Activity

Filter

Cancel
Date Panel Item Activity
208 actions
Severe Paediatric Disorders v1.174 SLC6A20 Sarah Leigh Tag refuted tag was added to gene: SLC6A20.
Severe Paediatric Disorders v1.174 SLC6A20 Sarah Leigh Classified gene: SLC6A20 as Red List (low evidence)
Severe Paediatric Disorders v1.174 SLC6A20 Sarah Leigh Gene: slc6a20 has been classified as Red List (Low Evidence).
Severe Paediatric Disorders v1.173 SLC6A20 Sarah Leigh reviewed gene: SLC6A20: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe Paediatric Disorders v1.159 SLC6A19 Tracy Lester reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: 32644502; Phenotypes: pellagra, cerebellar ataxia, psychosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Severe Paediatric Disorders v1.123 PRODH Sarah Leigh Added comment: Comment on list classification: Evidence for the association of PRODH variants with Hyperprolinemia, type I, OMIM; 239500 has been classified as Definitive by ClinGen Aminoacidopathy Gene Curation Expert Panel on 04/27/2021 (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f28c677-a9b4-4bb3-9aed-14af97ad9896-2021-04-27T160000.000Z).
Severe Paediatric Disorders v1.62 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
Severe Paediatric Disorders v1.62 LRRC6 Catherine Snow commented on gene: LRRC6
Severe Paediatric Disorders v0.17 LRRC6 Louise Daugherty Mode of inheritance for gene LRRC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GPC6 Louise Daugherty Mode of inheritance for gene GPC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ERCC6L2 Louise Daugherty Mode of inheritance for gene ERCC6L2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ERCC6 Louise Daugherty Mode of inheritance for gene ERCC6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CCDC65 Louise Daugherty Mode of inheritance for gene CCDC65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C6 Louise Daugherty Mode of inheritance for gene C6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABCC6 Louise Daugherty Mode of inheritance for gene ABCC6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 CDC6 Louise Daugherty reviewed gene: CDC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TRPC6 Louise Daugherty reviewed gene: TRPC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TMC6 Louise Daugherty reviewed gene: TMC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 THOC6 Louise Daugherty reviewed gene: THOC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SLC6A9 Louise Daugherty reviewed gene: SLC6A9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SLC6A8 Louise Daugherty reviewed gene: SLC6A8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SLC6A5 Louise Daugherty reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SLC6A3 Louise Daugherty reviewed gene: SLC6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SLC6A20 Louise Daugherty reviewed gene: SLC6A20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SLC6A19 Louise Daugherty reviewed gene: SLC6A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SLC6A17 Louise Daugherty reviewed gene: SLC6A17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SLC6A1 Louise Daugherty reviewed gene: SLC6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ORC6 Louise Daugherty reviewed gene: ORC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LRRC6 Louise Daugherty reviewed gene: LRRC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GPC6 Louise Daugherty reviewed gene: GPC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ERCC6L2 Louise Daugherty reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ERCC6 Louise Daugherty reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CCDC65 Louise Daugherty reviewed gene: CCDC65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C6 Louise Daugherty reviewed gene: C6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCC6 Louise Daugherty reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 CDC6 Louise Daugherty Publications for gene CDC6 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRPC6 Louise Daugherty Publications for gene TRPC6 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMC6 Louise Daugherty Publications for gene TMC6 were updated from to 30847515
Severe Paediatric Disorders v0.11 THOC6 Louise Daugherty Publications for gene THOC6 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC6A9 Louise Daugherty Publications for gene SLC6A9 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC6A8 Louise Daugherty Publications for gene SLC6A8 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC6A5 Louise Daugherty Publications for gene SLC6A5 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC6A3 Louise Daugherty Publications for gene SLC6A3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC6A20 Louise Daugherty Publications for gene SLC6A20 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC6A19 Louise Daugherty Publications for gene SLC6A19 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC6A17 Louise Daugherty Publications for gene SLC6A17 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC6A1 Louise Daugherty Publications for gene SLC6A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 ORC6 Louise Daugherty Publications for gene ORC6 were updated from to 30847515
Severe Paediatric Disorders v0.11 LRRC6 Louise Daugherty Publications for gene LRRC6 were updated from to 30847515
Severe Paediatric Disorders v0.11 GPC6 Louise Daugherty Publications for gene GPC6 were updated from to 30847515
Severe Paediatric Disorders v0.11 ERCC6L2 Louise Daugherty Publications for gene ERCC6L2 were updated from to 30847515
Severe Paediatric Disorders v0.11 ERCC6 Louise Daugherty Publications for gene ERCC6 were updated from to 30847515
Severe Paediatric Disorders v0.11 CCDC65 Louise Daugherty Publications for gene CCDC65 were updated from to 30847515
Severe Paediatric Disorders v0.11 C6 Louise Daugherty Publications for gene C6 were updated from to 30847515
Severe Paediatric Disorders v0.11 ABCC6 Louise Daugherty Publications for gene ABCC6 were updated from to 30847515
Severe Paediatric Disorders v0.11 ORC6 Louise Daugherty Mode of inheritance for gene ORC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 CDC6 Louise Daugherty Added phenotypes ?Meier-Gorlin syndrome 5, 613805 for gene: CDC6
Severe Paediatric Disorders v0.10 TRPC6 Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 2, 603965 for gene: TRPC6
Severe Paediatric Disorders v0.10 TMC6 Louise Daugherty Added phenotypes Epidermodysplasia verruciformis, 226400 for gene: TMC6
Severe Paediatric Disorders v0.10 THOC6 Louise Daugherty Added phenotypes Beaulieu-Boycott-Innes syndrome, 613680 for gene: THOC6
Severe Paediatric Disorders v0.10 SLC6A9 Louise Daugherty Added phenotypes Glycine encephalopathy with normal serum glycine, 617301 for gene: SLC6A9
Severe Paediatric Disorders v0.10 SLC6A8 Louise Daugherty Added phenotypes Cerebral creatine deficiency syndrome 1, 300352 for gene: SLC6A8
Severe Paediatric Disorders v0.10 SLC6A5 Louise Daugherty Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5
Severe Paediatric Disorders v0.10 SLC6A3 Louise Daugherty Added phenotypes Parkinsonism-dystonia, infantile, 1, 613135 for gene: SLC6A3
Severe Paediatric Disorders v0.10 SLC6A20 Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500 for gene: SLC6A20
Severe Paediatric Disorders v0.10 SLC6A19 Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19
Severe Paediatric Disorders v0.10 SLC6A17 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 48, 616269 for gene: SLC6A17
Severe Paediatric Disorders v0.10 SLC6A1 Louise Daugherty Added phenotypes Myoclonic-atonic epilepsy, 616421 for gene: SLC6A1
Severe Paediatric Disorders v0.10 ORC6 Louise Daugherty Added phenotypes Meier-Gorlin syndrome 3, 613803 for gene: ORC6
Severe Paediatric Disorders v0.10 LRRC6 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 19, 614935 for gene: LRRC6
Severe Paediatric Disorders v0.10 GPC6 Louise Daugherty Added phenotypes Omodysplasia 1, 258315 for gene: GPC6
Severe Paediatric Disorders v0.10 ERCC6L2 Louise Daugherty Added phenotypes Bone marrow failure syndrome 2, 615715 for gene: ERCC6L2
Severe Paediatric Disorders v0.10 ERCC6 Louise Daugherty Added phenotypes Cerebrooculofacioskeletal syndrome 1, 214150; UV-sensitive syndrome 1, 600630; De Sanctis-Cacchione syndrome, 278800; Cockayne syndrome, type B, 133540; Premature ovarian failure 11, 616946 for gene: ERCC6
Severe Paediatric Disorders v0.10 CCDC65 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 27, 615504 for gene: CCDC65
Severe Paediatric Disorders v0.10 C6 Louise Daugherty Added phenotypes Combined C6/C7 deficiency; C6 deficiency, 612446 for gene: C6
Severe Paediatric Disorders v0.10 ABCC6 Louise Daugherty Added phenotypes Arterial calcification, generalized, of infancy, 2, 614473; Pseudoxanthoma elasticum, 264800; Pseudoxanthoma elasticum, forme fruste, 177850 for gene: ABCC6
Severe Paediatric Disorders v0.9 CDC6 Louise Daugherty Added phenotypes ?Meier-Gorlin syndrome 5, 613805 for gene: CDC6
Severe Paediatric Disorders v0.9 TRPC6 Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 2, 603965 for gene: TRPC6
Severe Paediatric Disorders v0.9 TMC6 Louise Daugherty Added phenotypes Epidermodysplasia verruciformis, 226400 for gene: TMC6
Severe Paediatric Disorders v0.9 THOC6 Louise Daugherty Added phenotypes Beaulieu-Boycott-Innes syndrome, 613680 for gene: THOC6
Severe Paediatric Disorders v0.9 SLC6A9 Louise Daugherty Added phenotypes Glycine encephalopathy with normal serum glycine, 617301 for gene: SLC6A9
Severe Paediatric Disorders v0.9 SLC6A8 Louise Daugherty Added phenotypes Cerebral creatine deficiency syndrome 1, 300352 for gene: SLC6A8
Severe Paediatric Disorders v0.9 SLC6A5 Louise Daugherty Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5
Severe Paediatric Disorders v0.9 SLC6A3 Louise Daugherty Added phenotypes Parkinsonism-dystonia, infantile, 1, 613135 for gene: SLC6A3
Severe Paediatric Disorders v0.9 SLC6A20 Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500 for gene: SLC6A20
Severe Paediatric Disorders v0.9 SLC6A19 Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19
Severe Paediatric Disorders v0.9 SLC6A17 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 48, 616269 for gene: SLC6A17
Severe Paediatric Disorders v0.9 SLC6A1 Louise Daugherty Added phenotypes Myoclonic-atonic epilepsy, 616421 for gene: SLC6A1
Severe Paediatric Disorders v0.9 ORC6 Louise Daugherty Added phenotypes Meier-Gorlin syndrome 3, 613803 for gene: ORC6
Severe Paediatric Disorders v0.9 LRRC6 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 19, 614935 for gene: LRRC6
Severe Paediatric Disorders v0.9 GPC6 Louise Daugherty Added phenotypes Omodysplasia 1, 258315 for gene: GPC6
Severe Paediatric Disorders v0.9 ERCC6L2 Louise Daugherty Added phenotypes Bone marrow failure syndrome 2, 615715 for gene: ERCC6L2
Severe Paediatric Disorders v0.9 ERCC6 Louise Daugherty Added phenotypes Cerebrooculofacioskeletal syndrome 1, 214150; UV-sensitive syndrome 1, 600630; De Sanctis-Cacchione syndrome, 278800; Cockayne syndrome, type B, 133540; Premature ovarian failure 11, 616946 for gene: ERCC6
Severe Paediatric Disorders v0.9 CCDC65 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 27, 615504 for gene: CCDC65
Severe Paediatric Disorders v0.9 C6 Louise Daugherty Added phenotypes Combined C6/C7 deficiency; C6 deficiency, 612446 for gene: C6
Severe Paediatric Disorders v0.9 ABCC6 Louise Daugherty Added phenotypes Arterial calcification, generalized, of infancy, 2, 614473; Pseudoxanthoma elasticum, 264800; Pseudoxanthoma elasticum, forme fruste, 177850 for gene: ABCC6
Severe Paediatric Disorders v0.9 CDC6 Louise Daugherty Added phenotypes ?Meier-Gorlin syndrome 5, 613805 for gene: CDC6
Severe Paediatric Disorders v0.9 TRPC6 Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 2, 603965 for gene: TRPC6
Severe Paediatric Disorders v0.9 TMC6 Louise Daugherty Added phenotypes Epidermodysplasia verruciformis, 226400 for gene: TMC6
Severe Paediatric Disorders v0.9 THOC6 Louise Daugherty Added phenotypes Beaulieu-Boycott-Innes syndrome, 613680 for gene: THOC6
Severe Paediatric Disorders v0.9 SLC6A9 Louise Daugherty Added phenotypes Glycine encephalopathy with normal serum glycine, 617301 for gene: SLC6A9
Severe Paediatric Disorders v0.9 SLC6A8 Louise Daugherty Added phenotypes Cerebral creatine deficiency syndrome 1, 300352 for gene: SLC6A8
Severe Paediatric Disorders v0.9 SLC6A5 Louise Daugherty Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5
Severe Paediatric Disorders v0.9 SLC6A3 Louise Daugherty Added phenotypes Parkinsonism-dystonia, infantile, 1, 613135 for gene: SLC6A3
Severe Paediatric Disorders v0.9 SLC6A20 Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500 for gene: SLC6A20
Severe Paediatric Disorders v0.9 SLC6A19 Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19
Severe Paediatric Disorders v0.9 SLC6A17 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 48, 616269 for gene: SLC6A17
Severe Paediatric Disorders v0.9 SLC6A1 Louise Daugherty Added phenotypes Myoclonic-atonic epilepsy, 616421 for gene: SLC6A1
Severe Paediatric Disorders v0.9 ORC6 Louise Daugherty Added phenotypes Meier-Gorlin syndrome 3, 613803 for gene: ORC6
Severe Paediatric Disorders v0.9 LRRC6 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 19, 614935 for gene: LRRC6
Severe Paediatric Disorders v0.9 GPC6 Louise Daugherty Added phenotypes Omodysplasia 1, 258315 for gene: GPC6
Severe Paediatric Disorders v0.9 ERCC6L2 Louise Daugherty Added phenotypes Bone marrow failure syndrome 2, 615715 for gene: ERCC6L2
Severe Paediatric Disorders v0.9 ERCC6 Louise Daugherty Added phenotypes Cerebrooculofacioskeletal syndrome 1, 214150; UV-sensitive syndrome 1, 600630; De Sanctis-Cacchione syndrome, 278800; Cockayne syndrome, type B, 133540; Premature ovarian failure 11, 616946 for gene: ERCC6
Severe Paediatric Disorders v0.9 CCDC65 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 27, 615504 for gene: CCDC65
Severe Paediatric Disorders v0.9 C6 Louise Daugherty Added phenotypes Combined C6/C7 deficiency; C6 deficiency, 612446 for gene: C6
Severe Paediatric Disorders v0.9 ABCC6 Louise Daugherty Added phenotypes Arterial calcification, generalized, of infancy, 2, 614473; Pseudoxanthoma elasticum, 264800; Pseudoxanthoma elasticum, forme fruste, 177850 for gene: ABCC6
Severe Paediatric Disorders v0.8 CDC6 Louise Daugherty Added phenotypes ?Meier-Gorlin syndrome 5, 613805 for gene: CDC6
Severe Paediatric Disorders v0.8 TRPC6 Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 2, 603965 for gene: TRPC6
Severe Paediatric Disorders v0.8 TMC6 Louise Daugherty Added phenotypes Epidermodysplasia verruciformis, 226400 for gene: TMC6
Severe Paediatric Disorders v0.8 THOC6 Louise Daugherty Added phenotypes Beaulieu-Boycott-Innes syndrome, 613680 for gene: THOC6
Severe Paediatric Disorders v0.8 SLC6A9 Louise Daugherty Added phenotypes Glycine encephalopathy with normal serum glycine, 617301 for gene: SLC6A9
Severe Paediatric Disorders v0.8 SLC6A8 Louise Daugherty Added phenotypes Cerebral creatine deficiency syndrome 1, 300352 for gene: SLC6A8
Severe Paediatric Disorders v0.8 SLC6A5 Louise Daugherty Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5
Severe Paediatric Disorders v0.8 SLC6A3 Louise Daugherty Added phenotypes Parkinsonism-dystonia, infantile, 1, 613135 for gene: SLC6A3
Severe Paediatric Disorders v0.8 SLC6A20 Louise Daugherty Added phenotypes Hyperglycinuria, 138500; Iminoglycinuria, digenic, 242600 for gene: SLC6A20
Severe Paediatric Disorders v0.8 SLC6A19 Louise Daugherty Added phenotypes Hyperglycinuria, 138500; Iminoglycinuria, digenic, 242600; Hartnup disorder, 234500 for gene: SLC6A19
Severe Paediatric Disorders v0.8 SLC6A17 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 48, 616269 for gene: SLC6A17
Severe Paediatric Disorders v0.8 SLC6A1 Louise Daugherty Added phenotypes Myoclonic-atonic epilepsy, 616421 for gene: SLC6A1
Severe Paediatric Disorders v0.8 ORC6 Louise Daugherty Added phenotypes Meier-Gorlin syndrome 3, 613803 for gene: ORC6
Severe Paediatric Disorders v0.8 LRRC6 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 19, 614935 for gene: LRRC6
Severe Paediatric Disorders v0.8 GPC6 Louise Daugherty Added phenotypes Omodysplasia 1, 258315 for gene: GPC6
Severe Paediatric Disorders v0.8 ERCC6L2 Louise Daugherty Added phenotypes Bone marrow failure syndrome 2, 615715 for gene: ERCC6L2
Severe Paediatric Disorders v0.8 ERCC6 Louise Daugherty Added phenotypes UV-sensitive syndrome 1, 600630; Cerebrooculofacioskeletal syndrome 1, 214150; Cockayne syndrome, type B, 133540; De Sanctis-Cacchione syndrome, 278800; Premature ovarian failure 11, 616946 for gene: ERCC6
Severe Paediatric Disorders v0.8 CCDC65 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 27, 615504 for gene: CCDC65
Severe Paediatric Disorders v0.8 C6 Louise Daugherty Added phenotypes Combined C6/C7 deficiency; C6 deficiency, 612446 for gene: C6
Severe Paediatric Disorders v0.8 ABCC6 Louise Daugherty Added phenotypes Pseudoxanthoma elasticum, forme fruste, 177850; Arterial calcification, generalized, of infancy, 2, 614473; Pseudoxanthoma elasticum, 264800 for gene: ABCC6
Severe Paediatric Disorders v0.8 CDC6 Louise Daugherty Mode of inheritance for gene CDC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Meier-Gorlin syndrome 5, 613805 for gene: CDC6
Severe Paediatric Disorders v0.8 TRPC6 Louise Daugherty Mode of inheritance for gene TRPC6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Glomerulosclerosis, focal segmental, 2, 603965 for gene: TRPC6
Severe Paediatric Disorders v0.8 TMC6 Louise Daugherty Mode of inheritance for gene TMC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Epidermodysplasia verruciformis, 226400 for gene: TMC6
Severe Paediatric Disorders v0.8 THOC6 Louise Daugherty Mode of inheritance for gene THOC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Beaulieu-Boycott-Innes syndrome, 613680 for gene: THOC6
Severe Paediatric Disorders v0.8 SLC6A9 Louise Daugherty Mode of inheritance for gene SLC6A9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycine encephalopathy with normal serum glycine, 617301 for gene: SLC6A9
Severe Paediatric Disorders v0.8 SLC6A8 Louise Daugherty Mode of inheritance for gene SLC6A8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Cerebral creatine deficiency syndrome 1, 300352 for gene: SLC6A8
Severe Paediatric Disorders v0.8 SLC6A5 Louise Daugherty Mode of inheritance for gene SLC6A5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5
Severe Paediatric Disorders v0.8 SLC6A3 Louise Daugherty Mode of inheritance for gene SLC6A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Parkinsonism-dystonia, infantile, 1, 613135 for gene: SLC6A3
Severe Paediatric Disorders v0.8 SLC6A20 Louise Daugherty Mode of inheritance for gene SLC6A20 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500 for gene: SLC6A20
Severe Paediatric Disorders v0.8 SLC6A19 Louise Daugherty Mode of inheritance for gene SLC6A19 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19
Severe Paediatric Disorders v0.8 SLC6A17 Louise Daugherty Mode of inheritance for gene SLC6A17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mental retardation, autosomal recessive 48, 616269 for gene: SLC6A17
Severe Paediatric Disorders v0.8 SLC6A1 Louise Daugherty Mode of inheritance for gene SLC6A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Myoclonic-atonic epilepsy, 616421 for gene: SLC6A1
Severe Paediatric Disorders v0.7 CDC6 Louise Daugherty Source Next Generation Children Project was added to CDC6.
Severe Paediatric Disorders v0.7 TRPC6 Louise Daugherty Source Next Generation Children Project was added to TRPC6.
Severe Paediatric Disorders v0.7 TMC6 Louise Daugherty Source Next Generation Children Project was added to TMC6.
Severe Paediatric Disorders v0.7 THOC6 Louise Daugherty Source Next Generation Children Project was added to THOC6.
Severe Paediatric Disorders v0.7 SLC6A9 Louise Daugherty Source Next Generation Children Project was added to SLC6A9.
Severe Paediatric Disorders v0.7 SLC6A8 Louise Daugherty Source Next Generation Children Project was added to SLC6A8.
Severe Paediatric Disorders v0.7 SLC6A5 Louise Daugherty Source Next Generation Children Project was added to SLC6A5.
Severe Paediatric Disorders v0.7 SLC6A3 Louise Daugherty Source Next Generation Children Project was added to SLC6A3.
Severe Paediatric Disorders v0.7 SLC6A20 Louise Daugherty Source Next Generation Children Project was added to SLC6A20.
Severe Paediatric Disorders v0.7 SLC6A19 Louise Daugherty Source Next Generation Children Project was added to SLC6A19.
Severe Paediatric Disorders v0.7 SLC6A17 Louise Daugherty Source Next Generation Children Project was added to SLC6A17.
Severe Paediatric Disorders v0.7 SLC6A1 Louise Daugherty Source Next Generation Children Project was added to SLC6A1.
Severe Paediatric Disorders v0.7 ORC6 Louise Daugherty Source Next Generation Children Project was added to ORC6.
Severe Paediatric Disorders v0.7 LRRC6 Louise Daugherty Source Next Generation Children Project was added to LRRC6.
Severe Paediatric Disorders v0.7 GPC6 Louise Daugherty Source Next Generation Children Project was added to GPC6.
Severe Paediatric Disorders v0.7 ERCC6L2 Louise Daugherty Source Next Generation Children Project was added to ERCC6L2.
Severe Paediatric Disorders v0.7 ERCC6 Louise Daugherty Source Next Generation Children Project was added to ERCC6.
Severe Paediatric Disorders v0.7 CCDC65 Louise Daugherty Source Next Generation Children Project was added to CCDC65.
Severe Paediatric Disorders v0.7 C6 Louise Daugherty Source Next Generation Children Project was added to C6.
Severe Paediatric Disorders v0.7 ABCC6 Louise Daugherty Source Next Generation Children Project was added to ABCC6.
Severe Paediatric Disorders v0.5 CDC6 Louise Daugherty Source Expert Review Amber was added to CDC6.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe Paediatric Disorders v0.5 TRPC6 Louise Daugherty Source Expert Review Green was added to TRPC6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TMC6 Louise Daugherty Source Expert Review Green was added to TMC6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 THOC6 Louise Daugherty Source Expert Review Green was added to THOC6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SLC6A9 Louise Daugherty Source Expert Review Green was added to SLC6A9.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SLC6A8 Louise Daugherty Source Expert Review Green was added to SLC6A8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SLC6A5 Louise Daugherty Source Expert Review Green was added to SLC6A5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SLC6A3 Louise Daugherty Source Expert Review Green was added to SLC6A3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SLC6A20 Louise Daugherty Source Expert Review Green was added to SLC6A20.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SLC6A19 Louise Daugherty Source Expert Review Green was added to SLC6A19.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SLC6A17 Louise Daugherty Source Expert Review Green was added to SLC6A17.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SLC6A1 Louise Daugherty Source Expert Review Green was added to SLC6A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ORC6 Louise Daugherty Source Expert Review Green was added to ORC6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 LRRC6 Louise Daugherty Source Expert Review Green was added to LRRC6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 GPC6 Louise Daugherty Source Expert Review Green was added to GPC6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ERCC6L2 Louise Daugherty Source Expert Review Green was added to ERCC6L2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ERCC6 Louise Daugherty Source Expert Review Green was added to ERCC6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CCDC65 Louise Daugherty Source Expert Review Green was added to CCDC65.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 C6 Louise Daugherty Source Expert Review Green was added to C6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ABCC6 Louise Daugherty Source Expert Review Green was added to ABCC6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 CDC6 Louise Daugherty gene: CDC6 was added
gene: CDC6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CDC6 was set to
Severe Paediatric Disorders v0.4 TRPC6 Louise Daugherty gene: TRPC6 was added
gene: TRPC6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TRPC6 was set to
Severe Paediatric Disorders v0.4 TMC6 Louise Daugherty gene: TMC6 was added
gene: TMC6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TMC6 was set to
Severe Paediatric Disorders v0.4 THOC6 Louise Daugherty gene: THOC6 was added
gene: THOC6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: THOC6 was set to
Severe Paediatric Disorders v0.4 SLC6A9 Louise Daugherty gene: SLC6A9 was added
gene: SLC6A9 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A9 was set to
Severe Paediatric Disorders v0.4 SLC6A8 Louise Daugherty gene: SLC6A8 was added
gene: SLC6A8 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A8 was set to
Severe Paediatric Disorders v0.4 SLC6A5 Louise Daugherty gene: SLC6A5 was added
gene: SLC6A5 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A5 was set to
Severe Paediatric Disorders v0.4 SLC6A3 Louise Daugherty gene: SLC6A3 was added
gene: SLC6A3 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A3 was set to
Severe Paediatric Disorders v0.4 SLC6A20 Louise Daugherty gene: SLC6A20 was added
gene: SLC6A20 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A20 was set to
Severe Paediatric Disorders v0.4 SLC6A19 Louise Daugherty gene: SLC6A19 was added
gene: SLC6A19 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A19 was set to
Severe Paediatric Disorders v0.4 SLC6A17 Louise Daugherty gene: SLC6A17 was added
gene: SLC6A17 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A17 was set to
Severe Paediatric Disorders v0.4 SLC6A1 Louise Daugherty gene: SLC6A1 was added
gene: SLC6A1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A1 was set to
Severe Paediatric Disorders v0.4 ORC6 Louise Daugherty gene: ORC6 was added
gene: ORC6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ORC6 was set to
Severe Paediatric Disorders v0.4 LRRC6 Louise Daugherty gene: LRRC6 was added
gene: LRRC6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: LRRC6 was set to
Severe Paediatric Disorders v0.4 GPC6 Louise Daugherty gene: GPC6 was added
gene: GPC6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GPC6 was set to
Severe Paediatric Disorders v0.4 ERCC6L2 Louise Daugherty gene: ERCC6L2 was added
gene: ERCC6L2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ERCC6L2 was set to
Severe Paediatric Disorders v0.4 ERCC6 Louise Daugherty gene: ERCC6 was added
gene: ERCC6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ERCC6 was set to
Severe Paediatric Disorders v0.4 CCDC65 Louise Daugherty gene: CCDC65 was added
gene: CCDC65 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CCDC65 was set to
Severe Paediatric Disorders v0.4 C6 Louise Daugherty gene: C6 was added
gene: C6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: C6 was set to
Severe Paediatric Disorders v0.4 ABCC6 Louise Daugherty gene: ABCC6 was added
gene: ABCC6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ABCC6 was set to