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Genomic newborn screening: BabyScreen+ v0.1658 TIMM8A Zornitza Stark Phenotypes for gene: TIMM8A were changed from Mohr-Tranebjaerg syndrome to Mohr-Tranebjaerg syndrome MIM#304700
Genomic newborn screening: BabyScreen+ v0.1530 TIMM8A Lilian Downie reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20301395; Phenotypes: Mohr-Tranebjaerg syndrome MIM#304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.423 NEB Zornitza Stark Marked gene: NEB as ready
Genomic newborn screening: BabyScreen+ v0.423 NEB Zornitza Stark Gene: neb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.423 NEB Zornitza Stark Phenotypes for gene: NEB were changed from Nemaline myopathy to Nemaline myopathy 2, autosomal recessive 256030; Arthrogryposis multiplex congenita 6, MIM# 619334
Genomic newborn screening: BabyScreen+ v0.422 NEB Zornitza Stark Classified gene: NEB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.422 NEB Zornitza Stark Gene: neb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.421 NEB Zornitza Stark reviewed gene: NEB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 2, autosomal recessive 256030, Arthrogryposis multiplex congenita 6, MIM# 619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
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
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
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