Activity

Filter

Cancel
Date Panel Item Activity
30 actions
Neurological segmental overgrowth v1.15 PIK3CA Arina Puzriakova Phenotypes for gene: PIK3CA were changed from CLAPO syndrome, somatic, OMIM:613089; CLOVE syndrome, somatic, OMIM:612918; Macrodactyly, somatic, OMIM:155500; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501 to Cowden syndrome 5, OMIM:615108; CLAPO syndrome, somatic, OMIM:613089; CLOVE syndrome, somatic, OMIM:612918; Macrodactyly, somatic, OMIM:155500; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Neurological segmental overgrowth v1.14 PTEN Arina Puzriakova Phenotypes for gene: PTEN were changed from hemihypertrophy; Bannayan Riley Ruvalcalba Syndrome; Bannayan-Riley-Ruvalcaba Syndrome; Proteus-like syndrome; macrocephaly; Bannayan-Riley-Ruvalcaba syndrome, 153480; BRRS; Bannayan-Riley-Ruvalcaba syndrome,153480; megalencephaly; PTEN Hamartoma Tumor Syndrome; Macrocephaly and Overgrowth Syndromes; PHTS; Cowden syndrome to Cowden syndrome 1, OMIM:158350; Lhermitte-Duclos syndrome, OMIM:158350; Macrocephaly/autism syndrome, OMIM:605309
Neurological segmental overgrowth v1.13 PIK3R2 Arina Puzriakova Phenotypes for gene: PIK3R2 were changed from MPPH1; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 1; Macrocephaly and Overgrowth Syndromes to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Neurological segmental overgrowth v1.12 PIK3CA Arina Puzriakova Phenotypes for gene: PIK3CA were changed from Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501; CLOVE syndrome; CLOVES; congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918; Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome; CLOVES syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome; macrocephaly-capillary malformation (MCM) syndrome; Megalencephaly-Capillary malformation syndrome; Macrocephaly and Overgrowth Syndromes; MCAP to CLAPO syndrome, somatic, OMIM:613089; CLOVE syndrome, somatic, OMIM:612918; Macrodactyly, somatic, OMIM:155500; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Neurological segmental overgrowth v1.11 CCND2 Arina Puzriakova Phenotypes for gene: CCND2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938; MPPH3; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938
Neurological segmental overgrowth v1.10 AKT3 Arina Puzriakova Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; Macrocephaly and Overgrowth Syndromes; MPPH2; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937; Macrocephaly and Overgrowth Syndromes
Neurological segmental overgrowth v1.9 AKT1 Arina Puzriakova Phenotypes for gene: AKT1 were changed from Proteus syndrome, 176920; Proteus syndrome, somatic,176920; Macrocephaly and Overgrowth Syndromes; Segmental Overgrowth Syndrome; Proteus syndrome to Proteus syndrome, somatic, OMIM:176920; Macrocephaly and Overgrowth Syndromes; Segmental Overgrowth Syndrome; Proteus syndrome
Neurological segmental overgrowth v1.8 AKT2 Arina Puzriakova Phenotypes for gene: AKT2 were changed from HIHGHH; Hypoinsulinemic hypoglycemia with hemihypertrophy; Hypoinsulinemic hypoglycemia with hemihypertrophy,240900; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
Neurological segmental overgrowth v1.7 AKT1 Eleanor Williams Publications for gene: AKT1 were set to
Neurological segmental overgrowth v1.6 AKT1 Eleanor Williams reviewed gene: AKT1: Rating: ; Mode of pathogenicity: None; Publications: 33030203; Phenotypes: ; Mode of inheritance: None
Neurological segmental overgrowth v1.5 Catherine Snow Panel version has been signed off
Neurological segmental overgrowth v1.4 Catherine Snow Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
Neurological segmental overgrowth v1.3 Catherine Snow Panel version has been signed off
Neurological segmental overgrowth v1.2 Catherine Snow Panel types changed to Component Of Super Panel; GMS signed-off
Neurological segmental overgrowth v1.0 Louise Daugherty promoted panel to version 1.0
Neurological segmental overgrowth v0.6 Louise Daugherty Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Neurological segmental overgrowth v0.5 Louise Daugherty Panel status changed from internal to public
Neurological segmental overgrowth v0.2 TBC1D7 Louise Daugherty gene: TBC1D7 was added
gene: TBC1D7 was added to Neurological segmental overgrowth. Sources: Expert Review Red
Mode of inheritance for gene: TBC1D7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D7 were set to MGCPH; Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000
Neurological segmental overgrowth v0.2 NRAS Louise Daugherty gene: NRAS was added
gene: NRAS was added to Neurological segmental overgrowth. Sources: Expert Review Red
Mode of inheritance for gene: NRAS was set to
Phenotypes for gene: NRAS were set to Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Hemimegalencephaly
Neurological segmental overgrowth v0.2 MTOR Louise Daugherty gene: MTOR was added
gene: MTOR was added to Neurological segmental overgrowth. Sources: Expert Review Red
Mode of inheritance for gene: MTOR was set to
Phenotypes for gene: MTOR were set to Segmental Overgrowth Syndrome; HME; Hemimegalencephaly
Neurological segmental overgrowth v0.2 KRAS Louise Daugherty gene: KRAS was added
gene: KRAS was added to Neurological segmental overgrowth. Sources: Expert Review Red
Mode of inheritance for gene: KRAS was set to
Phenotypes for gene: KRAS were set to Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Hemimegalencephaly
Neurological segmental overgrowth v0.2 HRAS Louise Daugherty gene: HRAS was added
gene: HRAS was added to Neurological segmental overgrowth. Sources: Expert Review Red
Mode of inheritance for gene: HRAS was set to
Phenotypes for gene: HRAS were set to Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Hemimegalencephaly
Neurological segmental overgrowth v0.2 AKT2 Louise Daugherty gene: AKT2 was added
gene: AKT2 was added to Neurological segmental overgrowth. Sources: Expert Review Red
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT2 were set to HIHGHH; Hypoinsulinemic hypoglycemia with hemihypertrophy; Hypoinsulinemic hypoglycemia with hemihypertrophy,240900; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
Neurological segmental overgrowth v0.2 PTEN Louise Daugherty gene: PTEN was added
gene: PTEN was added to Neurological segmental overgrowth. Sources: Expert Review Green
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTEN were set to hemihypertrophy; Bannayan Riley Ruvalcalba Syndrome; Bannayan-Riley-Ruvalcaba Syndrome; Proteus-like syndrome; macrocephaly; Bannayan-Riley-Ruvalcaba syndrome, 153480; BRRS; Bannayan-Riley-Ruvalcaba syndrome,153480; megalencephaly; PTEN Hamartoma Tumor Syndrome; Macrocephaly and Overgrowth Syndromes; PHTS; Cowden syndrome
Neurological segmental overgrowth v0.2 PIK3R2 Louise Daugherty gene: PIK3R2 was added
gene: PIK3R2 was added to Neurological segmental overgrowth. Sources: Expert Review Green
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3R2 were set to MPPH1; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 1; Macrocephaly and Overgrowth Syndromes
Neurological segmental overgrowth v0.2 PIK3CA Louise Daugherty gene: PIK3CA was added
gene: PIK3CA was added to Neurological segmental overgrowth. Sources: Expert Review Green
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3CA were set to Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501; CLOVE syndrome; CLOVES; congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918; Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome; CLOVES syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome; macrocephaly-capillary malformation (MCM) syndrome; Megalencephaly-Capillary malformation syndrome; Macrocephaly and Overgrowth Syndromes; MCAP
Neurological segmental overgrowth v0.2 CCND2 Louise Daugherty gene: CCND2 was added
gene: CCND2 was added to Neurological segmental overgrowth. Sources: Expert Review Green
Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CCND2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938; MPPH3; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3
Neurological segmental overgrowth v0.2 AKT3 Louise Daugherty gene: AKT3 was added
gene: AKT3 was added to Neurological segmental overgrowth. Sources: Expert Review Green
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; Macrocephaly and Overgrowth Syndromes; MPPH2; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2
Neurological segmental overgrowth v0.2 AKT1 Louise Daugherty gene: AKT1 was added
gene: AKT1 was added to Neurological segmental overgrowth. Sources: Expert Review Green
Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKT1 were set to Proteus syndrome, 176920; Proteus syndrome, somatic,176920; Macrocephaly and Overgrowth Syndromes; Segmental Overgrowth Syndrome; Proteus syndrome
Neurological segmental overgrowth v0.0 Louise Daugherty Added Panel Neurological segmental overgrowth
Set panel types to: GMS Rare Disease Virtual; Component Of Super Panel