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| BabyScreen+ newborn screening v0.2175 | COL4A6 |
Zornitza Stark edited their review of gene: COL4A6: Added comment: Further review of PMID:33840813; Family A: - Proband is hemi for COL4A6 and het for GJB2. Mother is het for COL4A6 - hypothesised that in the proband is more severe than the parents due to additive effects of his two variants however, mother's audiometric data was unavailable to confirm this. Family B: - Variant does not segregate within family with the proband being WT in this gene - NM_001287758.1: c.3272G>C is the mutation however, it appears to be an annotation error as it corresponds to NC_000023.11:g.108171443 in GRCh38. At that position, the c. is T not G and the amino acid residue is Val, not Gly. In addition, there is a missense affecting Gly of GXY in gnomad v3 with 38 hemis.; Changed rating: RED; Changed publications: 33840813; Changed phenotypes: Deafness, X-linked 6 MIM#300914; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| BabyScreen+ newborn screening v0.1701 | GJB2 | Zornitza Stark Marked gene: GJB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1701 | GJB2 | Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1701 | GJB2 | Zornitza Stark Phenotypes for gene: GJB2 were changed from Deafness and palmoplantar keratoderma; Deafness to Deafness, autosomal recessive 1A, MIM# 220290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1700 | GJB2 | Zornitza Stark Mode of inheritance for gene: GJB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1699 | GJB2 | Zornitza Stark Tag deafness tag was added to gene: GJB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1699 | GJB2 | Zornitza Stark reviewed gene: GJB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 1A, MIM# 220290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening 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 |
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