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| Mendeliome v0.14067 | GSN | Zornitza Stark Marked gene: GSN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14067 | GSN | Zornitza Stark Gene: gsn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14067 | GSN | Zornitza Stark Phenotypes for gene: GSN were changed from to Amyloidosis, Finnish type, MIM# 105120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14066 | GSN | Zornitza Stark Publications for gene: GSN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14065 | GSN | Zornitza Stark Mode of inheritance for gene: GSN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14064 | GSN |
Zornitza Stark changed review comment from: The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported. Multiple families with same founder variant.; to: The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported. Multiple families with same founder variant, p.Asp187Asn, though other variants also reported. |
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| Mendeliome v0.14064 | GSN | Zornitza Stark edited their review of gene: GSN: Changed publications: 2176164, 28139293 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14064 | GSN | Zornitza Stark reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 2176164; Phenotypes: Amyloidosis, Finnish type, MIM# 105120; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7108 | HGSNAT | Zornitza Stark Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657 Retinitis pigmentosa 73, MIM# 616544 MONDO:0014687 to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; MONDO:0009657; Retinitis pigmentosa 73, MIM# 616544; MONDO:0014687 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7107 | HGSNAT | Zornitza Stark reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 25859010; Phenotypes: Retinitis pigmentosa 73, MIM# 616544, MONDO:0014687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7107 | HGSNAT | Zornitza Stark Publications for gene: HGSNAT were set to 19479962; 31228227; 20825431; 20583299 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7106 | HGSNAT | Zornitza Stark Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis type IIIC (Sanfilippo C) (MIM #252930); Retinitis pigmentosa 73 (MIM # 616544) to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657 Retinitis pigmentosa 73, MIM# 616544 MONDO:0014687 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1398 | HGSNAT | Zornitza Stark Marked gene: HGSNAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1398 | HGSNAT | Zornitza Stark Gene: hgsnat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1398 | HGSNAT | Zornitza Stark Phenotypes for gene: HGSNAT were changed from to Mucopolysaccharidosis type IIIC (Sanfilippo C) (MIM #252930); Retinitis pigmentosa 73 (MIM # 616544) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1397 | HGSNAT | Zornitza Stark Publications for gene: HGSNAT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1396 | HGSNAT | Zornitza Stark Mode of inheritance for gene: HGSNAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1386 | HGSNAT | Ain Roesley reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19479962, 31228227, 20825431, 20583299; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C) (MIM #252930), Retinitis pigmentosa 73 (MIM # 616544); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | HGSNAT |
Zornitza Stark gene: HGSNAT was added gene: HGSNAT was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HGSNAT was set to Unknown |
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| Mendeliome v0.0 | GSN |
Zornitza Stark gene: GSN was added gene: GSN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GSN was set to Unknown |
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