PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
492 actions
Fetal anomalies v0.0 KMT2A Zornitza Stark gene: KMT2A was added
gene: KMT2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome, OMIM:605130
Fetal anomalies v0.0 KLHL41 Zornitza Stark gene: KLHL41 was added
gene: KLHL41 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL41 were set to Nemaline myopathy 615731
Fetal anomalies v0.0 KLHL40 Zornitza Stark gene: KLHL40 was added
gene: KLHL40 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL40 were set to NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE
Fetal anomalies v0.0 KLF1 Zornitza Stark gene: KLF1 was added
gene: KLF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KLF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KLF1 were set to 28361594; 25724378
Phenotypes for gene: KLF1 were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; Hydrops Fetalis
Mode of pathogenicity for gene: KLF1 was set to Other
Fetal anomalies v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION; ACROCALLOSAL SYNDROME
Fetal anomalies v0.0 KIF22 Zornitza Stark gene: KIF22 was added
gene: KIF22 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF22 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
Fetal anomalies v0.0 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1BP were set to GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
Fetal anomalies v0.0 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to NESCAV SYNDROME, 614255; NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213
Fetal anomalies v0.0 KIF11 Zornitza Stark gene: KIF11 was added
gene: KIF11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF11 were set to AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY
Fetal anomalies v0.0 KIAA1109 Zornitza Stark gene: KIAA1109 was added
gene: KIAA1109 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1109 were set to 28749478; 30485398; 29290337
Phenotypes for gene: KIAA1109 were set to Brain atrophy, Dandy Walker and Contractures; Alkuraya-Kucinskas syndrome, 617822
Fetal anomalies v0.0 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0586 were set to JOUBERT SYNDROME
Fetal anomalies v0.0 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: KDM6A were set to KABUKI SYNDROME 2
Fetal anomalies v0.0 KDM5C Zornitza Stark gene: KDM5C was added
gene: KDM5C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM5C were set to MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED
Fetal anomalies v0.0 KCTD1 Zornitza Stark gene: KCTD1 was added
gene: KCTD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KCTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCTD1 were set to SCALP-EAR-NIPPLE SYNDROME
Fetal anomalies v0.0 KCNJ2 Zornitza Stark gene: KCNJ2 was added
gene: KCNJ2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNJ2 were set to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222
Fetal anomalies v0.0 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to Bartter syndrome 241200
Fetal anomalies v0.0 KAT6B Zornitza Stark gene: KAT6B was added
gene: KAT6B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6B were set to GENITOPATELLAR SYNDROME; BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE
Fetal anomalies v0.0 KAT6A Zornitza Stark gene: KAT6A was added
gene: KAT6A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
Fetal anomalies v0.0 KANSL1 Zornitza Stark gene: KANSL1 was added
gene: KANSL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KANSL1 were set to CHROMOSOME 17Q21.31 MICRODELETION SYNDROME
Fetal anomalies v0.0 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: JAG1 were set to ALAGILLE SYNDROME
Fetal anomalies v0.0 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis Bullosa with Pyloric Atresia. 226730
Fetal anomalies v0.0 ITGA6 Zornitza Stark gene: ITGA6 was added
gene: ITGA6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA6 were set to Epidermolysis Bullosa with Pyloric Atresia. 226730
Fetal anomalies v0.0 ITGA3 Zornitza Stark gene: ITGA3 was added
gene: ITGA3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA3 were set to INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
Fetal anomalies v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to WALKER WARBURG SYNDROME
Fetal anomalies v0.0 IRF6 Zornitza Stark gene: IRF6 was added
gene: IRF6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IRF6 were set to VAN DER WOUDE SYNDROME; POPLITEAL PTERYGIUM SYNDROME
Fetal anomalies v0.0 IQCB1 Zornitza Stark gene: IQCB1 was added
gene: IQCB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5 609254
Fetal anomalies v0.0 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2 602088
Fetal anomalies v0.0 INTU Zornitza Stark gene: INTU was added
gene: INTU was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTU were set to 28289185; 29451301; 30266093
Phenotypes for gene: INTU were set to ?Short-rib thoracic dysplasia 20 with polydactyly, 617925
Fetal anomalies v0.0 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to DONOHUE SYNDROME 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549; Hyperinsulinemic hypoglycemia, familial, 5 609968; Rabson-Mendenhall syndrome 262190
Fetal anomalies v0.0 INPPL1 Zornitza Stark gene: INPPL1 was added
gene: INPPL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPPL1 were set to OPSISMODYSPLASIA
Fetal anomalies v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS; JOUBERT SYNDROME TYPE 1
Fetal anomalies v0.0 IMPAD1 Zornitza Stark gene: IMPAD1 was added
gene: IMPAD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IMPAD1 were set to CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE
Fetal anomalies v0.0 IL1RAPL1 Zornitza Stark gene: IL1RAPL1 was added
gene: IL1RAPL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL1RAPL1 were set to MENTAL RETARDATION X-LINKED TYPE 21
Fetal anomalies v0.0 IL11RA Zornitza Stark gene: IL11RA was added
gene: IL11RA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL11RA were set to Crouzon-like craniosynostosis; Autosomal Recessive Craniosynostosis; Craniosynostosis and dental anomalies, 614188
Fetal anomalies v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
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)
Phenotypes for gene: IKBKG were set to ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA; SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1; ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED; INCONTINENTIA PIGMENTI; IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA
Fetal anomalies v0.0 IHH Zornitza Stark gene: IHH was added
gene: IHH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IHH were set to ACROCAPITOFEMORAL DYSPLASIA; BRACHYDACTYLY, TYPE A1
Fetal anomalies v0.0 IGHMBP2 Zornitza Stark gene: IGHMBP2 was added
gene: IGHMBP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
Fetal anomalies v0.0 IGF2 Zornitza Stark gene: IGF2 was added
gene: IGF2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: IGF2 were set to BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME
Fetal anomalies v0.0 IGF1R Zornitza Stark gene: IGF1R was added
gene: IGF1R was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IGF1R were set to INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
Fetal anomalies v0.0 IGF1 Zornitza Stark gene: IGF1 was added
gene: IGF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1 were set to INSULIN-LIKE GROWTH FACTOR I DEFICIENCY
Fetal anomalies v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to ASPHYXIATING THORACIC DYSTROPHY 2
Fetal anomalies v0.0 IFT43 Zornitza Stark gene: IFT43 was added
gene: IFT43 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT43 were set to CRANIOECTODERMAL DYSPLASIA TYPE 3
Fetal anomalies v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to JEUNE SYNDROME; MAINZER-SALDINO SYNDROME
Fetal anomalies v0.0 IFT140 Zornitza Stark gene: IFT140 was added
gene: IFT140 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to MAINZER-SALDINO SYNDROME
Fetal anomalies v0.0 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to CRANIOECTODERMAL DYSPLASIA
Fetal anomalies v0.0 IFITM5 Zornitza Stark gene: IFITM5 was added
gene: IFITM5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IFITM5 were set to OSTEOGENESIS IMPERFECTA TYPE V
Fetal anomalies v0.0 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFIH1 were set to 25542954
Phenotypes for gene: IFIH1 were set to SINGLETON-MERTEN SYNDROME; Singleton-Merten syndrome 1, 182250; Aicardi-Goutieres syndrome 7, 615846; AICARDI-GOUTIERES SYNDROME 7
Mode of pathogenicity for gene: IFIH1 was set to Other
Fetal anomalies v0.0 IER3IP1 Zornitza Stark gene: IER3IP1 was added
gene: IER3IP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome 614231
Fetal anomalies v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to MUCOPOLYSACCHARIDOSIS TYPE 1H; MUCOPOLYSACCHARIDOSIS TYPE 1H/S; MUCOPOLYSACCHARIDOSIS TYPE 1S
Fetal anomalies v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2
Fetal anomalies v0.0 IARS Zornitza Stark gene: IARS was added
gene: IARS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS were set to 27426735
Phenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
Fetal anomalies v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to HYDROLETHALUS SYNDROME TYPE 1
Fetal anomalies v0.0 HUWE1 Zornitza Stark gene: HUWE1 was added
gene: HUWE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE
Fetal anomalies v0.0 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome, MONDO:0009717; Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140; Schwartz-Jampel syndrome, type 1, OMIM:255800; Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410
Fetal anomalies v0.0 HSPD1 Zornitza Stark gene: HSPD1 was added
gene: HSPD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 4
Fetal anomalies v0.0 HSF4 Zornitza Stark gene: HSF4 was added
gene: HSF4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HSF4 were set to CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE
Fetal anomalies v0.0 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to PERRAULT SYNDROME; D-BIFUNCTIONAL PROTEIN DEFICIENCY
Fetal anomalies v0.0 HSD17B3 Zornitza Stark gene: HSD17B3 was added
gene: HSD17B3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia 264300
Fetal anomalies v0.0 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HRAS were set to 28425981
Phenotypes for gene: HRAS were set to CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES; COSTELLO SYNDROME
Fetal anomalies v0.0 HR Zornitza Stark gene: HR was added
gene: HR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HR were set to ATRICHIA WITH PAPULAR LESIONS; ALOPECIA UNIVERSALIS
Fetal anomalies v0.0 HPSE2 Zornitza Stark gene: HPSE2 was added
gene: HPSE2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPSE2 were set to UROFACIAL SYNDROME
Fetal anomalies v0.0 HOXD13 Zornitza Stark gene: HOXD13 was added
gene: HOXD13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HOXD13 were set to SYNDACTYLY TYPE 5; BRACHYDACTYLY-SYNDACTYLY SYNDROME; SYNPOLYDACTYLY 1; VACTERL ASSOCIATION; BRACHYDACTYLY TYPE D; BRACHYDACTYLY TYPE E
Fetal anomalies v0.0 HOXA13 Zornitza Stark gene: HOXA13 was added
gene: HOXA13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HOXA13 were set to HAND-FOOT-GENITAL SYNDROME
Fetal anomalies v0.0 HOXA1 Zornitza Stark gene: HOXA1 was added
gene: HOXA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXA1 were set to BOSLEY-SALIH-ALORAINY SYNDROME; ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME
Fetal anomalies v0.0 HNRNPK Zornitza Stark gene: HNRNPK was added
gene: HNRNPK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPK were set to 30998304; 26173930; 29904177; 26954065; 28771707
Phenotypes for gene: HNRNPK were set to Au-Kline syndrome, 616580
Fetal anomalies v0.0 HNF4A Zornitza Stark gene: HNF4A was added
gene: HNF4A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNF4A were set to HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1; ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY
Fetal anomalies v0.0 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME
Fetal anomalies v0.0 HIVEP2 Zornitza Stark gene: HIVEP2 was added
gene: HIVEP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HIVEP2 were set to HIVEP2 associated syndromic developmental delay with intellectual disability
Fetal anomalies v0.0 HIBCH Zornitza Stark gene: HIBCH was added
gene: HIBCH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to HIBCH DEFICIENCY
Fetal anomalies v0.0 HES7 Zornitza Stark gene: HES7 was added
gene: HES7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive 613686
Fetal anomalies v0.0 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HDAC8 were set to WILSON-TURNER SYNDROME; CORNELIA DE LANGE-LIKE SYNDROME
Fetal anomalies v0.0 HCFC1 Zornitza Stark gene: HCFC1 was added
gene: HCFC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCFC1 were set to COBALAMIN DISORDER; MENTAL RETARDATION, X-LINKED 3
Fetal anomalies v0.0 HCCS Zornitza Stark gene: HCCS was added
gene: HCCS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HCCS 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: HCCS were set to 30266093
Phenotypes for gene: HCCS were set to MICROPHTHALMIA SYNDROMIC TYPE 7
Fetal anomalies v0.0 HBA2 Zornitza Stark gene: HBA2 was added
gene: HBA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA2 were set to Thalassemia, alpha-, 604131; Fetal hydrops
Fetal anomalies v0.0 HBA1 Zornitza Stark gene: HBA1 was added
gene: HBA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA1 were set to Thalassemia, alpha-, 604131; Fetal hydrops
Fetal anomalies v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.0 HAAO Zornitza Stark gene: HAAO was added
gene: HAAO was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 28792876
Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1 617660
Fetal anomalies v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7
Fetal anomalies v0.0 GUCY2C Zornitza Stark gene: GUCY2C was added
gene: GUCY2C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GUCY2C was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2C were set to MECONIUM ILEUS; FAMILIAL DIARRHEA DIARRHEA 6
Fetal anomalies v0.0 GTPBP3 Zornitza Stark gene: GTPBP3 was added
gene: GTPBP3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTPBP3 were set to MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY
Fetal anomalies v0.0 GTF2H5 Zornitza Stark gene: GTF2H5 was added
gene: GTF2H5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Fetal anomalies v0.0 GRIP1 Zornitza Stark gene: GRIP1 was added
gene: GRIP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRIP1 were set to 22510445
Phenotypes for gene: GRIP1 were set to Fraser syndrome 219000
Fetal anomalies v0.0 GRIN2B Zornitza Stark gene: GRIN2B was added
gene: GRIN2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIN2B were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; AUTISM; EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.0 GRIN1 Zornitza Stark gene: GRIN1 was added
gene: GRIN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIN1 were set to intellectual disability, autosomal dominant 8 MONDO:0013655; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820; neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
Fetal anomalies v0.0 GRHL3 Zornitza Stark gene: GRHL3 was added
gene: GRHL3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GRHL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRHL3 were set to VAN DER WOUDE SYNDROME
Fetal anomalies v0.0 GPSM2 Zornitza Stark gene: GPSM2 was added
gene: GPSM2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPSM2 were set to CHUDLEY-MCCULLOUGH SYNDROME
Fetal anomalies v0.0 GPI Zornitza Stark gene: GPI was added
gene: GPI was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470
Fetal anomalies v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
Fetal anomalies v0.0 GORAB Zornitza Stark gene: GORAB was added
gene: GORAB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum
Fetal anomalies v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to MUCOPOLYSACCHARIDOSIS TYPE 3D
Fetal anomalies v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C
Fetal anomalies v0.0 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A; MUCOLIPIDOSIS TYPE II
Fetal anomalies v0.0 GNPAT Zornitza Stark gene: GNPAT was added
gene: GNPAT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPAT were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2
Fetal anomalies v0.0 GNB1 Zornitza Stark gene: GNB1 was added
gene: GNB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855
Fetal anomalies v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAS were set to ALBRIGHT HEREDITARY OSTEODYSTROPHY; GNAS HYPERFUNCTION; PSEUDOHYPOPARATHYROIDISM TYPE 1B; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA
Fetal anomalies v0.0 GNAO1 Zornitza Stark gene: GNAO1 was added
gene: GNAO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAO1 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.0 GNAI3 Zornitza Stark gene: GNAI3 was added
gene: GNAI3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNAI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAI3 were set to AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.0 GMPPB Zornitza Stark gene: GMPPB was added
gene: GMPPB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPB were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
Fetal anomalies v0.0 GLUL Zornitza Stark gene: GLUL was added
gene: GLUL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLUL were set to CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY
Fetal anomalies v0.0 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM
Fetal anomalies v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI3 were set to GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; PALLISTER-HALL SYNDROME; POSTAXIAL POLYDACTYLY TYPE A; PREAXIAL POLYDACTYLY TYPE IV
Fetal anomalies v0.0 GLI2 Zornitza Stark gene: GLI2 was added
gene: GLI2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI2 were set to GLI2-RELATED HOLOPROSENCEPHALY
Fetal anomalies v0.0 GLE1 Zornitza Stark gene: GLE1 was added
gene: GLE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLE1 were set to ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE
Fetal anomalies v0.0 GLDN Zornitza Stark gene: GLDN was added
gene: GLDN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDN were set to Lethal arthroogryposis
Fetal anomalies v0.0 GLDC Zornitza Stark gene: GLDC was added
gene: GLDC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDC were set to GLDC-RELATED GLYCINE ENCEPHALOPATHY
Fetal anomalies v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to GM1-GANGLIOSIDOSIS TYPE 1; GM1-GANGLIOSIDOSIS TYPE 2; GM1-GANGLIOSIDOSIS TYPE 3; MUCOPOLYSACCHARIDOSIS TYPE 4B
Fetal anomalies v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GLA were set to Fabry disease, 301500
Fetal anomalies v0.0 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GJC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to LYMPHEDEMA, HEREDITARY, IC; SPASTIC PARAPLEGIA, 44; LEUKODYSTROPHY, HYPOMYELINATING, 2
Fetal anomalies v0.0 GJA8 Zornitza Stark gene: GJA8 was added
gene: GJA8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GJA8 were set to CATARACT ZONULAR PULVERULENT TYPE 1; CATARACT-MICROCORNEA SYNDROME
Fetal anomalies v0.0 GJA3 Zornitza Stark gene: GJA3 was added
gene: GJA3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GJA3 were set to CATARACT ZONULAR PULVERULENT CATARACT TYPE 3
Fetal anomalies v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA; HALLERMANN-STREIFF SYNDROME; HYPOPLASTIC LEFT HEART SYNDROME; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA
Fetal anomalies v0.0 GFM1 Zornitza Stark gene: GFM1 was added
gene: GFM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
Fetal anomalies v0.0 GFAP Zornitza Stark gene: GFAP was added
gene: GFAP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GFAP were set to ALEXANDER DISEASE
Fetal anomalies v0.0 GDF6 Zornitza Stark gene: GDF6 was added
gene: GDF6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GDF6 were set to 32737436
Phenotypes for gene: GDF6 were set to KLIPPEL-FEIL SYNDROME TYPE 1; MICROPHTHALMIA ISOLATED TYPE 4; Syndromic CAKUT
Fetal anomalies v0.0 GDF5 Zornitza Stark gene: GDF5 was added
gene: GDF5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GDF5 were set to MULTIPLE SYNOSTOSES SYNDROME TYPE 2; ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE; BRACHYDACTYLY TYPE A1; SYMPHALANGISM PROXIMAL SYNDROME; DU PAN SYNDROME; BRACHYDACTYLY TYPE C; ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE; BRACHYDACTYLY TYPE A2
Fetal anomalies v0.0 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDF1 were set to 17924340; PMID: 20413652; 28991257
Phenotypes for gene: GDF1 were set to Right atrial isomerism (Ivemark); Congenital heart defects, multiple types
Fetal anomalies v0.0 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to GLUTARICACIDEMIA TYPE 1
Fetal anomalies v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 21620786
Phenotypes for gene: GBE1 were set to Fetal akinesia deformation sequence; Glycogen storage disease IV, OMIM:232500
Fetal anomalies v0.0 GBA2 Zornitza Stark gene: GBA2 was added
gene: GBA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.
Fetal anomalies v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA were set to 30712880
Phenotypes for gene: GBA were set to GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE
Fetal anomalies v0.0 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA6 were set to ATRIOVENTRICULAR SEPTAL DEFECT 5; PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS; ATRIAL SEPTAL DEFECT 9
Fetal anomalies v0.0 GATA4 Zornitza Stark gene: GATA4 was added
gene: GATA4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA4 were set to ATRIAL SEPTAL DEFECT TYPE 2
Fetal anomalies v0.0 GATA2 Zornitza Stark gene: GATA2 was added
gene: GATA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA2 were set to EMBERGER SYNDROME
Fetal anomalies v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A
Fetal anomalies v0.0 GALK1 Zornitza Stark gene: GALK1 was added
gene: GALK1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALK1 were set to GALACTOSEMIA II
Fetal anomalies v0.0 GALE Zornitza Stark gene: GALE was added
gene: GALE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALE were set to EPIMERASE-DEFICIENCY GALACTOSEMIA
Fetal anomalies v0.0 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease, OMIM:245200
Fetal anomalies v0.0 GAA Zornitza Stark gene: GAA was added
gene: GAA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to GLYCOGEN STORAGE DISEASE TYPE II
Fetal anomalies v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Dursun syndrome; Neutropenia, severe congenital 4, autosomal recessive
Fetal anomalies v0.0 FYCO1 Zornitza Stark gene: FYCO1 was added
gene: FYCO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FYCO1 were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2
Fetal anomalies v0.0 FTL Zornitza Stark gene: FTL was added
gene: FTL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FTL were set to HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
Fetal anomalies v0.0 FRMD4A Zornitza Stark gene: FRMD4A was added
gene: FRMD4A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRMD4A were set to 30266093; 25388005; 30214071
Phenotypes for gene: FRMD4A were set to ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819
Fetal anomalies v0.0 FREM2 Zornitza Stark gene: FREM2 was added
gene: FREM2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to FRASER SYNDROME
Fetal anomalies v0.0 FREM1 Zornitza Stark gene: FREM1 was added
gene: FREM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM1 were set to MANITOBA OCULOTRICHOANAL SYNDROME
Fetal anomalies v0.0 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to FRASER SYNDROME
Fetal anomalies v0.0 FOXRED1 Zornitza Stark gene: FOXRED1 was added
gene: FOXRED1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY
Fetal anomalies v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FOXP3 were set to 28425981
Phenotypes for gene: FOXP3 were set to IPEX SYNDROME
Fetal anomalies v0.0 FOXG1 Zornitza Stark gene: FOXG1 was added
gene: FOXG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037; 27029630
Phenotypes for gene: FOXG1 were set to Rett Syndrome, congenital variant OMIM:613454; Rett syndrome, congenital variant MONDO:0013270
Fetal anomalies v0.0 FOXF1 Zornitza Stark gene: FOXF1 was added
gene: FOXF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXF1 were set to ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
Fetal anomalies v0.0 FOXE3 Zornitza Stark gene: FOXE3 was added
gene: FOXE3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXE3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FOXE3 were set to ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA
Fetal anomalies v0.0 FOXE1 Zornitza Stark gene: FOXE1 was added
gene: FOXE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXE1 were set to BAMFORTH-LAZARUS SYNDROME
Fetal anomalies v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXC2 were set to LYMPHEDEMA-DISTICHIASIS SYNDROME; HEREDITARY LYMPHEDEMA II
Fetal anomalies v0.0 FOXC1 Zornitza Stark gene: FOXC1 was added
gene: FOXC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXC1 were set to 32720677
Phenotypes for gene: FOXC1 were set to AXENFELD-RIEGER SYNDROME TYPE 3; IRIDOGONIODYSGENESIS ANOMALY; PETERS ANOMALY
Fetal anomalies v0.0 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOLR1 were set to NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
Fetal anomalies v0.0 FLVCR2 Zornitza Stark gene: FLVCR2 was added
gene: FLVCR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR2 were set to PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME
Fetal anomalies v0.0 FLT4 Zornitza Stark gene: FLT4 was added
gene: FLT4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FLT4 were set to MILROY DISEASE
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
Fetal anomalies v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FLNA 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: FLNA were set to 30712878; 28425981
Phenotypes for gene: FLNA were set to PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1; EPILEPTIC ENCEPHALOPATHY; FG SYNDROME TYPE 2; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION; MELNICK-NEEDLES SYNDROME; FRONTOMETAPHYSEAL DYSPLASIA; OTOPALATODIGITAL SYNDROME TYPE 2; TERMINAL OSSEOUS DYSPLASIA; OTOPALATODIGITAL SYNDROME TYPE 1
Fetal anomalies v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4; CARDIOMYOPATHY DILATED TYPE 1X; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4
Fetal anomalies v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5
Fetal anomalies v0.0 FKBP14 Zornitza Stark gene: FKBP14 was added
gene: FKBP14 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP14 were set to EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS
Fetal anomalies v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to FUMARASE DEFICIENCY
Fetal anomalies v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR3 were set to CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME; LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; ACHONDROPLASIA; THANATOPHORIC DYSPLASIA TYPE 2; HYPOCHONDROPLASIA; MUENKE SYNDROME; THANATOPHORIC DYSPLASIA TYPE 1; CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
Fetal anomalies v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGFR2 were set to 28425981
Phenotypes for gene: FGFR2 were set to JACKSON-WEISS SYNDROME; FAMILIAL SCAPHOCEPHALY SYNDROME; CROUZON SYNDROME; LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; BEARE-STEVENSON CUTIS GYRATA SYNDROME; ACROCEPHALOSYNDACTYLY TYPE V; APERT SYNDROME; ANTLEY-BIXLER SYNDROME
Fetal anomalies v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR1 were set to Hartsfield syndrome; Encephalocraniocutaneous lipomatosis; OSTEOGLOPHONIC DYSPLASIA; KALLMANN SYNDROME TYPE 2; PFEIFFER SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.0 FGF8 Zornitza Stark gene: FGF8 was added
gene: FGF8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGF8 were set to 20463092; 18596921; 24280688
Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia 612702
Fetal anomalies v0.0 FGF3 Zornitza Stark gene: FGF3 was added
gene: FGF3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGF3 were set to DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA
Fetal anomalies v0.0 FGF10 Zornitza Stark gene: FGF10 was added
gene: FGF10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF10 were set to LADD SYNDROME
Fetal anomalies v0.0 FGD1 Zornitza Stark gene: FGD1 was added
gene: FGD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME
Fetal anomalies v0.0 FBXL4 Zornitza Stark gene: FBXL4 was added
gene: FBXL4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXL4 were set to FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE
Fetal anomalies v0.0 FBN2 Zornitza Stark gene: FBN2 was added
gene: FBN2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBN2 were set to 25558065; 7493032; 28383543; 33571691
Phenotypes for gene: FBN2 were set to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363
Fetal anomalies v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to 30266093
Phenotypes for gene: FBN1 were set to MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; MARFAN SYNDROME; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Fetal anomalies v0.0 FBLN5 Zornitza Stark gene: FBLN5 was added
gene: FBLN5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBLN5 were set to Cutis laxa 219100; Cutis laxa 614434
Fetal anomalies v0.0 FAT4 Zornitza Stark gene: FAT4 was added
gene: FAT4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA
Fetal anomalies v0.0 FAR1 Zornitza Stark gene: FAR1 was added
gene: FAR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAR1 were set to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Fetal anomalies v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to FANCI-RELATED FANCONI ANEMIA; FANCONI ANEMIA
Fetal anomalies v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCG were set to FANCONI ANEMIA, COMPLEMENTATION GROUP G
Fetal anomalies v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCF were set to FANCONI ANEMIA, COMPLEMENTATION GROUP F
Fetal anomalies v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to FANCONI ANEMIA, COMPLEMENTATION GROUP E
Fetal anomalies v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP D2
Fetal anomalies v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCC were set to FANCONI ANEMIA, COMPLEMENTATION GROUP C
Fetal anomalies v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FANCB were set to 28425981
Phenotypes for gene: FANCB were set to FANCB-RELATED FANCONI ANEMIA
Fetal anomalies v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to FANCONI ANEMIA, COMPLEMENTATION GROUP A
Fetal anomalies v0.0 FAM58A Zornitza Stark gene: FAM58A was added
gene: FAM58A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FAM58A were set to STAR SYNDROME
Fetal anomalies v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to RAINE SYNDROME
Fetal anomalies v0.0 FAM20A Zornitza Stark gene: FAM20A was added
gene: FAM20A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20A were set to AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME
Fetal anomalies v0.0 FAM126A Zornitza Stark gene: FAM126A was added
gene: FAM126A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 5
Fetal anomalies v0.0 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FAM111A were set to KENNY-CAFFEY SYNDROME
Fetal anomalies v0.0 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to TYROSINEMIA TYPE 1
Fetal anomalies v0.0 EZH2 Zornitza Stark gene: EZH2 was added
gene: EZH2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EZH2 were set to WEAVER SYNDROME 2
Fetal anomalies v0.0 EYA1 Zornitza Stark gene: EYA1 was added
gene: EYA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EYA1 were set to BRANCHIOOTORENAL SYNDROME TYPE 1
Fetal anomalies v0.0 EXT2 Zornitza Stark gene: EXT2 was added
gene: EXT2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EXT2 were set to EXOSTOSES, MULTIPLE, TYPE 2
Fetal anomalies v0.0 EXT1 Zornitza Stark gene: EXT1 was added
gene: EXT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EXT1 were set to HEREDITARY MULTIPLE EXOSTOSES TYPE 1; TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2
Fetal anomalies v0.0 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1
Fetal anomalies v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to ACROFACIAL DYSOSTOSIS WEYERS TYPE; ELLIS-VAN CREVELD SYNDROME
Fetal anomalies v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to ACROFACIAL DYSOSTOSIS WEYERS TYPE; ELLIS-VAN CREVELD SYNDROME
Fetal anomalies v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to GLUTARIC ACIDURIA TYPE 2C
Fetal anomalies v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to GLUTARIC ACIDURIA TYPE 2B
Fetal anomalies v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to GLUTARIC ACIDURIA TYPE 2A
Fetal anomalies v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to ROBERTS SYNDROME; SC PHOCOMELIA SYNDROME
Fetal anomalies v0.0 ERF Zornitza Stark gene: ERF was added
gene: ERF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ERF were set to Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia; COMPLEX CRANIOSYNOSTOSIS
Fetal anomalies v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to COCKAYNE SYNDROME TYPE A
Fetal anomalies v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to COCKAYNE SYNDROME TYPE B; DE SANCTIS-CACCHIONE SYNDROME; CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1; UV-SENSITIVE SYNDROME
Fetal anomalies v0.0 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC5 were set to 24700531; 32557569; 32052936
Phenotypes for gene: ERCC5 were set to Cerebrooculofacioskeletal syndrome 3, OMIM:616570; Cerebrooculofacioskeletal syndrome 3, MONDO:0014696
Fetal anomalies v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to PRIMORDIAL DWARFISM; Xeroderma pigmentosum, group F, 278760; XERODERMA PIGMENTOSUM, GROUP F; XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q
Fetal anomalies v0.0 ERCC3 Zornitza Stark gene: ERCC3 was added
gene: ERCC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC3 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B; TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Fetal anomalies v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D; TRICHOTHIODYSTROPHY PHOTOSENSITIVE; CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2
Fetal anomalies v0.0 ERCC1 Zornitza Stark gene: ERCC1 was added
gene: ERCC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC1 were set to FANCONI ANEMIA; CEREBROOCULOFACIOSKELETAL SYNDROME 4
Fetal anomalies v0.0 EPHB4 Zornitza Stark gene: EPHB4 was added
gene: EPHB4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EPHB4 were set to 27400125
Phenotypes for gene: EPHB4 were set to hydrops fetalis gene
Fetal anomalies v0.0 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPG5 were set to IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Fetal anomalies v0.0 EP300 Zornitza Stark gene: EP300 was added
gene: EP300 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EP300 were set to RUBINSTEIN-TAYBI SYNDROME TYPE 2
Fetal anomalies v0.0 EOGT Zornitza Stark gene: EOGT was added
gene: EOGT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EOGT were set to ADAMS OLIVER SYNDROME
Fetal anomalies v0.0 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EMD were set to 26247046
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Fetal anomalies v0.0 ELOVL4 Zornitza Stark gene: ELOVL4 was added
gene: ELOVL4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELOVL4 were set to ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
Fetal anomalies v0.0 ELN Zornitza Stark gene: ELN was added
gene: ELN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELN were set to ELN-RELATED CUTIS LAXA; SUPRAVALVAR AORTIC STENOSIS
Fetal anomalies v0.0 ELAC2 Zornitza Stark gene: ELAC2 was added
gene: ELAC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELAC2 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY
Fetal anomalies v0.0 EIF4A3 Zornitza Stark gene: EIF4A3 was added
gene: EIF4A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EIF4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF4A3 were set to RICHIERI-COSTA-PEREIRA SYNDROME
Fetal anomalies v0.0 EIF2B3 Zornitza Stark gene: EIF2B3 was added
gene: EIF2B3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B3 were set to 28597716
Phenotypes for gene: EIF2B3 were set to vanishing white matter disease 603896
Fetal anomalies v0.0 EIF2B2 Zornitza Stark gene: EIF2B2 was added
gene: EIF2B2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B2 were set to 30266093; 28597716
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896
Fetal anomalies v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to WOLCOTT-RALLISON SYNDROME
Fetal anomalies v0.0 EHMT1 Zornitza Stark gene: EHMT1 was added
gene: EHMT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EHMT1 were set to 9Q SUBTELOMERIC DELETION SYNDROME
Fetal anomalies v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EFTUD2 were set to MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY
Fetal anomalies v0.0 EFNB1 Zornitza Stark gene: EFNB1 was added
gene: EFNB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EFNB1 were set to CRANIOFRONTONASAL SYNDROME
Fetal anomalies v0.0 EDNRB Zornitza Stark gene: EDNRB was added
gene: EDNRB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EDNRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EDNRB were set to ABCD SYNDROME
Fetal anomalies v0.0 EDNRA Zornitza Stark gene: EDNRA was added
gene: EDNRA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EDNRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EDNRA were set to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
Fetal anomalies v0.0 EDA Zornitza Stark gene: EDA was added
gene: EDA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to ECTODERMAL DYSPLASIA TYPE 1; TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1
Fetal anomalies v0.0 ECEL1 Zornitza Stark gene: ECEL1 was added
gene: ECEL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECEL1 were set to DISTAL ARTHROGRYPOSIS TYPE 5D
Fetal anomalies v0.0 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EBP were set to CHONDRODYSPLASIA PUNCTATA 2, X-LINKED
Fetal anomalies v0.0 EBF3 Zornitza Stark gene: EBF3 was added
gene: EBF3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EBF3 were set to hypotonia, ataxia, and delayed development syndrome MONDO:0015021; Hypotonia, ataxia, and delayed development syndrome OMIM:617330
Fetal anomalies v0.0 DYRK1A Zornitza Stark gene: DYRK1A was added
gene: DYRK1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYRK1A were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Fetal anomalies v0.0 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2H1 were set to ASPHYXIATING THORACIC DYSTROPHY TYPE 3; SHORT RIB-POLYDACTYLY SYNDROME TYPE 3
Fetal anomalies v0.0 DYNC1H1 Zornitza Stark gene: DYNC1H1 was added
gene: DYNC1H1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYNC1H1 were set to SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD; SEVERE ID WITH NEURONAL MIGRATION DISORDER
Fetal anomalies v0.0 DYM Zornitza Stark gene: DYM was added
gene: DYM was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYM were set to SMITH-MCCORT DYSPLASIA; DYGGVE-MELCHIOR-CLAUSEN SYNDROME
Fetal anomalies v0.0 DVL3 Zornitza Stark gene: DVL3 was added
gene: DVL3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DVL3 were set to AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Fetal anomalies v0.0 DVL1 Zornitza Stark gene: DVL1 was added
gene: DVL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DVL1 were set to AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Fetal anomalies v0.0 DSTYK Zornitza Stark gene: DSTYK was added
gene: DSTYK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DSTYK were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
Fetal anomalies v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSP were set to 30993396
Phenotypes for gene: DSP were set to Arrhythmogenic right ventricular dysplasia 8 607450; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821; Skin fragility-woolly hair syndrome 607655; Epidermolysis bullosa, lethal acantholytic 609638; Cardiomyopathy, dilated, with woolly hair and keratoderma 605676; Keratosis palmoplantaris striata II, 612908
Fetal anomalies v0.0 DPM1 Zornitza Stark gene: DPM1 was added
gene: DPM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPAGT1 were set to MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; DPAGT1-CDG
Fetal anomalies v0.0 DOLK Zornitza Stark gene: DOLK was added
gene: DOLK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 28816422
Phenotypes for gene: DOLK were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Mode of pathogenicity for gene: DOLK was set to Other
Fetal anomalies v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOK7 were set to 30266093
Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300; ?Fetal akinesia deformation sequence 3, 618389
Fetal anomalies v0.0 DOCK6 Zornitza Stark gene: DOCK6 was added
gene: DOCK6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to ADAMS-OLIVER SYNDROME 2
Fetal anomalies v0.0 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNMT3B were set to IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
Fetal anomalies v0.0 DNMT3A Zornitza Stark gene: DNMT3A was added
gene: DNMT3A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNMT3A were set to OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY
Fetal anomalies v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia 244400
Fetal anomalies v0.0 DNAH9 Zornitza Stark gene: DNAH9 was added
gene: DNAH9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH9 were set to 30471717; 30471718
Phenotypes for gene: DNAH9 were set to Motile Cilia Defects and Situs Inversus
Fetal anomalies v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to CILIARY DYSKINESIA, PRIMARY, 3; Primary ciliary dyskinesia 608644; heterotaxy
Fetal anomalies v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia 611884
Fetal anomalies v0.0 DNAAF4 Zornitza Stark gene: DNAAF4 was added
gene: DNAAF4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF4 were set to PRIMARY CILIARY DYSPLASIA
Fetal anomalies v0.0 DNAAF3 Zornitza Stark gene: DNAAF3 was added
gene: DNAAF3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF3 were set to PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763
Fetal anomalies v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia 613193
Fetal anomalies v0.0 DMPK Zornitza Stark gene: DMPK was added
gene: DMPK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DMPK were set to DYSTROPHIA MYOTONICA TYPE 1
Fetal anomalies v0.0 DLL4 Zornitza Stark gene: DLL4 was added
gene: DLL4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DLL4 were set to ADAMS-OLIVER SYNDROME 6
Fetal anomalies v0.0 DLL3 Zornitza Stark gene: DLL3 was added
gene: DLL3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLL3 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 1
Fetal anomalies v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to DKC1-RELATED DYSKERATOSIS CONGENITA; DYSKERATOSIS CONGENITA, X-LINKED
Fetal anomalies v0.0 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to PERLMAN SYNDROME
Fetal anomalies v0.0 DHODH Zornitza Stark gene: DHODH was added
gene: DHODH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHODH were set to POSTAXIAL ACROFACIAL DYSOSTOSIS
Fetal anomalies v0.0 DHFR Zornitza Stark gene: DHFR was added
gene: DHFR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHFR were set to MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
Fetal anomalies v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 31840946
Phenotypes for gene: DHCR7 were set to SMITH-LEMLI-OPITZ SYNDROME
Fetal anomalies v0.0 DHCR24 Zornitza Stark gene: DHCR24 was added
gene: DHCR24 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to DESMOSTEROLOSIS
Fetal anomalies v0.0 DDX3X Zornitza Stark gene: DDX3X was added
gene: DDX3X was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DDX3X 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: DDX3X were set to 30266093; 26235985; 25533962
Phenotypes for gene: DDX3X were set to Intellectual disability; INTELLECTUAL DIABILITY; Mental retardation, X-linked 102, 300958
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
Fetal anomalies v0.0 DDR2 Zornitza Stark gene: DDR2 was added
gene: DDR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDR2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE
Fetal anomalies v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: DCX were set to LISSENCEPHALY X-LINKED TYPE 1; SUBCORTICAL BAND HETEROTOPIA X-LINKED
Fetal anomalies v0.0 DCHS1 Zornitza Stark gene: DCHS1 was added
gene: DCHS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCHS1 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA
Fetal anomalies v0.0 DARS Zornitza Stark gene: DARS was added
gene: DARS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.
Fetal anomalies v0.0 DAG1 Zornitza Stark gene: DAG1 was added
gene: DAG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DAG1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7
Fetal anomalies v0.0 CYP2U1 Zornitza Stark gene: CYP2U1 was added
gene: CYP2U1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to HEREDITARY SPASTIC PARAPLEGIA
Fetal anomalies v0.0 CYP21A2 Zornitza Stark gene: CYP21A2 was added
gene: CYP21A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Fetal anomalies v0.0 CYP1B1 Zornitza Stark gene: CYP1B1 was added
gene: CYP1B1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP1B1 were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A
Fetal anomalies v0.0 CYP17A1 Zornitza Stark gene: CYP17A1 was added
gene: CYP17A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency; 17,20-lyase deficiency, isolated
Fetal anomalies v0.0 CYP11B1 Zornitza Stark gene: CYP11B1 was added
gene: CYP11B1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CYP11B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CYP11B1 were set to Aldosteronism, glucocorticoid-remediable 103900; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010
Fetal anomalies v0.0 CYP11A1 Zornitza Stark gene: CYP11A1 was added
gene: CYP11A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11A1 were set to 28425981
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743
Fetal anomalies v0.0 CWC27 Zornitza Stark gene: CWC27 was added
gene: CWC27 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWC27 were set to 28285769
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa, skeletal anomalies and intellectual disability
Fetal anomalies v0.0 CUL7 Zornitza Stark gene: CUL7 was added
gene: CUL7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3-M SYNDROME 1
Fetal anomalies v0.0 CUL4B Zornitza Stark gene: CUL4B was added
gene: CUL4B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CUL4B were set to MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE
Fetal anomalies v0.0 CTSK Zornitza Stark gene: CTSK was added
gene: CTSK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSK were set to PYCNODYSOSTOSIS
Fetal anomalies v0.0 CTSD Zornitza Stark gene: CTSD was added
gene: CTSD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 10
Fetal anomalies v0.0 CTSA Zornitza Stark gene: CTSA was added
gene: CTSA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSA were set to 7759227
Phenotypes for gene: CTSA were set to GALACTOSIALIDOSIS
Fetal anomalies v0.0 CTNNB1 Zornitza Stark gene: CTNNB1 was added
gene: CTNNB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTNNB1 were set to 27915094
Phenotypes for gene: CTNNB1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
Fetal anomalies v0.0 CTCF Zornitza Stark gene: CTCF was added
gene: CTCF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTCF were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
Fetal anomalies v0.0 CSPP1 Zornitza Stark gene: CSPP1 was added
gene: CSPP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSPP1 were set to JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY
Fetal anomalies v0.0 CSNK2A1 Zornitza Stark gene: CSNK2A1 was added
gene: CSNK2A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CSNK2A1 were set to CSNK2A1 syndrome; Okur-Chung neurodevelopmental syndrome, 617062
Fetal anomalies v0.0 CRYGD Zornitza Stark gene: CRYGD was added
gene: CRYGD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYGD were set to CATARACT AUTOSOMAL DOMINANT; CATARACT CONGENITAL CERULEAN TYPE 3
Fetal anomalies v0.0 CRYGC Zornitza Stark gene: CRYGC was added
gene: CRYGC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYGC were set to CATARACT AUTOSOMAL DOMINANT
Fetal anomalies v0.0 CRYBB3 Zornitza Stark gene: CRYBB3 was added
gene: CRYBB3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRYBB3 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2
Fetal anomalies v0.0 CRYBB2 Zornitza Stark gene: CRYBB2 was added
gene: CRYBB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBB2 were set to CATARACT, COPPOCK-LIKE; CATARACT, CONGENITAL, CERULEAN TYPE, 2
Fetal anomalies v0.0 CRYBB1 Zornitza Stark gene: CRYBB1 was added
gene: CRYBB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYBB1 were set to CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT 17, MULTIPLE TYPES; CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3
Fetal anomalies v0.0 CRYBA4 Zornitza Stark gene: CRYBA4 was added
gene: CRYBA4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBA4 were set to CATARACT ZONULAR TYPE 2
Fetal anomalies v0.0 CRYBA1 Zornitza Stark gene: CRYBA1 was added
gene: CRYBA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBA1 were set to CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES
Fetal anomalies v0.0 CRYAA Zornitza Stark gene: CRYAA was added
gene: CRYAA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYAA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYAA were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1; CATARACT, NUCLEAR
Fetal anomalies v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII 610682
Fetal anomalies v0.0 CRLF1 Zornitza Stark gene: CRLF1 was added
gene: CRLF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRLF1 were set to Cold-induced sweating syndrome 1 272430
Fetal anomalies v0.0 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CREBBP were set to RUBINSTEIN-TAYBI SYNDROME TYPE 1; CREBBP intellectual disability without typical RTS features
Fetal anomalies v0.0 CRB2 Zornitza Stark gene: CRB2 was added
gene: CRB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB2 were set to VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
Fetal anomalies v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to Myopathy due to CPT II deficiency 255110; CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649
Fetal anomalies v0.0 COX7B Zornitza Stark gene: COX7B was added
gene: COX7B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: COX7B were set to MICROPHTHALMIA WITH LINEAR SKIN LESIONS
Fetal anomalies v0.0 COQ9 Zornitza Stark gene: COQ9 was added
gene: COQ9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ9 were set to 30712880
Phenotypes for gene: COQ9 were set to COENZYME Q10 DEFICIENCY
Fetal anomalies v0.0 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ4 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 7
Fetal anomalies v0.0 COLEC11 Zornitza Stark gene: COLEC11 was added
gene: COLEC11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLEC11 were set to 3MC SYNDROME 2
Fetal anomalies v0.0 COL9A2 Zornitza Stark gene: COL9A2 was added
gene: COL9A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL9A2 were set to STICKLER SYNDROME, TYPE V; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2
Fetal anomalies v0.0 COL9A1 Zornitza Stark gene: COL9A1 was added
gene: COL9A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL9A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL9A1 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6; STICKLER SYNDROME TYPE 4
Fetal anomalies v0.0 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to DYSTONIA 27; ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1
Fetal anomalies v0.0 COL6A2 Zornitza Stark gene: COL6A2 was added
gene: COL6A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy 1 254090; Bethlem myopathy 1 158810
Fetal anomalies v0.0 COL6A1 Zornitza Stark gene: COL6A1 was added
gene: COL6A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL6A1 were set to COL6A1 associated myopathy
Fetal anomalies v0.0 COL4A3BP Zornitza Stark gene: COL4A3BP was added
gene: COL4A3BP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL4A3BP were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 COL4A2 Zornitza Stark gene: COL4A2 was added
gene: COL4A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL4A2 were set to 32732225
Phenotypes for gene: COL4A2 were set to PORENCEPHALY 2
Fetal anomalies v0.0 COL4A1 Zornitza Stark gene: COL4A1 was added
gene: COL4A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL4A1 were set to 30266093; 32732225; 30712878
Phenotypes for gene: COL4A1 were set to PORENCEPHALY 1
Fetal anomalies v0.0 COL3A1 Zornitza Stark gene: COL3A1 was added
gene: COL3A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL3A1 were set to 28742248; 24922459; PMID: 28258187; 27168972; 25205403
Phenotypes for gene: COL3A1 were set to HP:0006496; HP:0002126; HP:0001883
Fetal anomalies v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL2A1 were set to KNIEST DYSPLASIA; SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE; STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR; RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; ACHONDROGENESIS TYPE 2; SPONDYLOPERIPHERAL DYSPLASIA
Fetal anomalies v0.0 COL1A2 Zornitza Stark gene: COL1A2 was added
gene: COL1A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL1A2 were set to Osteogenesis imperfecta; Ehlers-Danlos syndrome
Fetal anomalies v0.0 COL1A1 Zornitza Stark gene: COL1A1 was added
gene: COL1A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL1A1 were set to OSTEOGENESIS IMPERFECTA TYPE III; CAFFEY DISEASE; OSTEOGENESIS IMPERFECTA TYPE I; OSTEOGENESIS IMPERFECTA TYPE IIA; EHLERS-DANLOS SYNDROME TYPE VIIA; COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA; EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED
Fetal anomalies v0.0 COL18A1 Zornitza Stark gene: COL18A1 was added
gene: COL18A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL18A1 were set to KNOBLOCH SYNDROME TYPE I
Fetal anomalies v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL11A2 were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 13; AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; WEISSENBACHER-ZWEYMUELLER SYNDROME; STICKLER SYNDROME TYPE 3; DEAFNESS AUTOSOMAL RECESSIVE TYPE 53
Fetal anomalies v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL11A1 were set to FIBROCHONDROGENESIS; STICKLER SYNDROME, TYPE II
Fetal anomalies v0.0 COL10A1 Zornitza Stark gene: COL10A1 was added
gene: COL10A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL10A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL10A1 were set to SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA
Fetal anomalies v0.0 COG8 Zornitza Stark gene: COG8 was added
gene: COG8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG8 were set to 30690882
Phenotypes for gene: COG8 were set to COG8-CDG
Fetal anomalies v0.0 COG7 Zornitza Stark gene: COG7 was added
gene: COG7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG7 were set to COG7-CDG
Fetal anomalies v0.0 COG4 Zornitza Stark gene: COG4 was added
gene: COG4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG4 were set to 30290151
Phenotypes for gene: COG4 were set to COG4-CDG; Saul-Wilson syndrome, 618150
Fetal anomalies v0.0 COG1 Zornitza Stark gene: COG1 was added
gene: COG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG1 were set to COG1-CDG
Fetal anomalies v0.0 COASY Zornitza Stark gene: COASY was added
gene: COASY was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COASY were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Fetal anomalies v0.0 CNTNAP2 Zornitza Stark gene: CNTNAP2 was added
gene: CNTNAP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP2 were set to CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME
Fetal anomalies v0.0 CNTNAP1 Zornitza Stark gene: CNTNAP1 was added
gene: CNTNAP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP1 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 7
Fetal anomalies v0.0 CNOT3 Zornitza Stark gene: CNOT3 was added
gene: CNOT3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CNOT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CNOT3 were set to CNOT3 syndrome; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672
Fetal anomalies v0.0 CNOT1 Zornitza Stark gene: CNOT1 was added
gene: CNOT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to 31006513; 31006510
Phenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis, 618500
Mode of pathogenicity for gene: CNOT1 was set to Other - please provide details in the comments
Fetal anomalies v0.0 CLPB Zornitza Stark gene: CLPB was added
gene: CLPB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPB were set to 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA
Fetal anomalies v0.0 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541; Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600; CLCN7-RELATED OSTEOPETROSIS
Fetal anomalies v0.0 CKAP2L Zornitza Stark gene: CKAP2L was added
gene: CKAP2L was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CKAP2L were set to FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Fetal anomalies v0.0 CHUK Zornitza Stark gene: CHUK was added
gene: CHUK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHUK were set to COCOON SYNDROME
Fetal anomalies v0.0 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHSY1 were set to TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME
Fetal anomalies v0.0 CHST3 Zornitza Stark gene: CHST3 was added
gene: CHST3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST3 were set to SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
Fetal anomalies v0.0 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST14 were set to EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE
Fetal anomalies v0.0 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT
Fetal anomalies v0.0 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Several associated, probably most relevant is lethal multiple pterygium syndrome 253290
Fetal anomalies v0.0 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNA1 were set to 18252226; 30177536
Phenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type, 253290; MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE
Fetal anomalies v0.0 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type 602541
Fetal anomalies v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD7 were set to CHARGE SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME TYPE 5
Fetal anomalies v0.0 CHD4 Zornitza Stark gene: CHD4 was added
gene: CHD4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome MONDO:0014946; Sifrim-Hitz-Weiss syndrome OMIM:617159
Fetal anomalies v0.0 CHAT Zornitza Stark gene: CHAT was added
gene: CHAT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic 254210
Fetal anomalies v0.0 CHAMP1 Zornitza Stark gene: CHAMP1 was added
gene: CHAMP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHAMP1 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis 219700
Fetal anomalies v0.0 CFC1 Zornitza Stark gene: CFC1 was added
gene: CFC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CFC1 were set to 11062482; 11799476
Phenotypes for gene: CFC1 were set to Heterotaxy, visceral, 2, autosomal, 605376; CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS
Fetal anomalies v0.0 CFAP53 Zornitza Stark gene: CFAP53 was added
gene: CFAP53 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP53 were set to PMID: 22577226; PMID: 26531781; PMID: 25504577
Phenotypes for gene: CFAP53 were set to inverted spleen; midline liver; Dextrocardia; Heterotaxy, visceral, 6, autosomal recessive; Transposition of the great arteries; gut malrotation
Fetal anomalies v0.0 CEP83 Zornitza Stark gene: CEP83 was added
gene: CEP83 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP83 were set to INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Fetal anomalies v0.0 CEP57 Zornitza Stark gene: CEP57 was added
gene: CEP57 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP57 were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
Fetal anomalies v0.0 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to JOUBERT SYNDROME 15
Fetal anomalies v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to LEBER CONGENITAL AMAUROSIS TYPE 10; BARDET-BIEDL SYNDROME TYPE 14; JOUBERT SYNDROME TYPE 5; SENIOR-LOKEN SYNDROME TYPE 6; MECKEL SYNDROME TYPE 4
Fetal anomalies v0.0 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP164 were set to Nephronophthisis 15 614845
Fetal anomalies v0.0 CEP152 Zornitza Stark gene: CEP152 was added
gene: CEP152 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to SECKEL SYNDROME TYPE 5; MICROCEPHALY PRIMARY TYPE 4
Fetal anomalies v0.0 CEP120 Zornitza Stark gene: CEP120 was added
gene: CEP120 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP120 were set to PMID: 2720821; 25361962
Phenotypes for gene: CEP120 were set to Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly
Fetal anomalies v0.0 CEP104 Zornitza Stark gene: CEP104 was added
gene: CEP104 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP104 were set to Joubert syndrome 25, 616781
Fetal anomalies v0.0 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPJ were set to SECKEL SYNDROME TYPE 4; MICROCEPHALY PRIMARY TYPE 6
Fetal anomalies v0.0 CDT1 Zornitza Stark gene: CDT1 was added
gene: CDT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDT1 were set to MEIER-GORLIN SYNDROME 4
Fetal anomalies v0.0 CDON Zornitza Stark gene: CDON was added
gene: CDON was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDON were set to HOLOPROSENCEPHALY 11
Fetal anomalies v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: CDKN1C were set to IMAGe Syndrome; BECKWITH-WIEDEMANN SYNDROME
Fetal anomalies v0.0 CDKL5 Zornitza Stark gene: CDKL5 was added
gene: CDKL5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CDKL5 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2
Fetal anomalies v0.0 CDK13 Zornitza Stark gene: CDK13 was added
gene: CDK13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDK13 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Fetal anomalies v0.0 CDH3 Zornitza Stark gene: CDH3 was added
gene: CDH3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to EEM SYNDROME; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
Fetal anomalies v0.0 CDH1 Zornitza Stark gene: CDH1 was added
gene: CDH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDH1 were set to Blepharo-cheiro-dontic syndrome
Fetal anomalies v0.0 CDC6 Zornitza Stark gene: CDC6 was added
gene: CDC6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC6 were set to MEIER-GORLIN SYNDROME 5
Fetal anomalies v0.0 CDC45 Zornitza Stark gene: CDC45 was added
gene: CDC45 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC45 were set to Meier-Gorlin Syndrome and Craniosynostosis
Fetal anomalies v0.0 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDAN1 were set to 30786798; 29668551; 29599085
Phenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135; Dyserythropoietic anemia, congenital, type Ia, OMIM:224120
Fetal anomalies v0.0 CCND2 Zornitza Stark gene: CCND2 was added
gene: CCND2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CCND2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
Fetal anomalies v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC40 were set to CILIARY DYSKINESIA, PRIMARY, 15
Fetal anomalies v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC39 were set to CILIARY DYSKINESIA, PRIMARY, 14
Fetal anomalies v0.0 CCDC114 Zornitza Stark gene: CCDC114 was added
gene: CCDC114 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC114 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.0 CCDC103 Zornitza Stark gene: CCDC103 was added
gene: CCDC103 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.0 CCBE1 Zornitza Stark gene: CCBE1 was added
gene: CCBE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME
Fetal anomalies v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to MECKEL SYNDROME, TYPE 6; JOUBERT SYNDROME 9; COACH SYNDROME
Fetal anomalies v0.0 CBL Zornitza Stark gene: CBL was added
gene: CBL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CBL were set to NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Fetal anomalies v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CASK were set to MENTAL RETARDATION X-LINKED CASK-RELATED; MRX WITH/WITHOUT NYSTAGMUS; FG SYNDROME TYPE 4
Fetal anomalies v0.0 CACNA1E Zornitza Stark gene: CACNA1E was added
gene: CACNA1E was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1E were set to 30849329
Phenotypes for gene: CACNA1E were set to Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia; Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias
Mode of pathogenicity for gene: CACNA1E was set to Other - please provide details in the comments
Fetal anomalies v0.0 CACNA1C Zornitza Stark gene: CACNA1C was added
gene: CACNA1C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1C were set to TIMOTHY SYNDROME
Fetal anomalies v0.0 CA8 Zornitza Stark gene: CA8 was added
gene: CA8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA8 were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3
Fetal anomalies v0.0 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA2 were set to OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3
Fetal anomalies v0.0 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8orf37 were set to CONE-ROD DYSTROPHY 16
Fetal anomalies v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to JOUBERT SYNDROME
Fetal anomalies v0.0 C21orf2 Zornitza Stark gene: C21orf2 was added
gene: C21orf2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C21orf2 were set to Axial Spondylometaphyseal Dysplasia
Fetal anomalies v0.0 C12orf65 Zornitza Stark gene: C12orf65 was added
gene: C12orf65 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
Fetal anomalies v0.0 C11orf70 Zornitza Stark gene: C11orf70 was added
gene: C11orf70 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: C11orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C11orf70 were set to 29727692; 29727693
Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.0 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
Fetal anomalies v0.0 BTD Zornitza Stark gene: BTD was added
gene: BTD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BTD were set to BIOTINIDASE DEFICIENCY
Fetal anomalies v0.0 BSND Zornitza Stark gene: BSND was added
gene: BSND was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to BARTTER SYNDROME TYPE 4A
Fetal anomalies v0.0 BRPF1 Zornitza Stark gene: BRPF1 was added
gene: BRPF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BRPF1 were set to BRPF1 associated syndromic intellectual disability with ptosis
Fetal anomalies v0.0 BRIP1 Zornitza Stark gene: BRIP1 was added
gene: BRIP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRIP1 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP J
Fetal anomalies v0.0 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1
Fetal anomalies v0.0 BRAT1 Zornitza Stark gene: BRAT1 was added
gene: BRAT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRAT1 were set to 23035047
Phenotypes for gene: BRAT1 were set to LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME
Fetal anomalies v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BRAF were set to NOONAN SYNDROME TYPE 7; CARDIOFACIOCUTANEOUS SYNDROME; LEOPARD SYNDROME TYPE 3
Fetal anomalies v0.0 BMPR1B Zornitza Stark gene: BMPR1B was added
gene: BMPR1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BMPR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPR1B were set to Acromesomelic dysplasia, Demirhan type, OMIM:609441
Fetal anomalies v0.0 BMPER Zornitza Stark gene: BMPER was added
gene: BMPER was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPER were set to DIAPHANOSPONDYLODYSOSTOSIS
Fetal anomalies v0.0 BMP4 Zornitza Stark gene: BMP4 was added
gene: BMP4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMP4 were set to OROFACIAL CLEFT 11; MICROPHTHALMIA, SYNDROMIC 6
Fetal anomalies v0.0 BMP2 Zornitza Stark gene: BMP2 was added
gene: BMP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMP2 were set to Short stature, palatal anomalies, congenital heart disease, and skeletal malformations; Brachydactyly, type A2 112600
Fetal anomalies v0.0 BMP1 Zornitza Stark gene: BMP1 was added
gene: BMP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BMP1 were set to 28513615
Phenotypes for gene: BMP1 were set to Osteogenesis imperfecta type XIII 614856
Fetal anomalies v0.0 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to BLOOM SYNDROME
Fetal anomalies v0.0 BIN1 Zornitza Stark gene: BIN1 was added
gene: BIN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BIN1 were set to CENTRONUCLEAR MYOPATHY 2
Fetal anomalies v0.0 BICD2 Zornitza Stark gene: BICD2 was added
gene: BICD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BICD2 were set to 27751653; 30054298; 29274205; 28635954
Phenotypes for gene: BICD2 were set to reduced fetal movements; PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); hydrops fetalis; Pterygium
Mode of pathogenicity for gene: BICD2 was set to Other
Fetal anomalies v0.0 BHLHA9 Zornitza Stark gene: BHLHA9 was added
gene: BHLHA9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BHLHA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BHLHA9 were set to ?Camptosynpolydactyly, complex, OMIM:607539; Syndactyly, mesoaxial synostotic, with phalangeal reduction, OMIM:609432; SPLIT HAND AND FOOT MALFORMATION; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE
Fetal anomalies v0.0 BGN Zornitza Stark gene: BGN was added
gene: BGN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BGN were set to 27236923; 27632686
Phenotypes for gene: BGN were set to Meester-Loeys syndrome, 300989; X-Linked Spondyloepimetaphyseal Dysplasia; Severe syndromic form of thoracic aortic aneurysm & dissection; Spondyloepimetaphyseal dysplasia, X-linked, 300106
Fetal anomalies v0.0 BFSP2 Zornitza Stark gene: BFSP2 was added
gene: BFSP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BFSP2 were set to CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED
Fetal anomalies v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 30712880
Phenotypes for gene: BCS1L were set to GRACILE syndrome, 603358; GRACILE SYNDROME
Fetal anomalies v0.0 BCOR Zornitza Stark gene: BCOR was added
gene: BCOR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BCOR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: BCOR were set to MICROPHTHALMIA SYNDROMIC TYPE 2
Fetal anomalies v0.0 BCL11A Zornitza Stark gene: BCL11A was added
gene: BCL11A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BCL11A were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 BCAP31 Zornitza Stark gene: BCAP31 was added
gene: BCAP31 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BCAP31 were set to DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Fetal anomalies v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to BARDET-BIEDL SYNDROME TYPE 9
Fetal anomalies v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to BARDET-BIEDL SYNDROME TYPE 7
Fetal anomalies v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to BARDET-BIEDL SYNDROME TYPE 5
Fetal anomalies v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS4 were set to 28425981
Phenotypes for gene: BBS4 were set to BARDET-BIEDL SYNDROME TYPE 4
Fetal anomalies v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to BARDET-BIEDL SYNDROME TYPE 2
Fetal anomalies v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to BARDET-BIEDL SYNDROME TYPE 12
Fetal anomalies v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to BARDET-BIEDL SYNDROME TYPE 10
Fetal anomalies v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1 MONDO:0008854; Bardet-Biedl syndrome 1 OMIM:209900
Fetal anomalies v0.0 B4GALT7 Zornitza Stark gene: B4GALT7 was added
gene: B4GALT7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALT7 were set to EHLERS-DANLOS SYNDROME PROGEROID TYPE
Fetal anomalies v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 29096039
Phenotypes for gene: B3GLCT were set to PETERS-PLUS SYNDROME 261540
Fetal anomalies v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
Fetal anomalies v0.0 B3GALT6 Zornitza Stark gene: B3GALT6 was added
gene: B3GALT6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALT6 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1; EHLERS-DANLOS SYNDROME
Fetal anomalies v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATRX were set to ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE; MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1
Fetal anomalies v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 23035047
Phenotypes for gene: ATP7A were set to SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; MENKES DISEASE; OCCIPITAL HORN SYNDROME
Fetal anomalies v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome 219200
Fetal anomalies v0.0 ATIC Zornitza Stark gene: ATIC was added
gene: ATIC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATIC were set to AICA-RIBOSURIA
Fetal anomalies v0.0 ATAD3A Zornitza Stark gene: ATAD3A was added
gene: ATAD3A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ATAD3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATAD3A were set to 33845882; 28549128; 28158749; 29053797; 32607449; 32004445; 33575671; 31727539; 28327206; 27640307
Phenotypes for gene: ATAD3A were set to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; Harel-Yoon syndrome, OMIM:617183
Mode of pathogenicity for gene: ATAD3A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.0 ASXL1 Zornitza Stark gene: ASXL1 was added
gene: ASXL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ASXL1 were set to BOHRING-OPITZ SYNDROME
Fetal anomalies v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to CITRULLINEMIA TYPE I
Fetal anomalies v0.0 ASPM Zornitza Stark gene: ASPM was added
gene: ASPM was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPM were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Fetal anomalies v0.0 ASPA Zornitza Stark gene: ASPA was added
gene: ASPA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPA were set to CANAVAN DISEASE
Fetal anomalies v0.0 ASNS Zornitza Stark gene: ASNS was added
gene: ASNS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency 615574
Fetal anomalies v0.0 ASCC1 Zornitza Stark gene: ASCC1 was added
gene: ASCC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC1 were set to 28749478; 26924529; 30327447
Phenotypes for gene: ASCC1 were set to spinal muscular atrophy; hypotonia; contractures; fetal akinesia; arthrogryposis
Fetal anomalies v0.0 ASAH1 Zornitza Stark gene: ASAH1 was added
gene: ASAH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY; FARBER LIPOGRANULOMATOSIS
Fetal anomalies v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARX were set to AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1; PARTINGTON SYNDROME; MENTAL RETARDATION X-LINKED ARX-RELATED; LISSENCEPHALY X-LINKED TYPE 2
Fetal anomalies v0.0 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Fetal anomalies v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6
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
Fetal anomalies v0.0 ARMC9 Zornitza Stark gene: ARMC9 was added
gene: ARMC9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30
Fetal anomalies v0.0 ARMC4 Zornitza Stark gene: ARMC4 was added
gene: ARMC4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC4 were set to CILIARY DYSKINESIA, PRIMARY, 23
Fetal anomalies v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to RETINITIS PIGMENTOSA TYPE 55; BARDET-BIEDL SYNDROME TYPE 3
Fetal anomalies v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL13B were set to 25138100; 18674751; 29255182
Phenotypes for gene: ARL13B were set to Joubert syndrome 8, 612291
Fetal anomalies v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARID1B were set to COFFIN SIRIS SYNDROME; MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
Fetal anomalies v0.0 ARID1A Zornitza Stark gene: ARID1A was added
gene: ARID1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARID1A were set to COFFIN-SIRIS SYNDROME
Fetal anomalies v0.0 ARHGAP31 Zornitza Stark gene: ARHGAP31 was added
gene: ARHGAP31 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARHGAP31 were set to ADAMS-OLIVER SYNDROME 1
Fetal anomalies v0.0 ARCN1 Zornitza Stark gene: ARCN1 was added
gene: ARCN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARCN1 were set to 27476655
Phenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164; Microcephalic dwarfism
Fetal anomalies v0.0 AR Zornitza Stark gene: AR was added
gene: AR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AR were set to SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME
Fetal anomalies v0.0 AP4E1 Zornitza Stark gene: AP4E1 was added
gene: AP4E1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4E1 were set to Hereditary spastic paraplegia 51, MONDO:0013401; Spastic paraplegia 51, autosomal recessive, OMIM:613744
Fetal anomalies v0.0 AP1S2 Zornitza Stark gene: AP1S2 was added
gene: AP1S2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AP1S2 were set to Pettigrew syndrome, OMIM:304340
Fetal anomalies v0.0 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR1 were set to GAPO SYNDROME
Fetal anomalies v0.0 ANOS1 Zornitza Stark gene: ANOS1 was added
gene: ANOS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
Fetal anomalies v0.0 ANKRD11 Zornitza Stark gene: ANKRD11 was added
gene: ANKRD11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ANKRD11 were set to KBG SYNDROME
Fetal anomalies v0.0 ANKH Zornitza Stark gene: ANKH was added
gene: ANKH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ANKH were set to CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE; CHONDROCALCINOSIS 2
Fetal anomalies v0.0 ANAPC1 Zornitza Stark gene: ANAPC1 was added
gene: ANAPC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund-Thomson Syndrome Type 1
Fetal anomalies v0.0 AMT Zornitza Stark gene: AMT was added
gene: AMT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMT were set to GLYCINE ENCEPHALOPATHY
Fetal anomalies v0.0 AMPD2 Zornitza Stark gene: AMPD2 was added
gene: AMPD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD2 were set to PONTOCEREBELLAR HYPOPLASIA
Fetal anomalies v0.0 AMER1 Zornitza Stark gene: AMER1 was added
gene: AMER1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AMER1 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: AMER1 were set to 28425981
Phenotypes for gene: AMER1 were set to OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
Fetal anomalies v0.0 ALX4 Zornitza Stark gene: ALX4 was added
gene: ALX4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALX4 were set to FRONTONASAL DYSPLASIA 2; PARIETAL FORAMINA 2
Fetal anomalies v0.0 ALX3 Zornitza Stark gene: ALX3 was added
gene: ALX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALX3 were set to FRONTONASAL DYSPLASIA TYPE 1
Fetal anomalies v0.0 ALX1 Zornitza Stark gene: ALX1 was added
gene: ALX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALX1 were set to FRONTONASAL DYSPLASIA TYPE 3
Fetal anomalies v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to HYPOPHOSPHATASIA
Fetal anomalies v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to ALSTROM SYNDROME
Fetal anomalies v0.0 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG8 were set to ALG8-CDG
Fetal anomalies v0.0 ALG6 Zornitza Stark gene: ALG6 was added
gene: ALG6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG6 were set to ALG6-CDG
Fetal anomalies v0.0 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG3 were set to 16006436
Phenotypes for gene: ALG3 were set to ALG3-CDG
Fetal anomalies v0.0 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG12 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G
Fetal anomalies v0.0 ALG1 Zornitza Stark gene: ALG1 was added
gene: ALG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to ALG1-CDG
Fetal anomalies v0.0 ALDOA Zornitza Stark gene: ALDOA was added
gene: ALDOA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOA were set to GLYCOGEN STORAGE DISEASE XII
Fetal anomalies v0.0 ALDH7A1 Zornitza Stark gene: ALDH7A1 was added
gene: ALDH7A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH7A1 were set to PYRIDOXINE-DEPENDENT EPILEPSY
Fetal anomalies v0.0 ALDH3A2 Zornitza Stark gene: ALDH3A2 was added
gene: ALDH3A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to SJOEGREN-LARSSON SYNDROME
Fetal anomalies v0.0 ALDH1A3 Zornitza Stark gene: ALDH1A3 was added
gene: ALDH1A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH1A3 were set to ANOPHTHALMIA/MICROPHTHALMIA
Fetal anomalies v0.0 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES; CUTIS LAXA, AUTOSOMAL DOMINANT 3
Fetal anomalies v0.0 AKT3 Zornitza Stark gene: AKT3 was added
gene: AKT3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT3 were set to HEMIMEGALENCEPHALY AKT3
Mode of pathogenicity for gene: AKT3 was set to Other
Fetal anomalies v0.0 AKT1 Zornitza Stark gene: AKT1 was added
gene: AKT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AKT1 were set to 33030203
Phenotypes for gene: AKT1 were set to PROTEUS SYNDROME
Fetal anomalies v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to JOUBERT SYNDROME
Fetal anomalies v0.0 AHDC1 Zornitza Stark gene: AHDC1 was added
gene: AHDC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AHDC1 were set to XIA-GIBBS SYNDROME
Fetal anomalies v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3
Fetal anomalies v0.0 AGL Zornitza Stark gene: AGL was added
gene: AGL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGL were set to GLYCOGEN STORAGE DISEASE TYPE III
Fetal anomalies v0.0 AGK Zornitza Stark gene: AGK was added
gene: AGK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to SENGERS SYNDROME
Fetal anomalies v0.0 AFF4 Zornitza Stark gene: AFF4 was added
gene: AFF4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AFF4 were set to CORNELIA DE LANGE-LIKE SYNDROME
Fetal anomalies v0.0 ADSL Zornitza Stark gene: ADSL was added
gene: ADSL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADSL were set to ADENYLOSUCCINASE DEFICIENCY
Fetal anomalies v0.0 ADNP Zornitza Stark gene: ADNP was added
gene: ADNP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ADNP were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28
Fetal anomalies v0.0 ADGRG6 Zornitza Stark gene: ADGRG6 was added
gene: ADGRG6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG6 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 9
Fetal anomalies v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to POLYMICROGYRIA
Fetal anomalies v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
Fetal anomalies v0.0 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1 231050
Fetal anomalies v0.0 ADAMTS17 Zornitza Stark gene: ADAMTS17 was added
gene: ADAMTS17 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS17 were set to 19836009; 22486325; 30712880; 24940034
Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive, 613195
Fetal anomalies v0.0 ADAMTS10 Zornitza Stark gene: ADAMTS10 was added
gene: ADAMTS10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive 277600
Fetal anomalies v0.0 ACY1 Zornitza Stark gene: ACY1 was added
gene: ACY1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACY1 were set to AMINOACYLASE-1 DEFICIENCY
Fetal anomalies v0.0 ACVR2B Zornitza Stark gene: ACVR2B was added
gene: ACVR2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVR2B were set to PMID: 9916847; PMID: 9242489
Phenotypes for gene: ACVR2B were set to Heterotaxy; Dextrocardia; polysplenia; Gut malrotation; Double outlet right ventricle; Transposition of the great arteries; asplenia; right-sided spleen
Fetal anomalies v0.0 ACTG2 Zornitza Stark gene: ACTG2 was added
gene: ACTG2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTG2 were set to 31070878; 25998219; 30712878
Phenotypes for gene: ACTG2 were set to Fetal Megacystis; Visceral myopathy 155310
Mode of pathogenicity for gene: ACTG2 was set to Other
Fetal anomalies v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME
Fetal anomalies v0.0 ACTC1 Zornitza Stark gene: ACTC1 was added
gene: ACTC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTC1 were set to 24461919
Phenotypes for gene: ACTC1 were set to Atrial septal defect 5 612794
Fetal anomalies v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTB were set to ACTB Haploinsufficiency syndtome; BARAITSER-WINTER SYNDROME
Fetal anomalies v0.0 ACTA2 Zornitza Stark gene: ACTA2 was added
gene: ACTA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTA2 were set to AORTIC ANEURYSM, FAMILIAL THORACIC 6; MOYAMOYA DISEASE 5
Fetal anomalies v0.0 ACTA1 Zornitza Stark gene: ACTA1 was added
gene: ACTA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ACTA1 were set to 30266093
Phenotypes for gene: ACTA1 were set to Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
Fetal anomalies v0.0 ACP5 Zornitza Stark gene: ACP5 was added
gene: ACP5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACP5 were set to SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
Fetal anomalies v0.0 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470; ADRENOLEUKODYSTROPHY PSEUDONEONATAL
Fetal anomalies v0.0 ACE Zornitza Stark gene: ACE was added
gene: ACE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACE were set to 30058238
Phenotypes for gene: ACE were set to Renal tubular dysgenesis 267430
Fetal anomalies v0.0 ACAN Zornitza Stark gene: ACAN was added
gene: ACAN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ACAN were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY
Fetal anomalies v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAD9 were set to 26475292
Phenotypes for gene: ACAD9 were set to ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY
Fetal anomalies v0.0 ABHD5 Zornitza Stark gene: ABHD5 was added
gene: ABHD5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD5 were set to CHANARIN-DORFMAN SYNDROME
Fetal anomalies v0.0 ABCC9 Zornitza Stark gene: ABCC9 was added
gene: ABCC9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ABCC9 were set to CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
Fetal anomalies v0.0 ABCC6 Zornitza Stark gene: ABCC6 was added
gene: ABCC6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC6 were set to ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
Fetal anomalies v0.0 ABCA12 Zornitza Stark gene: ABCA12 was added
gene: ABCA12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 242500
Fetal anomalies v0.0 AAAS Zornitza Stark gene: AAAS was added
gene: AAAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to Triple-A syndrome, MONDO:0009279; Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
Fetal anomalies v0.0 Zornitza Stark Added panel Fetal anomalies