29614691; 28624463; 30412272; 31625632; 29474540 Phenotypes for gene: SPEG were set to Centronuclear myopathy 5, MIM# 615959
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SP110	Zornitza Stark gene: SP110 was added gene: SP110 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SOX9	Zornitza Stark gene: SOX9 was added gene: SOX9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SOX9 were set to Campomelic dysplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SOX10	Zornitza Stark gene: SOX10 was added gene: SOX10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SOX10 were set to Shah-Waardenburg syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SNAP25	Zornitza Stark gene: SNAP25 was added gene: SNAP25 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SNAP25 were set to Myasthenic syndrome, congenital, 18, MIM# 616330
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SMPX	Zornitza Stark gene: SMPX was added gene: SMPX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SMPX were set to Deafness, X-linked
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SMPD1	Zornitza Stark gene: SMPD1 was added gene: SMPD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type B; Niemann-Pick disease, type A
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SMN1	Zornitza Stark gene: SMN1 was added gene: SMN1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMN1 were set to Spinal muscular atrophy type 1, 253300; Spinal muscular atrophy type 2, 253550; Spinal muscular atrophy type 3, 253400
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SMC1A	Zornitza Stark gene: SMC1A was added gene: SMC1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMC1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SMARCAL1	Zornitza Stark gene: SMARCAL1 was added gene: SMARCAL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SMAD4	Zornitza Stark gene: SMAD4 was added gene: SMAD4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD4 were set to Juvenile polyposis syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SMAD3	Zornitza Stark gene: SMAD3 was added gene: SMAD3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLX4	Zornitza Stark gene: SLX4 was added gene: SLX4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLX4 were set to Fanconi anaemia, complementation group P, MIM# 613951
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLCO2A1	Zornitza Stark gene: SLCO2A1 was added gene: SLCO2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLCO2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLCO2A1 were set to 22331663; 27134495; 33852188; 23509104 Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC9A6	Zornitza Stark gene: SLC9A6 was added gene: SLC9A6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC9A6 were set to Christianson syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC7A9	Zornitza Stark gene: SLC7A9 was added gene: SLC7A9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC7A9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC7A9 were set to Cystinuria
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC7A7	Zornitza Stark gene: SLC7A7 was added gene: SLC7A7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC6A8	Zornitza Stark gene: SLC6A8 was added gene: SLC6A8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC6A8 were set to Creatine deficiency syndrome, X-linked
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC6A5	Zornitza Stark gene: SLC6A5 was added gene: SLC6A5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, MIM#614618
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC6A19	Zornitza Stark gene: SLC6A19 was added gene: SLC6A19 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: SLC6A19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A19 were set to Hartnup disorder, MIM # 234500
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC52A3	Zornitza Stark gene: SLC52A3 was added gene: SLC52A3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Fazio-Londe disease, MIM#211500
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC52A2	Zornitza Stark gene: SLC52A2 was added gene: SLC52A2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC5A5	Zornitza Stark gene: SLC5A5 was added gene: SLC5A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC5A5 were set to Thyroid dyshormonogenesis 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC5A2	Zornitza Stark gene: SLC5A2 was added gene: SLC5A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC5A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC5A2 were set to Renal glucosuria
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC5A1	Zornitza Stark gene: SLC5A1 was added gene: SLC5A1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption, MIM# 606824
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC4A11	Zornitza Stark gene: SLC4A11 was added gene: SLC4A11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A11 were set to Corneal endothelial dystrophy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC4A1	Zornitza Stark gene: SLC4A1 was added gene: SLC4A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC4A1 were set to Spherocytosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC46A1	Zornitza Stark gene: SLC46A1 was added gene: SLC46A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, MIM#
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC45A2	Zornitza Stark gene: SLC45A2 was added gene: SLC45A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC45A2 were set to Oculocutaneous albinism, type IV
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC3A1	Zornitza Stark gene: SLC3A1 was added gene: SLC3A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC3A1 were set to Cystinuria
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC39A8	Zornitza Stark gene: SLC39A8 was added gene: SLC39A8 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn , MIM#16721
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC39A4	Zornitza Stark gene: SLC39A4 was added gene: SLC39A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC37A4	Zornitza Stark gene: SLC37A4 was added gene: SLC37A4 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, MIM#232220
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC35D1	Zornitza Stark gene: SLC35D1 was added gene: SLC35D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC34A3	Zornitza Stark gene: SLC34A3 was added gene: SLC34A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC34A2	Zornitza Stark gene: SLC34A2 was added gene: SLC34A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC34A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC34A2 were set to Pulmonary alveolar microlithiasis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC2A10	Zornitza Stark gene: SLC2A10 was added gene: SLC2A10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC2A1	Zornitza Stark gene: SLC2A1 was added gene: SLC2A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome 2, childhood onset, 612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC27A4	Zornitza Stark gene: SLC27A4 was added gene: SLC27A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC26A4	Zornitza Stark gene: SLC26A4 was added gene: SLC26A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A4 were set to Pendred syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC26A3	Zornitza Stark gene: SLC26A3 was added gene: SLC26A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC26A2	Zornitza Stark gene: SLC26A2 was added gene: SLC26A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A2 were set to Achondrogenesis 1B
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC25A4	Zornitza Stark gene: SLC25A4 was added gene: SLC25A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC25A4 were set to Progressive external ophthalmoplegia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC25A38	Zornitza Stark gene: SLC25A38 was added gene: SLC25A38 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC25A20	Zornitza Stark gene: SLC25A20 was added gene: SLC25A20 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency, MIM#212138
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC25A15	Zornitza Stark gene: SLC25A15 was added gene: SLC25A15 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC25A13	Zornitza Stark gene: SLC25A13 was added gene: SLC25A13 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A13 were set to Citrullinemia, MIM#605814
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC25A1	Zornitza Stark gene: SLC25A1 was added gene: SLC25A1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC22A5	Zornitza Stark gene: SLC22A5 was added gene: SLC22A5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, MIM#212140
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC19A3	Zornitza Stark gene: SLC19A3 was added gene: SLC19A3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A3 were set to Basal ganglia disease, biotin-responsive, MIM#607483
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC19A2	Zornitza Stark gene: SLC19A2 was added gene: SLC19A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC18A3	Zornitza Stark gene: SLC18A3 was added gene: SLC18A3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, MIM# 617239
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC18A2	Zornitza Stark gene: SLC18A2 was added gene: SLC18A2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC17A5	Zornitza Stark gene: SLC17A5 was added gene: SLC17A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC16A2	Zornitza Stark gene: SLC16A2 was added gene: SLC16A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC16A1	Zornitza Stark gene: SLC16A1 was added gene: SLC16A1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC16A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC16A1 were set to Hyperinsulinemic hypoglycemia, familial, 7, MIM# 610021
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC12A6	Zornitza Stark gene: SLC12A6 was added gene: SLC12A6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC12A3	Zornitza Stark gene: SLC12A3 was added gene: SLC12A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A3 were set to Gitelman syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SLC12A1	Zornitza Stark gene: SLC12A1 was added gene: SLC12A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A1 were set to Bartter syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SKI	Zornitza Stark gene: SKI was added gene: SKI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SKI were set to Shprintzen-Goldberg syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SIX3	Zornitza Stark gene: SIX3 was added gene: SIX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SIX3 were set to Holoprosencephaly-2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SIX1	Zornitza Stark gene: SIX1 was added gene: SIX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SIX1 were set to Branchiootorenal syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SIL1	Zornitza Stark gene: SIL1 was added gene: SIL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SI	Zornitza Stark gene: SI was added gene: SI was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SI were set to Sucrase-isomaltase deficiency, congenital, MIM# 222900
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SHH	Zornitza Stark gene: SHH was added gene: SHH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SHH were set to Holoprosencephaly-3
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SHANK3	Zornitza Stark gene: SHANK3 was added gene: SHANK3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHANK3 were set to 17173049; 30842224; 16284256; 20186804; 22892527 Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SH3TC2	Zornitza Stark gene: SH3TC2 was added gene: SH3TC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SH2D1A	Zornitza Stark gene: SH2D1A was added gene: SH2D1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, MIM#308240
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SGSH	Zornitza Stark gene: SGSH was added gene: SGSH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SGCG	Zornitza Stark gene: SGCG was added gene: SGCG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SGCD	Zornitza Stark gene: SGCD was added gene: SGCD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SGCB	Zornitza Stark gene: SGCB was added gene: SGCB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SGCA	Zornitza Stark gene: SGCA was added gene: SGCA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SFTPC	Zornitza Stark gene: SFTPC was added gene: SFTPC was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SFTPC were set to Interstitial lung disease; Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SFTPB	Zornitza Stark gene: SFTPB was added gene: SFTPB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SETX	Zornitza Stark gene: SETX was added gene: SETX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SETX were set to Ataxia-ocular apraxia 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SETBP1	Zornitza Stark gene: SETBP1 was added gene: SETBP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SETBP1 were set to Schinzel-Giedion syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SERPINA1	Zornitza Stark gene: SERPINA1 was added gene: SERPINA1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINA1 were set to Emphysema due to AAT deficiency, OMIM #107400; Antitrypsin alpha 1 deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SELENON	Zornitza Stark gene: SELENON was added gene: SELENON was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine; Myopathy, congenital, with fiber-type disproportion
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SDHD	Zornitza Stark gene: SDHD was added gene: SDHD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHD were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCO2	Zornitza Stark gene: SCO2 was added gene: SCO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCNN1G	Zornitza Stark gene: SCNN1G was added gene: SCNN1G was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I, MIM# 264350
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCNN1B	Zornitza Stark gene: SCNN1B was added gene: SCNN1B was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I MIM# 264350
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCNN1A	Zornitza Stark gene: SCNN1A was added gene: SCNN1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, MIM#264350
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCN8A	Zornitza Stark gene: SCN8A was added gene: SCN8A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN8A were set to Developmental and epileptic encephalopathy 13, MIM#614558
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCN5A	Zornitza Stark gene: SCN5A was added gene: SCN5A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SCN5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN5A were set to Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Long QT syndrome 3 (MIM#603830); Heart block, progressive, type IA, MIM# 113900
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCN4A	Zornitza Stark gene: SCN4A was added gene: SCN4A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN4A were set to Hyperkalemic periodic paralysis, type 2, MIM# 170500; Paramyotonia congenita , MIM#168300; Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Myasthenic syndrome, congenital, 16, MIM# 614198; Hypokalemic periodic paralysis, type 2, MIM# 613345
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCN3A	Zornitza Stark gene: SCN3A was added gene: SCN3A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN3A were set to Developmental and epileptic encephalopathy 62, MIM# 617938
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCN2A	Zornitza Stark gene: SCN2A was added gene: SCN2A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN2A were set to Developmental and epileptic encephalopathy 11, MIM# 613721
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCN1A	Zornitza Stark gene: SCN1A was added gene: SCN1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN1A were set to Dravet syndrome, MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SCN11A	Zornitza Stark gene: SCN11A was added gene: SCN11A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN11A were set to Episodic pain syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SBDS	Zornitza Stark gene: SBDS was added gene: SBDS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBDS were set to Shwachman-Bodian-Diamond syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SAMHD1	Zornitza Stark gene: SAMHD1 was added gene: SAMHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SALL1	Zornitza Stark gene: SALL1 was added gene: SALL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SALL1 were set to Townes-Brocks syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	SACS	Zornitza Stark gene: SACS was added gene: SACS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to Spastic ataxia Charlevoix-Saguenay type
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RYR2	Zornitza Stark gene: RYR2 was added gene: RYR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2; Ventricular tachycardia, catecholaminergic polymorphic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RYR1	Zornitza Stark gene: RYR1 was added gene: RYR1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,BabySeq Category B gene,BabySeq Category C gene,Expert Review Green Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RYR1 were set to Malignant hyperthermia, multiminicore disease MIM#180901
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RUNX2	Zornitza Stark gene: RUNX2 was added gene: RUNX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RUNX2 were set to Cleidocranial dysostosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RSPH9	Zornitza Stark gene: RSPH9 was added gene: RSPH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RSPH4A	Zornitza Stark gene: RSPH4A was added gene: RSPH4A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RS1	Zornitza Stark gene: RS1 was added gene: RS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RS1 were set to Retinoschisis, X linked
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RRM2B	Zornitza Stark gene: RRM2B was added gene: RRM2B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPS6KA3	Zornitza Stark gene: RPS6KA3 was added gene: RPS6KA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPS7	Zornitza Stark gene: RPS7 was added gene: RPS7 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS7 were set to Diamond-Blackfan anaemia 8, MIM# 612563
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPS29	Zornitza Stark gene: RPS29 was added gene: RPS29 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS29 were set to Diamond-Blackfan anaemia 13, MIM# 615909
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPS28	Zornitza Stark gene: RPS28 was added gene: RPS28 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS28 were set to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPS27	Zornitza Stark gene: RPS27 was added gene: RPS27 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPS27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS27 were set to Diamond-Blackfan anaemia 17, MIM# 617409
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPS26	Zornitza Stark gene: RPS26 was added gene: RPS26 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS26 were set to Diamond-Blackfan anaemia, MM#613309
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPS24	Zornitza Stark gene: RPS24 was added gene: RPS24 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS24 were set to Diamond-Blackfan anaemia, MIM#610629
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPS19	Zornitza Stark gene: RPS19 was added gene: RPS19 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS19 were set to Diamond-Blackfan anaemia, MIM#105650
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPS17	Zornitza Stark gene: RPS17 was added gene: RPS17 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS17 were set to Diamond-Blackfan anaemia, MIM#612527
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPS15A	Zornitza Stark gene: RPS15A was added gene: RPS15A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS15A were set to Diamond-Blackfan anaemia 20, MIM# 618313
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPS15	Zornitza Stark gene: RPS15 was added gene: RPS15 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPS15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS15 were set to Diamond-Blackfan anemia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPS10	Zornitza Stark gene: RPS10 was added gene: RPS10 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS10 were set to Diamond-Blackfan anaemia 9, MIM# 613308
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPL5	Zornitza Stark gene: RPL5 was added gene: RPL5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL5 were set to Diamond-Blackfan anaemia, MIM#612561
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPL35A	Zornitza Stark gene: RPL35A was added gene: RPL35A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL35A were set to Diamond-Blackfan anaemia 5, MIM# 612528
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPL35	Zornitza Stark gene: RPL35 was added gene: RPL35 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL35 were set to Diamond-Blackfan anaemia 19 , MIM# 618312
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPL27	Zornitza Stark gene: RPL27 was added gene: RPL27 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPL27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL27 were set to Diamond-Blackfan anaemia 16 , MIM# 617408
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPL26	Zornitza Stark gene: RPL26 was added gene: RPL26 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL26 were set to Diamond-Blackfan anaemia 11 , MIM# 614900
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPL18	Zornitza Stark gene: RPL18 was added gene: RPL18 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL18 were set to Diamond-Blackfan anaemia 18 , MIM# 618310
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPL15	Zornitza Stark gene: RPL15 was added gene: RPL15 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL15 were set to Diamond-Blackfan anaemia 12 , MIM# 615550
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPL11	Zornitza Stark gene: RPL11 was added gene: RPL11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL11 were set to Diamond-Blackfan anaemia, MIM#612562
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPGRIP1L	Zornitza Stark gene: RPGRIP1L was added gene: RPGRIP1L was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1L were set to Joubert syndrome; Meckel syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RPGR	Zornitza Stark gene: RPGR was added gene: RPGR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPGR were set to Retinitis pigmentosa
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ROR2	Zornitza Stark gene: ROR2 was added gene: ROR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ROR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ROR2 were set to Robinow syndrome; Brachydactyly, type B1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RNASEH2C	Zornitza Stark gene: RNASEH2C was added gene: RNASEH2C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RNASEH2B	Zornitza Stark gene: RNASEH2B was added gene: RNASEH2B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RNASEH2A	Zornitza Stark gene: RNASEH2A was added gene: RNASEH2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RMRP	Zornitza Stark gene: RMRP was added gene: RMRP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RFXANK	Zornitza Stark gene: RFXANK was added gene: RFXANK was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFXANK were set to MHC class II deficiency, complementation group B , MIM#209920
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RFWD3	Zornitza Stark gene: RFWD3 was added gene: RFWD3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFWD3 were set to Fanconi anaemia, complementation group W, MIM# 617784
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RETREG1	Zornitza Stark gene: RETREG1 was added gene: RETREG1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RETREG1 were set to 31737055; 31596031; 24327336; 19838196 Phenotypes for gene: RETREG1 were set to MONDO:0013142; Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RET	Zornitza Stark gene: RET was added gene: RET was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB; Multiple endocrine neoplasia IIA
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	REN	Zornitza Stark gene: REN was added gene: REN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: REN were set to Renal tubular dysgenesis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RECQL4	Zornitza Stark gene: RECQL4 was added gene: RECQL4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome; Rapadilino syndrome; Baller-Gerold syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RDX	Zornitza Stark gene: RDX was added gene: RDX was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: RDX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RDX were set to 19215054; 22567349; 15314067; 26226137; 17226784 Phenotypes for gene: RDX were set to Deafness, autosomal recessive 24, MIM# 611022
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RBM8A	Zornitza Stark gene: RBM8A was added gene: RBM8A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBM8A were set to Thrombocytopaenia-absent radius syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RB1	Zornitza Stark gene: RB1 was added gene: RB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RB1 were set to Retinoblastoma
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RASA1	Zornitza Stark gene: RASA1 was added gene: RASA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RAPSN	Zornitza Stark gene: RAPSN was added gene: RAPSN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAPSN were set to Congenital myasthenic syndrome, MIM#616326
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RAI1	Zornitza Stark gene: RAI1 was added gene: RAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAI1 were set to Smith-Magenis syndrome; Potocki-Lupski syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RAG2	Zornitza Stark gene: RAG2 was added gene: RAG2 was added to gNBS. Sources: BEginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAG2 were set to Omenn syndrome, MIM#603554
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RAG1	Zornitza Stark gene: RAG1 was added gene: RAG1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAG1 were set to Omenn syndrome, MIM#603554
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RAF1	Zornitza Stark gene: RAF1 was added gene: RAF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAF1 were set to Noonan syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RAB7A	Zornitza Stark gene: RAB7A was added gene: RAB7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RAB3GAP2	Zornitza Stark gene: RAB3GAP2 was added gene: RAB3GAP2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP2 were set to 20967465; 23420520 Phenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, MIM# 614225
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RAB3GAP1	Zornitza Stark gene: RAB3GAP1 was added gene: RAB3GAP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RAB27A	Zornitza Stark gene: RAB27A was added gene: RAB27A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB27A were set to Griscelli syndrome, MIM#607624
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	RAB23	Zornitza Stark gene: RAB23 was added gene: RAB23 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB23 were set to Carpenter syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	QDPR	Zornitza Stark gene: QDPR was added gene: QDPR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: QDPR were set to Dihydropteridine reductase deficiency, MIM#261630
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PYGM	Zornitza Stark gene: PYGM was added gene: PYGM was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGM were set to McCardle disease MIM# 608455
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PYGL	Zornitza Stark gene: PYGL was added gene: PYGL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGL were set to Glycogen storage disease VI
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PTS	Zornitza Stark gene: PTS was added gene: PTS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, MIM#261640
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PTPRC	Zornitza Stark gene: PTPRC was added gene: PTPRC was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: PTPRC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTPRC were set to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PTPN11	Zornitza Stark gene: PTPN11 was added gene: PTPN11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTPN11 were set to Noonan syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PTH1R	Zornitza Stark gene: PTH1R was added gene: PTH1R was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PTH1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PTF1A	Zornitza Stark gene: PTF1A was added gene: PTF1A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTF1A were set to Pancreatic and cerebellar agenesis, MIM# 609069; Pancreatic agenesis 2, MIM# 615935
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PTEN	Zornitza Stark gene: PTEN was added gene: PTEN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTEN were set to Cowden disease; Bannayan-Riley-Ruvalcaba syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PTCH1	Zornitza Stark gene: PTCH1 was added gene: PTCH1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTCH1 were set to Nevoid basal cell carcinoma syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PSPH	Zornitza Stark gene: PSPH was added gene: PSPH was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency, MIM# 614023
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PSAT1	Zornitza Stark gene: PSAT1 was added gene: PSAT1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSAT1 were set to Phosphoserine aminotransferase deficiency , MIM# 610992
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PSAP	Zornitza Stark gene: PSAP was added gene: PSAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSAP were set to Metachromatic leukodystrophy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PRX	Zornitza Stark gene: PRX was added gene: PRX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PROS1	Zornitza Stark gene: PROS1 was added gene: PROS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PROS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROS1 were set to Protein S deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PROP1	Zornitza Stark gene: PROP1 was added gene: PROP1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2, MIM#262600
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PROKR2	Zornitza Stark gene: PROKR2 was added gene: PROKR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PROC	Zornitza Stark gene: PROC was added gene: PROC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PRKAR1A	Zornitza Stark gene: PRKAR1A was added gene: PRKAR1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAR1A were set to Carney complex
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PRKDC	Zornitza Stark gene: PRKDC was added gene: PRKDC was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PRKDC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRKDC were set to Immunodeficiency 26, with or without neurologic abnormalities, MIM# 615966
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PRF1	Zornitza Stark gene: PRF1 was added gene: PRF1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRF1 were set to Haemophagocytic lymphohistiocytosis, familial, 2, MIM#603553
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PREPL	Zornitza Stark gene: PREPL was added gene: PREPL was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22, MIM# 616224
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PQBP1	Zornitza Stark gene: PQBP1 was added gene: PQBP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PQBP1 were set to Mental retardation
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PPT1	Zornitza Stark gene: PPT1 was added gene: PPT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPT1 were set to Neuronal ceroid lipofuscinosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	POU4F3	Zornitza Stark gene: POU4F3 was added gene: POU4F3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POU4F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: POU4F3 were set to Deafness, autosomal dominant
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	POU3F4	Zornitza Stark gene: POU3F4 was added gene: POU3F4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POU3F4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: POU3F4 were set to Deafness, X-linked
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	POU1F1	Zornitza Stark gene: POU1F1 was added gene: POU1F1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, MIM#613038
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PORCN	Zornitza Stark gene: PORCN was added gene: PORCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PORCN were set to Focal dermal hypoplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	POR	Zornitza Stark gene: POR was added gene: POR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POR were set to Disordered steroidogenesis with and without Antley-Bixler syndrome, MIM#201750
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	POMT2	Zornitza Stark gene: POMT2 was added gene: POMT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	POMT1	Zornitza Stark gene: POMT1 was added gene: POMT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; Walker-Warburg syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	POMGNT1	Zornitza Stark gene: POMGNT1 was added gene: POMGNT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	POLH	Zornitza Stark gene: POLH was added gene: POLH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLH were set to Xeroderma pigmentosum
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	POLG	Zornitza Stark gene: POLG was added gene: POLG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to POLG-Related Ataxia Neuropathy Spectrum Disorders
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PNPO	Zornitza Stark gene: PNPO was added gene: PNPO was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPO were set to Epileptic encephalopathy, neonatal, MIM#610090
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PNKP	Zornitza Stark gene: PNKP was added gene: PNKP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNKP were set to Microcephaly - seizures - developmental delay
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PNKD	Zornitza Stark gene: PNKD was added gene: PNKD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PNKD were set to Paroxysmal nonkinesiogenic dyskinesia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PMP22	Zornitza Stark gene: PMP22 was added gene: PMP22 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PMP22 were set to Charcot-Marie-Tooth disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PMM2	Zornitza Stark gene: PMM2 was added gene: PMM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PLPBP	Zornitza Stark gene: PLPBP was added gene: PLPBP was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLPBP were set to Epilepsy, early-onset, vitamin B6-dependent , MIM#617290
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PLP1	Zornitza Stark gene: PLP1 was added gene: PLP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease; Spastic paraplegia 2, X-linked
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PLOD1	Zornitza Stark gene: PLOD1 was added gene: PLOD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, kyphoscoliotic type
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PLG	Zornitza Stark gene: PLG was added gene: PLG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLG were set to 29548426; 28795768; 10233898; 9242524; 29987869; 21174000 Phenotypes for gene: PLG were set to Hereditary angioedema-4 (HAE4), MIM#619360; Plasminogen deficiency, type I, MIM# 217090
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PLEC	Zornitza Stark gene: PLEC was added gene: PLEC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLEC were set to Muscular dystrophy; Epidermolysis bullosa simplex
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PLCE1	Zornitza Stark gene: PLCE1 was added gene: PLCE1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLCE1 were set to Nephrotic syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PLA2G6	Zornitza Stark gene: PLA2G6 was added gene: PLA2G6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PKLR	Zornitza Stark gene: PKLR was added gene: PKLR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency, MIM#266200
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PKHD1	Zornitza Stark gene: PKHD1 was added gene: PKHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PKD2	Zornitza Stark gene: PKD2 was added gene: PKD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD2 were set to Polycystic kidney disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PKD1	Zornitza Stark gene: PKD1 was added gene: PKD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD1 were set to Polycystic kidney disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PINK1	Zornitza Stark gene: PINK1 was added gene: PINK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PINK1 were set to Parkinson disease 6, early onset
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PIK3CD	Zornitza Stark gene: PIK3CD was added gene: PIK3CD was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3CD were set to Immunodeficiency 14, MIM # 615513
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PIK3R1	Zornitza Stark gene: PIK3R1 was added gene: PIK3R1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive, MIM# 615214; Immunodeficiency 36, MIM# 616005
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PIGA	Zornitza Stark gene: PIGA was added gene: PIGA was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PIGA were set to 32694024; 24706016; 26545172; 24357517; 33333793; 22305531 Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PIEZO2	Zornitza Stark gene: PIEZO2 was added gene: PIEZO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PIEZO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, type 5
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PHYH	Zornitza Stark gene: PHYH was added gene: PHYH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHYH were set to Refsum disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PHKG2	Zornitza Stark gene: PHKG2 was added gene: PHKG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHKG2 were set to Phosphorylase kinase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PHKB	Zornitza Stark gene: PHKB was added gene: PHKB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PHKA2	Zornitza Stark gene: PHKA2 was added gene: PHKA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHKA2 were set to Phosphorylase kinase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PHGDH	Zornitza Stark gene: PHGDH was added gene: PHGDH was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency, MIM# 601815
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PHEX	Zornitza Stark gene: PHEX was added gene: PHEX was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant, MIM# 307800
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PGM3	Zornitza Stark gene: PGM3 was added gene: PGM3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGM3 were set to Immunodeficiency 23, MIM# 615816
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PGM1	Zornitza Stark gene: PGM1 was added gene: PGM1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, MIM# 614921
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PHF6	Zornitza Stark gene: PHF6 was added gene: PHF6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PFKM	Zornitza Stark gene: PFKM was added gene: PFKM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PFKM were set to Glycogen storage disease 7
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PEX7	Zornitza Stark gene: PEX7 was added gene: PEX7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to Rhizomelic chondrodysplasia punctata; Refsum disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PEX6	Zornitza Stark gene: PEX6 was added gene: PEX6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX6 were set to Zellweger syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PEX5	Zornitza Stark gene: PEX5 was added gene: PEX5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX5 were set to Zellweger syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PEX3	Zornitza Stark gene: PEX3 was added gene: PEX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX3 were set to Zellweger syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PEX26	Zornitza Stark gene: PEX26 was added gene: PEX26 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX26 were set to Zellweger syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PEX2	Zornitza Stark gene: PEX2 was added gene: PEX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX2 were set to Zellweger syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PEX13	Zornitza Stark gene: PEX13 was added gene: PEX13 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX13 were set to Zellweger syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PEX12	Zornitza Stark gene: PEX12 was added gene: PEX12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX12 were set to Zellweger syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PEX10	Zornitza Stark gene: PEX10 was added gene: PEX10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX10 were set to Zellweger syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PEX1	Zornitza Stark gene: PEX1 was added gene: PEX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX1 were set to Zellweger syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PDZD7	Zornitza Stark gene: PDZD7 was added gene: PDZD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PDZD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDZD7 were set to Usher syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PDX1	Zornitza Stark gene: PDX1 was added gene: PDX1 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDX1 were set to Pancreatic agenesis, MIM# # 260370
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PDSS2	Zornitza Stark gene: PDSS2 was added gene: PDSS2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDSS2 were set to Coenzyme Q10 deficiency, primary, 3, MIM# 614652
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PDSS1	Zornitza Stark gene: PDSS1 was added gene: PDSS1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, MIM# 614651
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PDHX	Zornitza Stark gene: PDHX was added gene: PDHX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDHX were set to Pyruvate dehydrogenase complex deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PDHA1	Zornitza Stark gene: PDHA1 was added gene: PDHA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PDE4D	Zornitza Stark gene: PDE4D was added gene: PDE4D was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PDE4D were set to Acrodysostosis 2, with or without hormone resistance
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PCNT	Zornitza Stark gene: PCNT was added gene: PCNT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism type 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PCDH15	Zornitza Stark gene: PCDH15 was added gene: PCDH15 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCDH15 were set to Usher syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PCCB	Zornitza Stark gene: PCCB was added gene: PCCB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCB were set to Propionicacidemia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PCCA	Zornitza Stark gene: PCCA was added gene: PCCA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCA were set to Propionic acidaemia, MIM#606054
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PCBD1	Zornitza Stark gene: PCBD1 was added gene: PCBD1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PC	Zornitza Stark gene: PC was added gene: PC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PAX8	Zornitza Stark gene: PAX8 was added gene: PAX8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PAX8 were set to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PAX6	Zornitza Stark gene: PAX6 was added gene: PAX6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PAX6 were set to Aniridia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PAX3	Zornitza Stark gene: PAX3 was added gene: PAX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PAX3 were set to Waardenburg syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PANK2	Zornitza Stark gene: PANK2 was added gene: PANK2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PALB2	Zornitza Stark gene: PALB2 was added gene: PALB2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PALB2 were set to 17200671 Phenotypes for gene: PALB2 were set to Fanconi anemia, complementation group N, MIM# 610832
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PAK3	Zornitza Stark gene: PAK3 was added gene: PAK3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PAK3 were set to Mental retardation syndrome, X-linked
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	PAH	Zornitza Stark gene: PAH was added gene: PAH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAH were set to Phenylketonuria, MIM#261600
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	P2RY12	Zornitza Stark gene: P2RY12 was added gene: P2RY12 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: P2RY12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: P2RY12 were set to 29117459; 11196645; 19237732; 12578987 Phenotypes for gene: P2RY12 were set to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	OXCT1	Zornitza Stark gene: OXCT1 was added gene: OXCT1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM# 245050
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	OTOGL	Zornitza Stark gene: OTOGL was added gene: OTOGL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTOGL were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	OTOF	Zornitza Stark gene: OTOF was added gene: OTOF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OTOF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTOF were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	OTOA	Zornitza Stark gene: OTOA was added gene: OTOA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OTOA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTOA were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	OTC	Zornitza Stark gene: OTC was added gene: OTC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, MIM#311250
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	OSTM1	Zornitza Stark gene: OSTM1 was added gene: OSTM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OSTM1 were set to Osteopetrosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	OSMR	Zornitza Stark gene: OSMR was added gene: OSMR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: OSMR were set to Amyloidosis, primary cutaneous
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ORC1	Zornitza Stark gene: ORC1 was added gene: ORC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	OPA1	Zornitza Stark gene: OPA1 was added gene: OPA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: OPA1 were set to Optic atrophy 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	OFD1	Zornitza Stark gene: OFD1 was added gene: OFD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OFD1 were set to Oral-facial-digital syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	OCRL	Zornitza Stark gene: OCRL was added gene: OCRL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OCRL were set to Lowe oculocerebrorenal syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	OCA2	Zornitza Stark gene: OCA2 was added gene: OCA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OCA2 were set to Albinism, oculocutaneous
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	OBSL1	Zornitza Stark gene: OBSL1 was added gene: OBSL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OBSL1 were set to 3-M syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NTRK1	Zornitza Stark gene: NTRK1 was added gene: NTRK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NTRK1 were set to Congenital insensitivity to pain with anhidrosis MIM#256800
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NSD1	Zornitza Stark gene: NSD1 was added gene: NSD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NSD1 were set to Sotos syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NR5A1	Zornitza Stark gene: NR5A1 was added gene: NR5A1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NR5A1 were set to 46, XX sex reversal 4, MIM# 617480; 46XY sex reversal 3, MIM# 612965
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NR3C2	Zornitza Stark gene: NR3C2 was added gene: NR3C2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: NR3C2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NR3C2 were set to Pseudohypoaldosteronism type I, autosomal dominant , MIM#177735
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NR0B1	Zornitza Stark gene: NR0B1 was added gene: NR0B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NR0B1 were set to Congenital adrenal hypoplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NPHS1	Zornitza Stark gene: NPHS1 was added gene: NPHS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHS1 were set to Congenital nephrotic syndrome, Finnish type
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NPHP4	Zornitza Stark gene: NPHP4 was added gene: NPHP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to Nephronophthisis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NPHP3	Zornitza Stark gene: NPHP3 was added gene: NPHP3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to Nephronophthisis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NPHP1	Zornitza Stark gene: NPHP1 was added gene: NPHP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP1 were set to Nephronophthisis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NPC2	Zornitza Stark gene: NPC2 was added gene: NPC2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2, MIM#607625
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NPC1	Zornitza Stark gene: NPC1 was added gene: NPC1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease type C1, MIM#257220
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NOTCH3	Zornitza Stark gene: NOTCH3 was added gene: NOTCH3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOTCH3 were set to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NOTCH2	Zornitza Stark gene: NOTCH2 was added gene: NOTCH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NOG	Zornitza Stark gene: NOG was added gene: NOG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOG were set to Symphalangism, proximal, 1A
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NNT	Zornitza Stark gene: NNT was added gene: NNT was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, MIM# 614736
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NKX2-1	Zornitza Stark gene: NKX2-1 was added gene: NKX2-1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NIPBL	Zornitza Stark gene: NIPBL was added gene: NIPBL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NIPAL4	Zornitza Stark gene: NIPAL4 was added gene: NIPAL4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NIPAL4 were set to Ichthyosis, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NHLRC1	Zornitza Stark gene: NHLRC1 was added gene: NHLRC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHLRC1 were set to Myoclonic epilepsy of Lafora
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NHEJ1	Zornitza Stark gene: NHEJ1 was added gene: NHEJ1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NGLY1	Zornitza Stark gene: NGLY1 was added gene: NGLY1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NGLY1 were set to Developmental delay, multifocal epilepsy & abnormal liver function
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NF2	Zornitza Stark gene: NF2 was added gene: NF2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF2 were set to Neurofibromatosis 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NF1	Zornitza Stark gene: NF1 was added gene: NF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NEUROG3	Zornitza Stark gene: NEUROG3 was added gene: NEUROG3 was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEUROG3 were set to 32574610; 16855267; 21490072; 28724572 Phenotypes for gene: NEUROG3 were set to Diarrhoea 4, malabsorptive, congenital, MIM# 610370
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NEU1	Zornitza Stark gene: NEU1 was added gene: NEU1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEU1 were set to Sialidosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NEK8	Zornitza Stark gene: NEK8 was added gene: NEK8 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK8 were set to 26967905; 33131162; 26697755; 23274954; 26862157; 31633649; 23418306 Phenotypes for gene: NEK8 were set to MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, MIM# 615415
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NEK1	Zornitza Stark gene: NEK1 was added gene: NEK1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK1 were set to 22499340; 21211617; 28123176; 25492405 Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NEFL	Zornitza Stark gene: NEFL was added gene: NEFL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEFL were set to Charcot-Marie-Tooth disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NEB	Zornitza Stark gene: NEB was added gene: NEB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEB were set to Nemaline myopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NDP	Zornitza Stark gene: NDP was added gene: NDP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDP were set to Norrie disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NCF4	Zornitza Stark gene: NCF4 was added gene: NCF4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: NCF4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NCF4 were set to Chronic granulomatous disease 3, autosomal recessive, MIM# 613960
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NCF2	Zornitza Stark gene: NCF2 was added gene: NCF2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NCF2 were set to Chronic granulomatous disease, MIM#233710
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NCF1	Zornitza Stark gene: NCF1 was added gene: NCF1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NCF1 were set to Chronic granulomatous disease, MIM#233700
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NBN	Zornitza Stark gene: NBN was added gene: NBN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, MIM#251260
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NAGS	Zornitza Stark gene: NAGS was added gene: NAGS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGS were set to N-acetylglutamate synthetase deficiency, MIM#237310
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NAGLU	Zornitza Stark gene: NAGLU was added gene: NAGLU was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGLU were set to Sanfilippo syndrome type B
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	NAGA	Zornitza Stark gene: NAGA was added gene: NAGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGA were set to N-acetylgalactosaminidase alpha deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYSM1	Zornitza Stark gene: MYSM1 was added gene: MYSM1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM# 618116
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYO9A	Zornitza Stark gene: MYO9A was added gene: MYO9A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYO7A	Zornitza Stark gene: MYO7A was added gene: MYO7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO7A were set to Usher syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYO6	Zornitza Stark gene: MYO6 was added gene: MYO6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYO6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO6 were set to Deafness
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYO3A	Zornitza Stark gene: MYO3A was added gene: MYO3A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYO3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO3A were set to Sensorineural hearing loss
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYO15A	Zornitza Stark gene: MYO15A was added gene: MYO15A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYO15A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO15A were set to Sensorineural hearing loss
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYH9	Zornitza Stark gene: MYH9 was added gene: MYH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and progressive sensorineural deafness
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYH7	Zornitza Stark gene: MYH7 was added gene: MYH7 was added to gNBS. Sources: BabySeq Category B gene,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH7 were set to Laing early-onset distal myopathy, MONDO:0008050; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Dilated cardiomyopathy 1S, MONDO:0013262; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYH3	Zornitza Stark gene: MYH3 was added gene: MYH3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH3 were set to Arthrogryposis, distal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYH2	Zornitza Stark gene: MYH2 was added gene: MYH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYH14	Zornitza Stark gene: MYH14 was added gene: MYH14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH14 were set to Deafness, autosomal dominant
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYCN	Zornitza Stark gene: MYCN was added gene: MYCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYCN were set to Feingold syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MYBPC1	Zornitza Stark gene: MYBPC1 was added gene: MYBPC1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYBPC1 were set to 23873045; 20045868; 22610851; 26661508; 31025394; 31264822 Phenotypes for gene: MYBPC1 were set to Myopathy, congenital, with tremor MIM#618524; Lethal congenital contracture syndrome 4, MIM# 614915; Arthrogryposis, distal, type 1B 614335
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MVK	Zornitza Stark gene: MVK was added gene: MVK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MVK were set to Hyperimmunoglobulin D and periodic fever syndrome, MIM#610377
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MUTYH	Zornitza Stark gene: MUTYH was added gene: MUTYH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MUTYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUTYH were set to MUTYH-associated polyposis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MUT	Zornitza Stark Source BabySeq Category A gene was added to MUT. Added phenotypes Methylmalonic aciduria, mut(0) type for gene: MUT
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MUSK	Zornitza Stark gene: MUSK was added gene: MUSK was added to gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUSK were set to Congenital myasthenic syndrome, MIM#616325
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MTTP	Zornitza Stark gene: MTTP was added gene: MTTP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTTP were set to Abetalipoproteinaemia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MTRR	Zornitza Stark gene: MTRR was added gene: MTRR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTRR were set to Methylmalonic aciduria and homocystinuria, MIM#236270
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MTR	Zornitza Stark gene: MTR was added gene: MTR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTR were set to Methylmalonic aciduria and homocystinuria, MIM#250940
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MTM1	Zornitza Stark gene: MTM1 was added gene: MTM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MSX2	Zornitza Stark gene: MSX2 was added gene: MSX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MSX2 were set to Parietal foramina 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MRAP	Zornitza Stark gene: MRAP was added gene: MRAP was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, MIM# 607398
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MPZ	Zornitza Stark gene: MPZ was added gene: MPZ was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MPZ were set to Charcot-Marie-Tooth disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MPV17	Zornitza Stark gene: MPV17 was added gene: MPV17 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome, hepatic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MPL	Zornitza Stark gene: MPL was added gene: MPL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPL were set to Amegakaryocytic thrombocytopaenia, congenital
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MPI	Zornitza Stark gene: MPI was added gene: MPI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPI were set to Congenital disorder of glycosylation 1b
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MPDU1	Zornitza Stark gene: MPDU1 was added gene: MPDU1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDU1 were set to 11733564; 11733556; 31741824; 29721919 Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MOCS2	Zornitza Stark gene: MOCS2 was added gene: MOCS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MOCS1	Zornitza Stark gene: MOCS1 was added gene: MOCS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency, MIM#252150
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MUT	Zornitza Stark gene: MUT was added gene: MUT was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, MIM# 251000
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MMADHC	Zornitza Stark gene: MMADHC was added gene: MMADHC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, MIM#277410
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MMACHC	Zornitza Stark gene: MMACHC was added gene: MMACHC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MMAB	Zornitza Stark gene: MMAB was added gene: MMAB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, MIM#251110
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MMAA	Zornitza Stark gene: MMAA was added gene: MMAA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, MIM#251100
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MLYCD	Zornitza Stark gene: MLYCD was added gene: MLYCD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MLC1	Zornitza Stark gene: MLC1 was added gene: MLC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MKS1	Zornitza Stark gene: MKS1 was added gene: MKS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKS1 were set to Meckel syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MKKS	Zornitza Stark gene: MKKS was added gene: MKKS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MITF	Zornitza Stark gene: MITF was added gene: MITF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MITF were set to Waardenburg syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MGP	Zornitza Stark gene: MGP was added gene: MGP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MGP were set to Keutel syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MGAT2	Zornitza Stark gene: MGAT2 was added gene: MGAT2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MGAT2 were set to 22105986; 31420886; 11228641; 33044030; 8808595 Phenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MFSD8	Zornitza Stark gene: MFSD8 was added gene: MFSD8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MFN2	Zornitza Stark gene: MFN2 was added gene: MFN2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MEN1	Zornitza Stark gene: MEN1 was added gene: MEN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia I
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MEGF10	Zornitza Stark gene: MEGF10 was added gene: MEGF10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MEFV	Zornitza Stark gene: MEFV was added gene: MEFV was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEFV were set to Mediterranean fever, familial
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MED25	Zornitza Stark gene: MED25 was added gene: MED25 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 25792360; 32816121 Phenotypes for gene: MED25 were set to Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MED12	Zornitza Stark gene: MED12 was added gene: MED12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MED12 were set to Intellectual disability
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MECP2	Zornitza Stark gene: MECP2 was added gene: MECP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MECP2 were set to Rett syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MCPH1	Zornitza Stark gene: MCPH1 was added gene: MCPH1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MCOLN1	Zornitza Stark gene: MCOLN1 was added gene: MCOLN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MCFD2	Zornitza Stark gene: MCFD2 was added gene: MCFD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCFD2 were set to Factor V and Factor VIII deficiency, combined
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MCCC2	Zornitza Stark gene: MCCC2 was added gene: MCCC2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM# 210210
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MCCC1	Zornitza Stark gene: MCCC1 was added gene: MCCC1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency, MIM# 210200
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MC2R	Zornitza Stark gene: MC2R was added gene: MC2R was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MBTPS2	Zornitza Stark gene: MBTPS2 was added gene: MBTPS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MBTPS2 were set to Ichthyosis follicularis, alopecia & photophobia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MARVELD2	Zornitza Stark gene: MARVELD2 was added gene: MARVELD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MARVELD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MARVELD2 were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MAP2K2	Zornitza Stark gene: MAP2K2 was added gene: MAP2K2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MAP2K1	Zornitza Stark gene: MAP2K1 was added gene: MAP2K1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MAN2B1	Zornitza Stark gene: MAN2B1 was added gene: MAN2B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MAGI2	Zornitza Stark gene: MAGI2 was added gene: MAGI2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAGI2 were set to Infantile spasms
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MAFB	Zornitza Stark gene: MAFB was added gene: MAFB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	MAD2L2	Zornitza Stark gene: MAD2L2 was added gene: MAD2L2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# 617243
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LYST	Zornitza Stark gene: LYST was added gene: LYST was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, MIM#214500
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LTBP4	Zornitza Stark gene: LTBP4 was added gene: LTBP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LRTOMT	Zornitza Stark gene: LRTOMT was added gene: LRTOMT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRTOMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRTOMT were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LRSAM1	Zornitza Stark gene: LRSAM1 was added gene: LRSAM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRSAM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Tooth disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LRRC6	Zornitza Stark gene: LRRC6 was added gene: LRRC6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRRC6 were set to Primary ciliary dyskinesia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LRPPRC	Zornitza Stark gene: LRPPRC was added gene: LRPPRC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRPPRC were set to Leigh syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LRP5	Zornitza Stark gene: LRP5 was added gene: LRP5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LRP5 were set to Osteopetrosis, autosomal dominant; Osteoporosis-pseudoglioma syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LRP4	Zornitza Stark gene: LRP4 was added gene: LRP4 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome; Myasthenic syndrome, congenital, 17 , MIM#616304
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LRP2	Zornitza Stark gene: LRP2 was added gene: LRP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LOXHD1	Zornitza Stark gene: LOXHD1 was added gene: LOXHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LOXHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LOXHD1 were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LMX1B	Zornitza Stark gene: LMX1B was added gene: LMX1B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LMX1B were set to Nail patella syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LMOD3	Zornitza Stark gene: LMOD3 was added gene: LMOD3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMOD3 were set to Nemaline myopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LMBRD1	Zornitza Stark gene: LMBRD1 was added gene: LMBRD1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, MIM#277380
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LITAF	Zornitza Stark gene: LITAF was added gene: LITAF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LITAF were set to Charcot-Marie-Tooth disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LIPA	Zornitza Stark gene: LIPA was added gene: LIPA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPA were set to Wolman syndrome, MIM#278000
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LIG4	Zornitza Stark gene: LIG4 was added gene: LIG4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIG4 were set to Severe combined immunodeficiency with sensitivity to ionizing radiation
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LIFR	Zornitza Stark gene: LIFR was added gene: LIFR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LHX4	Zornitza Stark gene: LHX4 was added gene: LHX4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: LHX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4, MIM# 262700
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LHX3	Zornitza Stark gene: LHX3 was added gene: LHX3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, MIM#221750
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LHFPL5	Zornitza Stark gene: LHFPL5 was added gene: LHFPL5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LHFPL5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LHFPL5 were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LEPR	Zornitza Stark gene: LEPR was added gene: LEPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LDLR	Zornitza Stark gene: LDLR was added gene: LDLR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LDLR were set to Hypercholesterolemia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LARS2	Zornitza Stark gene: LARS2 was added gene: LARS2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARS2 were set to Perrault syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LARGE1	Zornitza Stark gene: LARGE1 was added gene: LARGE1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARGE1 were set to Walker-Warburg syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LAMTOR2	Zornitza Stark gene: LAMTOR2 was added gene: LAMTOR2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: LAMTOR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMTOR2 were set to Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LAMP2	Zornitza Stark gene: LAMP2 was added gene: LAMP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: LAMP2 were set to Danon disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LAMC2	Zornitza Stark gene: LAMC2 was added gene: LAMC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LAMB3	Zornitza Stark gene: LAMB3 was added gene: LAMB3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LAMB2	Zornitza Stark gene: LAMB2 was added gene: LAMB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB2 were set to Pierson syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LAMA3	Zornitza Stark gene: LAMA3 was added gene: LAMA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	LAMA2	Zornitza Stark gene: LAMA2 was added gene: LAMA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	L1CAM	Zornitza Stark gene: L1CAM was added gene: L1CAM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: L1CAM were set to X-linked hydrocephalus syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KRT6A	Zornitza Stark gene: KRT6A was added gene: KRT6A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT6A were set to Pachyonychia congenita
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KRT5	Zornitza Stark gene: KRT5 was added gene: KRT5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KRT17	Zornitza Stark gene: KRT17 was added gene: KRT17 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT17 were set to Pachyonychia congenita
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KRT16	Zornitza Stark gene: KRT16 was added gene: KRT16 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT16 were set to Pachyonychia congenita
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KRT14	Zornitza Stark gene: KRT14 was added gene: KRT14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KRAS	Zornitza Stark gene: KRAS was added gene: KRAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRAS were set to Noonan syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KMT2D	Zornitza Stark gene: KMT2D was added gene: KMT2D was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KMT2D were set to Kabuki syndrome 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KLHL41	Zornitza Stark gene: KLHL41 was added gene: KLHL41 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLHL41 were set to Nemaline myopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KLHL40	Zornitza Stark gene: KLHL40 was added gene: KLHL40 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLHL40 were set to Nemaline myopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KLF1	Zornitza Stark gene: KLF1 was added gene: KLF1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLF1 were set to 33339573; 32815883; 32032242; 21055716; 32221653; 31818881 Phenotypes for gene: KLF1 were set to MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KIT	Zornitza Stark gene: KIT was added gene: KIT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIT were set to Piebaldism
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KIF21A	Zornitza Stark gene: KIF21A was added gene: KIF21A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KDM6A	Zornitza Stark gene: KDM6A was added gene: KDM6A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: KDM6A were set to Kabuki syndrome 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCTD7	Zornitza Stark gene: KCTD7 was added gene: KCTD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNT1	Zornitza Stark gene: KCNT1 was added gene: KCNT1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNT1 were set to Developmental and epileptic encephalopathy 14, MIM# 614959
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNQ4	Zornitza Stark gene: KCNQ4 was added gene: KCNQ4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KCNQ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNQ4 were set to Deafness, autosomal dominant
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNQ2	Zornitza Stark gene: KCNQ2 was added gene: KCNQ2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNQ2 were set to Seizures, benign neonatal, 1, MIM# 121200; Developmental and epileptic encephalopathy 7, MIM# 613720
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNQ1	Zornitza Stark gene: KCNQ1 was added gene: KCNQ1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: KCNQ1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KCNQ1 were set to Short QT syndrome 2, MIM# 609621; Long QT syndrome 1, MIM# 192500; Jervell and Lange-Nielsen syndrome, MIM# 220400
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNJ2	Zornitza Stark gene: KCNJ2 was added gene: KCNJ2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNJ2 were set to Andersen cardiodysrhythmic periodic paralysis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNJ11	Zornitza Stark gene: KCNJ11 was added gene: KCNJ11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, MIM#601820
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNJ1	Zornitza Stark gene: KCNJ1 was added gene: KCNJ1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNJ1 were set to Bartter syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KCNA1	Zornitza Stark gene: KCNA1 was added gene: KCNA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNA1 were set to Episodic ataxia type 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KBTBD13	Zornitza Stark gene: KBTBD13 was added gene: KBTBD13 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KBTBD13 were set to Nemaline myopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KAT6B	Zornitza Stark gene: KAT6B was added gene: KAT6B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KAT6B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KAT6B were set to Genitopatellar syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KARS	Zornitza Stark gene: KARS was added gene: KARS was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KARS were set to 30737337; 30715177; 31116475 Phenotypes for gene: KARS were set to deafness with progressive leukodystrophy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	KANSL1	Zornitza Stark gene: KANSL1 was added gene: KANSL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	JAK3	Zornitza Stark gene: JAK3 was added gene: JAK3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, MIM#600802
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	JAG1	Zornitza Stark gene: JAG1 was added gene: JAG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: JAG1 were set to Alagille syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IYD	Zornitza Stark gene: IYD was added gene: IYD was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IYD were set to 18765512; 30240412; 18434651 Phenotypes for gene: IYD were set to Thyroid dyshormonogenesis 4, MIM# 274800
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IVD	Zornitza Stark gene: IVD was added gene: IVD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IVD were set to Isovaleric acidemia, MIM#243500
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ITGB4	Zornitza Stark gene: ITGB4 was added gene: ITGB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ITGB2	Zornitza Stark gene: ITGB2 was added gene: ITGB2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, MIM# 116920
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ITGA3	Zornitza Stark gene: ITGA3 was added gene: ITGA3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ISPD	Zornitza Stark gene: ISPD was added gene: ISPD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IRF6	Zornitza Stark gene: IRF6 was added gene: IRF6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IRF6 were set to van der Woude syndrome MIM# 119300
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IRAK4	Zornitza Stark gene: IRAK4 was added gene: IRAK4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IRAK4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IRAK4 were set to Immunodeficiency 67, MIM# 607676
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IQCB1	Zornitza Stark gene: IQCB1 was added gene: IQCB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	INVS	Zornitza Stark gene: INVS was added gene: INVS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INVS were set to Nephronophthisis 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	INSR	Zornitza Stark gene: INSR was added gene: INSR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INSR were set to Leprechaunism
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	INS	Zornitza Stark gene: INS was added gene: INS was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: INS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: INS were set to Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ILDR1	Zornitza Stark gene: ILDR1 was added gene: ILDR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ILDR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ILDR1 were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IL7R	Zornitza Stark gene: IL7R was added gene: IL7R was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IL2RG	Zornitza Stark gene: IL2RG was added gene: IL2RG was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, MIM#312863
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IL2RB	Zornitza Stark gene: IL2RB was added gene: IL2RB was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity , MIM#618495
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IL10RB	Zornitza Stark gene: IL10RB was added gene: IL10RB was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IL10RA	Zornitza Stark gene: IL10RA was added gene: IL10RA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL10RA were set to Inflammatory bowel disease, MIM#613148
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IKBKG	Zornitza Stark gene: IKBKG was added gene: IKBKG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IKBKG were set to Incontinentia pigmenti 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IGSF1	Zornitza Stark gene: IGSF1 was added gene: IGSF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGSF1 were set to Central hypothyroidism and testicular enlargement
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IGLL1	Zornitza Stark gene: IGLL1 was added gene: IGLL1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IGLL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGLL1 were set to Agammaglobulinaemia 2, MIM# 613500
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IGHMBP2	Zornitza Stark gene: IGHMBP2 was added gene: IGHMBP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGHMBP2 were set to Spinal muscular atrophy with respiratory distress
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IGHM	Zornitza Stark gene: IGHM was added gene: IGHM was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGHM were set to Agammaglobulinaemia 1, MIM# 601495
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IDUA	Zornitza Stark gene: IDUA was added gene: IDUA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, MIM#607014
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	IDS	Zornitza Stark gene: IDS was added gene: IDS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IDS were set to Mucopolysaccharidosis II
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HTRA1	Zornitza Stark gene: HTRA1 was added gene: HTRA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HTRA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HTRA1 were set to CARASIL syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HSPG2	Zornitza Stark gene: HSPG2 was added gene: HSPG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HSPB8	Zornitza Stark gene: HSPB8 was added gene: HSPB8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HSPB8 were set to Charcot-Marie-Tooth disease, axonal, type 2L
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HSD3B7	Zornitza Stark gene: HSD3B7 was added gene: HSD3B7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD3B7 were set to 3 beta-hydroxysteroid dehydrogenase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HSD3B2	Zornitza Stark gene: HSD3B2 was added gene: HSD3B2 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HSD17B4	Zornitza Stark gene: HSD17B4 was added gene: HSD17B4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HSD17B3	Zornitza Stark gene: HSD17B3 was added gene: HSD17B3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HSD17B10	Zornitza Stark gene: HSD17B10 was added gene: HSD17B10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HSD17B10 were set to 17-beta-hydroxysteroid dehydrogenase X deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HRAS	Zornitza Stark gene: HRAS was added gene: HRAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HRAS were set to Costello syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HPS5	Zornitza Stark gene: HPS5 was added gene: HPS5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HPS4	Zornitza Stark gene: HPS4 was added gene: HPS4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HPS3	Zornitza Stark gene: HPS3 was added gene: HPS3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HPS1	Zornitza Stark gene: HPS1 was added gene: HPS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HPRT1	Zornitza Stark gene: HPRT1 was added gene: HPRT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HPD	Zornitza Stark gene: HPD was added gene: HPD was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HPD were set to Hawkinsinuria , MIM#140350; Tyrosinaemia, type III 276710
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HOMER2	Zornitza Stark gene: HOMER2 was added gene: HOMER2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: HOMER2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HOMER2 were set to Autosomal dominant non syndromic deafness
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HNF4A	Zornitza Stark gene: HNF4A was added gene: HNF4A was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM# 616026; Hypoglycaemia, hyperinsulinaemic, MIM#125850
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HNF1A	Zornitza Stark gene: HNF1A was added gene: HNF1A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1A were set to MODY, type III , MIM#600496
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HMGCL	Zornitza Stark gene: HMGCL was added gene: HMGCL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMGCL were set to 3-hydroxy-3-methylglutaric aciduria, MIM#246450
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HLCS	Zornitza Stark gene: HLCS was added gene: HLCS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, MIM#253270
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HK1	Zornitza Stark gene: HK1 was added gene: HK1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HK1 were set to Haemolytic anaemia due to hexokinase deficiency , MIM#235700
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HINT1	Zornitza Stark gene: HINT1 was added gene: HINT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HINT1 were set to Axonal neuropathy with neuromyotonia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HGSNAT	Zornitza Stark gene: HGSNAT was added gene: HGSNAT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis IIIC
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HGF	Zornitza Stark gene: HGF was added gene: HGF was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: HGF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGF were set to Deafness, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HGD	Zornitza Stark gene: HGD was added gene: HGD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGD were set to Alkaptonuria
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HEXB	Zornitza Stark gene: HEXB was added gene: HEXB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HEXA	Zornitza Stark gene: HEXA was added gene: HEXA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXA were set to Tay-Sachs disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HESX1	Zornitza Stark gene: HESX1 was added gene: HESX1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HESX1 were set to Septooptic dysplasia, MIM# 182230
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HDAC8	Zornitza Stark gene: HDAC8 was added gene: HDAC8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HCFC1	Zornitza Stark gene: HCFC1 was added gene: HCFC1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HCFC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HCFC1 were set to Methylmalonic aciduria and homocysteinemia, cblX type, MIM# 309541
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HBB	Zornitza Stark gene: HBB was added gene: HBB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBB were set to Beta-thalassemia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HBA2	Zornitza Stark gene: HBA2 was added gene: HBA2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBA2 were set to Thalassemia, alpha, MIM#604131
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HBA1	Zornitza Stark gene: HBA1 was added gene: HBA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBA1 were set to Thalassaemia alpha, MIM#604131
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HAX1	Zornitza Stark gene: HAX1 was added gene: HAX1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HARS2	Zornitza Stark gene: HARS2 was added gene: HARS2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HARS2 were set to Perrault syndrome; autosomal recessive sensorineural hearing loss
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HADHB	Zornitza Stark gene: HADHB was added gene: HADHB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Mitochondrial trifunctional protein deficiency, MIM#609015
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HADHA	Zornitza Stark gene: HADHA was added gene: HADHA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency, MIM#609015; LCHAD deficiency, MIM# 609016
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	HADH	Zornitza Stark gene: HADH was added gene: HADH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADH were set to Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GYS2	Zornitza Stark gene: GYS2 was added gene: GYS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GYS2 were set to Glycogen storage disease 0
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GUSB	Zornitza Stark gene: GUSB was added gene: GUSB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, MIM#253220
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GSS	Zornitza Stark gene: GSS was added gene: GSS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GSS were set to Glutathione synthetase deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GRXCR1	Zornitza Stark gene: GRXCR1 was added gene: GRXCR1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: GRXCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRXCR1 were set to 26445815; 20137778; 20137774; 26226137; 25802247; 26969326 Phenotypes for gene: GRXCR1 were set to Deafness, autosomal recessive 25, MIM# 613285
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GRHPR	Zornitza Stark gene: GRHPR was added gene: GRHPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GRHL2	Zornitza Stark gene: GRHL2 was added gene: GRHL2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GRHL2 were set to Autosomal dominant hearing loss, MIM# 608641
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GPSM2	Zornitza Stark gene: GPSM2 was added gene: GPSM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GPR143	Zornitza Stark gene: GPR143 was added gene: GPR143 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPR143 were set to Ocular albinism, type I
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GPC3	Zornitza Stark gene: GPC3 was added gene: GPC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GOT2	Zornitza Stark gene: GOT2 was added gene: GOT2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GOT2 were set to Developmental and epileptic encephalopathy 82, MIM# 618721
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GNS	Zornitza Stark gene: GNS was added gene: GNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNS were set to Mucopolysaccharidosis IIId
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GNPTG	Zornitza Stark gene: GNPTG was added gene: GNPTG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GNPTAB	Zornitza Stark gene: GNPTAB was added gene: GNPTAB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTAB were set to Mucolipidosis II
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GNE	Zornitza Stark gene: GNE was added gene: GNE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNE were set to Inclusion body myopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GNAS	Zornitza Stark gene: GNAS was added gene: GNAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNAS was set to Unknown Phenotypes for gene: GNAS were set to Pseudopseudohypoparathyroidism; Pseudohypoparathyroidism
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GLUD1	Zornitza Stark gene: GLUD1 was added gene: GLUD1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLUD1 were set to Hyperinsulinism, MIM#606762
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GLRB	Zornitza Stark gene: GLRB was added gene: GLRB was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLRB were set to Hyperekplexia 2, MIM# 614619
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GLRA1	Zornitza Stark gene: GLRA1 was added gene: GLRA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, autosomal dominant or recessive, MIM#149400
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GLIS3	Zornitza Stark gene: GLIS3 was added gene: GLIS3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GLI3	Zornitza Stark gene: GLI3 was added gene: GLI3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GLDC	Zornitza Stark gene: GLDC was added gene: GLDC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLDC were set to Glycine encephalopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GLB1	Zornitza Stark gene: GLB1 was added gene: GLB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to Gangliosidosis GM1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GLA	Zornitza Stark gene: GLA was added gene: GLA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GLA were set to Fabry disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GJC2	Zornitza Stark gene: GJC2 was added gene: GJC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GJC2 were set to Pelizaeus-Merzbacher-like disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GJB2	Zornitza Stark gene: GJB2 was added gene: GJB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJB2 were set to Deafness and palmoplantar keratoderma; Deafness
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GJB1	Zornitza Stark gene: GJB1 was added gene: GJB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GJA1	Zornitza Stark gene: GJA1 was added gene: GJA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GIPC3	Zornitza Stark gene: GIPC3 was added gene: GIPC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GIPC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GIPC3 were set to Hearing loss
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GIF	Zornitza Stark Source Expert list was added to GIF. Added phenotypes Intrinsic factor deficiency # 261000 for gene: GIF
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GGCX	Zornitza Stark gene: GGCX was added gene: GGCX was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GFPT1	Zornitza Stark gene: GFPT1 was added gene: GFPT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFPT1 were set to Congenital myasthenic syndrome, limb-girdle, MIM#610542
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GFM1	Zornitza Stark gene: GFM1 was added gene: GFM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GFAP	Zornitza Stark gene: GFAP was added gene: GFAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GFAP were set to Alexander disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GDAP1	Zornitza Stark gene: GDAP1 was added gene: GDAP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GCK	Zornitza Stark gene: GCK was added gene: GCK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GCK were set to Hyperinsulinemic hypoglycemia, familial, MIM#602485
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GCH1	Zornitza Stark gene: GCH1 was added gene: GCH1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GCDH	Zornitza Stark gene: GCDH was added gene: GCDH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCDH were set to Glutaric aciduria, type I, MIM#231670
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GBA	Zornitza Stark gene: GBA was added gene: GBA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA were set to Gaucher disease 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GATA4	Zornitza Stark gene: GATA4 was added gene: GATA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA4 were set to Congenital heart defects
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GATA3	Zornitza Stark gene: GATA3 was added gene: GATA3 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GATA2	Zornitza Stark gene: GATA2 was added gene: GATA2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA2 were set to PMID: 25397911, 30047422 Phenotypes for gene: GATA2 were set to Immunodeficiency 21 MIM# 614172; Emberger syndrome MIM# 614038
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GATA1	Zornitza Stark gene: GATA1 was added gene: GATA1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GATA1 were set to Blackfan-Diamond anaemia, ORPHA:124; Anaemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835; Congenital erythropoietic porphyria, ORPHA:79277; Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GAN	Zornitza Stark gene: GAN was added gene: GAN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAN were set to Giant axonal neuropathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GAMT	Zornitza Stark gene: GAMT was added gene: GAMT was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, MIM# 612736
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GALT	Zornitza Stark gene: GALT was added gene: GALT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALT were set to Galactosaemia, MIM#230400
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GALNS	Zornitza Stark gene: GALNS was added gene: GALNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GALK1	Zornitza Stark gene: GALK1 was added gene: GALK1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts, MIM#230200
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GALE	Zornitza Stark gene: GALE was added gene: GALE was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALE were set to Galactose epimerase deficiency , MIM#230350
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GALC	Zornitza Stark gene: GALC was added gene: GALC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALC were set to Krabbe disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GAA	Zornitza Stark gene: GAA was added gene: GAA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAA were set to Glycogen storage disease II, MIM#232300
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	G6PD	Zornitza Stark gene: G6PD was added gene: G6PD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: G6PD were set to Glucose-6-phosphate dehydrogenase deficiency, MIM#300908
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	G6PC3	Zornitza Stark gene: G6PC3 was added gene: G6PC3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC3 were set to Neutropaenia, congenital, MIM#612541
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	G6PC	Zornitza Stark gene: G6PC was added gene: G6PC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, MIM#232200
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FXN	Zornitza Stark gene: FXN was added gene: FXN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FXN were set to Friedreich ataxia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FUCA1	Zornitza Stark gene: FUCA1 was added gene: FUCA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FUCA1 were set to Fucosidosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FTL	Zornitza Stark gene: FTL was added gene: FTL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FTL were set to Neuroferritinopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FRAS1	Zornitza Stark gene: FRAS1 was added gene: FRAS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FRAS1 were set to Fraser syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FOXP3	Zornitza Stark gene: FOXP3 was added gene: FOXP3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FOXP3 were set to IPEX syndrome, MIM#304790
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FOXN1	Zornitza Stark gene: FOXN1 was added gene: FOXN1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FOXN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy , MIM#601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM# 618806
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FOXI1	Zornitza Stark gene: FOXI1 was added gene: FOXI1 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXI1 were set to sensorineural deafness and distal renal tubular acidosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FOXF1	Zornitza Stark gene: FOXF1 was added gene: FOXF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FOXC2	Zornitza Stark gene: FOXC2 was added gene: FOXC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXC2 were set to Lymphoedema, primary
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FOXC1	Zornitza Stark gene: FOXC1 was added gene: FOXC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXC1 were set to Axenfeld-Rieger syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FOXA2	Zornitza Stark gene: FOXA2 was added gene: FOXA2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FOXA2 were set to Combined pituitary hormone deficiencies, genetic forms, ORPHA:95494; Congenital isolated hyperinsulinism, ORPHA:657
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FLNA	Zornitza Stark gene: FLNA was added gene: FLNA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FLNA were set to Otopalatodigital spectrum disorder
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FLCN	Zornitza Stark gene: FLCN was added gene: FLCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FLAD1	Zornitza Stark gene: FLAD1 was added gene: FLAD1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FKTN	Zornitza Stark gene: FKTN was added gene: FKTN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKTN were set to Muscular dystrophy, Fukuyama; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FKRP	Zornitza Stark gene: FKRP was added gene: FKRP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKRP were set to Muscle-eye-brain disease; Muscular dystrophy, limb girdle 2I
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FH	Zornitza Stark gene: FH was added gene: FH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to Fumurase deficiency MIM# 606812
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FGG	Zornitza Stark gene: FGG was added gene: FGG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGG were set to Afibrinogenaemia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FGFR3	Zornitza Stark gene: FGFR3 was added gene: FGFR3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR3 were set to Muenke syndrome; Thanatophoric dysplasia type 1; Crouzon syndrome with acanthosis nigricans; LADD syndrome; Hypochondroplasia; Achondroplasia; CATSHL syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FGFR2	Zornitza Stark gene: FGFR2 was added gene: FGFR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR2 were set to Jackson-Weiss syndrome; Apert syndrome; Crouzon syndrome; Pfeiffer syndrome; Beare-Stevenson cutis gyrata syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FGFR1	Zornitza Stark gene: FGFR1 was added gene: FGFR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR1 were set to Kallmann syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FGF3	Zornitza Stark gene: FGF3 was added gene: FGF3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGF3 were set to Deafness, congenital with inner ear agenesis, microtia, and microdontia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FGD4	Zornitza Stark gene: FGD4 was added gene: FGD4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FGD1	Zornitza Stark gene: FGD1 was added gene: FGD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FGD1 were set to Aarskog-Scott syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FGB	Zornitza Stark gene: FGB was added gene: FGB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGB were set to Afibrinogenaemia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FGA	Zornitza Stark gene: FGA was added gene: FGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGA were set to Afibrinogenaemia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FERMT3	Zornitza Stark gene: FERMT3 was added gene: FERMT3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, MIM# 612840
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FBP1	Zornitza Stark gene: FBP1 was added gene: FBP1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency MIM# 229700
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FBN2	Zornitza Stark gene: FBN2 was added gene: FBN2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FBN2 were set to 33571691 Phenotypes for gene: FBN2 were set to Contractural arachnodactyly, congenital MIM#121050
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FBN1	Zornitza Stark gene: FBN1 was added gene: FBN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FBN1 were set to Marfan's syndrome; Weill-Marchesani syndrome 2, dominant; Shprintzen-Goldberg syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FAS	Zornitza Stark gene: FAS was added gene: FAS was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FAS were set to Autoimmune lymphoproliferative syndrome, type IA, MIM# 601859
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FANCL	Zornitza Stark gene: FANCL was added gene: FANCL was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCL were set to Fanconi anaemia, MIM#614083
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FANCI	Zornitza Stark gene: FANCI was added gene: FANCI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCI were set to Fanconi anaemia, MIM#609053
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FANCG	Zornitza Stark gene: FANCG was added gene: FANCG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCG were set to Fanconi anaemia, MIM#614082
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FANCF	Zornitza Stark gene: FANCF was added gene: FANCF was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCF were set to Fanconi anaemia, MIM#603467
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FANCE	Zornitza Stark gene: FANCE was added gene: FANCE was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCE were set to Fanconi anaemia, MIM#600901
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FANCD2	Zornitza Stark gene: FANCD2 was added gene: FANCD2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCD2 were set to Fanconi anaemia, MIM#227646
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FANCC	Zornitza Stark gene: FANCC was added gene: FANCC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCC were set to Fanconi anaemia, MIM#227645
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FANCB	Zornitza Stark gene: FANCB was added gene: FANCB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FANCB were set to Fanconi anaemia, MIM#300514
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FANCA	Zornitza Stark gene: FANCA was added gene: FANCA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCA were set to Fanconi anaemia, MIM#227650
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FAM58A	Zornitza Stark gene: FAM58A was added gene: FAM58A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FAM58A were set to Syndactyly - telecanthus - anogenital and renal malformations
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FAM20C	Zornitza Stark gene: FAM20C was added gene: FAM20C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM20C were set to Osteosclerotic bone dysplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FAM161A	Zornitza Stark gene: FAM161A was added gene: FAM161A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM161A were set to Retinal dystrophy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FAM126A	Zornitza Stark gene: FAM126A was added gene: FAM126A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM126A were set to Hypomyelination and congenital cataract
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	FAH	Zornitza Stark gene: FAH was added gene: FAH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to Tyrosinaemia, type I, MIM#276700
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	F9	Zornitza Stark gene: F9 was added gene: F9 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: F9 were set to Haemophilia B, MIM#306900
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	F8	Zornitza Stark gene: F8 was added gene: F8 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: F8 were set to Haemophilia A, MIM#306700
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	F7	Zornitza Stark gene: F7 was added gene: F7 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F7 were set to Factor VII deficiency MIM# 227500
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	F5	Zornitza Stark gene: F5 was added gene: F5 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: F5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: F5 were set to Factor V deficiency MIM# 227400; Thrombophilia due to activated protein C resistance MIM# 188055
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	F2	Zornitza Stark gene: F2 was added gene: F2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F2 were set to Prothrombin deficiency, MIM#613679
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	F13B	Zornitza Stark gene: F13B was added gene: F13B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F13B were set to Factor XIIIB deficiency, MIM# 613235
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	F13A1	Zornitza Stark gene: F13A1 was added gene: F13A1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: F13A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F13A1 were set to Factor XIIIA deficiency, MIM# 613225
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	F11	Zornitza Stark gene: F11 was added gene: F11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: F11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F11 were set to Factor XI deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	F10	Zornitza Stark gene: F10 was added gene: F10 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: F10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F10 were set to Factor X deficiency, MIM# 227600
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EZH2	Zornitza Stark gene: EZH2 was added gene: EZH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EZH2 were set to Weaver syndrome 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EYA4	Zornitza Stark gene: EYA4 was added gene: EYA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EYA4 were set to Deafness, autosomal dominant
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EYA1	Zornitza Stark gene: EYA1 was added gene: EYA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EYA1 were set to Branchiootorenal syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EXT2	Zornitza Stark gene: EXT2 was added gene: EXT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EXT1	Zornitza Stark gene: EXT1 was added gene: EXT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EXT1 were set to Exostoses, multiple, type 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EVC2	Zornitza Stark gene: EVC2 was added gene: EVC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EVC	Zornitza Stark gene: EVC was added gene: EVC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ETHE1	Zornitza Stark gene: ETHE1 was added gene: ETHE1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, MIM#602473
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ETFDH	Zornitza Stark gene: ETFDH was added gene: ETFDH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, MIM#231680
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ETFB	Zornitza Stark gene: ETFB was added gene: ETFB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFB were set to Glutaric acidemia IIB, MIM#231680
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ETFA	Zornitza Stark gene: ETFA was added gene: ETFA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFA were set to Glutaric acidaemia IIA, MIM#231680
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ESRRB	Zornitza Stark gene: ESRRB was added gene: ESRRB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ESRRB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ESRRB were set to Hearing loss
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ESPN	Zornitza Stark gene: ESPN was added gene: ESPN was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESPN were set to 26445815; 28281779; 10975527; 18973245; 15930085; 15286153 Phenotypes for gene: ESPN were set to Deafness, autosomal recessive 36, MIM# 609006
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ESCO2	Zornitza Stark gene: ESCO2 was added gene: ESCO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ESCO2 were set to Roberts syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ERCC8	Zornitza Stark gene: ERCC8 was added gene: ERCC8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC8 were set to Cockayne syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ERCC6	Zornitza Stark gene: ERCC6 was added gene: ERCC6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to Cockayne syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ERCC5	Zornitza Stark gene: ERCC5 was added gene: ERCC5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ERCC4	Zornitza Stark gene: ERCC4 was added gene: ERCC4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC4 were set to Xeroderma pigmentosum, group F, MIM# 278760; Fanconi anaemia, complementation group Q, MIM# 615272
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ERCC2	Zornitza Stark gene: ERCC2 was added gene: ERCC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EPS8L2	Zornitza Stark gene: EPS8L2 was added gene: EPS8L2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPS8L2 were set to Deafness, MIM#617637
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EPS8	Zornitza Stark gene: EPS8 was added gene: EPS8 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: EPS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPS8 were set to deafness MIM#600205
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EPM2A	Zornitza Stark gene: EPM2A was added gene: EPM2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora)
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ENPP1	Zornitza Stark gene: ENPP1 was added gene: ENPP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ENPP1 were set to Arterial calcification, generalized, of infancy, 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ENG	Zornitza Stark gene: ENG was added gene: ENG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EMD	Zornitza Stark gene: EMD was added gene: EMD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EMD were set to Muscular dystrophy, Emery-Dreifuss
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ELP1	Zornitza Stark gene: ELP1 was added gene: ELP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ELP1 were set to Dysautonomia, familial
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ELN	Zornitza Stark gene: ELN was added gene: ELN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ELN were set to Supravalvar aortic stenosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	ELANE	Zornitza Stark gene: ELANE was added gene: ELANE was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ELANE were set to Neutropenia, congenital, MIM#202700
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EIF2AK3	Zornitza Stark gene: EIF2AK3 was added gene: EIF2AK3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, MIM#226980
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EGR2	Zornitza Stark gene: EGR2 was added gene: EGR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EGR2 were set to Charcot-Marie-Tooth disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EFTUD2	Zornitza Stark gene: EFTUD2 was added gene: EFTUD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis with microcephaly
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EFL1	Zornitza Stark gene: EFL1 was added gene: EFL1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EDNRB	Zornitza Stark gene: EDNRB was added gene: EDNRB was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EDNRB were set to Waardenburg syndrome, type 4A, MIM# 277580
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EDN3	Zornitza Stark gene: EDN3 was added gene: EDN3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: EDN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EDN3 were set to Waardenburg syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EDARADD	Zornitza Stark gene: EDARADD was added gene: EDARADD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EDARADD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, hypohidrotic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EDAR	Zornitza Stark gene: EDAR was added gene: EDAR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EDAR were set to Ectodermal dysplasia, hypohidrotic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	EDA	Zornitza Stark gene: EDA was added gene: EDA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DYSF	Zornitza Stark gene: DYSF was added gene: DYSF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYSF were set to Miyoshi muscular dystrophy 1; Muscular dystrophy, limb-girdle, type 2B
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DUOXA2	Zornitza Stark gene: DUOXA2 was added gene: DUOXA2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis 5, MIM# 274900
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DUOX2	Zornitza Stark gene: DUOX2 was added gene: DUOX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DSP	Zornitza Stark gene: DSP was added gene: DSP was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis , MIM#615821
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DPAGT1	Zornitza Stark gene: DPAGT1 was added gene: DPAGT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij, MIM#614750
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DOLK	Zornitza Stark gene: DOLK was added gene: DOLK was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 30653653; 22242004; 23890587; 17273964; 28816422; 24144945 Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im, MIM# 610768; DK1-CDG, MONDO:0012556
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DOK7	Zornitza Stark gene: DOK7 was added gene: DOK7 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOK7 were set to Congenital myasthenic syndrome, MIM# 254300
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DOCK8	Zornitza Stark gene: DOCK8 was added gene: DOCK8 was added to gNBS. Sources: Expert Review Green,BabySeq Category A gene,BegniNGS Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOCK8 were set to Hyper-IgE syndrome, MIM#243700
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DNMT3B	Zornitza Stark gene: DNMT3B was added gene: DNMT3B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DNM2	Zornitza Stark gene: DNM2 was added gene: DNM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal, type 2M; Myopathy, centronuclear
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DNAJB6	Zornitza Stark gene: DNAJB6 was added gene: DNAJB6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DNAJB6 were set to Muscular dystrophy, limb girdle
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DNAI1	Zornitza Stark gene: DNAI1 was added gene: DNAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DNAH5	Zornitza Stark gene: DNAH5 was added gene: DNAH5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH5 were set to Primary ciliary dyskinesia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DNAH11	Zornitza Stark gene: DNAH11 was added gene: DNAH11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DNAAF1	Zornitza Stark gene: DNAAF1 was added gene: DNAAF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DMXL2	Zornitza Stark gene: DMXL2 was added gene: DMXL2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DMXL2 were set to Developmental and epileptic encephalopathy 81, MIM#618663
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DMPK	Zornitza Stark gene: DMPK was added gene: DMPK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DMPK were set to Myotonic dystrophy 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DMP1	Zornitza Stark gene: DMP1 was added gene: DMP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DMP1 were set to Hypophosphatemic rickets, AR
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DMD	Zornitza Stark gene: DMD was added gene: DMD was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, MIM# 310200
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DLL3	Zornitza Stark gene: DLL3 was added gene: DLL3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis, autosomal recessive, 1
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DLD	Zornitza Stark gene: DLD was added gene: DLD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLD were set to Maple syrup urine disease, type III, MIM#246900
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DKC1	Zornitza Stark gene: DKC1 was added gene: DKC1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, MIM# 305000
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DIAPH1	Zornitza Stark gene: DIAPH1 was added gene: DIAPH1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DHCR7	Zornitza Stark gene: DHCR7 was added gene: DHCR7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DGUOK	Zornitza Stark gene: DGUOK was added gene: DGUOK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DGAT1	Zornitza Stark gene: DGAT1 was added gene: DGAT1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGAT1 were set to Diarrhea 7, protein-losing enteropathy type , MIM# 615863
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DFNB59	Zornitza Stark gene: DFNB59 was added gene: DFNB59 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DFNB59 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DFNB59 were set to Hearing loss
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DFNA5	Zornitza Stark gene: DFNA5 was added gene: DFNA5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DFNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DFNA5 were set to Hearing loss
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DDC	Zornitza Stark gene: DDC was added gene: DDC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, MIM#608643
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DDB2	Zornitza Stark gene: DDB2 was added gene: DDB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDB2 were set to Xeroderma pigmentosum
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DCX	Zornitza Stark gene: DCX was added gene: DCX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DCX were set to Lissencephaly, X-linked, MIM# 300067
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DCLRE1C	Zornitza Stark gene: DCLRE1C was added gene: DCLRE1C was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, MIM#603554
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	DBT	Zornitza Stark gene: DBT was added gene: DBT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DBT were set to Maple syrup urine disease, MIM#248600
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	D2HGDH	Zornitza Stark gene: D2HGDH was added gene: D2HGDH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CYP4F22	Zornitza Stark gene: CYP4F22 was added gene: CYP4F22 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CYP27B1	Zornitza Stark gene: CYP27B1 was added gene: CYP27B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CYP27A1	Zornitza Stark gene: CYP27A1 was added gene: CYP27A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CYP21A2	Zornitza Stark gene: CYP21A2 was added gene: CYP21A2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM#201910
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CYP17A1	Zornitza Stark gene: CYP17A1 was added gene: CYP17A1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated , MIM#202110
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CYP11B2	Zornitza Stark gene: CYP11B2 was added gene: CYP11B2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency, MIM# 203400; Hypoaldosteronism, congenital, due to CMO II deficiency, MIM# 610600
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CYP11B1	Zornitza Stark gene: CYP11B1 was added gene: CYP11B1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM#202010
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CYP11A1	Zornitza Stark gene: CYP11A1 was added gene: CYP11A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM#613743
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CYBB	Zornitza Stark gene: CYBB was added gene: CYBB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CYBB were set to Chronic granulomatous disease, MIM#306400
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CYBA	Zornitza Stark gene: CYBA was added gene: CYBA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYBA were set to Chronic granulomatous disease, MIM#233690
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CXCR4	Zornitza Stark gene: CXCR4 was added gene: CXCR4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CXCR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CXCR4 were set to WHIM syndrome 1, MIM# 193670
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CUL7	Zornitza Stark gene: CUL7 was added gene: CUL7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CUL7 were set to 3-M syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CUBN	Zornitza Stark gene: CUBN was added gene: CUBN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CUBN were set to Megaloblastic anaemia-1, Finnish type, MIM#261100
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CTSK	Zornitza Stark gene: CTSK was added gene: CTSK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSK were set to Pycnodysostosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CTSD	Zornitza Stark gene: CTSD was added gene: CTSD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CTPS1	Zornitza Stark gene: CTPS1 was added gene: CTPS1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTPS1 were set to Immunodeficiency 24, MIM# 615897
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CTNS	Zornitza Stark gene: CTNS was added gene: CTNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTNS were set to Cystinosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CTC1	Zornitza Stark gene: CTC1 was added gene: CTC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTC1 were set to Coats plus syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CSTB	Zornitza Stark gene: CSTB was added gene: CSTB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CSF3R	Zornitza Stark gene: CSF3R was added gene: CSF3R was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CSF3R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CSF3R were set to Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014; Neutrophilia, hereditary , MIM# 162830
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CSF2RA	Zornitza Stark gene: CSF2RA was added gene: CSF2RA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CSF2RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF2RA were set to 25425184; 18955570; 20622029 Phenotypes for gene: CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CRTAP	Zornitza Stark gene: CRTAP was added gene: CRTAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CRLF1	Zornitza Stark gene: CRLF1 was added gene: CRLF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRLF1 were set to Crisponi syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CREBBP	Zornitza Stark gene: CREBBP was added gene: CREBBP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CPT2	Zornitza Stark gene: CPT2 was added gene: CPT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT2 were set to Carnitine palmitoyltransferase 2 deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CPT1A	Zornitza Stark gene: CPT1A was added gene: CPT1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I deficiency, MIM#255120
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CPS1	Zornitza Stark gene: CPS1 was added gene: CPS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency, MIM#237300
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CPOX	Zornitza Stark gene: CPOX was added gene: CPOX was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CPOX were set to Coproporphyria , MIM#121300
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COQ9	Zornitza Stark gene: COQ9 was added gene: COQ9 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5 , MIM#614654
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COQ8B	Zornitza Stark gene: COQ8B was added gene: COQ8B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, MIM# 615573
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COQ8A	Zornitza Stark gene: COQ8A was added gene: COQ8A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, MIM# 612016
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COQ7	Zornitza Stark gene: COQ7 was added gene: COQ7 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8, MIM# 616733
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COQ6	Zornitza Stark gene: COQ6 was added gene: COQ6 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, MIM# 614650
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COQ4	Zornitza Stark gene: COQ4 was added gene: COQ4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, MIM# 616276
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COQ2	Zornitza Stark gene: COQ2 was added gene: COQ2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, MIM# 607426
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COLQ	Zornitza Stark gene: COLQ was added gene: COLQ was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COLQ were set to Congenital myasthenic syndrome, MIM#603034
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL9A3	Zornitza Stark gene: COL9A3 was added gene: COL9A3 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: COL9A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL9A3 were set to Stickler syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL9A2	Zornitza Stark gene: COL9A2 was added gene: COL9A2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL9A2 were set to Stickler syndrome, type V, MIM# 614284
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL9A1	Zornitza Stark gene: COL9A1 was added gene: COL9A1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV, MIM#614134
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL7A1	Zornitza Stark gene: COL7A1 was added gene: COL7A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL7A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL6A3	Zornitza Stark gene: COL6A3 was added gene: COL6A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL6A2	Zornitza Stark gene: COL6A2 was added gene: COL6A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL6A1	Zornitza Stark gene: COL6A1 was added gene: COL6A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL5A2	Zornitza Stark gene: COL5A2 was added gene: COL5A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL5A1	Zornitza Stark gene: COL5A1 was added gene: COL5A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, type I
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL4A5	Zornitza Stark gene: COL4A5 was added gene: COL4A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: COL4A5 were set to Alport syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL4A4	Zornitza Stark gene: COL4A4 was added gene: COL4A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL4A4 were set to Alport syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL4A3	Zornitza Stark gene: COL4A3 was added gene: COL4A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL4A3 were set to Alport syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL3A1	Zornitza Stark gene: COL3A1 was added gene: COL3A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL2A1	Zornitza Stark gene: COL2A1 was added gene: COL2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL2A1 were set to Stickler syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL1A2	Zornitza Stark gene: COL1A2 was added gene: COL1A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL1A2 were set to Osteogenesis imperfecta, type II
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL1A1	Zornitza Stark gene: COL1A1 was added gene: COL1A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL1A1 were set to Osteogenesis imperfecta, type I
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL17A1	Zornitza Stark gene: COL17A1 was added gene: COL17A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL13A1	Zornitza Stark gene: COL13A1 was added gene: COL13A1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, MIM# 616720
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL11A2	Zornitza Stark gene: COL11A2 was added gene: COL11A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL11A2 were set to Otospondylomegaepiphyseal dysplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COL11A1	Zornitza Stark gene: COL11A1 was added gene: COL11A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL11A1 were set to Stickler syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COG5	Zornitza Stark gene: COG5 was added gene: COG5 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG5 were set to 32174980; 23228021; 31572517 Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	COCH	Zornitza Stark gene: COCH was added gene: COCH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COCH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COCH were set to 21046548; 26256111; 9806553; 16151338; 28099493; 22931125; 18312449; 28116169; 28733840; 17561763; 18697796; 32562050; 29449721; 32939038; 22610276 Phenotypes for gene: COCH were set to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CNGB3	Zornitza Stark gene: CNGB3 was added gene: CNGB3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNGB3 were set to Achromatopsia-3
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CLRN1	Zornitza Stark gene: CLRN1 was added gene: CLRN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLRN1 were set to Usher syndrome, type 3A
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CLPP	Zornitza Stark gene: CLPP was added gene: CLPP was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPP were set to 25254289; 27087618; 27899912; 23541340 Phenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CLN8	Zornitza Stark gene: CLN8 was added gene: CLN8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CLN6	Zornitza Stark gene: CLN6 was added gene: CLN6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CLN5	Zornitza Stark gene: CLN5 was added gene: CLN5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CLN3	Zornitza Stark gene: CLN3 was added gene: CLN3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CLDN19	Zornitza Stark gene: CLDN19 was added gene: CLDN19 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CLDN14	Zornitza Stark gene: CLDN14 was added gene: CLDN14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLDN14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN14 were set to Hearing loss, non-syndromic, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CLCN7	Zornitza Stark gene: CLCN7 was added gene: CLCN7 was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, MIM# 611490
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CLCN5	Zornitza Stark gene: CLCN5 was added gene: CLCN5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CLCN5 were set to Dent disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CIB2	Zornitza Stark gene: CIB2 was added gene: CIB2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIB2 were set to 27344577; 26473954; 26445815; 23023331; 26173970; 26226137 Phenotypes for gene: CIB2 were set to Deafness, autosomal recessive 48, MIM# 609439
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CHRNG	Zornitza Stark gene: CHRNG was added gene: CHRNG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNG were set to Pterygium syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CHRNE	Zornitza Stark gene: CHRNE was added gene: CHRNE was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNE were set to Congenital myasthenic syndrome, MIM#605809
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CHRND	Zornitza Stark gene: CHRND was added gene: CHRND was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRND were set to Congenital myasthenic syndrome, MIM#616321
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CHRNB1	Zornitza Stark gene: CHRNB1 was added gene: CHRNB1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# 616314
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CHRNA1	Zornitza Stark gene: CHRNA1 was added gene: CHRNA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNA1 were set to Congenital myasthenic syndrome, MIM#601462
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CHM	Zornitza Stark gene: CHM was added gene: CHM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CHM were set to Choroideremia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CHKB	Zornitza Stark gene: CHKB was added gene: CHKB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CHD7	Zornitza Stark gene: CHD7 was added gene: CHD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHD7 were set to CHARGE syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CHD2	Zornitza Stark gene: CHD2 was added gene: CHD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHD2 were set to Developmental delay, intellectual disability, epilepsy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CHAT	Zornitza Stark gene: CHAT was added gene: CHAT was added to gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHAT were set to Congenital myasthenic syndrome, MIM#254210
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CFTR	Zornitza Stark gene: CFTR was added gene: CFTR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFTR were set to Cystic fibrosis, MIM#219700
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CFP	Zornitza Stark gene: CFP was added gene: CFP was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CFP were set to Properdin deficiency, X-linked, MIM#312060
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CFD	Zornitza Stark gene: CFD was added gene: CFD was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFD were set to Complement factor D deficiency, MIM# 613912
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CFB	Zornitza Stark gene: CFB was added gene: CFB was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CFB were set to Haemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CFL2	Zornitza Stark gene: CFL2 was added gene: CFL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFL2 were set to Nemaline myopathy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CFC1	Zornitza Stark gene: CFC1 was added gene: CFC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CFC1 were set to Congenital heart defects
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CEP83	Zornitza Stark gene: CEP83 was added gene: CEP83 was added to gNBS. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 33938610; 24882706 Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; ID; MONDO:0014374; Retinal dystrophy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CEP78	Zornitza Stark gene: CEP78 was added gene: CEP78 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CEP290	Zornitza Stark gene: CEP290 was added gene: CEP290 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to Joubert syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CEP152	Zornitza Stark gene: CEP152 was added gene: CEP152 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP152 were set to Seckel syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CDT1	Zornitza Stark gene: CDT1 was added gene: CDT1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDT1 were set to 22333897; 21358632; 21358631; 33338304 Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CDSN	Zornitza Stark gene: CDSN was added gene: CDSN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDSN were set to Hypotrichosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CDKN1C	Zornitza Stark gene: CDKN1C was added gene: CDKN1C was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, MIM#130650
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CDKL5	Zornitza Stark gene: CDKL5 was added gene: CDKL5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CDKL5 were set to Epileptic encephalopathy, early infantile, 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CDK5RAP2	Zornitza Stark gene: CDK5RAP2 was added gene: CDK5RAP2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CDH23	Zornitza Stark gene: CDH23 was added gene: CDH23 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDH23 were set to Deafness, autosomal recessive; Usher syndrome, type 1D
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CDC14A	Zornitza Stark gene: CDC14A was added gene: CDC14A was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CDAN1	Zornitza Stark gene: CDAN1 was added gene: CDAN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type I
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CD79B	Zornitza Stark gene: CD79B was added gene: CD79B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CD79B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD79B were set to Agammaglobulinaemia 6, MIM# 612692
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CD79A	Zornitza Stark gene: CD79A was added gene: CD79A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CD79A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD79A were set to Agammaglobulinaemia 3, MIM# 613501
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CD40LG	Zornitza Stark gene: CD40LG was added gene: CD40LG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CD3E	Zornitza Stark gene: CD3E was added gene: CD3E was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CD3E was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD3E were set to Immunodeficiency 18, MIM# 615615
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CD3D	Zornitza Stark gene: CD3D was added gene: CD3D was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD3D were set to Immunodeficiency 19, MIM# 615617
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CCDC40	Zornitza Stark gene: CCDC40 was added gene: CCDC40 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC40 were set to Primary ciliary dyskinesia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CCDC39	Zornitza Stark gene: CCDC39 was added gene: CCDC39 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC39 were set to Primary ciliary dyskinesia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CC2D2A	Zornitza Stark gene: CC2D2A was added gene: CC2D2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CC2D2A were set to Joubert syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CBS	Zornitza Stark gene: CBS was added gene: CBS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	GIF	Zornitza Stark gene: GIF was added gene: GIF was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GIF were set to Intrinsic factor deficiency, MIM# 261000
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CBL	Zornitza Stark gene: CBL was added gene: CBL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CAVIN1	Zornitza Stark gene: CAVIN1 was added gene: CAVIN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CAV3	Zornitza Stark gene: CAV3 was added gene: CAV3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CAV3 were set to Caveolinopathy; Muscular dystrophy, limb-girdle, type IC
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CASR	Zornitza Stark gene: CASR was added gene: CASR was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, MIM# 239200
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CASQ2	Zornitza Stark gene: CASQ2 was added gene: CASQ2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CASK	Zornitza Stark gene: CASK was added gene: CASK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CASK were set to Mental retardation and microcephaly with pontine and cerebellar hypoplasia
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CARD11	Zornitza Stark gene: CARD11 was added gene: CARD11 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CARD11 were set to 23374270; 28628108; 23561803; 12818158 Phenotypes for gene: CARD11 were set to Immunodeficiency 11A, MIM# 615206
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CAPN3	Zornitza Stark gene: CAPN3 was added gene: CAPN3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CACNA1F	Zornitza Stark gene: CACNA1F was added gene: CACNA1F was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CACNA1F were set to Night blindness, congenital stationary (complete), 1A, X-linked
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CACNA1D	Zornitza Stark gene: CACNA1D was added gene: CACNA1D was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1D were set to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CACNA1C	Zornitza Stark gene: CACNA1C was added gene: CACNA1C was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1C were set to Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CACNA1A	Zornitza Stark gene: CACNA1A was added gene: CACNA1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CABP2	Zornitza Stark gene: CABP2 was added gene: CABP2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CABP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CABP2 were set to Deafness, autosomal recessive 93, MIM# 614899
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CA2	Zornitza Stark gene: CA2 was added gene: CA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	CA5A	Zornitza Stark gene: CA5A was added gene: CA5A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA5A were set to Hyperammonaemia due to carbonic anhydrase VA deficiency, MIM# 615751
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	C9	Zornitza Stark gene: C9 was added gene: C9 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C9 were set to C9 deficiency, MIM# 613825
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	C8B	Zornitza Stark gene: C8B was added gene: C8B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C8B were set to C8 deficiency, type II, MIM# 613789
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	C8A	Zornitza Stark gene: C8A was added gene: C8A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C8A were set to C8 deficiency, type I, MIM# 613790
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	C7	Zornitza Stark gene: C7 was added gene: C7 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C7 were set to C7 deficiency, MIM# 610102
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	C6	Zornitza Stark gene: C6 was added gene: C6 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C6 were set to C6 deficiency, MIM# 612446
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	C5	Zornitza Stark gene: C5 was added gene: C5 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C5 were set to C5 deficiency, MIM# 609536
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	C3	Zornitza Stark gene: C3 was added gene: C3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C3 were set to C3 deficiency, MIM# 613779
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BTK	Zornitza Stark gene: BTK was added gene: BTK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BTK were set to Agammaglobulinemia, X-linked 1, MIM#300755
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BTD	Zornitza Stark gene: BTD was added gene: BTD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BTD were set to Biotinidase deficiency, MIM#253260
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BSND	Zornitza Stark gene: BSND was added gene: BSND was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BSND were set to Bartter syndrome with sensorineural deafness
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BSCL2	Zornitza Stark gene: BSCL2 was added gene: BSCL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BSCL2 were set to Lipodystrophy, congenital generalized, type 2, MIM# 269700; Berardinelli-Seip lipodystrophy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BRIP1	Zornitza Stark gene: BRIP1 was added gene: BRIP1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRIP1 were set to Fanconi anaemia, complementation group J, MIM# 609054
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BRCA2	Zornitza Stark gene: BRCA2 was added gene: BRCA2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRCA2 were set to Fanconi anaemia, complementation group D, MIM#1 605724
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BRAF	Zornitza Stark gene: BRAF was added gene: BRAF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome, MIM# 115150; Noonan syndrome 7, MIM# 613706
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BMPR1A	Zornitza Stark gene: BMPR1A was added gene: BMPR1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BMPR1A were set to Polyposis, juvenile intestinal, MIM# 174900
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BLNK	Zornitza Stark gene: BLNK was added gene: BLNK was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: BLNK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLNK were set to Agammaglobulinaemia 4, MIM#613502
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BLM	Zornitza Stark gene: BLM was added gene: BLM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLM were set to Bloom syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BIN1	Zornitza Stark gene: BIN1 was added gene: BIN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BICD2	Zornitza Stark gene: BICD2 was added gene: BICD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BICD2 were set to Congenital spinal muscular atrophy
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BCS1L	Zornitza Stark gene: BCS1L was added gene: BCS1L was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCS1L were set to Complex 3 deficiency
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BCKDK	Zornitza Stark gene: BCKDK was added gene: BCKDK was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDK were set to Branched-chain keto acid dehydrogenase kinase deficiency, MIM# 614923
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BCKDHB	Zornitza Stark gene: BCKDHB was added gene: BCKDHB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDHB were set to Maple syrup urine disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BCKDHA	Zornitza Stark gene: BCKDHA was added gene: BCKDHA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDHA were set to Maple syrup urine disease
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BCHE	Zornitza Stark gene: BCHE was added gene: BCHE was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: BCHE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCHE were set to Butyrylcholinesterase deficiency, MIM# 617936
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BBS9	Zornitza Stark gene: BBS9 was added gene: BBS9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BBS7	Zornitza Stark gene: BBS7 was added gene: BBS7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BBS5	Zornitza Stark gene: BBS5 was added gene: BBS5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome
19 Sep 2022	Genomic newborn screening: BabyScreen+ v0.0	BBS4	Zornitza Stark gene: BBS4 was added gene: BBS4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome

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