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Segmental overgrowth disorders - Deep sequencing v3.17 | PIK3R2 | Arina Puzriakova Phenotypes for gene: PIK3R2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387; MPPH1; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387; Macrocephaly and Overgrowth Syndromes; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 1 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.13 | AKT3 | Arina Puzriakova Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; MPPH2; Macrocephaly and Overgrowth Syndromes; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937; Macrocephaly and Overgrowth Syndromes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.12 | AKT2 | Arina Puzriakova Classified gene: AKT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.12 | AKT2 | Arina Puzriakova Added comment: Comment on list classification: At least three unrelated families reported with the same activating mosaic c.49G>A (p.E17K) variant in the AKT2 gene. Mild asymmetric overgrowth was seen in 2/3 cases. Sibs from the third family showed early overgrowth but no signs of body asymmetry. Overall the evidence is borderline amber/green. However, as this gene has been expert reviewed as green by Tom Cullup (GOSH) and is likely to be diagnostically relevant, recommending AKT2 is promoted to green status at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.12 | AKT2 | Arina Puzriakova Gene: akt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.11 | AKT2 | Arina Puzriakova Publications for gene: AKT2 were set to 28502730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.10 | AKT2 | Arina Puzriakova Mode of pathogenicity for gene: AKT2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.9 | AKT2 |
Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: AKT2. Tag Q3_23_NHS_review tag was added to gene: AKT2. Tag recurrent-variant tag was added to gene: AKT2. |
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Segmental overgrowth disorders - Deep sequencing v3.9 | PIK3R1 |
Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: PIK3R1. Tag Q3_23_NHS_review tag was added to gene: PIK3R1. |
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Segmental overgrowth disorders - Deep sequencing v3.9 | PIK3R1 | Arina Puzriakova Publications for gene: PIK3R1 were set to PMID: 34040190; 35964931 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.8 | PIK3R1 | Arina Puzriakova Classified gene: PIK3R1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.8 | PIK3R1 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. At least 17 cases have been identified with somatic mosaic variants in PIK3R1 (PMIDs: 34040190; 35964931). Affected individuals exhibit various vascular lesions and overgrowth which were comparable to features of the PIK3CA-related overgrowth spectrum. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.8 | PIK3R1 | Arina Puzriakova Gene: pik3r1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.7 | GJA4 |
Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. A recurrent GJA4 c.121G>T (p.Gly41Cys) somatic variant has been found in >50 individuals with cavernous venous malformation. The same somatic variant has been found in at least three unrelated cases with cutaneous lesions which plausibly could be referred via this panel. Functional studies have shown this is a GoF variant that leads to formation of a hyperactive hemichannel.; to: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. A recurrent GJA4 c.121G>T (p.Gly41Cys) somatic variant has been found in >50 individuals with cavernous venous malformation. Functional studies have shown this is a GoF variant that leads to formation of a hyperactive hemichannel. |
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Segmental overgrowth disorders - Deep sequencing v3.7 | GJA4 | Arina Puzriakova Tag Q3_23_NHS_review was removed from gene: GJA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.7 | GJA4 | Arina Puzriakova Entity copied from Mosaic skin disorders - deep sequencing v2.14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.7 | GJA4 |
Arina Puzriakova gene: GJA4 was added gene: GJA4 was added to Segmental overgrowth disorders - Deep sequencing. Sources: Expert Review Amber,Expert list Q3_23_promote_green, Q3_23_NHS_review, recurrent-variant tags were added to gene: GJA4. Mode of inheritance for gene: GJA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJA4 were set to 33912852; 35642047; 35902510; 36209871; 37072338 Phenotypes for gene: GJA4 were set to Cutaneous and hepatic vascular lesions (no OMIM phenotype) Penetrance for gene: GJA4 were set to unknown Mode of pathogenicity for gene: GJA4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Segmental overgrowth disorders - Deep sequencing v3.6 | ARAF |
Arina Puzriakova Tag treatable was removed from gene: ARAF. Tag Q3_23_NHS_review tag was added to gene: ARAF. |
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Segmental overgrowth disorders - Deep sequencing v3.6 | ARAF | Arina Puzriakova Tag treatable tag was added to gene: ARAF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.6 | ARAF |
Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Tom Cullup (GOSH). ARAF is not currently associated with any phenotype in OMIM or G2P. Although only two patients have been reported with the same missense variant, functional studies including an animal model provide strong support of pathogenicity (outlined below). Evidence of this variant specific gene-disease relationship is sufficiently compelling but the phenotype is more within scope of the R110 Segmental overgrowth disorders – Deep sequencing panel. Therefore rating as amber on this panel and green on R110. - PMID: 31263281 (2019): To date, only two unrelated patients have been reported with the same missense GoF variant in ARAF (c.640T>C:p.S214P) who both had a complex lymphatic anomaly (no haplotype analysis was done). Cells transduced with ARAF-S214P showed elevated ERK1/2 activity, enhanced lymphangiogenic capacity, and disassembly of actin skeleton and VE-cadherin junctions. A zebrafish model recapitulated the lymphatic phenotype. The cellular, zebrafish and patient clinical phenotypes were all rescued with with a MEK inhibitor.; to: Comment on list classification: New gene added by Tom Cullup (GOSH). ARAF is not currently associated with any phenotype in OMIM or G2P. Although only two patients have been reported with the same missense variant, functional studies including an animal model provide strong support of pathogenicity (outlined below). Evidence of this variant specific gene-disease relationship is sufficiently compelling to rate this gene as green at the next GMS panel update. - PMID: 31263281 (2019): To date, only two unrelated patients have been reported with the same missense GoF variant in ARAF (c.640T>C:p.S214P) who both had a complex lymphatic anomaly (no haplotype analysis was done). Cells transduced with ARAF-S214P showed elevated ERK1/2 activity, enhanced lymphangiogenic capacity, and disassembly of actin skeleton and VE-cadherin junctions. A zebrafish model recapitulated the lymphatic phenotype. The cellular, zebrafish and patient clinical phenotypes were all rescued with with a MEK inhibitor. |
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Segmental overgrowth disorders - Deep sequencing v3.6 | ARAF | Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: ARAF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.6 | ARAF | Arina Puzriakova Entity copied from Mosaic skin disorders - deep sequencing v2.2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.6 | ARAF |
Arina Puzriakova gene: ARAF was added gene: ARAF was added to Segmental overgrowth disorders - Deep sequencing. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: ARAF was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ARAF were set to 31263281 Phenotypes for gene: ARAF were set to central conducting lymphatic anomaly Penetrance for gene: ARAF were set to unknown Mode of pathogenicity for gene: ARAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Segmental overgrowth disorders - Deep sequencing v3.5 | PIK3R1 |
Tom Cullup gene: PIK3R1 was added gene: PIK3R1 was added to Segmental overgrowth disorders - Deep sequencing. Sources: Expert list Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3R1 were set to PMID: 34040190; 35964931 Phenotypes for gene: PIK3R1 were set to Vascular malformation and overgrowth Penetrance for gene: PIK3R1 were set to unknown Mode of pathogenicity for gene: PIK3R1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PIK3R1 was set to GREEN Added comment: Sources: Expert list |
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Segmental overgrowth disorders - Deep sequencing v3.5 | AKT2 | Tom Cullup reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 21979934, 24285683; Phenotypes: hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) (MIM 240900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.4 | Catherine Snow Panel version 3.3 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.3 |
Catherine Snow Panel name changed from Segmental overgrowth disorders to Segmental overgrowth disorders - Deep sequencing List of related panels changed from Regional overgrowth disorders; R110 to Regional overgrowth disorders; Segmental overgrowth disorders; R110 |
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Segmental overgrowth disorders - Deep sequencing v3.2 | NLRP2 |
Arina Puzriakova Tag Q3_22_rating was removed from gene: NLRP2. Tag Q3_22_expert_review was removed from gene: NLRP2. |
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Segmental overgrowth disorders - Deep sequencing v3.2 | NLRP2 | Arina Puzriakova reviewed gene: NLRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.1 | Eleanor Williams Panel version 3.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v3.0 | Eleanor Williams promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.17 | Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.16 | NLRP2 | Eleanor Williams commented on gene: NLRP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.16 | NLRP2 |
Eleanor Williams Tag Q2_21_expert_review was removed from gene: NLRP2. Tag Q3_22_rating tag was added to gene: NLRP2. Tag Q3_22_expert_review tag was added to gene: NLRP2. |
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Segmental overgrowth disorders - Deep sequencing v2.16 | PADI6 | Catherine Snow Tag for-review was removed from gene: PADI6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.16 | SUZ12 | Catherine Snow Tag for-review was removed from gene: SUZ12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.16 | SUZ12 | Catherine Snow commented on gene: SUZ12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.16 | PADI6 | Catherine Snow commented on gene: PADI6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.15 | SUZ12 |
Catherine Snow Source Expert Review Green was added to SUZ12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Segmental overgrowth disorders - Deep sequencing v2.15 | PADI6 |
Catherine Snow Source Expert Review Green was added to PADI6. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Segmental overgrowth disorders - Deep sequencing v2.14 | NLRP2 | Sarah Leigh commented on gene: NLRP2: The Q2_21_expert_review tag has been added for the TEWG to consider whether or not the epigenetic effects of maternal variants in NLRP2 have in their children is appropriate for a Green gene rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.14 | NLRP2 | Sarah Leigh Tag Q2_21_expert_review tag was added to gene: NLRP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.14 | TBC1D7 | Ivone Leong Phenotypes for gene: TBC1D7 were changed from Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000; MGCPH to Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.13 | NLRP2 | Sarah Leigh Classified gene: NLRP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.13 | NLRP2 | Sarah Leigh Gene: nlrp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.12 | NLRP2 | Sarah Leigh Added comment: Comment on mode of pathogenicity: Maternal NLRP2 variants result in epigenitic disturbance at sites in trans, eg: IC2 in imprinting region at 11p15.5 (PMID 19300480). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.12 | NLRP2 | Sarah Leigh Mode of pathogenicity for gene: NLRP2 was changed from Other to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.11 | NLRP2 |
Sarah Leigh gene: NLRP2 was added gene: NLRP2 was added to Segmental overgrowth disorders. Sources: Literature Mode of inheritance for gene: NLRP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NLRP2 were set to 26323243; 29574422; 19300480; 30877238; 33090377 Phenotypes for gene: NLRP2 were set to Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475 Mode of pathogenicity for gene: NLRP2 was set to Other Review for gene: NLRP2 was set to AMBER Added comment: Maternal bialliec variants may result in epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480) and early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features. Sources: Literature |
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Segmental overgrowth disorders - Deep sequencing v2.10 | AKT2 | Arina Puzriakova Phenotypes for gene: AKT2 were changed from Hypoinsulinemic hypoglycemia with hemihypertrophy,240900; Hypoinsulinemic hypoglycemia with hemihypertrophy; HIHGHH; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.9 | AKT1 | Eleanor Williams Publications for gene: AKT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.8 | AKT1 | Eleanor Williams reviewed gene: AKT1: Rating: ; Mode of pathogenicity: None; Publications: 33030203; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.8 | PADI6 | Sarah Leigh Tag for-review tag was added to gene: PADI6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.8 | PADI6 | Sarah Leigh edited their review of gene: PADI6: Added comment: PMID: 32928291 reports three variants associated with Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance in three cases. Five variants have also been associated with Preimplantation embryonic lethality 2, where they have been biallelic in the women affected (pmid 27545678). There is enough evidence for this gene to be reviewed at the next major review.; Changed publications: 32928291, 33221824, 27545678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.8 | PADI6 |
Sarah Leigh gene: PADI6 was added gene: PADI6 was added to Segmental overgrowth disorders. Sources: Literature Mode of inheritance for gene: PADI6 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: PADI6 were set to 32928291; 33221824 Phenotypes for gene: PADI6 were set to Preimplantation embryonic lethality 2 OMIM:617234; Beckwith-Wiedemann syndrome Review for gene: PADI6 was set to AMBER Added comment: Sources: Literature |
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Segmental overgrowth disorders - Deep sequencing v2.7 | SUZ12 | Sarah Leigh Classified gene: SUZ12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.7 | SUZ12 | Sarah Leigh Gene: suz12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.6 | SUZ12 |
Sarah Leigh gene: SUZ12 was added gene: SUZ12 was added to Segmental overgrowth disorders. Sources: Literature for-review tags were added to gene: SUZ12. Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SUZ12 were set to 28229514; 30019515; 31736240; 15385962; 19535498; 31724824 Phenotypes for gene: SUZ12 were set to Imagawa-Matsumoto syndrome 618786 Review for gene: SUZ12 was set to GREEN Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in at least 13 affected individuals from 12 families. Sources: Literature |
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Segmental overgrowth disorders - Deep sequencing v2.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v2.0 | Ivone Leong promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v1.11 |
Ivone Leong List of related panels changed from Regional overgrowth disorders to Regional overgrowth disorders; R110 Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off |
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Segmental overgrowth disorders - Deep sequencing v1.10 | AKT2 | Catherine Snow Publications for gene: AKT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v1.9 | AKT2 | Catherine Snow Classified gene: AKT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v1.9 | AKT2 | Catherine Snow Added comment: Comment on list classification: After consultation with Genomics England clinical team who identified AKT2 in the review paper PMID:28502730 – "4 cases summarised, they all have the same missense variant, and I can’t see if any work has been done re mechanism e.g. gain of function". Advised rating as Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v1.9 | AKT2 | Catherine Snow Gene: akt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v1.7 | Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing v1.4 |
Ellen McDonagh Panel name changed from Regional overgrowth disorders to Segmental overgrowth disorders List of related panels changed from to Regional overgrowth disorders Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual |
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Segmental overgrowth disorders - Deep sequencing | AKT3 | Ellen McDonagh commented on AKT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | CDKN1C | Louise Daugherty edited their review of CDKN1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | CDKN1C | Louise Daugherty commented on CDKN1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | Rebecca Foulger promoted panel to version 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | RASA1 | Rebecca Foulger edited their review of RASA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | TBC1D7 | Rebecca Foulger classified TBC1D7 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | RASA1 | Rebecca Foulger marked RASA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | PTEN | Rebecca Foulger marked PTEN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | PTEN | Rebecca Foulger commented on PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | PIK3R2 | Rebecca Foulger marked PIK3R2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | PIK3R2 | Rebecca Foulger commented on PIK3R2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | PIK3CA | Rebecca Foulger marked PIK3CA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | PIK3CA | Rebecca Foulger edited their review of PIK3CA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | CDKN1C | Rebecca Foulger marked CDKN1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | CDKN1C | Rebecca Foulger commented on CDKN1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | CCND2 | Rebecca Foulger marked CCND2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | AKT1 | Rebecca Foulger marked AKT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | AKT3 | Rebecca Foulger marked AKT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | PTEN | Richard Scott reviewed PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | PIK3R2 | Richard Scott reviewed PIK3R2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | CDKN1C | Richard Scott reviewed CDKN1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | AKT1 | Richard Scott reviewed AKT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | TBC1D7 | Richard Scott reviewed TBC1D7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | RASA1 | Richard Scott reviewed RASA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | PIK3CA | Richard Scott reviewed PIK3CA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | CCND2 | Richard Scott reviewed CCND2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | AKT3 | Richard Scott reviewed AKT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | MTOR | Rebecca Foulger reviewed MTOR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | CCND2 | Rebecca Foulger classified CCND2 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | CCND2 | Rebecca Foulger commented on CCND2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | PIK3CA | Rebecca Foulger classified PIK3CA as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | RASA1 | Rebecca Foulger classified RASA1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | RASA1 | Rebecca Foulger commented on RASA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | TBC1D7 | Rebecca Foulger classified TBC1D7 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | TBC1D7 | Rebecca Foulger commented on TBC1D7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | AKT3 | Rebecca Foulger classified AKT3 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | AKT3 | Rebecca Foulger commented on AKT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | PIK3CA | Rebecca Foulger reviewed PIK3CA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Segmental overgrowth disorders - Deep sequencing | AKT1 | Rebecca Foulger reviewed AKT1 |