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Neurological segmental overgrowth v2.13 Ivone Leong Panel version 2.12 has been signed off on 2024-05-01
Neurological segmental overgrowth v2.12 MAX Achchuthan Shanmugasundram Classified gene: MAX as Amber List (moderate evidence)
Neurological segmental overgrowth v2.12 MAX Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by James Poulter, there is sufficient evidence available (three unrelated cases with the same p.Arg60Gln variant and functional studies) for the promotion of this gene to green rating in the next GMS update.
Neurological segmental overgrowth v2.12 MAX Achchuthan Shanmugasundram Gene: max has been classified as Amber List (Moderate Evidence).
Neurological segmental overgrowth v2.11 MAX Achchuthan Shanmugasundram changed review comment from: PMID:38141607 reported three individuals with the same recurrent de novo germline variant in the MAX gene (p.Arg60Gln). Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae.

Functional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc.; to: PMID:38141607 reported three individuals with the same recurrent de novo germline variant in the MAX gene (p.Arg60Gln). Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae.

Functional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc.

This gene has been associated with relevant phenotypes in OMIM (MIM #620712).
Neurological segmental overgrowth v2.11 MAX Achchuthan Shanmugasundram Phenotypes for gene: MAX were changed from Macrocephaly; Polydactyly; delayed ophthalmic development; autism to Polydactyly-macrocephaly syndrome, OMIM:620712
Neurological segmental overgrowth v2.10 MAX Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: MAX.
Tag Q2_24_NHS_review tag was added to gene: MAX.
Neurological segmental overgrowth v2.10 MAX Achchuthan Shanmugasundram changed review comment from: Three individuals who each share a recurrent de novo germline variant in the MAX gene, resulting in a p.Arg60Gln substitution in the loop of the b-HLH-LZ domain.

Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae.

Functional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc.; to: PMID:38141607 reported three individuals with the same recurrent de novo germline variant in the MAX gene (p.Arg60Gln). Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae.

Functional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc.
Neurological segmental overgrowth v2.10 MAX Achchuthan Shanmugasundram Publications for gene: MAX were set to PMID:38141607
Neurological segmental overgrowth v2.9 MAX Achchuthan Shanmugasundram commented on gene: MAX: Three individuals who each share a recurrent de novo germline variant in the MAX gene, resulting in a p.Arg60Gln substitution in the loop of the b-HLH-LZ domain.

Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae.

Functional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc.
Neurological segmental overgrowth v2.9 MAX Achchuthan Shanmugasundram reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 38141607; Phenotypes: Polydactyly-macrocephaly syndrome, OMIM:620712; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurological segmental overgrowth v2.9 MAX James Poulter gene: MAX was added
gene: MAX was added to Neurological segmental overgrowth. Sources: Literature
Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAX were set to PMID:38141607
Phenotypes for gene: MAX were set to Macrocephaly; Polydactyly; delayed ophthalmic development; autism
Penetrance for gene: MAX were set to Complete
Review for gene: MAX was set to GREEN
Added comment: Recurrent de novo variant (p.Arg60Gln) identified in 3 unrelated individuals. Pathogenicity supported by functional analysis.
Sources: Literature
Neurological segmental overgrowth v2.7 AKT3 Arina Puzriakova Tag mosaicism tag was added to gene: AKT3.
Neurological segmental overgrowth v2.7 Eleanor Williams Panel version 2.6 has been signed off on 2023-03-22
Neurological segmental overgrowth v2.5 Catherine Snow Panel signed off version 2.2 has been removed
Neurological segmental overgrowth v2.3 Catherine Snow Panel version 2.2 has been signed off on 2023-02-13
Neurological segmental overgrowth v2.2 TBC1D7 Arina Puzriakova Phenotypes for gene: TBC1D7 were changed from MGCPH; Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 to Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000
Neurological segmental overgrowth v2.1 Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30
Neurological segmental overgrowth v2.0 Achchuthan Shanmugasundram promoted panel to version 2.0
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