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Overgrowth v1.20 KMT5B Lucy Spencer Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51, MIM#617788 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788
Overgrowth v1.19 FIBP Zornitza Stark Publications for gene: FIBP were set to 26660953; 27183861
Overgrowth v1.18 FIBP Zornitza Stark Classified gene: FIBP as Green List (high evidence)
Overgrowth v1.18 FIBP Zornitza Stark Gene: fibp has been classified as Green List (High Evidence).
Overgrowth v1.17 FIBP Zornitza Stark edited their review of gene: FIBP: Added comment: Beyond the two families previously reviewed (PMIDs 26660953; 27183861), four additional studies (PMIDs 36919607, 37218527, 37876348, 40099975) contribute four new unrelated families (total six unrelated families, nine patients) with a consistent autosomal‑recessive overgrowth syndrome. All six families have biallelic loss‑of‑function FIBP variants (nonsense or frameshift leading to NMD). Detailed clinical descriptions include overgrowth, macrocephaly, facial dysmorphism, developmental delay/intellectual disability, renal dysplasia and, in two families, early‑onset tumor predisposition. Segregation analyses confirm recessive inheritance in every case. Functional work (RT‑qPCR, fibroblast proliferation assays, mouse embryonic expression) demonstrates reduced FIBP expression and increased cell proliferation, supporting pathogenicity.; Changed rating: GREEN; Changed publications: 40099975, 37876348, 36919607, 27183861, 26660953
Overgrowth v1.17 ISCA-37425-Loss Zornitza Stark Marked Region: ISCA-37425-Loss as ready
Overgrowth v1.17 ISCA-37425-Loss Zornitza Stark Region: isca-37425-loss has been classified as Green List (High Evidence).
Overgrowth v1.17 Sarah Milton Copied Region ISCA-37425-Loss from panel Common deletion and duplication syndromes
Overgrowth v1.17 ISCA-37425-Loss Sarah Milton Region: ISCA-37425-Loss was added
Region: ISCA-37425-Loss was added to Overgrowth. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37425-Loss.
Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37425-Loss were set to 23190751; 19596467
Phenotypes for Region: ISCA-37425-Loss were set to Sotos syndrome, chromosome 5q35 deletion; intellectual disability; overgrowth
Overgrowth v1.16 AKT2 Chirag Patel Classified gene: AKT2 as Green List (high evidence)
Overgrowth v1.16 AKT2 Chirag Patel Gene: akt2 has been classified as Green List (High Evidence).
Overgrowth v1.16 AKT2 Chirag Patel Classified gene: AKT2 as Green List (high evidence)
Overgrowth v1.16 AKT2 Chirag Patel Gene: akt2 has been classified as Green List (High Evidence).
Overgrowth v1.15 AKT2 Chirag Patel Deleted their review
Overgrowth v1.15 AKT2 Chirag Patel Classified gene: AKT2 as Red List (low evidence)
Overgrowth v1.15 AKT2 Chirag Patel Gene: akt2 has been classified as Red List (Low Evidence).
Overgrowth v1.14 AKT2 Chirag Patel reviewed gene: AKT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Overgrowth v1.14 PPP2R5D Ain Roesley Phenotypes for gene: PPP2R5D were changed from Houge-Janssens syndrome 1, MIM#616355 to Houge-Janssens syndrome 1, MIM#616355
Overgrowth v1.13 PPP2R5D Ain Roesley Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35, MIM# 616355 to Houge-Janssens syndrome 1, MIM#616355
Overgrowth v1.12 PTEN Ain Roesley Phenotypes for gene: PTEN were changed from Cowden syndrome 1, MIM# 158350; Macrocephaly/autism syndrome, MIM# 605309 to Cowden syndrome 1, MIM# 158350; Macrocephaly/autism syndrome, MIM# 605309; PTEN hamartoma tumor syndrome MONDO:0017623
Overgrowth v1.11 SPIN4 Zornitza Stark Marked gene: SPIN4 as ready
Overgrowth v1.11 SPIN4 Zornitza Stark Gene: spin4 has been classified as Amber List (Moderate Evidence).
Overgrowth v1.11 SPIN4 Zornitza Stark Mode of inheritance for gene: SPIN4 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Overgrowth v1.10 SPIN4 Zornitza Stark Marked gene: SPIN4 as ready
Overgrowth v1.10 SPIN4 Zornitza Stark Gene: spin4 has been classified as Amber List (Moderate Evidence).
Overgrowth v1.10 SPIN4 Zornitza Stark Classified gene: SPIN4 as Amber List (moderate evidence)
Overgrowth v1.10 SPIN4 Zornitza Stark Gene: spin4 has been classified as Amber List (Moderate Evidence).
Overgrowth v1.9 SPIN4 Belinda Chong gene: SPIN4 was added
gene: SPIN4 was added to Overgrowth. Sources: Literature
Mode of inheritance for gene: SPIN4 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: SPIN4 were set to 36927955
Phenotypes for gene: SPIN4 were set to Lui-Jee-Baron syndrome MIM#301114
Review for gene: SPIN4 was set to AMBER
gene: SPIN4 was marked as current diagnostic
Added comment: PMID 36927955
* Single family, hemizygous frameshift variant (NM_001012968.3, c.312_313AGdel) identified in a male individual with generalized overgrowth of prenatal onset, variant also present in the mother and grandmother (both had adult heights 2 SDS greater than their midparental heights).
* In vitro shows loss of function and mice studies recapitulated the human phenotype with
generalized overgrowth, including increased longitudinal bone growth.
Sources: Literature
Overgrowth v1.9 MED12 Ling Sun Deleted their review
Overgrowth v1.9 MED12 Ling Sun Deleted their comment
Overgrowth v1.9 MED12 Ling Sun reviewed gene: MED12: Rating: AMBER; Mode of pathogenicity: None; Publications: 32682435, 18973276, 31255603, 28724790, 20301719; Phenotypes: Dilated cardiomyopathy (DCM), left ventricular non-compaction (LVNC), dilated cardiomyopathy (DCM), arrhythmia, ventricular septal defect (VSD); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Overgrowth v1.9 Zornitza Stark HPO terms changed from to Overgrowth, HP:0001548; Tall stature, HP:0000098; Increased body weight, HP:0004324
List of related panels changed from to Overgrowth; HP:0001548; Tall stature; HP:0000098; Increased body weight; HP:0004324
Overgrowth v1.8 CHD8 Zornitza Stark Phenotypes for gene: CHD8 were changed from {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome to {Autism, susceptibility to, 18} 615032; Neurodevelopmental disorder, MONDO:0700092, CHD8-associated
Overgrowth v1.7 CHD8 Zornitza Stark edited their review of gene: CHD8: Changed phenotypes: {Autism, susceptibility to, 18} 615032, Neurodevelopmental disorder, MONDO:0700092, CHD8-associated
Overgrowth v1.7 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from Mental retardation, X-linked 93, MIM# 300659 to Intellectual developmental disorder, X-linked 93, OMIM # 300659
Overgrowth v1.6 BRWD3 Zornitza Stark Publications for gene: BRWD3 were set to 17668385
Overgrowth v1.5 BRWD3 Zornitza Stark Mode of inheritance for gene: BRWD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Overgrowth v1.4 BRWD3 Zornitza Stark edited their review of gene: BRWD3: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Overgrowth v1.4 BRWD3 Chirag Patel Classified gene: BRWD3 as Green List (high evidence)
Overgrowth v1.4 BRWD3 Chirag Patel Gene: brwd3 has been classified as Green List (High Evidence).
Overgrowth v1.3 BRWD3 Chirag Patel reviewed gene: BRWD3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30628072, 24462886; Phenotypes: Intellectual developmental disorder, X-linked 93, OMIM # 300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Overgrowth v1.3 PPP2R5D Chirag Patel Classified gene: PPP2R5D as Green List (high evidence)
Overgrowth v1.3 PPP2R5D Chirag Patel Gene: ppp2r5d has been classified as Green List (High Evidence).
Overgrowth v1.2 PPP2R5D Chirag Patel reviewed gene: PPP2R5D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Overgrowth v1.1 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Overgrowth v1.0 Zornitza Stark promoted panel to version 1.0
Overgrowth v0.96 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Overgrowth v0.96 OFD1 Zornitza Stark Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.96 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209
Overgrowth v0.95 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Overgrowth v0.94 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Overgrowth v0.93 OFD1 Zornitza Stark Classified gene: OFD1 as Amber List (moderate evidence)
Overgrowth v0.93 OFD1 Zornitza Stark Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.92 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 16783569, 27589329; Phenotypes: Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Overgrowth v0.92 HIST1H1E Zornitza Stark Marked gene: HIST1H1E as ready
Overgrowth v0.92 HIST1H1E Zornitza Stark Gene: hist1h1e has been classified as Green List (High Evidence).
Overgrowth v0.92 HIST1H1E Zornitza Stark Phenotypes for gene: HIST1H1E were changed from to Rahman syndrome, MIM# 617537
Overgrowth v0.91 HIST1H1E Zornitza Stark Publications for gene: HIST1H1E were set to
Overgrowth v0.90 HIST1H1E Zornitza Stark Mode of inheritance for gene: HIST1H1E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.89 HIST1H1E Zornitza Stark reviewed gene: HIST1H1E: Rating: GREEN; Mode of pathogenicity: None; Publications: 28475857, 33270410, 31910894, 31400068; Phenotypes: Rahman syndrome, MIM# 617537; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.89 MTOR Zornitza Stark Publications for gene: MTOR were set to
Overgrowth v0.88 MTOR Zornitza Stark edited their review of gene: MTOR: Changed publications: 27830187
Overgrowth v0.88 MTOR Zornitza Stark Marked gene: MTOR as ready
Overgrowth v0.88 MTOR Zornitza Stark Gene: mtor has been classified as Green List (High Evidence).
Overgrowth v0.88 MTOR Zornitza Stark Phenotypes for gene: MTOR were changed from to Smith-Kingsmore syndrome, MIM# 616638
Overgrowth v0.87 MTOR Zornitza Stark Mode of inheritance for gene: MTOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.86 MTOR Zornitza Stark reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Kingsmore syndrome, MIM# 616638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.86 PTEN Zornitza Stark Marked gene: PTEN as ready
Overgrowth v0.86 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Overgrowth v0.86 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from to Cowden syndrome 1, MIM# 158350; Macrocephaly/autism syndrome, MIM# 605309
Overgrowth v0.85 PTEN Zornitza Stark Publications for gene: PTEN were set to
Overgrowth v0.84 PTEN Zornitza Stark Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.83 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31433956, 31609537; Phenotypes: Cowden syndrome 1, MIM# 158350, Macrocephaly/autism syndrome, MIM# 605309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.83 NFIX Zornitza Stark Marked gene: NFIX as ready
Overgrowth v0.83 NFIX Zornitza Stark Gene: nfix has been classified as Green List (High Evidence).
Overgrowth v0.83 NFIX Zornitza Stark Phenotypes for gene: NFIX were changed from to Sotos syndrome 2, MIM# 614753; Malan syndrome
Overgrowth v0.82 NFIX Zornitza Stark Publications for gene: NFIX were set to 33034087; 29897170; 30548146; 25118028
Overgrowth v0.81 NFIX Zornitza Stark Publications for gene: NFIX were set to 33034087; 29897170; 30548146; 25118028
Overgrowth v0.81 NFIX Zornitza Stark Publications for gene: NFIX were set to
Overgrowth v0.80 NFIX Zornitza Stark Mode of inheritance for gene: NFIX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.79 NFIX Zornitza Stark reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: 33034087, 29897170, 30548146, 25118028; Phenotypes: Sotos syndrome 2, MIM# 614753, Malan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.79 NSD1 Zornitza Stark Marked gene: NSD1 as ready
Overgrowth v0.79 NSD1 Zornitza Stark Gene: nsd1 has been classified as Green List (High Evidence).
Overgrowth v0.79 NSD1 Zornitza Stark Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1, MIM# 117550
Overgrowth v0.78 NSD1 Zornitza Stark Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.77 NSD1 Zornitza Stark Tag SV/CNV tag was added to gene: NSD1.
Overgrowth v0.77 NSD1 Zornitza Stark reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sotos syndrome 1, MIM# 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.77 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Overgrowth v0.77 GPC3 Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence).
Overgrowth v0.77 GPC3 Zornitza Stark Phenotypes for gene: GPC3 were changed from to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Overgrowth v0.76 GPC3 Zornitza Stark Mode of inheritance for gene: GPC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Overgrowth v0.75 GPC3 Zornitza Stark reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Overgrowth v0.75 EED Zornitza Stark Marked gene: EED as ready
Overgrowth v0.75 EED Zornitza Stark Gene: eed has been classified as Green List (High Evidence).
Overgrowth v0.75 EED Zornitza Stark Phenotypes for gene: EED were changed from to Cohen-Gibson syndrome, MIM# 617561
Overgrowth v0.74 EED Zornitza Stark Publications for gene: EED were set to
Overgrowth v0.73 EED Zornitza Stark Mode of inheritance for gene: EED was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.72 EED Zornitza Stark reviewed gene: EED: Rating: GREEN; Mode of pathogenicity: None; Publications: 25787343, 27193220, 27868325, 28229514; Phenotypes: Cohen-Gibson syndrome, MIM# 617561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.72 CHD8 Zornitza Stark Marked gene: CHD8 as ready
Overgrowth v0.72 CHD8 Zornitza Stark Gene: chd8 has been classified as Green List (High Evidence).
Overgrowth v0.72 CHD8 Zornitza Stark Phenotypes for gene: CHD8 were changed from to {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome
Overgrowth v0.71 CHD8 Zornitza Stark Publications for gene: CHD8 were set to
Overgrowth v0.70 CHD8 Zornitza Stark Mode of inheritance for gene: CHD8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.69 CHD8 Zornitza Stark reviewed gene: CHD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31980904; Phenotypes: {Autism, susceptibility to, 18} 615032, CHD8-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.69 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Overgrowth v0.69 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Green List (High Evidence).
Overgrowth v0.69 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from to Beckwith-Wiedemann syndrome, MIM# 130650
Overgrowth v0.68 CDKN1C Zornitza Stark Mode of inheritance for gene: CDKN1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Overgrowth v0.67 CDKN1C Zornitza Stark reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Overgrowth v0.67 BRWD3 Zornitza Stark Marked gene: BRWD3 as ready
Overgrowth v0.67 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.67 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from to Mental retardation, X-linked 93, MIM# 300659
Overgrowth v0.66 BRWD3 Zornitza Stark Publications for gene: BRWD3 were set to
Overgrowth v0.65 BRWD3 Zornitza Stark Mode of inheritance for gene: BRWD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.64 BRWD3 Zornitza Stark Classified gene: BRWD3 as Amber List (moderate evidence)
Overgrowth v0.64 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.63 BRWD3 Zornitza Stark reviewed gene: BRWD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 17668385; Phenotypes: Mental retardation, X-linked 93, MIM# 300659; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.61 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Overgrowth v0.60 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Overgrowth v0.60 EZH2 Zornitza Stark Gene: ezh2 has been classified as Green List (High Evidence).
Overgrowth v0.60 EZH2 Zornitza Stark Phenotypes for gene: EZH2 were changed from to Weaver syndrome MIM#277590
Overgrowth v0.59 EZH2 Zornitza Stark Publications for gene: EZH2 were set to
Overgrowth v0.58 EZH2 Zornitza Stark Mode of inheritance for gene: EZH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.57 EZH2 Zornitza Stark reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29244146, 23865096; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.57 SUZ12 Zornitza Stark Marked gene: SUZ12 as ready
Overgrowth v0.57 SUZ12 Zornitza Stark Gene: suz12 has been classified as Green List (High Evidence).
Overgrowth v0.57 SUZ12 Zornitza Stark Phenotypes for gene: SUZ12 were changed from to Imagawa-Matsumoto syndrome, MIM# 618786
Overgrowth v0.56 SUZ12 Zornitza Stark Publications for gene: SUZ12 were set to
Overgrowth v0.55 SUZ12 Zornitza Stark Mode of inheritance for gene: SUZ12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.54 SUZ12 Zornitza Stark reviewed gene: SUZ12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31736240, 28229514; Phenotypes: Imagawa-Matsumoto syndrome, MIM# 618786; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.54 RNF125 Zornitza Stark changed review comment from: At least 3 unrelated families reported.; to: At least 3 unrelated families reported, overgrowth is a key feature.
Overgrowth v0.54 RNF125 Zornitza Stark Marked gene: RNF125 as ready
Overgrowth v0.54 RNF125 Zornitza Stark Gene: rnf125 has been classified as Green List (High Evidence).
Overgrowth v0.54 RNF125 Zornitza Stark Phenotypes for gene: RNF125 were changed from to Tenorio syndrome, MIM# 616260
Overgrowth v0.53 RNF125 Zornitza Stark Publications for gene: RNF125 were set to
Overgrowth v0.52 RNF125 Zornitza Stark Mode of inheritance for gene: RNF125 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.51 RNF125 Zornitza Stark reviewed gene: RNF125: Rating: GREEN; Mode of pathogenicity: None; Publications: 25196541; Phenotypes: Tenorio syndrome, MIM# 616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.51 PTCH1 Zornitza Stark Marked gene: PTCH1 as ready
Overgrowth v0.51 PTCH1 Zornitza Stark Gene: ptch1 has been classified as Red List (Low Evidence).
Overgrowth v0.51 PTCH1 Zornitza Stark Phenotypes for gene: PTCH1 were changed from to Basal cell nevus syndrome, MIM# 109400
Overgrowth v0.50 PTCH1 Zornitza Stark Classified gene: PTCH1 as Red List (low evidence)
Overgrowth v0.50 PTCH1 Zornitza Stark Gene: ptch1 has been classified as Red List (Low Evidence).
Overgrowth v0.49 PTCH1 Zornitza Stark reviewed gene: PTCH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal cell nevus syndrome, MIM# 109400; Mode of inheritance: None
Overgrowth v0.49 PPP2R5D Zornitza Stark Marked gene: PPP2R5D as ready
Overgrowth v0.49 PPP2R5D Zornitza Stark Gene: ppp2r5d has been classified as Red List (Low Evidence).
Overgrowth v0.49 PPP2R5D Zornitza Stark Phenotypes for gene: PPP2R5D were changed from to Mental retardation, autosomal dominant 35, MIM# 616355
Overgrowth v0.48 PPP2R5D Zornitza Stark Publications for gene: PPP2R5D were set to
Overgrowth v0.47 PPP2R5D Zornitza Stark Mode of inheritance for gene: PPP2R5D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.46 PPP2R5D Zornitza Stark Classified gene: PPP2R5D as Red List (low evidence)
Overgrowth v0.46 PPP2R5D Zornitza Stark Gene: ppp2r5d has been classified as Red List (Low Evidence).
Overgrowth v0.45 PPP2R5D Zornitza Stark reviewed gene: PPP2R5D: Rating: RED; Mode of pathogenicity: None; Publications: 26168268, 25972378, 25533962; Phenotypes: Mental retardation, autosomal dominant 35, MIM# 616355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.45 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Overgrowth v0.45 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Overgrowth v0.45 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from to Cowden syndrome 5, MIM# 615108
Overgrowth v0.44 PIK3CA Zornitza Stark Publications for gene: PIK3CA were set to
Overgrowth v0.43 PIK3CA Zornitza Stark Mode of inheritance for gene: PIK3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.42 PIK3CA Zornitza Stark reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246288, 32362992, 31929958; Phenotypes: Cowden syndrome 5, MIM# 615108; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.42 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Overgrowth v0.42 PHF6 Zornitza Stark Gene: phf6 has been classified as Red List (Low Evidence).
Overgrowth v0.42 PHF6 Zornitza Stark Phenotypes for gene: PHF6 were changed from to Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Overgrowth v0.41 PHF6 Zornitza Stark Mode of inheritance for gene: PHF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Overgrowth v0.40 PHF6 Zornitza Stark Classified gene: PHF6 as Red List (low evidence)
Overgrowth v0.40 PHF6 Zornitza Stark Gene: phf6 has been classified as Red List (Low Evidence).
Overgrowth v0.39 PHF6 Zornitza Stark reviewed gene: PHF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Overgrowth v0.39 PDGFRB Zornitza Stark Marked gene: PDGFRB as ready
Overgrowth v0.39 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Overgrowth v0.39 PDGFRB Zornitza Stark Phenotypes for gene: PDGFRB were changed from to Kosaki overgrowth syndrome, MIM# 616592
Overgrowth v0.38 PDGFRB Zornitza Stark Publications for gene: PDGFRB were set to
Overgrowth v0.37 PDGFRB Zornitza Stark Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.36 PDGFRB Zornitza Stark reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25454926, 32291752, 30941910, 29226947; Phenotypes: Kosaki overgrowth syndrome, MIM# 616592; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.36 Zornitza Stark removed gene:NPR3 from the panel
Overgrowth v0.35 NPR3 Zornitza Stark changed review comment from: Four affected individuals from three unrelated families.; to: Four affected individuals from three unrelated families, however phenotype is more Marfanoid, rather than generalised overgrowth.
Overgrowth v0.35 NPR3 Zornitza Stark edited their review of gene: NPR3: Changed rating: AMBER
Overgrowth v0.35 MED12 Zornitza Stark Marked gene: MED12 as ready
Overgrowth v0.35 MED12 Zornitza Stark Gene: med12 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.35 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from to Lujan-Fryns syndrome, MIM# 309520; Opitz-Kaveggia syndrome, MIM# 305450
Overgrowth v0.34 MED12 Zornitza Stark Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Overgrowth v0.33 MED12 Zornitza Stark Classified gene: MED12 as Amber List (moderate evidence)
Overgrowth v0.33 MED12 Zornitza Stark Gene: med12 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.32 MED12 Zornitza Stark reviewed gene: MED12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Lujan-Fryns syndrome, MIM# 309520, Opitz-Kaveggia syndrome, MIM# 305450; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Overgrowth v0.32 KMT5B Zornitza Stark Classified gene: KMT5B as Amber List (moderate evidence)
Overgrowth v0.32 KMT5B Zornitza Stark Gene: kmt5b has been classified as Amber List (Moderate Evidence).
Overgrowth v0.31 KMT5B Zornitza Stark changed review comment from: Tendency towards taller height reported in some affected individuals.; to: Tendency towards taller height reported in some affected individuals, overgrowth is not a prominent/consistent feature.
Overgrowth v0.31 KMT5B Zornitza Stark edited their review of gene: KMT5B: Changed rating: AMBER
Overgrowth v0.31 GLI3 Zornitza Stark Marked gene: GLI3 as ready
Overgrowth v0.31 GLI3 Zornitza Stark Gene: gli3 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.31 GLI3 Zornitza Stark Classified gene: GLI3 as Amber List (moderate evidence)
Overgrowth v0.31 GLI3 Zornitza Stark Gene: gli3 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.30 GLI3 Zornitza Stark reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Overgrowth v0.30 DIS3L2 Zornitza Stark Tag SV/CNV tag was added to gene: DIS3L2.
Overgrowth v0.30 DIS3L2 Zornitza Stark Marked gene: DIS3L2 as ready
Overgrowth v0.30 DIS3L2 Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence).
Overgrowth v0.30 DIS3L2 Zornitza Stark Phenotypes for gene: DIS3L2 were changed from to Perlman syndrome, MIM# 267000
Overgrowth v0.29 DIS3L2 Zornitza Stark Publications for gene: DIS3L2 were set to
Overgrowth v0.28 DIS3L2 Zornitza Stark Mode of inheritance for gene: DIS3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Overgrowth v0.27 DIS3L2 Zornitza Stark reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22306653, 28328139, 29950491; Phenotypes: Perlman syndrome, MIM# 267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Overgrowth v0.27 AKT2 Zornitza Stark Marked gene: AKT2 as ready
Overgrowth v0.27 AKT2 Zornitza Stark Gene: akt2 has been classified as Green List (High Evidence).
Overgrowth v0.27 AKT2 Zornitza Stark Classified gene: AKT2 as Green List (high evidence)
Overgrowth v0.27 AKT2 Zornitza Stark Gene: akt2 has been classified as Green List (High Evidence).
Overgrowth v0.26 AKT2 Zornitza Stark gene: AKT2 was added
gene: AKT2 was added to Overgrowth. Sources: Expert list
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT2 were set to 21979934
Phenotypes for gene: AKT2 were set to Hypoinsulinemic hypoglycemia with hemihypertrophy, MIM# 240900
Mode of pathogenicity for gene: AKT2 was set to Other
Review for gene: AKT2 was set to GREEN
Added comment: Three unrelated individuals reported with same de novo recurring missense variant, postulated to be activating, E17K.
Sources: Expert list
Overgrowth v0.25 ABCC9 Zornitza Stark Marked gene: ABCC9 as ready
Overgrowth v0.25 ABCC9 Zornitza Stark Gene: abcc9 has been classified as Green List (High Evidence).
Overgrowth v0.25 ABCC9 Zornitza Stark Phenotypes for gene: ABCC9 were changed from to Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome
Overgrowth v0.24 ABCC9 Zornitza Stark Publications for gene: ABCC9 were set to
Overgrowth v0.23 ABCC9 Zornitza Stark Mode of inheritance for gene: ABCC9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.22 ABCC9 Zornitza Stark reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 22610116, 22608503; Phenotypes: Hypertrichotic osteochondrodysplasia, MIM# 239850, Cantu syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.22 SETD2 Zornitza Stark Marked gene: SETD2 as ready
Overgrowth v0.22 SETD2 Zornitza Stark Gene: setd2 has been classified as Green List (High Evidence).
Overgrowth v0.22 SETD2 Zornitza Stark Phenotypes for gene: SETD2 were changed from to Luscan-Lumish syndrome, MIM#616831
Overgrowth v0.21 SETD2 Zornitza Stark Publications for gene: SETD2 were set to
Overgrowth v0.20 SETD2 Zornitza Stark Mode of inheritance for gene: SETD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.19 SETD2 Zornitza Stark reviewed gene: SETD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681085; Phenotypes: Luscan-Lumish syndrome, MIM#616831; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.19 TCF20 Zornitza Stark Marked gene: TCF20 as ready
Overgrowth v0.19 TCF20 Zornitza Stark Gene: tcf20 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.19 TCF20 Zornitza Stark Phenotypes for gene: TCF20 were changed from to Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430
Overgrowth v0.18 TCF20 Zornitza Stark Publications for gene: TCF20 were set to
Overgrowth v0.17 TCF20 Zornitza Stark Mode of inheritance for gene: TCF20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.16 TCF20 Zornitza Stark Classified gene: TCF20 as Amber List (moderate evidence)
Overgrowth v0.16 TCF20 Zornitza Stark Gene: tcf20 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.15 TCF20 Zornitza Stark reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: None; Publications: 30739909, 30819258, 25228304; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.15 FIBP Zornitza Stark Marked gene: FIBP as ready
Overgrowth v0.15 FIBP Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence).
Overgrowth v0.15 FIBP Zornitza Stark Phenotypes for gene: FIBP were changed from to Thauvin-Robinet-Faivre syndrome, MIM#617107
Overgrowth v0.14 FIBP Zornitza Stark Publications for gene: FIBP were set to
Overgrowth v0.13 FIBP Zornitza Stark Mode of inheritance for gene: FIBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Overgrowth v0.12 FIBP Zornitza Stark Classified gene: FIBP as Amber List (moderate evidence)
Overgrowth v0.12 FIBP Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence).
Overgrowth v0.11 FIBP Zornitza Stark reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 26660953, 27183861; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Overgrowth v0.11 KMT5B Zornitza Stark Marked gene: KMT5B as ready
Overgrowth v0.11 KMT5B Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence).
Overgrowth v0.11 KMT5B Zornitza Stark Publications for gene: KMT5B were set to
Overgrowth v0.10 KMT5B Zornitza Stark Phenotypes for gene: KMT5B were changed from to Mental retardation, autosomal dominant 51, MIM#617788
Overgrowth v0.9 KMT5B Zornitza Stark Mode of inheritance for gene: KMT5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.8 KMT5B Zornitza Stark reviewed gene: KMT5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 51, MIM#617788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.8 Zornitza Stark Panel name changed from Overgrowth_VCGS to Overgrowth
Panel types changed to Victorian Clinical Genetics Services
Overgrowth v0.7 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman syndrome, OMIM# 615879 to Tatton-Brown-Rahman syndrome, OMIM# 615879
Overgrowth v0.6 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Overgrowth v0.6 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Overgrowth v0.6 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Tatton-Brown-Rahman syndrome, OMIM# 615879
Overgrowth v0.6 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.5 DNMT3A Zornitza Stark Publications for gene: DNMT3A were set to
Overgrowth v0.5 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.4 DNMT3A Zornitza Stark reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614070; Phenotypes: Tatton-Brown-Rahman syndrome, OMIM# 615879; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.4 NPR3 Zornitza Stark Marked gene: NPR3 as ready
Overgrowth v0.4 NPR3 Zornitza Stark Gene: npr3 has been classified as Green List (High Evidence).
Overgrowth v0.4 NPR3 Zornitza Stark Phenotypes for gene: NPR3 were changed from to Tall stature, skeletal abnormalities, aortic dilatation
Overgrowth v0.3 NPR3 Zornitza Stark Publications for gene: NPR3 were set to
Overgrowth v0.3 NPR3 Zornitza Stark Mode of inheritance for gene: NPR3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Overgrowth v0.2 NPR3 Zornitza Stark reviewed gene: NPR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30032985; Phenotypes: Tall stature, skeletal abnormalities, aortic dilatation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Overgrowth v0.2 RNF135 Zornitza Stark Marked gene: RNF135 as ready
Overgrowth v0.2 RNF135 Zornitza Stark Gene: rnf135 has been classified as Red List (Low Evidence).
Overgrowth v0.2 RNF135 Zornitza Stark Classified gene: RNF135 as Red List (low evidence)
Overgrowth v0.2 RNF135 Zornitza Stark Gene: rnf135 has been classified as Red List (Low Evidence).
Overgrowth v0.0 TCF20 Zornitza Stark gene: TCF20 was added
gene: TCF20 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCF20 was set to Unknown
Overgrowth v0.0 SUZ12 Zornitza Stark gene: SUZ12 was added
gene: SUZ12 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SUZ12 was set to Unknown
Overgrowth v0.0 SETD2 Zornitza Stark gene: SETD2 was added
gene: SETD2 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SETD2 was set to Unknown
Overgrowth v0.0 RNF135 Zornitza Stark gene: RNF135 was added
gene: RNF135 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNF135 was set to Unknown
Overgrowth v0.0 RNF125 Zornitza Stark gene: RNF125 was added
gene: RNF125 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNF125 was set to Unknown
Overgrowth v0.0 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTEN was set to Unknown
Overgrowth v0.0 PTCH1 Zornitza Stark gene: PTCH1 was added
gene: PTCH1 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTCH1 was set to Unknown
Overgrowth v0.0 PPP2R5D Zornitza Stark gene: PPP2R5D was added
gene: PPP2R5D was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPP2R5D was set to Unknown
Overgrowth v0.0 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIK3CA was set to Unknown
Overgrowth v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PHF6 was set to Unknown
Overgrowth v0.0 PDGFRB Zornitza Stark gene: PDGFRB was added
gene: PDGFRB was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDGFRB was set to Unknown
Overgrowth v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OFD1 was set to Unknown
Overgrowth v0.0 NSD1 Zornitza Stark gene: NSD1 was added
gene: NSD1 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NSD1 was set to Unknown
Overgrowth v0.0 NPR3 Zornitza Stark gene: NPR3 was added
gene: NPR3 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPR3 was set to Unknown
Overgrowth v0.0 NFIX Zornitza Stark gene: NFIX was added
gene: NFIX was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NFIX was set to Unknown
Overgrowth v0.0 MTOR Zornitza Stark gene: MTOR was added
gene: MTOR was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MTOR was set to Unknown
Overgrowth v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MED12 was set to Unknown
Overgrowth v0.0 KMT5B Zornitza Stark gene: KMT5B was added
gene: KMT5B was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KMT5B was set to Unknown
Overgrowth v0.0 HIST1H1E Zornitza Stark gene: HIST1H1E was added
gene: HIST1H1E was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HIST1H1E was set to Unknown
Overgrowth v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GPC3 was set to Unknown
Overgrowth v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLI3 was set to Unknown
Overgrowth v0.0 FIBP Zornitza Stark gene: FIBP was added
gene: FIBP was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FIBP was set to Unknown
Overgrowth v0.0 EZH2 Zornitza Stark gene: EZH2 was added
gene: EZH2 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EZH2 was set to Unknown
Overgrowth v0.0 EED Zornitza Stark gene: EED was added
gene: EED was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EED was set to Unknown
Overgrowth v0.0 DNMT3A Zornitza Stark gene: DNMT3A was added
gene: DNMT3A was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNMT3A was set to Unknown
Overgrowth v0.0 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DIS3L2 was set to Unknown
Overgrowth v0.0 CHD8 Zornitza Stark gene: CHD8 was added
gene: CHD8 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD8 was set to Unknown
Overgrowth v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDKN1C was set to Unknown
Overgrowth v0.0 BRWD3 Zornitza Stark gene: BRWD3 was added
gene: BRWD3 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRWD3 was set to Unknown
Overgrowth v0.0 ABCC9 Zornitza Stark gene: ABCC9 was added
gene: ABCC9 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCC9 was set to Unknown
Overgrowth v0.0 Zornitza Stark Added panel Overgrowth_VCGS