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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.120 | AKT3 | Arina Puzriakova Phenotypes for gene: AKT3 were changed from Human overgrowth syndrome type; Overgrowth with Intellectual disability to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.119 | ZBTB7A | Sarah Leigh Phenotypes for gene: ZBTB7A were changed from intellectual disability; macrocephaly; overgrowth to Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.118 | ZBTB7A | Sarah Leigh Publications for gene: ZBTB7A were set to 34515416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.117 | ZBTB7A | Sarah Leigh Classified gene: ZBTB7A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.117 | ZBTB7A | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least 11 variants have been reported in 10 unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.117 | ZBTB7A | Sarah Leigh Gene: zbtb7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.116 | ZBTB7A |
Julia Baptista gene: ZBTB7A was added gene: ZBTB7A was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Literature Mode of inheritance for gene: ZBTB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZBTB7A were set to 34515416 Phenotypes for gene: ZBTB7A were set to intellectual disability; macrocephaly; overgrowth Review for gene: ZBTB7A was set to GREEN gene: ZBTB7A was marked as current diagnostic Added comment: Syndromic mild ID reported in 12 individuals from 10 families. Additional clinical features included macrocephaly, and overgrowth of adenoid tissue. De novo variants confirmed in eight families. Frameshift, nonsense and missense variants identified throughout the gene. Sources: Literature |
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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.116 | ISCA-37425-Loss | Arina Puzriakova commented on Region: ISCA-37425-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.116 | ISCA-37425-Loss |
Arina Puzriakova GRCh38 position for ISCA-37425-Loss was changed from 176301975-177586960 to 176301976-177620792. Triplosensitivity Score for ISCA-37425-Loss was changed from to None. Required Overlap Percentage for ISCA-37425-Loss was changed from 80 to 60. |
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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.115 | EZH2 | Ivone Leong Tag for-review was removed from gene: EZH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.115 | EZH2 | Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from "MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)" to "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown" as advised by Sarah Leigh (Genomics England Curator) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.115 | EZH2 | Ivone Leong Mode of inheritance for gene: EZH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.114 | ABCC9 | Ivone Leong Phenotypes for gene: ABCC9 were changed from Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome to Hypertrichotic osteochondrodysplasia, OMIM:239850; Cantu syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.113 | ASXL2 | Ivone Leong Publications for gene: ASXL2 were set to 27693232 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.112 | PDGFRB | Ivone Leong Classified gene: PDGFRB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.112 | PDGFRB | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been given a Green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.112 | PDGFRB | Ivone Leong Gene: pdgfrb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.111 | PDGFRB | Ivone Leong Phenotypes for gene: PDGFRB were changed from Kosaki overgrowth syndrome, MIM# 616592 to Kosaki overgrowth syndrome, OMIM:616592 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.110 | PIK3CA | Ivone Leong Classified gene: PIK3CA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.110 | PIK3CA | Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green based on expert reviews. This gene is associated with a relevant phenotype in OMIM and Gen2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.110 | PIK3CA | Ivone Leong Gene: pik3ca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.109 | PIK3CA | Ivone Leong Phenotypes for gene: PIK3CA were changed from Human overgrowth syndrome type; Overgrowth with Intellectual disability to Human overgrowth syndrome type; Overgrowth with Intellectual disability; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.108 | PIK3CA | Ivone Leong Mode of inheritance for gene: PIK3CA was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.107 | RNF125 | Ivone Leong Classified gene: RNF125 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.107 | RNF125 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been given a Green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.107 | RNF125 | Ivone Leong Gene: rnf125 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.106 | RNF125 | Ivone Leong Phenotypes for gene: RNF125 were changed from Tenorio syndrome, MIM# 616260 to Tenorio syndrome, OMIM:616260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.105 | SETD2 | Ivone Leong Classified gene: SETD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.105 | SETD2 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been given a Green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.105 | SETD2 | Ivone Leong Gene: setd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.104 | SETD2 | Ivone Leong Phenotypes for gene: SETD2 were changed from Luscan-Lumish syndrome, 616831 to Luscan-Lumish syndrome, OMIM:616831 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.103 | AKT2 | Arina Puzriakova Phenotypes for gene: AKT2 were changed from Segmental overgrowth disorders to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.102 | EZH2 | Sarah Leigh Tag for-review tag was added to gene: EZH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.102 | EZH2 |
Sarah Leigh Added comment: Comment on mode of inheritance: EZH2 is a epigene, where LOF or GOF variants result in a characteristic genome-wide, multilocus DNA methylation signature in the carrier. There does not appear to be evidence for allele specificity of this effect and so this gene should not be regarded as imprinted (PMID 32243864). Therefore, the MOI should be changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.102 | EZH2 | Sarah Leigh Mode of inheritance for gene: EZH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.101 | SETD2 | Ivone Leong Publications for gene: SETD2 were set to 29681085 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.100 | SETD2 | Ivone Leong Phenotypes for gene: SETD2 were changed from Luscan-Lumish syndrome, MIM#616831 to Luscan-Lumish syndrome, 616831 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.99 | DIS3L2 | Ivone Leong Classified gene: DIS3L2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.99 | DIS3L2 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence for this gene to be rated Green. It is also Green on Tumour predisposition - childhood onset (Version 2.13), Childhood solid tumours cancer susceptibility (Version 1.13), Skeletal dysplasia (Version 2.19), Fetal anomalies (Version 1.95), DDG2P (Version 2.9), Intellectual disability (Version 3.315) and Severe Paediatric Disorders (Version 1.11). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.99 | DIS3L2 | Ivone Leong Gene: dis3l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.98 | DIS3L2 | Ivone Leong Phenotypes for gene: DIS3L2 were changed from Perlman syndrome, MIM# 267000 to Perlman syndrome, 267000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.97 | SUZ12 | Sarah Leigh Classified gene: SUZ12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.97 | SUZ12 | Sarah Leigh Added comment: Comment on list classification: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.97 | SUZ12 | Sarah Leigh Gene: suz12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.96 | SUZ12 | Sarah Leigh Phenotypes for gene: SUZ12 were changed from Imagawa-Matsumoto syndrome, MIM# 618786 to Imagawa-Matsumoto syndrome 618786 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.95 | SUZ12 | Sarah Leigh Publications for gene: SUZ12 were set to 31736240; 28229514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 | SUZ12 |
Zornitza Stark gene: SUZ12 was added gene: SUZ12 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SUZ12 were set to 31736240; 28229514 Phenotypes for gene: SUZ12 were set to Imagawa-Matsumoto syndrome, MIM# 618786 Review for gene: SUZ12 was set to GREEN gene: SUZ12 was marked as current diagnostic Added comment: More than 10 unrelated individuals reported, overgrowth is a key feature of this syndrome. Sources: Expert list |
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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 | SETD2 |
Zornitza Stark gene: SETD2 was added gene: SETD2 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETD2 were set to 29681085 Phenotypes for gene: SETD2 were set to Luscan-Lumish syndrome, MIM#616831 Review for gene: SETD2 was set to GREEN gene: SETD2 was marked as current diagnostic Added comment: Multiple affected individuals with macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures Sources: Expert list |
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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 | RNF125 |
Zornitza Stark gene: RNF125 was added gene: RNF125 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RNF125 were set to 25196541 Phenotypes for gene: RNF125 were set to Tenorio syndrome, MIM# 616260 Review for gene: RNF125 was set to GREEN Added comment: At least 3 unrelated families reported, overgrowth is a key feature. Sources: Expert list |
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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 | PIK3CA | Zornitza Stark reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246288; Phenotypes: Cowden syndrome 5, MIM# 615108; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 | PDGFRB |
Zornitza Stark gene: PDGFRB was added gene: PDGFRB was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDGFRB were set to 25454926; 32291752; 30941910; 29226947 Phenotypes for gene: PDGFRB were set to Kosaki overgrowth syndrome, MIM# 616592 Review for gene: PDGFRB was set to GREEN gene: PDGFRB was marked as current diagnostic Added comment: Multiple affected individuals reported. Sources: Expert list |
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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 | NFIB | Zornitza Stark reviewed gene: NFIB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 | DIS3L2 |
Zornitza Stark gene: DIS3L2 was added gene: DIS3L2 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DIS3L2 were set to 22306653; 28328139; 29950491 Phenotypes for gene: DIS3L2 were set to Perlman syndrome, MIM# 267000 Review for gene: DIS3L2 was set to GREEN gene: DIS3L2 was marked as current diagnostic Added comment: Neonatal macrosomia and organomegaly. At least 6 families reported (?two Dutch families founder effect), note three had CNVs. Mouse model. Sources: Expert list |
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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 | ASXL2 | Zornitza Stark reviewed gene: ASXL2: Rating: RED; Mode of pathogenicity: None; Publications: 28061364; Phenotypes: Shashi-Pena syndrome, MIM# 617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 | ABCC9 |
Zornitza Stark gene: ABCC9 was added gene: ABCC9 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ABCC9 were set to 22610116; 22608503 Phenotypes for gene: ABCC9 were set to Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome Review for gene: ABCC9 was set to GREEN Added comment: Neonatal macrosomia is a key feature of this syndrome. Sources: Expert list |
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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 | AKT2 | Catherine Snow Classified gene: AKT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 | AKT2 | Catherine Snow Gene: akt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.93 | AKT2 |
Catherine Snow gene: AKT2 was added gene: AKT2 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert Review missense tags were added to gene: AKT2. Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AKT2 were set to 28502730 Phenotypes for gene: AKT2 were set to Segmental overgrowth disorders 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 Green, although admitted "it would be borderline as a mosaic disorder and a single variant". Sources: Expert Review |
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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.92 | HIST1H1E | Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H1E. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.92 | HIST1H1E | Louise Daugherty commented on gene: HIST1H1E: Added new-gene-name tag, new approved HGNC gene symbol for HIST1H1E is H1-4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.92 | MTOR | Louise Daugherty Mode of inheritance for gene: MTOR was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.90 | KCNQ1OT1 | Louise Daugherty commented on gene: KCNQ1OT1: from OMIM : In 2 related individuals with Beckwith-Wiedemann syndrome, Niemitz et al. (2004) described 1 case where the deletion was maternally inherited; in the other, it was paternally inherited. In the case of maternal inheritance, the deletion caused BWS with silencing of p57(KIP2) (CDKN1C; 600856), indicating that an element important for the regulation of p57(KIP2) expression had been deleted. When inherited paternally, there was no BWS phenotype, suggesting that the LIT1 RNA itself is not necessary for normal development in humans. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.90 | HERC1 | Louise Daugherty commented on gene: HERC1: Review and Amber rating from Kate Tatton-Brown April 2017: Limited evidence currently that an overgrowth gene although may be very rare contributor to overgrowth | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.90 | OFD1 | Louise Daugherty reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.90 | OFD1 | Louise Daugherty Publications for gene: OFD1 were set to PMID: 23036093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.89 | HIST1H1E | Louise Daugherty edited their review of gene: HIST1H1E: Added comment: Review and Green rating from Kate Tatton-Brown April 2017 ; Paper in press with AJHG but we only have five cases currently. We need to ascertain more cases before we can say that the gene is an overgrowth gene. We wil be reporting variants in clinical practice soon; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.89 | PPP2R5D | Louise Daugherty edited their review of gene: PPP2R5D: Added comment: Review and Amber rating from Kate Tatton-Brown April 2017: Few cases at the moment to be certain about the phenotype; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.89 | KCNQ1OT1 | Louise Daugherty Classified gene: KCNQ1OT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.89 | KCNQ1OT1 | Louise Daugherty Gene: kcnq1ot1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.88 | KCNQ1OT1 | Louise Daugherty Phenotypes for gene: KCNQ1OT1 were changed from Beckwith-Wiedemann Syndrome to Beckwith-Wiedemann Syndrome, 130650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.87 | KCNQ1OT1 | Louise Daugherty Mode of inheritance for gene: KCNQ1OT1 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.86 | KCNQ1OT1 | Louise Daugherty Classified gene: KCNQ1OT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.86 | KCNQ1OT1 | Louise Daugherty Gene: kcnq1ot1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.85 | MTOR | Louise Daugherty Publications for gene: MTOR were set to 28475857 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.84 | AKT3 | Louise Daugherty Publications for gene: AKT3 were set to 28475857 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.83 | AKT3 | Louise Daugherty Classified gene: AKT3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.83 | AKT3 | Louise Daugherty Gene: akt3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.82 | AKT3 | Louise Daugherty edited their review of gene: AKT3: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.82 | AKT3 |
Louise Daugherty gene: AKT3 was added gene: AKT3 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: AKT3 was set to Other Publications for gene: AKT3 were set to 28475857 Phenotypes for gene: AKT3 were set to Human overgrowth syndrome type; Overgrowth with Intellectual disability Review for gene: AKT3 was set to GREEN Added comment: Review and Green rating from Kate Tatton-Brown April 2017; Paper in press with AJHG. Likely activating mutations Sources: Expert list |
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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.81 | MTOR | Louise Daugherty Classified gene: MTOR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.81 | MTOR | Louise Daugherty Gene: mtor has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.80 | MTOR |
Louise Daugherty gene: MTOR was added gene: MTOR was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: MTOR was set to Other Publications for gene: MTOR were set to 28475857 Phenotypes for gene: MTOR were set to Overgrowth with Intellectual disability; Human overgrowth syndrome type Review for gene: MTOR was set to GREEN Added comment: Review and Green rating from Kate Tatton-Brown April 2017; Paper in press with AJHG. Activating mutations. We wil be reporting variants in clinical practice soon Sources: Expert list |
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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.79 | PIK3CA | Louise Daugherty Classified gene: PIK3CA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.79 | PIK3CA | Louise Daugherty Gene: pik3ca has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.78 | H19 | Louise Daugherty Classified gene: H19 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.78 | H19 | Louise Daugherty Gene: h19 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.77 | H19 | Louise Daugherty Mode of inheritance for gene: H19 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.76 | PIK3CA | Louise Daugherty Publications for gene: PIK3CA were set to 28475857 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.75 | PIK3CA | Louise Daugherty Publications for gene: PIK3CA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.74 | PIK3CA | Louise Daugherty Phenotypes for gene: PIK3CA were changed from Human overgrowth syndrome type to Human overgrowth syndrome type; Overgrowth with Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.73 | PIK3CA | Louise Daugherty Mode of inheritance for gene: PIK3CA was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.72 | PIK3CA | Louise Daugherty edited their review of gene: PIK3CA: Added comment: Review and Green rating from Kate Tatton-Brown April 2017: Activating mutations. We wil be reporting variants in clinical practice soon; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.72 | IGF2 | Louise Daugherty Publications for gene: IGF2 were set to PMID: 17325026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.71 | KCNQ1OT1 | Louise Daugherty reviewed gene: KCNQ1OT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.71 | KCNQ1OT1 | Louise Daugherty Publications for gene: KCNQ1OT1 were set to PMID: 12949703 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.70 | IGF2 | Louise Daugherty reviewed gene: IGF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.70 | H19 | Louise Daugherty Mode of inheritance for gene: H19 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.69 | H19 | Louise Daugherty Publications for gene: H19 were set to PMID: 18836444 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.68 | H19 | Louise Daugherty edited their review of gene: H19: Changed mode of pathogenicity: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.68 | H19 | Louise Daugherty reviewed gene: H19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.68 | CDKN1C | Louise Daugherty Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome; OMIM 130650; IMAGE syndrome, 614732 to Beckwith-Wiedemann syndrome, 130650; IMAGE syndrome, 614732 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.67 | CDKN1C | Louise Daugherty Publications for gene: CDKN1C were set to 20803657; 8841187; 20301568; 22585446; 26077438; 9341892; 26077438; 11414765; 10424811 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.66 | CDKN1C | Louise Daugherty Publications for gene: CDKN1C were set to PMID: 20803657; 8841187; 20301568; 22585446; 26077438; 9341892; 26077438; 11414765; 10424811 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.65 | CDKN1C | Louise Daugherty edited their review of gene: CDKN1C: Added comment: Review and Green rating from Kate Tatton-Brown April 2017: Note the mutations that cause Beckwith are different from the clustered CDKN1C mutations that cause IMAGe syndrome; Changed publications: 20301568, 22585446, 26077438, 9341892, 26077438, 11414765, 10424811, 9311733 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.65 | PTEN | Louise Daugherty Phenotypes for gene: PTEN were changed from Overgrowth with Intellectual disability Human overgrowth syndrome type to Overgrowth with Intellectual disability; Human overgrowth syndrome type | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.64 | PTEN | Louise Daugherty Classified gene: PTEN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.64 | PTEN | Louise Daugherty Gene: pten has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.63 | PTEN | Louise Daugherty Publications for gene: PTEN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.62 | PTEN | Louise Daugherty Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.61 | PTEN | Louise Daugherty Phenotypes for gene: PTEN were changed from Human overgrowth syndrome type to Overgrowth with Intellectual disability Human overgrowth syndrome type | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.60 | PTEN | Louise Daugherty edited their review of gene: PTEN: Added comment: Review and Green rating from Kate Tatton-Brown April 2017; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.60 | EED | Louise Daugherty Phenotypes for gene: EED were changed from Cohen-Gibson syndrome 617561 to Cohen-Gibson syndrome, 617561; Human overgrowth syndrome type; Overgrowth with Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.59 | EED | Louise Daugherty Publications for gene: EED were set to 25787343; 27193220; 27868325; 28229514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.58 | EED | Louise Daugherty edited their review of gene: EED: Added comment: Review and Green rating from Kate Tatton-Brown April 2017. Paper in press with AJHG. Also 28229514, 25787343, 27193220, 27868325. We wil be reporting variants in clinical practice soon; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.58 | BRWD3 | Louise Daugherty Phenotypes for gene: BRWD3 were changed from Mental retardation, X-linked 93, 300659; macrocephaly to Mental retardation, X-linked 93, 300659; macrocephaly; intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.57 | BRWD3 | Louise Daugherty Phenotypes for gene: BRWD3 were changed from Mental retardation, X-linked 93 300659 to Mental retardation, X-linked 93, 300659; macrocephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.56 | BRWD3 | Louise Daugherty Publications for gene: BRWD3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.55 | BRWD3 | Louise Daugherty edited their review of gene: BRWD3: Added comment: Review and Green rating from Kate Tatton-Brown April 2017. The paper is in press with American Journal of Human Genetics. Mutations in BRWD3 cause macrocephaly rather than overgrowth per se. We wil be reporting variants in clinical practice soon; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.55 | CHD8 | Louise Daugherty Classified gene: CHD8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.55 | CHD8 | Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green due to expert external review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.55 | CHD8 | Louise Daugherty Gene: chd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.54 | CHD8 | Louise Daugherty Phenotypes for gene: CHD8 were changed from Overgrowth with Intellectual disability; Human overgrowth syndrome type to {Autism, susceptibility to, 18}, 615032; Overgrowth with Intellectual disability; Human overgrowth syndrome type | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.53 | CHD8 | Louise Daugherty Phenotypes for gene: CHD8 were changed from {Autism, susceptibility to, 18}, 615032; Human overgrowth syndrome type to Overgrowth with Intellectual disability; Human overgrowth syndrome type | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.52 | CHD8 | Louise Daugherty Publications for gene: CHD8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.51 | CHD8 | Louise Daugherty edited their review of gene: CHD8: Added comment: Review and Green rating from Kate Tatton-Brown April 2017. Paper in press with AJHG. We wil be reporting variants in clinical practice soon.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.51 | CHD8 | Louise Daugherty Mode of inheritance for gene: CHD8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.50 | GPC3 | Louise Daugherty reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.50 | GPC3 | Louise Daugherty Publications for gene: GPC3 were set to PMID: 8589713 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.49 | NFIX | Louise Daugherty reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.49 | DNMT3A | Louise Daugherty edited their review of gene: DNMT3A: Added comment: Review and Green rating from Kate Tatton-Brown April 2017: mutations can be difficult to interpret because of clonal haematopoiesis: mechanism of pathogenesis not currently understood- LOF?; Changed publications: 24614070, 26866722, 27701732, 20301652 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.49 | NFIX | Louise Daugherty Publications for gene: NFIX were set to PMID: 25118028 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.48 | NSD1 | Louise Daugherty Publications for gene: NSD1 were set to PMID: 23592277 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.47 | NSD1 | Louise Daugherty Added comment: Comment on publications: 14997421 removed not relevant | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.47 | NSD1 | Louise Daugherty Publications for gene: NSD1 were set to PMID: 23592277; 14997421 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.46 | NSD1 | Louise Daugherty reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.46 | EZH2 | Louise Daugherty Publications for gene: EZH2 were set to 23592277; 22177091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.45 | EZH2 | Louise Daugherty reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.45 | EZH2 | Louise Daugherty Publications for gene: EZH2 were set to PMID: 23592277; 22177091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.44 | NFIB | Ivone Leong Classified gene: NFIB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.44 | NFIB | Ivone Leong Gene: nfib has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.43 | NFIB |
Ivone Leong gene: NFIB was added gene: NFIB was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFIB were set to 30388402 Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, 618286 Review for gene: NFIB was set to GREEN Added comment: NFIB is associated with a phenotype in OMIM and probably associated with a phenotype in Gene2Phenotype. Expert review from Konstantinos Varvagiannis: "Schanze et al. (PMID: 30388402) report on the phenotype related to NFIB haploinsufficiency. 10 individuals with intragenic NFIB or larger deletions encompassing also other genes as well as 8 individuals with nucleotide variants (5 loss-of-function and 3 missense ones) are described. Intellectual disability was a universal feature while macrocephaly was noted in the majority of the patients. The phenotype of individuals deletions was similar to the phenotype of intragenic mutations as also seems to be the case with the degree of ID. Functional studies support loss of function for the pathogenic missense variants reported. Cortical-specific knockout of Nfib in mice results in enlargement of the cortex." -- copied from "Intellectual disability" panel (code: 285). After discussion with the clinical team, it was decided that NFIB is relevant for the " Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders" panel and there is enough evidence to support a gene-disease association. Therefore, NFIB has been given a green gene rating. Sources: Expert list |
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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.42 | ISCA-37425-Loss |
Louise Daugherty Region: ISCA-37425-Loss was added Region: ISCA-37425-Loss was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37425-Loss were set to macrocephaly, overgrowth and advanced bone age; colpocephaly; Sotos syndrome; macrocephaly; 117550; rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw |
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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | DNMT3A | Helen Brittain classified DNMT3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | BRWD3 | Helen Brittain marked BRWD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | BRWD3 | Helen Brittain classified BRWD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | BRWD3 | Helen Brittain reviewed BRWD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | HIST1H1E | Louise Daugherty commented on HIST1H1E | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | ASXL2 | Sarah Leigh classified ASXL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | ASXL2 | Sarah Leigh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | EED | Rebecca Foulger commented on EED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | HIST1H1E | Rebecca Foulger classified HIST1H1E as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | HIST1H1E | Rebecca Foulger edited their review of HIST1H1E | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | EED | Sarah Leigh classified EED as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | EED | Sarah Leigh commented on EED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | EED | Sarah Leigh reviewed EED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | HIST1H1E | Rebecca Foulger commented on HIST1H1E | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | CDKN1C | Helen Brittain classified CDKN1C as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | CDKN1C | Helen Brittain reviewed CDKN1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | HERC1 | Ellen McDonagh commented on HERC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | CDKN1C | Louise Daugherty commented on CDKN1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | PIK3CA | Louise Daugherty added PIK3CA to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | PIK3CA | Louise Daugherty reviewed PIK3CA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | PPP2R5D | Louise Daugherty added PPP2R5D to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | PPP2R5D | Louise Daugherty reviewed PPP2R5D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | PTEN | Louise Daugherty added PTEN to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | PTEN | Louise Daugherty reviewed PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | BRWD3 | Louise Daugherty added BRWD3 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | BRWD3 | Louise Daugherty reviewed BRWD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | EED | Louise Daugherty added EED to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | EED | Louise Daugherty reviewed EED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | CHD8 | Louise Daugherty commented on CHD8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | CHD8 | Louise Daugherty edited their review of CHD8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | CHD8 | Louise Daugherty added CHD8 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | CHD8 | Louise Daugherty reviewed CHD8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | HERC1 | Louise Daugherty edited their review of HERC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | HIST1H1E | Louise Daugherty commented on HIST1H1E | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | HIST1H1E | Louise Daugherty added HIST1H1E to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | HIST1H1E | Louise Daugherty reviewed HIST1H1E | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | DNMT3A | Louise Daugherty edited their review of DNMT3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | DNMT3A | Louise Daugherty edited their review of DNMT3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | HERC1 | Louise Daugherty added HERC1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | HERC1 | Louise Daugherty reviewed HERC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | CDKN1C | Louise Daugherty reviewed CDKN1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | DNMT3A | Louise Daugherty added DNMT3A to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | DNMT3A | Louise Daugherty reviewed DNMT3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | KCNQ1OT1 | Ellen McDonagh commented on KCNQ1OT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | H19 | Ellen McDonagh commented on H19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||