Activity
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19 actions
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| Mackenzie's Mission_Reproductive Carrier Screening v0.56 | ABCC6 | Seb Lunke Phenotypes for gene: ABCC6 were changed from Arterial calcification, generalized, of infancy, 2, 614473 (3) to Pseudoxanthoma elasticum MIM#264800; Arterial calcification, generalized, of infancy, 2 MIM#614473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.55 | ABCC6 | Seb Lunke Classified gene: ABCC6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.55 | ABCC6 | Seb Lunke Gene: abcc6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.54 | ABCC6 |
Sarah Righetti edited their review of gene: ABCC6: Added comment: Decision to exclude gene from MM list on 01/04/21. The gene-phenotype relationship is not easy to predict, and GACI Type 2 is extremely rare - ~1 in 4 million births. The majority of couples we detect with pathogenic variants in ABBC6 will be at increased risk for PXE which does not meet severity criteria for inclusion. There are also technical issues caused by 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.; Changed rating: RED; Changed phenotypes: Pseudoxanthoma elasticum MIM#264800, Arterial calcification, generalized, of infancy, 2 MIM#614473 |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.27 | ABCC6 | Seb Lunke Marked gene: ABCC6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.27 | ABCC6 | Seb Lunke Gene: abcc6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.27 | ABCC6 | Sarah Righetti reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.17 | TRAPPC6B |
Zornitza Stark gene: TRAPPC6B was added gene: TRAPPC6B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC6B were set to 28626029; 28397838; 31687267 Phenotypes for gene: TRAPPC6B were set to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 Review for gene: TRAPPC6B was set to GREEN Added comment: Five unrelated families reported with autosomal recessive neurodegenerative disorder characterised by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC6A8 |
Zornitza Stark gene: SLC6A8 was added gene: SLC6A8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, 300352 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC6A5 |
Zornitza Stark gene: SLC6A5 was added gene: SLC6A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC6A3 |
Zornitza Stark gene: SLC6A3 was added gene: SLC6A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ORC6 |
Zornitza Stark gene: ORC6 was added gene: ORC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome 3, 613803 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | LRRC6 |
Zornitza Stark gene: LRRC6 was added gene: LRRC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRRC6 were set to Ciliary dyskinesia, primary, 19, 614935 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GPC6 |
Zornitza Stark gene: GPC6 was added gene: GPC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPC6 were set to Omodysplasia 1, 258315 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ERCC6L2 |
Zornitza Stark gene: ERCC6L2 was added gene: ERCC6L2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ERCC6 |
Zornitza Stark gene: ERCC6 was added gene: ERCC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DNAJC6 |
Zornitza Stark gene: DNAJC6 was added gene: DNAJC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC6 were set to Parkinson disease 19, juvenile-onset, 615528 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | C6 |
Zornitza Stark gene: C6 was added gene: C6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C6 were set to C6 deficiency, 612446 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ABCC6 |
Zornitza Stark gene: ABCC6 was added gene: ABCC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCC6 were set to Arterial calcification, generalized, of infancy, 2, 614473 (3) |
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