| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Deafness_IsolatedAndComplex v1.158 | COL4A6 | Zornitza Stark Classified gene: COL4A6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.158 | COL4A6 | Zornitza Stark Gene: col4a6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.157 | COL4A6 | Zornitza Stark edited their review of gene: COL4A6: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.157 | 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 publications: 23714752, 33840813 |
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| Deafness_IsolatedAndComplex v1.114 | COL4A6 | Zornitza Stark Publications for gene: COL4A6 were set to 23714752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.113 | COL4A6 | Zornitza Stark Classified gene: COL4A6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.113 | COL4A6 | Zornitza Stark Gene: col4a6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.112 | COL4A6 | Lucy Spencer reviewed gene: COL4A6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33840813; Phenotypes: ?Deafness, X-linked 6, MIM#300914; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.44 | COL4A6 | Zornitza Stark Phenotypes for gene: COL4A6 were changed from Deafness, X-linked 6, MIM# 300914 to Deafness, X-linked 6, MIM# 300914 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.44 | COL4A6 | Zornitza Stark Marked gene: COL4A6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.44 | COL4A6 | Zornitza Stark Gene: col4a6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.44 | COL4A6 | Zornitza Stark Publications for gene: COL4A6 were set to 23714752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.43 | COL4A6 | Zornitza Stark Phenotypes for gene: COL4A6 were changed from to Deafness, X-linked 6, MIM# 300914 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.43 | COL4A6 | Zornitza Stark Publications for gene: COL4A6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.43 | COL4A6 | Zornitza Stark Mode of inheritance for gene: COL4A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.42 | COL4A6 | Zornitza Stark Classified gene: COL4A6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.42 | COL4A6 | Zornitza Stark Gene: col4a6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.41 | COL4A6 | Zornitza Stark reviewed gene: COL4A6: Rating: RED; Mode of pathogenicity: None; Publications: 23714752; Phenotypes: Deafness, X-linked 6, MIM# 300914; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.0 | COL4A6 |
Zornitza Stark gene: COL4A6 was added gene: COL4A6 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: COL4A6 was set to Unknown |
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