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| Fetal anomalies v0.3587 | MYH3 | Alison Yeung Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A; DISTAL ARTHROGRYPOSIS TYPE 2B to Arthrogryposis, distal, type 2A (Freeman-Sheldon) MIM# 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall) MIM# 618436; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, MIM#178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, MIM# 618469 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1605 | FLNB | Zornitza Stark Phenotypes for gene: FLNB were changed from BOOMERANG DYSPLASIA; SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; ATELOSTEOGENESIS TYPE 3; AUTOSOMAL DOMINANT LARSEN SYNDROME; ATELOSTEOGENESIS TYPE 1 to Larsen syndrome, MIM#150250; Atelosteogenesis, type I, MIM# 108720; Atelosteogenesis, type III, MIM# 108721; Boomerang dysplasia, MIM# 112310; Spondylocarpotarsal synostosis syndrome, MIM# 272460 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1604 | FLNB | Zornitza Stark edited their review of gene: FLNB: Changed rating: GREEN; Changed phenotypes: Larsen syndrome, MIM#150250, Atelosteogenesis, type I, MIM# 108720, Atelosteogenesis, type III, MIM# 108721, Boomerang dysplasia, MIM# 112310, Spondylocarpotarsal synostosis syndrome, MIM# 272460; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1249 | NOG | Zornitza Stark Phenotypes for gene: NOG were changed from SYMPHALANGISM PROXIMAL SYNDROME; TARSAL-CARPAL COALITION SYNDROME; MULTIPLE SYNOSTOSES SYNDROME TYPE 1; BRACHYDACTYLY TYPE B2; STAPES ANKYLOSIS WITH BROAD THUMB AND TOES to Brachydactyly, type B2 (MIM#611377); Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1240 | NOG | Daniel Flanagan reviewed gene: NOG: Rating: AMBER; Mode of pathogenicity: None; Publications: 11846737, 18440889, 12089654, 10080184, 15066478, 22088931, 17381491; Phenotypes: Brachydactyly, type B2 (MIM#611377), Multiple synostoses syndrome 1 (MIM#186500), Stapes ankylosis with broad thumbs and toes (MIM#184460), Symphalangism, proximal, 1A (MIM#185800), Tarsal-carpal coalition syndrome (MIM#186570); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.861 | DDX11 | Zornitza Stark Phenotypes for gene: DDX11 were changed from WARSAW BREAKAGE SYNDROME to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.472 | MAFB | Zornitza Stark Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to Multicentric carpotarsal osteolysis syndrome (MIM#166300) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.448 | MAFB | Daniel Flanagan reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 23956186, 30208859; Phenotypes: Multicentric carpotarsal osteolysis syndrome (MIM#166300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.180 | ARSA | Zornitza Stark Marked gene: ARSA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.180 | ARSA | Zornitza Stark Gene: arsa has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.180 | ARSA | Zornitza Stark Phenotypes for gene: ARSA were changed from ARYLSULFATASE A DEFICIENCY to Metachromatic leukodystrophy, MIM# 250100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.178 | ARSA | Zornitza Stark Classified gene: ARSA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.178 | ARSA | Zornitza Stark Gene: arsa has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.177 | ARSA | Zornitza Stark reviewed gene: ARSA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NOG |
Zornitza Stark gene: NOG was added gene: NOG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOG were set to SYMPHALANGISM PROXIMAL SYNDROME; TARSAL-CARPAL COALITION SYNDROME; MULTIPLE SYNOSTOSES SYNDROME TYPE 1; BRACHYDACTYLY TYPE B2; STAPES ANKYLOSIS WITH BROAD THUMB AND TOES |
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| Fetal anomalies v0.0 | MAFB |
Zornitza Stark gene: MAFB was added gene: MAFB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAFB were set to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects |
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| Fetal anomalies v0.0 | FLNB |
Zornitza Stark gene: FLNB was added gene: FLNB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FLNB were set to BOOMERANG DYSPLASIA; SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; ATELOSTEOGENESIS TYPE 3; AUTOSOMAL DOMINANT LARSEN SYNDROME; ATELOSTEOGENESIS TYPE 1 |
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| Fetal anomalies v0.0 | DDX11 |
Zornitza Stark gene: DDX11 was added gene: DDX11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDX11 were set to WARSAW BREAKAGE SYNDROME |
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| Fetal anomalies v0.0 | ARSA |
Zornitza Stark gene: ARSA was added gene: ARSA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to ARYLSULFATASE A DEFICIENCY |
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