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Lymphoedema_syndromic v0.12 Zornitza Stark HPO terms changed from to Lymphedema, HP:0001004
List of related panels changed from to Lymphedema; HP:0001004
Lymphoedema_syndromic v0.11 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Lymphoedema_syndromic v0.10 SHANK3 Zornitza Stark Marked gene: SHANK3 as ready
Lymphoedema_syndromic v0.10 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Lymphoedema_syndromic v0.10 SHANK3 Zornitza Stark Tag SV/CNV tag was added to gene: SHANK3.
Lymphoedema_syndromic v0.10 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome 606232 to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652
Lymphoedema_syndromic v0.9 SHANK3 Zornitza Stark Publications for gene: SHANK3 were set to
Lymphoedema_syndromic v0.8 SHANK3 Zornitza Stark Mode of inheritance for gene: SHANK3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lymphoedema_syndromic v0.7 SHANK3 Zornitza Stark reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31319798; Phenotypes: Phelan-McDermid syndrome, MIM# 606232, MONDO:0011652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lymphoedema_syndromic v0.7 KIF11 Zornitza Stark Marked gene: KIF11 as ready
Lymphoedema_syndromic v0.7 KIF11 Zornitza Stark Gene: kif11 has been classified as Green List (High Evidence).
Lymphoedema_syndromic v0.7 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MCLMR 152950 to Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918
Lymphoedema_syndromic v0.6 KIF11 Zornitza Stark Publications for gene: KIF11 were set to 22284827
Lymphoedema_syndromic v0.5 KIF11 Zornitza Stark reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 22284827, 25115524, 25124931, 27212378, 32730767, 31993640, 25996076; Phenotypes: Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950, MONDO:0007918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lymphoedema_syndromic v0.5 SOS2 Zornitza Stark Marked gene: SOS2 as ready
Lymphoedema_syndromic v0.5 SOS2 Zornitza Stark Gene: sos2 has been classified as Green List (High Evidence).
Lymphoedema_syndromic v0.5 SOS2 Zornitza Stark Publications for gene: SOS2 were set to 25795793; 26173643
Lymphoedema_syndromic v0.4 SOS2 Zornitza Stark reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25795793, 32788663; Phenotypes: Noonan syndrome 9, MIM# 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lymphoedema_syndromic v0.4 FBXL7 Zornitza Stark Marked gene: FBXL7 as ready
Lymphoedema_syndromic v0.4 FBXL7 Zornitza Stark Gene: fbxl7 has been classified as Red List (Low Evidence).
Lymphoedema_syndromic v0.4 FBXL7 Zornitza Stark gene: FBXL7 was added
gene: FBXL7 was added to Lymphoedema_syndromic. Sources: Literature
Mode of inheritance for gene: FBXL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL7 were set to 31633297
Phenotypes for gene: FBXL7 were set to Hennekam syndrome; lymphedema
Review for gene: FBXL7 was set to RED
Added comment: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous.
Patient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae.
Sources: Literature
Lymphoedema_syndromic v0.3 ADAMTS3 Zornitza Stark Marked gene: ADAMTS3 as ready
Lymphoedema_syndromic v0.3 ADAMTS3 Zornitza Stark Gene: adamts3 has been classified as Green List (High Evidence).
Lymphoedema_syndromic v0.3 ADAMTS3 Zornitza Stark Classified gene: ADAMTS3 as Green List (high evidence)
Lymphoedema_syndromic v0.3 ADAMTS3 Zornitza Stark Gene: adamts3 has been classified as Green List (High Evidence).
Lymphoedema_syndromic v0.2 ADAMTS3 Zornitza Stark gene: ADAMTS3 was added
gene: ADAMTS3 was added to Lymphoedema_syndromic. Sources: Expert Review
Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS3 were set to 28985353; 30450763
Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3 (618154)
Review for gene: ADAMTS3 was set to GREEN
Added comment: Two families and functional data. Some dysmorphism described.
Sources: Expert Review
Lymphoedema_syndromic v0.1 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Lymphoedema_syndromic v0.1 CHD7 Zornitza Stark Gene: chd7 has been classified as Red List (Low Evidence).
Lymphoedema_syndromic v0.1 CHD7 Zornitza Stark Classified gene: CHD7 as Red List (low evidence)
Lymphoedema_syndromic v0.1 CHD7 Zornitza Stark Gene: chd7 has been classified as Red List (Low Evidence).
Lymphoedema_syndromic v0.0 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lymphoedema_syndromic v0.0 ZNHIT3 Sue White gene: ZNHIT3 was added
gene: ZNHIT3 was added to Lymphoedema_syndromic. Sources: Expert Review Red,Other
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNHIT3 were set to 28335020
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, 260565
Lymphoedema_syndromic v0.0 TTR Sue White gene: TTR was added
gene: TTR was added to Lymphoedema_syndromic. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTR were set to 31118583; 30120737; 31131842; 31111153; 30878017
Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related 105210; Carpal tunnel syndrome, familial 115430; Dystransthyretinemic hyperthyroxinemia 145680
Lymphoedema_syndromic v0.0 MPI Sue White gene: MPI was added
gene: MPI was added to Lymphoedema_syndromic. Sources: Expert list
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Lymphoedema_syndromic v0.0 MET Sue White gene: MET was added
gene: MET was added to Lymphoedema_syndromic. Sources: Expert list
Mode of inheritance for gene: MET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MET were set to 18564920
Lymphoedema_syndromic v0.0 HGF Sue White gene: HGF was added
gene: HGF was added to Lymphoedema_syndromic. Sources: Expert list
Mode of inheritance for gene: HGF was set to Unknown
Publications for gene: HGF were set to 18564920
Lymphoedema_syndromic v0.0 CDC42 Sue White gene: CDC42 was added
gene: CDC42 was added to Lymphoedema_syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CDC42 was set to Unknown
Publications for gene: CDC42 were set to 26708094
Phenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome 616737
Lymphoedema_syndromic v0.0 CCDC88A Sue White gene: CCDC88A was added
gene: CCDC88A was added to Lymphoedema_syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC88A were set to 26917597
Phenotypes for gene: CCDC88A were set to ?PEHO syndrome-like, 617507
Lymphoedema_syndromic v0.0 AQP1 Sue White gene: AQP1 was added
gene: AQP1 was added to Lymphoedema_syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: AQP1 was set to Unknown
Publications for gene: AQP1 were set to 11463012
Phenotypes for gene: AQP1 were set to [Blood group, Colton] 110450; Aquaporin-1 deficiency
Lymphoedema_syndromic v0.0 ALX3 Sue White gene: ALX3 was added
gene: ALX3 was added to Lymphoedema_syndromic. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen,UKGTN
Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALX3 were set to 15127764
Phenotypes for gene: ALX3 were set to Frontonasal dysplasia 1 136760
Lymphoedema_syndromic v0.0 ALG8 Sue White gene: ALG8 was added
gene: ALG8 was added to Lymphoedema_syndromic. Sources: Expert list
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG8 were set to 12480927; 15235028
Lymphoedema_syndromic v0.0 VEGFC Sue White gene: VEGFC was added
gene: VEGFC was added to Lymphoedema_syndromic. Sources: Expert list,London South GLH,Expert Review Green
Mode of inheritance for gene: VEGFC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VEGFC were set to 30071673; 24744435; 23410910; 14634646
Phenotypes for gene: VEGFC were set to Lymphedema, hereditary, ID 615907 (Primary Lymphoedema, Milroy-like)
Lymphoedema_syndromic v0.0 TSC2 Sue White gene: TSC2 was added
gene: TSC2 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC2 were set to Lymphangioleiomyomatosis, somatic 606690; ?Focal cortical dysplasia, type II, somatic 607341; Tuberous sclerosis-2 613254
Lymphoedema_syndromic v0.0 TSC1 Sue White gene: TSC1 was added
gene: TSC1 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC1 were set to Tuberous sclerosis-1 191100; Lymphangioleiomyomatosis 606690; Focal cortical dysplasia, type II, somatic 607341
Lymphoedema_syndromic v0.0 SPRED1 Sue White gene: SPRED1 was added
gene: SPRED1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPRED1 were set to 19366998; 17704776; 19443465; 21548021; 21649642
Phenotypes for gene: SPRED1 were set to Legius syndrome 611431
Lymphoedema_syndromic v0.0 SOX18 Sue White gene: SOX18 was added
gene: SOX18 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SOX18 were set to 26148450; 12740761
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
Lymphoedema_syndromic v0.0 SOS2 Sue White gene: SOS2 was added
gene: SOS2 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS2 were set to 25795793; 26173643
Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559
Mode of pathogenicity for gene: SOS2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 SOS1 Sue White gene: SOS1 was added
gene: SOS1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS1 were set to 19438935; 17143285; 17143282; 17586837
Phenotypes for gene: SOS1 were set to Noonan syndrome 4 610733
Mode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 SHOC2 Sue White gene: SHOC2 was added
gene: SHOC2 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHOC2 were set to 23918763; 19684605; 22528146
Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair 607721
Lymphoedema_syndromic v0.0 SHANK3 Sue White gene: SHANK3 was added
gene: SHANK3 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome 606232
Lymphoedema_syndromic v0.0 RIT1 Sue White gene: RIT1 was added
gene: RIT1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RIT1 were set to 23791108; 24939608; 25124994
Phenotypes for gene: RIT1 were set to Noonan syndrome 8 615355
Mode of pathogenicity for gene: RIT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 RASA1 Sue White gene: RASA1 was added
gene: RASA1 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RASA1 were set to 26969842; 22342634; 23650393
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 1 608354
Lymphoedema_syndromic v0.0 RAF1 Sue White gene: RAF1 was added
gene: RAF1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAF1 were set to 17603483; 17603482
Phenotypes for gene: RAF1 were set to Noonan syndrome 5 611553; LEOPARD syndrome 2 611554
Mode of pathogenicity for gene: RAF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 PTPN14 Sue White gene: PTPN14 was added
gene: PTPN14 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN14 were set to 24167460; 20826270
Phenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema, 613611
Lymphoedema_syndromic v0.0 PTPN11 Sue White gene: PTPN11 was added
gene: PTPN11 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTPN11 were set to 17497712; 12634870; 15384080; 17603483; 12529711; 15240615; 18678287; 16263833; 11704759
Phenotypes for gene: PTPN11 were set to Noonan syndrome 1 163950; LEOPARD syndrome 1 151100
Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments
Lymphoedema_syndromic v0.0 PPP1CB Sue White gene: PPP1CB was added
gene: PPP1CB was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1CB were set to 27264673; 27681385; 28211982
Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2 617506
Lymphoedema_syndromic v0.0 PMM2 Sue White gene: PMM2 was added
gene: PMM2 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 9762608; 15645285; 20638314; 17158594
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia 212065
Lymphoedema_syndromic v0.0 PIEZO1 Sue White gene: PIEZO1 was added
gene: PIEZO1 was added to Lymphoedema_syndromic. Sources: Expert list,London South GLH,Expert Review Green
Mode of inheritance for gene: PIEZO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PIEZO1 were set to 26333996; 26387913
Phenotypes for gene: PIEZO1 were set to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380; Lymphatic malformation 6 616843
Lymphoedema_syndromic v0.0 NSD1 Sue White gene: NSD1 was added
gene: NSD1 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NSD1 were set to 26738611; 9781911
Phenotypes for gene: NSD1 were set to Sotos syndrome 1 117550
Lymphoedema_syndromic v0.0 NRAS Sue White gene: NRAS was added
gene: NRAS was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NRAS were set to 19775298; 19966803
Phenotypes for gene: NRAS were set to Noonan syndrome 6 613224
Mode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 NF1 Sue White gene: NF1 was added
gene: NF1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NF1 were set to 19845691; 16380919; 12707950
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 162200; Neurofibromatosis-Noonan syndrome 601321
Lymphoedema_syndromic v0.0 MAP2K2 Sue White gene: MAP2K2 was added
gene: MAP2K2 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP2K2 were set to 21396583; 23379592
Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome 4 615280
Mode of pathogenicity for gene: MAP2K2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 MAP2K1 Sue White gene: MAP2K1 was added
gene: MAP2K1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP2K1 were set to 21396583; 23321623
Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome 3 615279
Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 LZTR1 Sue White gene: LZTR1 was added
gene: LZTR1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to 25795793; 29469822
Phenotypes for gene: LZTR1 were set to Schwannomatosis-2, susceptibility to 615670; Noonan syndrome 10 616564
Lymphoedema_syndromic v0.0 KRAS Sue White gene: KRAS was added
gene: KRAS was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRAS were set to 21396583
Phenotypes for gene: KRAS were set to Cardiofaciocutaneous syndrome 2 615278; Noonan syndrome 3 609942
Mode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 KIF11 Sue White gene: KIF11 was added
gene: KIF11 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF11 were set to 22284827
Phenotypes for gene: KIF11 were set to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MCLMR 152950
Lymphoedema_syndromic v0.0 IKBKG Sue White gene: IKBKG was added
gene: IKBKG was added to Lymphoedema_syndromic. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: IKBKG 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: IKBKG were set to 11242109
Phenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
Lymphoedema_syndromic v0.0 HRAS Sue White gene: HRAS was added
gene: HRAS was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HRAS were set to 21396583; 16969868; 16443854; 16170316
Phenotypes for gene: HRAS were set to Costello syndrome 218040
Mode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 GJC2 Sue White gene: GJC2 was added
gene: GJC2 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: GJC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJC2 were set to Lymphedema, hereditary, IC, 613480
Lymphoedema_syndromic v0.0 GJA1 Sue White gene: GJA1 was added
gene: GJA1 was added to Lymphoedema_syndromic. Sources: Expert list,London South GLH,Expert Review Green
Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJA1 were set to 23550541
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia 164200
Lymphoedema_syndromic v0.0 GATA2 Sue White gene: GATA2 was added
gene: GATA2 was added to Lymphoedema_syndromic. Sources: London South GLH,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert Review Green
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA2 were set to 21892158
Phenotypes for gene: GATA2 were set to {Myelodysplastic syndrome, susceptibility to} 614286; Emberger Syndrome 614038
Lymphoedema_syndromic v0.0 FOXC2 Sue White gene: FOXC2 was added
gene: FOXC2 was added to Lymphoedema_syndromic. Sources: Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN,Expert Review Green,London South GLH
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC2 were set to 11078474
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome, 153400; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
Lymphoedema_syndromic v0.0 FAT4 Sue White gene: FAT4 was added
gene: FAT4 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT4 were set to 24913602
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, 616006; Van Maldergem syndrome 2, 615546
Lymphoedema_syndromic v0.0 CHD7 Sue White gene: CHD7 was added
gene: CHD7 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD7 were set to 16155193; 15300250; 16400610
Phenotypes for gene: CHD7 were set to CHARGE syndrome 214800
Lymphoedema_syndromic v0.0 CCBE1 Sue White gene: CCBE1 was added
gene: CCBE1 was added to Lymphoedema_syndromic. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert Review Green,London South GLH
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam Lymphangiectasia-Lymphedema Syndrome; Hennekam lymphangiectasia-lymphedema syndrome, 235510
Lymphoedema_syndromic v0.0 CBL Sue White gene: CBL was added
gene: CBL was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBL were set to 19571318; 20619386; 20543203
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Mode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 BRAF Sue White gene: BRAF was added
gene: BRAF was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRAF were set to 21396583; 19206169
Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome 115150; Noonan syndrome 7 613706; LEOPARD syndrome 3 613707
Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema_syndromic v0.0 Sue White Added panel Lymphoedema_syndromic