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| BabyScreen+ newborn screening v0.2176 | COL4A6 | Zornitza Stark Classified gene: COL4A6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2176 | COL4A6 | Zornitza Stark Gene: col4a6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.2147 | COL4A6 | Zornitza Stark Marked gene: COL4A6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2147 | COL4A6 | Zornitza Stark Added comment: Comment when marking as ready: Agree, report in males only. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2147 | COL4A6 | Zornitza Stark Gene: col4a6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2147 | COL4A6 | Zornitza Stark Classified gene: COL4A6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2147 | COL4A6 | Zornitza Stark Gene: col4a6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2141 | COL4A6 |
Lilian Downie gene: COL4A6 was added gene: COL4A6 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: COL4A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: COL4A6 were set to PMID: 33840813, PMID: 23714752 Phenotypes for gene: COL4A6 were set to Deafness, X-linked 6 MIM#300914 Review for gene: COL4A6 was set to GREEN Added comment: Pre-lingual or congenital deafness in males consider not reporting in females (may have adult onset hearing impairment) Sources: Expert list |
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