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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.
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.
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.
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
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.
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.
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
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
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
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.
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.
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)
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)
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
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
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
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
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
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