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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