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Fetal anomalies v8.26 FTH1 Ida Ertmanska commented on gene: FTH1
Fetal anomalies v8.26 SEC31A Ida Ertmanska commented on gene: SEC31A: This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Fetal anomalies v8.26 GRHL2 Ida Ertmanska commented on gene: GRHL2: This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Fetal anomalies v8.25 DLG3 Louise Carr reviewed gene: DLG3: Rating: RED; Mode of pathogenicity: ; Publications: 38249294, 40983642; Phenotypes: intellectual disability, X-linked 90, MONDO:0010452, Intellectual developmental disorder, X-linked 90, OMIM:300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v8.25 PNPT1 Beth Young reviewed gene: PNPT1: Rating: RED; Mode of pathogenicity: ; Publications: 37861028; Phenotypes: combined oxidative phosphorylation defect type 13, MONDO:0013977, Combined oxidative phosphorylation deficiency 13, OMIM:614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 HEATR3 Vicki Harrison reviewed gene: HEATR3: Rating: AMBER; Mode of pathogenicity: ; Publications: 35213692; Phenotypes: Diamond-Blackfan anemia 21, OMIM:620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 SCN8A Sunayna Best reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: 31026061, 27659738; Phenotypes: developmental and epileptic encephalopathy, 13, MONDO:0013801, Developmental and epileptic encephalopathy 13, OMIM:614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 UNC45A Sarah Graham edited their review of gene: UNC45A: Added comment: Biallelic variants associated with osteootohepatoenteric syndrome - bone fragility, hearing loss, cholestasis, and congenital diarrhea. Generally presents in the neonatal period; reviewed as red in 2025. One new report of compound heterozygous variants in an affected infant where late-pregnancy ultrasound showed polyhydramnios and diffuse intestinal dilation (PMID: 41081434).; Changed rating: AMBER; Changed publications to: 41081434, 29429573; Changed phenotypes to: Osteootohepatoenteric syndrome, MIM#619377, Osteootohepatoenteric syndrome, OMIM:619377
Fetal anomalies v8.25 SMAD6 Beth Young reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: ; Publications: 41139937; Phenotypes: Brain and cardiac abnormalities, syndromic disease, MONDO:0002254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 UNC80 Sunayna Best reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: ; Publications: 40801661, 41458659, 40048676; Phenotypes: hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MONDO:0014777, Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 WDR83 Vicki Harrison reviewed gene: WDR83: Rating: RED; Mode of pathogenicity: ; Publications: 4138179; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 ESRP2 Vicki Harrison reviewed gene: ESRP2: Rating: RED; Mode of pathogenicity: ; Publications: 39179789; Phenotypes: orofacial cleft, MONDO:0000358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 UTRN Tessa Homfray reviewed gene: UTRN: Rating: RED; Mode of pathogenicity: ; Publications: 20583184, 41244983; Phenotypes: arthrogryposis, MONDO:0008779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 CAPN6 Soo-Mi Park reviewed gene: CAPN6: Rating: RED; Mode of pathogenicity: ; Publications: 41683570; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v8.25 TMEM53 Sarah Graham reviewed gene: TMEM53: Rating: RED; Mode of pathogenicity: ; Publications: 33824347, 39300972, 40767825, 40680154, 39084544, 39901041; Phenotypes: craniotubular dysplasia, Ikegawa type, MONDO:0859226, Craniotubular dysplasia, Ikegawa type, OMIM:619727; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 LOXL2 Sarah Graham reviewed gene: LOXL2: Rating: RED; Mode of pathogenicity: ; Publications: 37345575; Phenotypes: cephalocele, MONDO:0017078, Encephalocele; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 KIAA1217 Sarah Graham reviewed gene: KIAA1217: Rating: RED; Mode of pathogenicity: ; Publications: 32369272; Phenotypes: vertebral disorder, MONDO:0045002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v8.25 GH1 Sarah Graham reviewed gene: GH1: Rating: RED; Mode of pathogenicity: ; Publications: 24497717, 41073961; Phenotypes: Growth hormone deficiency, isolated, type II, OMIM:173100, Growth hormone deficiency, isolated, type IB, OMIM:612781, Growth hormone deficiency, isolated, type IA, OMIM:262400; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v8.25 EXOSC10 Sarah Graham reviewed gene: EXOSC10: Rating: RED; Mode of pathogenicity: ; Publications: 41132091; Phenotypes: Microcephaly, MONDO:0001149; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 CIC Sarah Graham reviewed gene: CIC: Rating: RED; Mode of pathogenicity: ; Publications: 28288114, 41836057; Phenotypes: Intellectual developmental disorder, autosomal dominant 45, OMIM:617600, intellectual developmental disorder, autosomal dominant 45, MONDO:0030910; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v8.25 SEC63 Natalie Chandler reviewed gene: SEC63: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: polycystic liver disease 2, MONDO:0014860, Polycystic liver disease 2, OMIM:617004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TUBA4A Natalie Canham reviewed gene: TUBA4A: Rating: RED; Mode of pathogenicity: ; Publications: 40666348, 38413182; Phenotypes: Congenital myopathy 26, MONDO:0979229, Congenital myopathy 26, OMIM:621225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 PPFIA2 Natalie Canham reviewed gene: PPFIA2: Rating: RED; Mode of pathogenicity: ; Publications: 41044885; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 NCKAP1 Natalie Canham reviewed gene: NCKAP1: Rating: RED; Mode of pathogenicity: ; Publications: 41462819; Phenotypes: congenital heart disease, MONDO:0005453, neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 MFN2 Natalie Canham reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: ; Publications: 37804319; Phenotypes: lissencephaly spectrum disorders, MONDO:0018838, antenatal encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 GJA4 Natalie Canham reviewed gene: GJA4: Rating: RED; Mode of pathogenicity: ; Publications: 41416265; Phenotypes: Thickened nuchal skin fold, HP:0000474; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 CUL1 Natalie Canham reviewed gene: CUL1: Rating: RED; Mode of pathogenicity: ; Publications: 41189326; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TRIM28 Louise Carr reviewed gene: TRIM28: Rating: RED; Mode of pathogenicity: ; Publications: 29912901, 30885698, 30694527; Phenotypes: Wilms tumor 7, OMIM:621332, Wilms tumor 7, MONDO:0979876; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 RPL35 Louise Carr reviewed gene: RPL35: Rating: RED; Mode of pathogenicity: ; Publications: 28280134; Phenotypes: Diamond-Blackfan anemia 19. OMIM:618312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 PGBD5 Louise Carr reviewed gene: PGBD5: Rating: RED; Mode of pathogenicity: ; Publications: 41533792; Phenotypes: Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, OMIM:621482, neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MONDO:0980968; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 LGI1 Louise Carr reviewed gene: LGI1: Rating: RED; Mode of pathogenicity: ; Publications: 40455867, 11810107, 41000458; Phenotypes: Developmental and epileptic encephalopathy 121, OMIM:621475, developmental and epileptic encephalopathy 121, MONDO:0980966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 COPZ1 Louise Carr reviewed gene: COPZ1: Rating: RED; Mode of pathogenicity: ; Publications: 39642330; Phenotypes: Neutropenia, severe congenital, 12, autosomal recessive, OMIM:621439, neutropenia, severe congenital, 12, autosomal recessive, MONDO:0980936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 ZFPM1 Esther Kinning reviewed gene: ZFPM1: Rating: RED; Mode of pathogenicity: ; Publications: 41813389; Phenotypes: congenital heart disease, MONDO:0005453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TSR2 Esther Kinning reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: ; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, OMIM:300946, Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MONDO:0010493; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v8.25 RPS15A Esther Kinning reviewed gene: RPS15A: Rating: RED; Mode of pathogenicity: ; Publications: 27909223; Phenotypes: Diamond-Blackfan anemia 20, OMIM:618313; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TTBK1 Beth Young reviewed gene: TTBK1: Rating: RED; Mode of pathogenicity: ; Publications: 41545183; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 RPS27 Beth Young reviewed gene: RPS27: Rating: RED; Mode of pathogenicity: ; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 17, OMIM:617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 KLHL20 Anna de Burca reviewed gene: KLHL20: Rating: RED; Mode of pathogenicity: ; Publications: 36214804, 38513146; Phenotypes: neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MONDO:0980709, Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, OMIM:621390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 ARHGAP35 Anna de Burca reviewed gene: ARHGAP35: Rating: RED; Mode of pathogenicity: ; Publications: 41714291, 36178483; Phenotypes: Acrania-exencephaly-anencephaly sequence, a rare uniformaly lethal and progressive neural defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 FASTKD5 Alice Gardham reviewed gene: FASTKD5: Rating: RED; Mode of pathogenicity: ; Publications: 40499538; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 24, OMIM:621431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 RPL17 Vicki Harrison reviewed gene: RPL17: Rating: AMBER; Mode of pathogenicity: ; Publications: 39088281; Phenotypes: Diamond-Blackfan anemia 22, OMIM:621262; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TBCB Tessa Homfray reviewed gene: TBCB: Rating: AMBER; Mode of pathogenicity: ; Publications: 40856104; Phenotypes: neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia, MONDO:0980706, Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia, OMIM:621382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 SEC23A Tessa Homfray reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: ; Publications: 16980978, 38275611, 16980979, 21039434, 34580982, 26494538, 37828500, 27148587; Phenotypes: Craniolenticulosutural dysplasia, OMIM:607812, craniolenticulosutural dysplasia, MONDO:0011911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 NRIP1 Tessa Homfray reviewed gene: NRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 41868040, 34525250, 28381549; Phenotypes: Congenital anomalies of kidney and urinary tract 3, OMIM:618270, congenital anomalies of kidney and urinary tract 3, MONDO:0032646; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 CDK4 Tessa Homfray reviewed gene: CDK4: Rating: AMBER; Mode of pathogenicity: ; Publications: 40210435; Phenotypes: microcephaly 31, primary, autosomal recessive, MONDO:0980991, Short stature, HP:0004322, Microcephaly 31, primary, autosomal recessive, OMIM:621507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 TAF4 Sunayna Best reviewed gene: TAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: 41454640, 28191890, 35904126, 33875846; Phenotypes: intellectual developmental disorder, autosomal dominant 73, MONDO:0957536, Intellectual developmental disorder, autosomal dominant 73, OMIM:620450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 RAPGEF2 Sunayna Best reviewed gene: RAPGEF2: Rating: AMBER; Mode of pathogenicity: ; Publications: 41556274; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 MOCS3 Sunayna Best reviewed gene: MOCS3: Rating: AMBER; Mode of pathogenicity: ; Publications: 33897766, 39695700, 36296488, 28544736; Phenotypes: Molybdenum cofactor deficiency, type B2, OMIM:621373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 GTF2H4 Sunayna Best reviewed gene: GTF2H4: Rating: AMBER; Mode of pathogenicity: ; Publications: 40924475; Phenotypes: xeroderma pigmentosum, complementation group J, MONDO:0980987, Xeroderma pigmentosum, complementation group J, OMIM:621435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 CCP110 Sunayna Best reviewed gene: CCP110: Rating: AMBER; Mode of pathogenicity: ; Publications: 26965371, 38857829; Phenotypes: ciliopathy, MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 RRP12 Soo-Mi Park reviewed gene: RRP12: Rating: AMBER; Mode of pathogenicity: ; Publications: 42144846, 41059649; Phenotypes: basal ganglia calcification, idiopathic, 11, autosomal recessive, MONDO:0980939, Basal ganglia calcification, idiopathic, 11, autosomal recessive, OMIM:621452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 EIF3A Soo-Mi Park reviewed gene: EIF3A: Rating: AMBER; Mode of pathogenicity: ; Publications: 41033306, 34179316; Phenotypes: syndromic disease, MONDO:0002254, Cardiovascular, craniofacial, and neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TTC1 Sarah Graham reviewed gene: TTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26539891, 40879651; Phenotypes: pontocerebellar hypoplasia, MONDO:0020135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 TSPYL1 Sarah Graham reviewed gene: TSPYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32885560, 15273283, 33075815, 36082874; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome, OMIM:608800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 LOXL3 Sarah Graham reviewed gene: LOXL3: Rating: AMBER; Mode of pathogenicity: ; Publications: 34787502, 30362103, 36610533, 26307084, 41052910, 38957076, 26957899, 25663169; Phenotypes: Stickler syndrome, MONDO:0019354; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 IGFALS Sarah Graham reviewed gene: IGFALS: Rating: AMBER; Mode of pathogenicity: ; Publications: 25352235; Phenotypes: short stature due to primary acid-labile subunit deficiency, MONDO:0014420, Acid-labile subunit, deficiency of, OMIM:615961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 HMGCS1 Sarah Graham reviewed gene: HMGCS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39531736; Phenotypes: congenital myopathy 28 with rigid spine, MONDO:0980756, Congenital myopathy 28 with rigid spine, OMIM:621433, Congenital myopathy 28 with rigid spine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 WNT11 Natalie Chandler reviewed gene: WNT11: Rating: AMBER; Mode of pathogenicity: ; Publications: 34875064, 38275609, 40200693; Phenotypes: osteopetrosis, MONDO:0017198; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 UBR5 Natalie Chandler reviewed gene: UBR5: Rating: AMBER; Mode of pathogenicity: ; Publications: 39721588; Phenotypes: Neurodevelopmental disorder with speech delay and behavioral abnormalities, OMIM:621372; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 RPS29 Natalie Chandler reviewed gene: RPS29: Rating: AMBER; Mode of pathogenicity: ; Publications: 39691264, 24829207; Phenotypes: Diamond-Blackfan anemia 13, MONDO:0014394, Diamond-Blackfan anemia 13, OMIM:615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 NOS3 Natalie Chandler reviewed gene: NOS3: Rating: AMBER; Mode of pathogenicity: ; Publications: 37383439, 36941667; Phenotypes: Moyamoya disease 8, OMIM:621469, Moyamoya disease 8, MONDO:0980949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 NFE2L2 Natalie Chandler reviewed gene: NFE2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29018201; Phenotypes: Immunodeficiency, developmental delay, and hypohomocysteinemia, OMIM:617744, immunodeficiency, developmental delay, and hypohomocysteinemia, MONDO:0060591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 MGRN1 Natalie Chandler reviewed gene: MGRN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 41781207; Phenotypes: visceral heterotaxy, MONDO:0018677; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 ATXN7L3 Natalie Chandler reviewed gene: ATXN7L3: Rating: AMBER; Mode of pathogenicity: ; Publications: 38753057; Phenotypes: Harel-Tora neurodevelopmental syndrome, OMIM:621377, Harel-Tora neurodevelopmental syndrome, MONDO:0980703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 SMARCA1 Natalie Canham reviewed gene: SMARCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 41213919; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v8.25 RPL18 Louise Carr reviewed gene: RPL18: Rating: AMBER; Mode of pathogenicity: ; Publications: 32075953, 28280134; Phenotypes: Diamond-Blackfan anemia 18, OMIM:618310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 OPA1 Louise Carr reviewed gene: OPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26561570, 39233737; Phenotypes: Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type), OMIM:616896, Mitochondrial DNA depletion syndrome 14A (encephalomyopathic type), OMIM:621481; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v8.25 NAA16 Louise Carr reviewed gene: NAA16: Rating: AMBER; Mode of pathogenicity: ; Publications: 28991257, 41148812, 23665959; Phenotypes: congenital heart disease, MONDO:0005453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 MIPEP Louise Carr reviewed gene: MIPEP: Rating: AMBER; Mode of pathogenicity: ; Publications: 27799064, 34620555, 36727025; Phenotypes: lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, MONDO:0014976, Combined oxidative phosphorylation deficiency-31, OMIM:617228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 FGD5 Louise Carr reviewed gene: FGD5: Rating: AMBER; Mode of pathogenicity: ; Publications: 41574350, 41199744, 30232381, 32037394; Phenotypes: Congenital heart disease, tetralogy of Fallout (TOF), peripheral pulmonary artery stenosis (PPS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 FAM50A Louise Carr reviewed gene: FAM50A: Rating: AMBER; Mode of pathogenicity: ; Publications: 32703943; Phenotypes: Armfield type of X-linked syndromic intellectual developmental disorder, OMIM:300261; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v8.25 ARNT2 Louise Carr reviewed gene: ARNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 24022475, 11247670, 41363294; Phenotypes: Webb-Dattani syndrome, OMIM:615926, Webb-Dattani syndrome, MONDO:0014404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 MAP2K4 Esther Kinning reviewed gene: MAP2K4: Rating: AMBER; Mode of pathogenicity: ; Publications: 41480045; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 FHL2 Esther Kinning reviewed gene: FHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 41039806, 36854411, 25358972; Phenotypes: Congential dilated cardiomyopathy, dilated cardiomyopathy, MONDO:0005021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 COX18 Esther Kinning reviewed gene: COX18: Rating: AMBER; Mode of pathogenicity: ; Publications: 37468577; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 25, OMIM:621487, neonatal hypertrophic cardiomyopathy, mitochondrial complex IV deficiency, nuclear-type, MONDO:0033885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 NCAPG2 Beth Young reviewed gene: NCAPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30609410; Phenotypes: Khan-Khan-Katsanis syndrome, MONDO:0032764, Khan-Khan-Katsanis syndrome, OMIM:618460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 FTH1 Beth Young reviewed gene: FTH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 37660254, 41551370; Phenotypes: Neurodegeneration with brain iron accumulation-9, OMIM:620669, neurodegeneration with brain iron accumulation 9, MONDO:0958012; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 ASTN1 Beth Young reviewed gene: ASTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 41544630; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 ZFHX3 Anna de Burca reviewed gene: ZFHX3: Rating: AMBER; Mode of pathogenicity: ; Publications: 38412861, 41198152; Phenotypes: neural tube defect, MONDO:0018075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 SGSM3 Anna de Burca reviewed gene: SGSM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 84, OMIM:620401, intellectual developmental disorder, autosomal recessive 84, MONDO:0980746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 RPL31 Anna de Burca reviewed gene: RPL31: Rating: AMBER; Mode of pathogenicity: ; Publications: 25042156; Phenotypes: Diamond-Blackfan anemia, MONDO:0015253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 PEG10 Anna de Burca reviewed gene: PEG10: Rating: AMBER; Mode of pathogenicity: ; Publications: 41429883; Phenotypes: Silver-Russell syndrome, MONDO:0008394; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Fetal anomalies v8.25 MYMX Anna de Burca reviewed gene: MYMX: Rating: AMBER; Mode of pathogenicity: ; Publications: 39668186; Phenotypes: Carey-Fineman-Ziter syndrome 2, OMIM:619941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 TPM1 Alice Gardham edited their review of gene: TPM1: Added comment: I case of fetal cardiomyopathy in one paper. 2 ith LC non compation and hydrops in another -one with HLH and VSD.; Changed publications to: 40348118, 33553264; Changed phenotypes to: Cardiomyopathy, hypertrophic, 3, OMIM:115196, Left ventricular noncompaction 9, Cardiomyopathy, dilated, 1Y, OMIM:611878, Left ventricular noncompaction 9, OMIM:611878
Fetal anomalies v8.25 SEL1L Alice Gardham reviewed gene: SEL1L: Rating: AMBER; Mode of pathogenicity: ; Publications: 37943617, 37943610; Phenotypes: Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, OMIM:621068, neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, MONDO:0976131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 RPL27 Alice Gardham reviewed gene: RPL27: Rating: AMBER; Mode of pathogenicity: ; Publications: 38988374, 25424902; Phenotypes: Diamond-Blackfan anemia 16, OMIM:617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 CLASP1 Alice Gardham reviewed gene: CLASP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40343077, 39040917; Phenotypes: Lissencephaly, HP:0001339, focal epilepsy, MONDO:0005384; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v8.25 TM2D3 Vicki Harrison reviewed gene: TM2D3: Rating: GREEN; Mode of pathogenicity: ; Publications: 40449487; Phenotypes: Neurocardiorenal malformation syndrome, OMIM:621379, neurocardiorenal malformation syndrome, MONDO:0980704; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 SEC31A Vicki Harrison reviewed gene: SEC31A: Rating: GREEN; Mode of pathogenicity: ; Publications: 40508110, 39725565; Phenotypes: Halperin-Birk syndrome, OMIM:618651, neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MONDO:0032849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 NUBP2 Vicki Harrison reviewed gene: NUBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 39867373; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 CDK9 Vicki Harrison reviewed gene: CDK9: Rating: GREEN; Mode of pathogenicity: ; Publications: 26633546, 40954203, 33640901, 30237576; Phenotypes: CHARGE-like syndrome with retinal dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 NRCAM Sunayna Best reviewed gene: NRCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 35108495; Phenotypes: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 UNC13A Soo-Mi Park reviewed gene: UNC13A: Rating: GREEN; Mode of pathogenicity: ; Publications: 41125872, 36447687, 27648472; Phenotypes: Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455, neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MONDO:0980940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 QSER1 Soo-Mi Park reviewed gene: QSER1: Rating: GREEN; Mode of pathogenicity: ; Publications: 41139957; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 NOTCH3 Soo-Mi Park reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 41196431, 38824264, 25870235, 37688971; Phenotypes: Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, OMIM:621295, cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, MONDO:0979867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 TOPORS Sarah Graham reviewed gene: TOPORS: Rating: GREEN; Mode of pathogenicity: ; Publications: 40358237, 37227088, 34132027; Phenotypes: ciliopathy, MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 TNNC2 Sarah Graham reviewed gene: TNNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40560134, 33755597; Phenotypes: congenital myopathy 15, MONDO:0859335, Congenital myopathy 15, OMIM:620161; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v8.25 FOXD2 Sarah Graham reviewed gene: FOXD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38154558; Phenotypes: congenital anomaly of kidney and urinary tract, MONDO:0019719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 DMRT2 Sarah Graham reviewed gene: DMRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29681102, 41014130, 16387292; Phenotypes: spondylocostal dysostosis 7, autosomal recessive, MONDO:0981023, Spondylocostal dysostosis 7, autosomal recessive, OMIM:621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 ATRIP Sarah Graham reviewed gene: ATRIP: Rating: GREEN; Mode of pathogenicity: ; Publications: 40029331, 35568357, 23144622; Phenotypes: Seckel syndrome, MONDO:0019342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 ZNF292 Natalie Chandler reviewed gene: ZNF292: Rating: GREEN; Mode of pathogenicity: ; Publications: 40777882, 31723249, 41153384; Phenotypes: Intellectual developmental disorder, autosomal dominant 64, OMIM:619188, intellectual developmental disorder, autosomal dominant 64, MONDO:0030934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TMEM161B Natalie Chandler reviewed gene: TMEM161B: Rating: GREEN; Mode of pathogenicity: ; Publications: 36669109, 36669111; Phenotypes: polymicrogyria, MONDO:0000087, Microcephaly, MONDO:0001149; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 SSR4 Natalie Chandler reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: ; Publications: 41441028, 38805916; Phenotypes: SSR4-congenital disorder of glycosylation, MONDO:0010490, Congenital disorder of glycosylation, type Iy, OMIM:300934; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v8.25 SPATA5L1 Natalie Chandler reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37902276, 41375745, 34626583; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616, neurodevelopmental disorder with hearing loss and spasticity, MONDO:0859206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 RPS6KC1 Natalie Chandler reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 41130203; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, OMIM:621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 PAK1 Natalie Chandler reviewed gene: PAK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 41124873, 36905087, 37820543, 31504246; Phenotypes: Intellectual developmental disorder with macrocephaly, seizures, and speech delay, OMIM:618158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 DBR1 Natalie Chandler reviewed gene: DBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40683339, 41366235, 29474921, 37656279; Phenotypes: xerosis and growth failure with immune and pulmonary dysfunction syndrome, MONDO:0957786, Xerosis and growth failure with immune and pulmonary dysfunction syndrome, OMIM:620510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 RPS28 Natalie Canham reviewed gene: RPS28: Rating: GREEN; Mode of pathogenicity: ; Publications: 40135709, 24942156; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, OMIM:606164, Diamond-Blackfan anemia 15 with mandibulofacial dysostosis, MONDO:0011639; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 XRCC2 Louise Carr reviewed gene: XRCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27208205, 42071175, 22232082, 30237576; Phenotypes: Fanconi anemia, complementation group U, OMIM:617247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 SLC1A4 Louise Carr reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25930971, 26138499, 37502193, 29989513, 27193218, 37194416, 31763347, 26041762, 34174466, 35605507; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657, spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, MONDO:0014725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 GRK2 Louise Carr reviewed gene: GRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38647386, 33200460; Phenotypes: Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 NAE1 Esther Kinning reviewed gene: NAE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36608681; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, OMIM:620210, neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MONDO:0859361; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 ARSK Esther Kinning reviewed gene: ARSK: Rating: GREEN; Mode of pathogenicity: ; Publications: 35959767, 34916232, 38292179; Phenotypes: Mucopolysaccharidosis, type X, OMIM:619698, mucopolysaccharidosis, type 10, MONDO:0030524; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 ZNF148 Beth Young reviewed gene: ZNF148: Rating: GREEN; Mode of pathogenicity: ; Publications: 37580113; Phenotypes: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, OMIM:617260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 MED16 Beth Young reviewed gene: MED16: Rating: GREEN; Mode of pathogenicity: ; Publications: 40081376; Phenotypes: Guillouet-Gordon syndrome, MONDO:0979227, Guillouet-Gordon syndrome, OMIM:621220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 CRNKL1 Beth Young reviewed gene: CRNKL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40857589; Phenotypes: Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436, microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MONDO:0980935; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TRA2B Anna de Burca reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ramond-Elliott neurodevelopmental syndrome, MONDO:0980751, Ramond-Elliott neurodevelopmental syndrome, OMIM:621421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 ZFHX4 Alice Gardham reviewed gene: ZFHX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 40367947, 39702590, 40657976; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 PCDHGC4 Alice Gardham reviewed gene: PCDHGC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 34244665; Phenotypes: Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 MYCBP2 Alice Gardham reviewed gene: MYCBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 41543631, 36200388, 41200582; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 KDM2A Alice Gardham reviewed gene: KDM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 41468891; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 ABAT Alice Gardham reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 41573381; Phenotypes: GABA-transaminase deficiency, OMIM:613163; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 SIK3 Sarah Graham reviewed gene: SIK3: Rating: AMBER; Mode of pathogenicity: ; Publications: 30232230, 22318228; Phenotypes: spondyloepimetaphyseal dysplasia, Krakow type, MONDO:0032571, Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 SHANK3 Sarah Graham reviewed gene: SHANK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Phelan-McDermid syndrome, OMIM:606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TBX6 Natalie Chandler reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 31015262; Phenotypes: Spondylocostal dysostosis 5, OMIM:122600, spondylocostal dysostosis 5, MONDO:0007389; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v8.25 EIF3B Sunayna Best reviewed gene: EIF3B: Rating: AMBER; Mode of pathogenicity: ; Publications: 41033306; Phenotypes: syndromic disease, MONDO:0002254, Cardiovascular, craniofacial, and neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 GSPT2 Soo-Mi Park reviewed gene: GSPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 41420488, 28414775; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v8.25 STAT3 Sarah Graham reviewed gene: STAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections, OMIM:147060, Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952, hyper-IgE recurrent infection syndrome 1, autosomal dominant, MONDO:0007818, autoimmune disease, multisystem, infantile-onset, MONDO:0000213; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 UBTF Natalie Chandler reviewed gene: UBTF: Rating: AMBER; Mode of pathogenicity: ; Publications: 41534641; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 GRHL2 Natalie Chandler reviewed gene: GRHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 25152456, 41172132; Phenotypes: Ectodermal dysplasia/short stature syndrome, OMIM:616029, cleft palate, MONDO:0016064; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v8.25 SLC22A5 Esther Kinning reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: 36535739, 33082562; Phenotypes: Carnitine deficiency, systemic primary, OMIM:212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 MSH6 Vicki Harrison reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: 28562508, 24737826, 38912246, 38981890, 32354708, 17993636, 22692065, 30166433, 33247381; Phenotypes: Mismatch repair cancer syndrome 3, OMIM:619097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 RHOA Tessa Homfray reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: ; Publications: 41153384; Phenotypes: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, OMIM:618727; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 MSH2 Tessa Homfray reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28562508, 24737826, 38912246, 38981890, 32354708, 17993636, 22692065, 30166433, 33247381; Phenotypes: Mismatch repair cancer syndrome 2, OMIM:619096; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 EMC1 Tessa Homfray reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36799557, 38161285, 29271071, 32092440, 26942288; Phenotypes: cerebellar atrophy, visual impairment, and psychomotor retardation , MONDO:0014811, Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v8.25 MLH1 Soo-Mi Park reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28562508, 24737826, 38912246, 38981890, 32354708, 17993636, 22692065, 30166433, 33247381; Phenotypes: Mismatch repair cancer syndrome 1, OMIM:276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 WNT4 Sarah Graham reviewed gene: WNT4: Rating: GREEN; Mode of pathogenicity: ; Publications: 40992710, 18179883; Phenotypes: SERKAL syndrome, OMIM:611812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 NID1 Sarah Graham reviewed gene: NID1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30773799, 25558065, 36702440, 12480912, 23674478; Phenotypes: Dandy-Walker malformation with occiptal cephalocele, OMIM:609222, Dandy-Walker syndrome, MONDO:0009072; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v8.25 QARS Natalie Chandler reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 32042906, 41393345; Phenotypes: diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, MONDO:0014335, Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 MVK Louise Carr reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: 16722536, 27012807, 40038796; Phenotypes: Mevalonic aciduria, OMIM:610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 BHLHE22 Louise Carr reviewed gene: BHLHE22: Rating: GREEN; Mode of pathogenicity: ; Publications: 42586785; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v8.25 PMS2 Esther Kinning reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28562508, 24737826, 38912246, 38981890, 32354708, 17993636, 22692065, 30166433, 33247381; Phenotypes: Mismatch repair cancer syndrome 4, OMIM:619101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 FBXW11 Anna de Burca reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: ; Publications: 31402090, 40188065, 40178747; Phenotypes: Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 COL27A1 Anna de Burca reviewed gene: COL27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 41139937; Phenotypes: Steel syndrome, OMIM:615155, Steel syndrome, MONDO:0014061; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.23 STAT3 Ida Ertmanska Added phenotypes Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections, OMIM:147060; Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952; hyper-IgE recurrent infection syndrome 1, autosomal dominant, MONDO:0007818; autoimmune disease, multisystem, infantile-onset, MONDO:0000213 for gene: STAT3
Fetal anomalies v8.23 GRHL2 Ida Ertmanska Source NHS GMS was added to GRHL2.
Mode of inheritance for gene GRHL2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Ectodermal dysplasia/short stature syndrome, OMIM:616029; cleft palate, MONDO:0016064 for gene: GRHL2
Publications for gene: GRHL2 were updated from 25152456; 27612988 to 25152456; 27612988; 41172132
Fetal anomalies v8.23 RHOA Ida Ertmanska Added phenotypes Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, OMIM:618727 for gene: RHOA
Publications for gene: RHOA were updated from to 41153384
Fetal anomalies v8.23 EMC1 Ida Ertmanska Mode of inheritance for gene EMC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes cerebellar atrophy, visual impairment, and psychomotor retardation , MONDO:0014811; Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 for gene: EMC1
Publications for gene: EMC1 were updated from 29271071; 26942288 to 36799557; 38161285; 29271071; 32092440; 26942288
Fetal anomalies v8.23 WNT4 Ida Ertmanska Source NHS GMS was added to WNT4.
Mode of inheritance for gene WNT4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes SERKAL syndrome, OMIM:611812 for gene: WNT4
Publications for gene: WNT4 were updated from to 40992710; 18179883
Fetal anomalies v8.23 NID1 Ida Ertmanska Mode of inheritance for gene NID1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes Dandy-Walker malformation with occiptal cephalocele, OMIM:609222; Dandy-Walker syndrome, MONDO:0009072 for gene: NID1
Publications for gene: NID1 were updated from 30773799; 12480912; 25558065; 23674478 to 30773799; 25558065; 36702440; 12480912; 23674478
Fetal anomalies v8.23 SCN8A Ida Ertmanska Source Expert Review Amber was added to SCN8A.
Source NHS GMS was added to SCN8A.
Mode of inheritance for gene SCN8A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes developmental and epileptic encephalopathy, 13, MONDO:0013801; Developmental and epileptic encephalopathy 13, OMIM:614558 for gene: SCN8A
Publications for gene: SCN8A were updated from to 31026061; 27659738
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v8.23 UNC80 Ida Ertmanska Source Expert Review Amber was added to UNC80.
Source NHS GMS was added to UNC80.
Added phenotypes hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MONDO:0014777; Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801 for gene: UNC80
Publications for gene: UNC80 were updated from to 40801661; 41458659; 40048676
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v8.23 UTRN Ida Ertmanska gene: UTRN was added
gene: UTRN was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: UTRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UTRN were set to 20583184; 41244983
Phenotypes for gene: UTRN were set to arthrogryposis, MONDO:0008779
Fetal anomalies v8.23 CAPN6 Ida Ertmanska gene: CAPN6 was added
gene: CAPN6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CAPN6 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: CAPN6 were set to 41683570
Phenotypes for gene: CAPN6 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v8.23 KIAA1217 Ida Ertmanska gene: KIAA1217 was added
gene: KIAA1217 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: KIAA1217 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KIAA1217 were set to 32369272
Phenotypes for gene: KIAA1217 were set to vertebral disorder, MONDO:0045002
Fetal anomalies v8.23 GH1 Ida Ertmanska gene: GH1 was added
gene: GH1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GH1 were set to 24497717; 41073961
Phenotypes for gene: GH1 were set to Growth hormone deficiency, isolated, type II, OMIM:173100; Growth hormone deficiency, isolated, type IB, OMIM:612781; Growth hormone deficiency, isolated, type IA, OMIM:262400
Fetal anomalies v8.23 TUBA4A Ida Ertmanska gene: TUBA4A was added
gene: TUBA4A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA4A were set to 40666348; 38413182
Phenotypes for gene: TUBA4A were set to Congenital myopathy 26, MONDO:0979229; Congenital myopathy 26, OMIM:621225
Fetal anomalies v8.23 MFN2 Ida Ertmanska gene: MFN2 was added
gene: MFN2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to 37804319
Phenotypes for gene: MFN2 were set to lissencephaly spectrum disorders, MONDO:0018838; antenatal encephalopathy
Fetal anomalies v8.23 GJA4 Ida Ertmanska gene: GJA4 was added
gene: GJA4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: GJA4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GJA4 were set to 41416265
Phenotypes for gene: GJA4 were set to Thickened nuchal skin fold, HP:0000474
Fetal anomalies v8.23 PGBD5 Ida Ertmanska gene: PGBD5 was added
gene: PGBD5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGBD5 were set to 41533792
Phenotypes for gene: PGBD5 were set to Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, OMIM:621482; neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MONDO:0980968
Fetal anomalies v8.23 LGI1 Ida Ertmanska gene: LGI1 was added
gene: LGI1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: LGI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LGI1 were set to 40455867; 11810107; 41000458
Phenotypes for gene: LGI1 were set to Developmental and epileptic encephalopathy 121, OMIM:621475; developmental and epileptic encephalopathy 121, MONDO:0980966
Fetal anomalies v8.23 TSR2 Ida Ertmanska gene: TSR2 was added
gene: TSR2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TSR2 were set to 24942156
Phenotypes for gene: TSR2 were set to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, OMIM:300946; Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MONDO:0010493
Fetal anomalies v8.23 KLHL20 Ida Ertmanska gene: KLHL20 was added
gene: KLHL20 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLHL20 were set to 36214804; 38513146
Phenotypes for gene: KLHL20 were set to neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MONDO:0980709; Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, OMIM:621390
Fetal anomalies v8.23 ARHGAP35 Ida Ertmanska gene: ARHGAP35 was added
gene: ARHGAP35 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGAP35 were set to 41714291; 36178483
Phenotypes for gene: ARHGAP35 were set to Acrania-exencephaly-anencephaly sequence, a rare uniformaly lethal and progressive neural defect
Fetal anomalies v8.23 TBCB Ida Ertmanska gene: TBCB was added
gene: TBCB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TBCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCB were set to 40856104
Phenotypes for gene: TBCB were set to neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia, MONDO:0980706; Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia, OMIM:621382
Fetal anomalies v8.23 CCP110 Ida Ertmanska Source NHS GMS was added to CCP110.
Added phenotypes ciliopathy, MONDO:0005308 for gene: CCP110
Publications for gene: CCP110 were updated from to 26965371; 38857829
Fetal anomalies v8.23 RRP12 Ida Ertmanska gene: RRP12 was added
gene: RRP12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RRP12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RRP12 were set to 42144846; 41059649
Phenotypes for gene: RRP12 were set to basal ganglia calcification, idiopathic, 11, autosomal recessive, MONDO:0980939; Basal ganglia calcification, idiopathic, 11, autosomal recessive, OMIM:621452
Fetal anomalies v8.23 TSPYL1 Ida Ertmanska gene: TSPYL1 was added
gene: TSPYL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPYL1 were set to 32885560; 15273283; 33075815; 36082874
Phenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome, OMIM:608800
Fetal anomalies v8.23 HMGCS1 Ida Ertmanska gene: HMGCS1 was added
gene: HMGCS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HMGCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCS1 were set to 39531736
Phenotypes for gene: HMGCS1 were set to congenital myopathy 28 with rigid spine, MONDO:0980756; Congenital myopathy 28 with rigid spine, OMIM:621433; Congenital myopathy 28 with rigid spine
Fetal anomalies v8.23 UBR5 Ida Ertmanska gene: UBR5 was added
gene: UBR5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBR5 were set to 39721588
Phenotypes for gene: UBR5 were set to Neurodevelopmental disorder with speech delay and behavioral abnormalities, OMIM:621372
Fetal anomalies v8.23 ATP5O Ida Ertmanska Source Expert Review Amber was added to ATP5O.
Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 for gene: ATP5O
Publications for gene: ATP5O were updated from 35621276 to 39763161; 34954817; 35621276; 40913360
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v8.23 OPA1 Ida Ertmanska gene: OPA1 was added
gene: OPA1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: OPA1 were set to 26561570; 39233737
Phenotypes for gene: OPA1 were set to Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type), OMIM:616896; Mitochondrial DNA depletion syndrome 14A (encephalomyopathic type), OMIM:621481
Fetal anomalies v8.23 MIPEP Ida Ertmanska gene: MIPEP was added
gene: MIPEP was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIPEP were set to 27799064; 34620555; 36727025
Phenotypes for gene: MIPEP were set to lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, MONDO:0014976; Combined oxidative phosphorylation deficiency-31, OMIM:617228
Fetal anomalies v8.23 FHL2 Ida Ertmanska gene: FHL2 was added
gene: FHL2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FHL2 were set to 41039806; 36854411; 25358972
Phenotypes for gene: FHL2 were set to Congential dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021
Fetal anomalies v8.23 COX18 Ida Ertmanska gene: COX18 was added
gene: COX18 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX18 were set to 37468577
Phenotypes for gene: COX18 were set to Mitochondrial complex IV deficiency, nuclear type 25, OMIM:621487; neonatal hypertrophic cardiomyopathy; mitochondrial complex IV deficiency, nuclear-type, MONDO:0033885
Fetal anomalies v8.23 FTH1 Ida Ertmanska gene: FTH1 was added
gene: FTH1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FTH1 were set to 37660254; 41551370
Phenotypes for gene: FTH1 were set to Neurodegeneration with brain iron accumulation-9, OMIM:620669; neurodegeneration with brain iron accumulation 9, MONDO:0958012
Fetal anomalies v8.23 TPM1 Ida Ertmanska Source NHS GMS was added to TPM1.
Added phenotypes Cardiomyopathy, hypertrophic, 3, OMIM:115196; Cardiomyopathy, dilated, 1Y, OMIM:611878; Left ventricular noncompaction 9, OMIM:611878 for gene: TPM1
Publications for gene: TPM1 were updated from 33553264 to 40348118; 33553264
Fetal anomalies v8.23 SEL1L Ida Ertmanska Source NHS GMS was added to SEL1L.
Added phenotypes Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, OMIM:621068; neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, MONDO:0976131 for gene: SEL1L
Fetal anomalies v8.23 CLASP1 Ida Ertmanska gene: CLASP1 was added
gene: CLASP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CLASP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CLASP1 were set to 40343077; 39040917
Phenotypes for gene: CLASP1 were set to Lissencephaly, HP:0001339; focal epilepsy, MONDO:0005384
Fetal anomalies v8.23 SEC31A Ida Ertmanska Source NHS GMS was added to SEC31A.
Added phenotypes Halperin-Birk syndrome, OMIM:618651; neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MONDO:0032849 for gene: SEC31A
Publications for gene: SEC31A were updated from 30464055; 39725565; 40508110 to 30464055; 40508110; 39725565
Fetal anomalies v8.23 CDK9 Ida Ertmanska gene: CDK9 was added
gene: CDK9 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CDK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK9 were set to 26633546; 40954203; 33640901; 30237576
Phenotypes for gene: CDK9 were set to CHARGE-like syndrome with retinal dystrophy
Fetal anomalies v8.23 NRCAM Ida Ertmanska gene: NRCAM was added
gene: NRCAM was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRCAM were set to 35108495
Phenotypes for gene: NRCAM were set to Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833
Fetal anomalies v8.23 UNC13A Ida Ertmanska gene: UNC13A was added
gene: UNC13A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: UNC13A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC13A were set to 41125872; 36447687; 27648472
Phenotypes for gene: UNC13A were set to Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455; neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MONDO:0980940
Fetal anomalies v8.23 NOTCH3 Ida Ertmanska Source NHS GMS was added to NOTCH3.
Mode of inheritance for gene NOTCH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, OMIM:621295; cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, MONDO:0979867 for gene: NOTCH3
Publications for gene: NOTCH3 were updated from to 41196431; 38824264; 25870235; 37688971
Fetal anomalies v8.23 TOPORS Ida Ertmanska gene: TOPORS was added
gene: TOPORS was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TOPORS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOPORS were set to 40358237; 37227088; 34132027
Phenotypes for gene: TOPORS were set to ciliopathy, MONDO:0005308
Fetal anomalies v8.23 TNNC2 Ida Ertmanska gene: TNNC2 was added
gene: TNNC2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TNNC2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TNNC2 were set to 40560134; 33755597
Phenotypes for gene: TNNC2 were set to congenital myopathy 15, MONDO:0859335; Congenital myopathy 15, OMIM:620161
Fetal anomalies v8.23 SPATA5L1 Ida Ertmanska gene: SPATA5L1 was added
gene: SPATA5L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 37902276; 41375745; 34626583
Phenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616; neurodevelopmental disorder with hearing loss and spasticity, MONDO:0859206
Fetal anomalies v8.23 RPS6KC1 Ida Ertmanska gene: RPS6KC1 was added
gene: RPS6KC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RPS6KC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPS6KC1 were set to 41130203
Phenotypes for gene: RPS6KC1 were set to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, OMIM:621460
Fetal anomalies v8.23 PAK1 Ida Ertmanska gene: PAK1 was added
gene: PAK1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to 41124873; 36905087; 37820543; 31504246
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay, OMIM:618158
Fetal anomalies v8.23 DBR1 Ida Ertmanska gene: DBR1 was added
gene: DBR1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 40683339; 41366235; 29474921; 37656279
Phenotypes for gene: DBR1 were set to xerosis and growth failure with immune and pulmonary dysfunction syndrome, MONDO:0957786; Xerosis and growth failure with immune and pulmonary dysfunction syndrome, OMIM:620510
Fetal anomalies v8.23 RPS28 Ida Ertmanska gene: RPS28 was added
gene: RPS28 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS28 were set to 40135709; 24942156
Phenotypes for gene: RPS28 were set to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, OMIM:606164; Diamond-Blackfan anemia 15 with mandibulofacial dysostosis, MONDO:0011639
Fetal anomalies v8.23 SLC1A4 Ida Ertmanska gene: SLC1A4 was added
gene: SLC1A4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 25930971; 26138499; 37502193; 29989513; 27193218; 37194416; 31763347; 26041762; 34174466; 35605507
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657; spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, MONDO:0014725
Fetal anomalies v8.23 GRK2 Ida Ertmanska gene: GRK2 was added
gene: GRK2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRK2 were set to 38647386; 33200460
Phenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770
Fetal anomalies v8.23 NAE1 Ida Ertmanska gene: NAE1 was added
gene: NAE1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NAE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAE1 were set to 36608681
Phenotypes for gene: NAE1 were set to Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, OMIM:620210; neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MONDO:0859361
Fetal anomalies v8.23 CRNKL1 Ida Ertmanska gene: CRNKL1 was added
gene: CRNKL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CRNKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRNKL1 were set to 40857589
Phenotypes for gene: CRNKL1 were set to Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436; microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MONDO:0980935
Fetal anomalies v8.23 PCDHGC4 Ida Ertmanska gene: PCDHGC4 was added
gene: PCDHGC4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDHGC4 were set to 34244665
Phenotypes for gene: PCDHGC4 were set to Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880
Fetal anomalies v8.22 NUSAP1 Luke Stuart Added comment: Comment on list classification: 4 patients with de novo truncating NMD-escaping variants and consistent phenotype reported. Sufficient evidence to promote to Green at the next GMS panel update.
Fetal anomalies v8.20 NUSAP1 Luke Stuart edited their review of gene: NUSAP1: Changed rating: GREEN
Fetal anomalies v8.20 NUSAP1 Luke Stuart gene: NUSAP1 was added
gene: NUSAP1 was added to Fetal anomalies. Sources: Literature
Q4_26_promote_green tags were added to gene: NUSAP1.
Mode of inheritance for gene: NUSAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUSAP1 were set to 37005340; 42706591
Phenotypes for gene: NUSAP1 were set to microcephaly(MONDO:0001149); neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities(MONDO:0030063)
Mode of pathogenicity for gene: NUSAP1 was set to Other
Review for gene: NUSAP1 was set to AMBER
Added comment: Nonsense-mediated decay (NMD)-escaping truncating variants in NUSAP1 are associated with a syndromic neurodevelopmental phenotype characterised by congenital microcephaly, profound developmental impairment, neonatal-onset refractory epilepsy, and structural brain malformations.

Mo et al., 2023 (PMID 37005340). A de novo NUSAP1 variant, c.1209C>A, p.(Tyr403Ter), was identified by trio exome sequencing in two unrelated probands. Both had severe congenital microcephaly (<1st centile and <5th centile), severe/profound developmental delay, neonatal-onset refractory epilepsy, complex structural brain malformations, and hypotonia. Transcript studies suggested NMD-escape. Both cases were characterised by fetal anomalies on prenatal USS (microcephaly, agenesis of the CC, small hindbrain in individual II‐2 and microcephaly, inter‐hemispheric cyst in individual II‐1).

Jacob et al., 2026 (PMID 42706591): Trio exome and genome sequencing in two probands, ID#1 and ID#2, identified de novo heterozygous truncating variants in NUSAP1: c.1264C>T, p.(Arg422Ter), and c.1213C>T p.(Gln405Ter), respectively. Seizures began on the first day of life in ID#1 and on day 8 of life in ID#2; congenital microcephaly was also noted (<1st percentile in ID#1). Additional shared features included developmental delay, profound intellectual disability, and variable structural abnormalities on brain MRI. Both cases where characterised by abnormal fetal USS (intrauterine growth restriction and oligohydramnios in ID#1, and microcephaly and ventriculomegaly in ID#2).
The authors also reported unchanged NUSAP1 expression by RNA sequencing in one affected individual. They delineated a critical region at the 3′ end of NUSAP1, where nonsense variants introduce a premature termination codon and escape NMD. Such variants are absent from healthy controls (gnomAD), whereas frameshift variants producing C-terminal elongations appear tolerated, consistent with gene-level nonsense constraint (https://www.deciphergenomics.org/gene/NUSAP1/overview/protein-genomic-info)

Four unrelated affected individuals are reported (with three distinct de novo NMD-escaping truncating variants) and a consistent phenotype including severe-profound developmental impairment and intellectual disability, epilepsy, severe microcephaly, and structural brain anomalies. A green rating is recommended for intellectual disability, early onset or syndromic epilepsy, severe microcephaly, and fetal anomalies panels at the next GMS panel update.

NUSAP1 is not currently associated with any disease/ phenotype in OMIM, Gene2Phenotype, ClinGen (10/2026).
Sources: Literature
Fetal anomalies v8.18 SLIT3 Luke Stuart gene: SLIT3 was added
gene: SLIT3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIT3 were set to 29100090; 33933663; 12702769; 14550534; 32644051; 25691540; 37830982; 31613678
Phenotypes for gene: SLIT3 were set to congenital anomalies of kidney and urinary tract 1 (MONDO:0019719); congenital heart disease (MONDO:0005453); congenital diaphragmatic hernia (MONDO:0005711)
Penetrance for gene: SLIT3 were set to unknown
Review for gene: SLIT3 was set to AMBER
Added comment: Evidence in humans autosomal recessive SLIT3-related congenital anomalies, including CAKUT and isolated congenital diaphragmatic hernia, are limited to a single published individual/ family. Animal knockout models are reported to show a variety of phenotypes with varying penetrance, including CAKUT-like features, congenital heart defects, and congenital diaphragmatic herina (CDH).

Sanna-Cherchi et al., 2017; PMID: 29100090. Whole-exome sequencing identified homozygous NM_003062.3:c.1193delC, p.(Thr398SerfsTer37) in one individual with renal hypodysplasia/complex CAKUT and a congenital heart defect. The unaffected parents were heterozygous.

Kaya et al., 2021; PMID: 33933663: A homozygous missense variant c.1528C>T (p.Arg510Cys) was reported in dizygous twins from one family with isolated CDH.

Animal models: Homozygous Slit3−/− mice show congenital diaphragmatic hernia (CDH), associated with abnormal development/organisation of the central tendon of the diaphragm (PMID: 12702769; PMID: 14550534). Renal abnormalities, including kidney or ureter agenesis and renal hypoplasia, were reported in 20% of homozygotes surviving to adulthood and 40% of those dying neonatally (PMID 14550534). Other studies reported additional isolated phenotypes in homozygous Slit3−/− mice including osteopenia (PMID 32644051) and membranous ventricular septal defects (PMID: 25691540), and indeed SLIT3 has been associated with predisposition to congenital heart defects in humans (PMID 31613678). Right-ventricular enlargement was also reported in SLIT3-/- mice (PMID: 14550534) and was suspected to be secondary to CDH-induced pulmonary hypertension. Knockout mouse model phenotypes are reviewed in PMID 37830982.

An additional NHS GMS family is described with a syndromic presentation including renal dysgenesis and renal insufficiency and a homozygous canonical splice (predicted frameshift) variant, segregating with disease in 3 affected family members (internal communications). No cardiac features nor CDH are cited.

There is a lack of consistent phenotypic features reported in human subjects and animal models, with unclear penetrance. Thus an amber rating is recommended for CAKUT and congenital anomalies.

SLIT3 is not associated with any disease or phenotype in OMIM, ClinGen. G2P cites a 'limited' association with SLIT3-related congenital anomalies.
Sources: Literature
Fetal anomalies v8.17 TSEN34 Ida Ertmanska changed review comment from: Comment on list classification: There is one patient reported in literature with a biallelic variant in TSEN34 and Pontocerebellar hypoplasia type 2. While TSEN34 shares a biochemical function with other genes known to cause Pontocerebellar hypoplasia type 2, the clinical evidence for this gene-disease association is lacking in literature. Hence, TSEN34 should be demoted to Amber for Ataxia and cerebellar anomalies - narrow panel, until more evidence emerges.; to: Comment on list classification: There is one patient reported in literature with a biallelic variant in TSEN34 and Pontocerebellar hypoplasia type 2. The phenotype is fetally relevant as PCH can be detected on antenatal scans (PMID: 38165124). While TSEN34 shares a biochemical function with other genes known to cause Pontocerebellar hypoplasia type 2, the clinical evidence for this gene-disease association is lacking in literature. Hence, TSEN34 should be demoted to Amber for Ataxia and cerebellar anomalies - narrow panel, until more evidence emerges.
Fetal anomalies v8.16 PAX6 Luke Stuart edited their review of gene: PAX6: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.16 PAX6 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Luke Stuart, there is sufficient evidence available for the association of PAX6 biallelic loss-of-function variants with a severe, prenatal/neonatal-onset neurodevelopmental disorder. Reported cases were stillborn or died in the neonatal period, with only rare survival despite profound developmental abnormalities.

Monoallelic PAX6 variants are associated with developmental eye disorders, including aniridia, microphthalmia, coloboma and foveal hypoplasia. It is unclear whether monoallelic variants are relevant for the fetal anomalies panel. Hence, expert opinion is sought on whether the MOI should be updated to BOTH or Biallelic ONLY.
Fetal anomalies v8.15 PAX6 Luke Stuart changed review comment from: Biallelic PAX6 variants are associated with severe congenital malformation including structural brain anomalies and aniridia. The paucity of patients reports reflects embryonic/ perinatal lethality associated with biallelic PAX6 loss of function.

Glaser et al. 1994; PMID 7951315: A proband with compound heterozygous nonsense variants, c.607C>T (p.Arg203Ter) and c.1058C>G (p.Ser353Ter), presented with anophthalmia, microcephaly, complete agenesis of the corpus callosum and olfactory bulbs, hypoplasia of the cerebellum and pons, and died in the neonatal period.

Solomon et al., 2010 (PMID 19876904): A surviving patient with compound heterozygous mutations in PAX6 presented with microphthalmia, neonatal diabetes mellitus, hypopituitarism, and microcephaly, as well as trisomy 21. The patient inherited a missense mutation affecting the paired domain from the father (c.112C>T, p.Arg38Trp), who had microcornea and severe cataracts, and a nonsense mutation in HD from the mother (c.718C>T, p.Arg240Ter), who presented with classical familial aniridia. Complex brain anomalies including absent corpus callosum, hypoplastic brainstem, near-absent olfactory bulbs, and polymicrogyria were noted.

Schmidt-Sidor et al., 2009 (PMID 20054790) described a stillborn fetus; PAX6 c.117_128del12 (affecting the paired domain) and a frameshift variant, c.112delC, were identified in compound heterozygosity; autopsy revealed major CNS abnormalities including complete agenesis of the corpus callosum, cortical malformations and various cerebellar anomalies including cerebellar dysplasia; a similar phenotype was observed in a subsequent pregnancy.

This severe CNS malformation phenotype is recapitulated in the Sey (Small eye) mouse, which carries a PAX6 LoF point mutation c.622G>T (p.Gly208Ter) (Schmahl et al., 1993; PMID 8213068; Quinn et al., 2007; PMID 16979618)); Pax6 is produced in cerebellar granule cells and that PAX6 influences the morphogenesis of the whole cerebellum; homozygous Pax6Sey/Sey mice exhibit severe brain malformations, including cerebellar abnormalities, and die perinatally, whereas heterozygous Pax6Sey/+ mice survive and show developmental defects consistent with PAX6 haploinsufficiency.

3 unrelated patients are reported and the biallelic Sey mouse model recapitulates the human phenotype. Thus MOI comprising BOTH monoallelic and biallelic is proposed for the fetal anomalies panel.; to: Biallelic PAX6 variants are associated with severe congenital malformation including structural brain anomalies and aniridia. The paucity of patients reports reflects embryonic/ perinatal lethality associated with biallelic PAX6 loss of function. Monoallelic PAX6 pathogenic variants are associated with developmental eye disorders, including aniridia, microphthalmia, coloboma and foveal hypoplasia. Additional findings associated with PAX6-aniridia are variably reported, including Polymicrogyria (in 2/ 24 individuals reproted in PMID 12731001), structural brain MRI abnormalities affecting the commissures, corpus callosum, pineal gland; cataracts; glaucoma (Williamson et al., 2019 (PMID 31700164); Abouzeid et al. 2009 (PMID 19862335).

Glaser et al. 1994; PMID 7951315: A proband with compound heterozygous nonsense variants, c.607C>T (p.Arg203Ter) and c.1058C>G (p.Ser353Ter), presented with anophthalmia, microcephaly, complete agenesis of the corpus callosum and olfactory bulbs, hypoplasia of the cerebellum and pons, and died in the neonatal period.

Solomon et al., 2010 (PMID 19876904): A surviving patient with compound heterozygous mutations in PAX6 presented with microphthalmia, neonatal diabetes mellitus, hypopituitarism, and microcephaly, as well as trisomy 21. The patient inherited a missense mutation affecting the paired domain from the father (c.112C>T, p.Arg38Trp), who had microcornea and severe cataracts, and a nonsense mutation in HD from the mother (c.718C>T, p.Arg240Ter), who presented with classical familial aniridia. Complex brain anomalies including absent corpus callosum, hypoplastic brainstem, near-absent olfactory bulbs, and polymicrogyria were noted.

Schmidt-Sidor et al., 2009 (PMID 20054790) described a stillborn fetus; PAX6 c.117_128del12 (affecting the paired domain) and a frameshift variant, c.112delC, were identified in compound heterozygosity; autopsy revealed major CNS abnormalities including complete agenesis of the corpus callosum, cortical malformations and various cerebellar anomalies including cerebellar dysplasia; a similar phenotype was observed in a subsequent pregnancy.

This severe CNS malformation phenotype is recapitulated in the Sey (Small eye) mouse, which carries a PAX6 LoF point mutation c.622G>T (p.Gly208Ter) (Schmahl et al., 1993; PMID 8213068; Quinn et al., 2007; PMID 16979618)); Pax6 is produced in cerebellar granule cells and that PAX6 influences the morphogenesis of the whole cerebellum; homozygous Pax6Sey/Sey mice exhibit severe brain malformations, including cerebellar abnormalities, and die perinatally, whereas heterozygous Pax6Sey/+ mice survive and show developmental defects consistent with PAX6 haploinsufficiency.

3 unrelated patients are reported and the biallelic Sey mouse model recapitulates the human phenotype, thus a green rating for biallelic inheritance is recommended. It is unclear whether monoallelic PAX6-related disease lies within the intended scope of the fetal anomalies panel, thus expert review is requested for monoallelic PAX6-related disease.
Fetal anomalies v8.13 TBX6 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Luke Stuart, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.
Fetal anomalies v8.10 CLCN3 Achchuthan Shanmugasundram Phenotypes for gene: CLCN3 were changed from Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 to ?Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517; Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512
Fetal anomalies v8.7 CLCN3 Ida Ertmanska changed review comment from: Comment on mode of inheritance: There is currently only 1 recessive pedigree reported in literature where 2 sibs with a neurodevelopmental disorder with seizures and brain abnormalities harboured a homozygous frameshift CLCN3 variant. More than 20 individuals have been reported with an NDD and harbouring heterozygous missense variants in CLCN3. Hence, the mode of inheritance should be changed to MONOALLELIC only, until more evidence emerges for the BIALLELIC association. An expert_review tag was added to ensure GMS is in agreement on this demotion.; to: Comment on mode of inheritance: There is currently only 1 recessive pedigree reported in literature where 2 sibs with a neurodevelopmental disorder with seizures and brain abnormalities harboured a homozygous frameshift CLCN3 variant. More than 20 individuals have been reported with an NDD and harbouring heterozygous missense variants in CLCN3. Hence, the mode of inheritance should be changed to MONOALLELIC only, until more evidence emerges for the BIALLELIC association.
Fetal anomalies v8.7 PAX3 Ida Ertmanska changed review comment from: Comment on list classification: There are now 2 cases reported with biallelic PAX3 variants and severe, early-onset "Waardenburg syndrome, type 3", otherwise known as Klein-Waardenburg syndrome, with multiple abnormalities detected on antenatal scans. Based on available evidence, the MOI should remain 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown', with "moi-watchlist" tag added in anticipation of further fetal reports.; to: Comment on list classification: There are now 2 cases reported with biallelic PAX3 variants and severe, early-onset "Waardenburg syndrome, type 3", otherwise known as Klein-Waardenburg syndrome, with multiple abnormalities detected on antenatal scans. Based on available evidence, the MOI should remain 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown', with a "watchlist_moi" tag added in anticipation of further fetal reports.
Fetal anomalies v8.7 PAX3 Ida Ertmanska commented on gene: PAX3: Comment on list classification: There are now 2 cases reported with biallelic PAX3 variants and severe, early-onset "Waardenburg syndrome, type 3", otherwise known as Klein-Waardenburg syndrome, with multiple abnormalities detected on antenatal scans. Based on available evidence, the MOI should remain 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown', with "moi-watchlist" tag added in anticipation of further fetal reports.
Fetal anomalies v8.7 SMAD5 Ludmila Volozonoka reviewed gene: SMAD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 42481704, 39631055, 40619738; Phenotypes: congenitad heart defect, patent ductus arteriosus, ventricular septal defect, hypoplastic left heart; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.7 PAX6 Luke Stuart reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951315, 19876904, 20054790, 8213068, 16979618; Phenotypes: Corpus callosum, agenesis of (MONDO:0009022); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v8.7 CLCN3 Ida Ertmanska changed review comment from: Comment on mode of inheritance: There is currently only 1 recessive pedigree reported in literature where 2 sibs with a neurodevelopmental disorder with seizures and brain abnormalities harboured a homozygous frameshift CLCN3 variant. More than 20 individuals have been reported with an NDD and harbouring heterozygous missense variants in CLCN3. Hence, the mode of inheritance should be changed to MONOALLELIC only, until more evidence emerges for the BIALLELIC association.; to: Comment on mode of inheritance: There is currently only 1 recessive pedigree reported in literature where 2 sibs with a neurodevelopmental disorder with seizures and brain abnormalities harboured a homozygous frameshift CLCN3 variant. More than 20 individuals have been reported with an NDD and harbouring heterozygous missense variants in CLCN3. Hence, the mode of inheritance should be changed to MONOALLELIC only, until more evidence emerges for the BIALLELIC association. An expert_review tag was added to ensure GMS is in agreement on this demotion.
Fetal anomalies v8.7 CLCN3 Ida Ertmanska reviewed gene: CLCN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34186028; Phenotypes: ?Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517, Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.7 TBX6 Luke Stuart reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25564734, 33058178, 23335591, 12620991; Phenotypes: Spondylocostal dysostosis 5 (OMIM #122600), spondylocostal dysostosis 5 (MONDO:0007389); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v8.7 NSMCE2 Ida Ertmanska Added comment: Comment on list classification: There are now 3 probands reported in literature (2 with a shared ancestral haplotype) with biallelic frameshift NSMCE2 variants and features consistent with Seckel syndrome 10 (microcephalic primordial dwarfism). There is also a supportive zebrafish model, where nsmce2 knockout resulted in dwarfism - rescued by injection of WT NSMCE2 but not mutant mRNA with patient variants. In addition, a patient reported in Decipher has biallelic NSMCE2 frameshift variants and features consistent with Seckel syndrome, including IUGR and oligohydramnios noted on prenatal scans. Taken together, there is enough evidence in literature to promote this gene to Green at the next update.
Fetal anomalies v8.6 NSMCE2 Ida Ertmanska gene: NSMCE2 was added
gene: NSMCE2 was added to Fetal anomalies. Sources: Literature
Q3_26_promote_green tags were added to gene: NSMCE2.
Mode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSMCE2 were set to 25105364; https://doi.org/10.1002/ajmg.a.70286
Phenotypes for gene: NSMCE2 were set to Seckel syndrome 10, OMIM:617253; Seckel syndrome, MONDO:0014991
Review for gene: NSMCE2 was set to GREEN
Added comment: https://doi.org/10.1002/ajmg.a.70286 Peduto et al., 2026 - online before print
Study described an 11-year-old French male with compound heterozygous NSMCE2 variants (c.346del, p.Ser116Leufs*18 & c.697_700dupAGGG, p.Ala234Glufs*4) and a phenotype consistent with microcephalic primordial dwarfism / Seckel syndrome 10, including severe pre- and postnatal growth restriction, marked microcephaly, feeding difficulties, characteristic dysmorphic features, dental anomalies, severe insulin resistance with hypertriglyceridemia and hepatic steatosis, primary gonadal failure, renal lithiasis, and skeletal anomalies, including platyspondyly and right-hip osteochondritis. Neuroimaging revealed bifrontal gyral simplification and a cavernous carotid aneurysm. In addition, the proband exhibited a bilateral developmental maculopathy, an ocular feature not previously associated with NSMCE2 deficiency. Pregnancy was complicated by oligohydramnios, early intrauterine growth retardation (IUGR), and cerebral gyration delay. Parents are not consanguineous. Seq method: Exome seq, variants confirmed in trans.
His measurements at birth were: weight 1125 g (−5.61 SD), length 37 cm (−6.98 SD), and occipitofrontal circumference (OFC) 25 cm (−7.06 SD).

PMID: 39184883 Tatiya, Kesri, and Ukey, 2024
14-year-old female patient with clinical diagnosis of 'Seckel syndrome', including microcephaly (head circumference of 36cm at 13 yrs old), but no genetic molecular diagnosis made.

PMID: 25105364 Payne et al., 2014
Report of 2 unrelated women with severe microcephalic dwarfism, marked insulin resistance, and primary gonadal failure - comp het for the same 2 frameshift mutations in the NSMCE2 gene. Both families are of European ancestry, and while not immediately related, they had shared common ancestral haplotypes.
Functional evidence: in zebrafish, knockdown of the NSMCE2 ortholog produced dwarfism, which was ameliorated by re-expression of WT, but not SUMO-ligase–deficient NSMCE.

Additional evidence (Decipher case):
Patient: 573598 - female fetus, comp het for NSMCE2 variants: c.25​del, p.Ser9GlnfsTer12 & c.697_700dup, p.Ala234GlufsTer4 - confirmed in trans. Clinical features: macrotia, IUGR, oligohydramnios, short stature, primary microcephaly, micrognathia, bilateral clubfoot, abnormal cerebellum morphology, abnormal cerebral cortex morphology, ventriculomegaly. Pregnancy was lost at 34 weeks.

The association between NSMCE2 and AR Seckel syndrome 10 has been classified as Moderate in ClinGen (Feb 2025, Syndromic Disorders GCEP). The gene is also associated with AR Seckel syndrome 10, MIM:617253 in OMIM (accessed 2rd Sept 2026).
Sources: Literature
Fetal anomalies v8.5 PAX3 Ida Ertmanska reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26443304, 35607853; Phenotypes: Waardenburg syndrome, type 1, OMIM:193500, Waardenburg syndrome type 1, MONDO:0008670, Waardenburg syndrome, type 3, OMIM:148820, Waardenburg syndrome type 3, MONDO:0007862, Klein-Waardenburg syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.4 MMP9 Ida Ertmanska Deleted their review
Fetal anomalies v8.4 MMP9 Ida Ertmanska Deleted their comment
Fetal anomalies v8.4 PCLO Achchuthan Shanmugasundram Phenotypes for gene: PCLO were changed from Pontocerebellar hypoplasia, type 3, OMIM:608027 to Pontocerebellar hypoplasia, type 3, OMIM:608027; PEHO syndrome, MONDO:0009841; progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
Fetal anomalies v8.3 SEC31A Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated probands reported with 3 unique homozygous variants in SEC31A and a highly syndromic presentation, resulting in early lethality. Two individuals had IUGR. In addition, a neuron-specific sec31a knock-down in Drosophila recapitulated early lethality seen in the patients. Based on available evidence, this gene should be Green on Fetal anomalies.
Fetal anomalies v8.2 SEC31A Ida Ertmanska gene: SEC31A was added
gene: SEC31A was added to Fetal anomalies. Sources: Literature
Q3_26_promote_green tags were added to gene: SEC31A.
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to 30464055; 39725565; 40508110
Phenotypes for gene: SEC31A were set to ?Halperin-Birk syndrome, OMIM:618651; neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MONDO:0032849
Review for gene: SEC31A was set to GREEN
Added comment: PMID: 39725565 Almontashiri et al., 2025
Female proband; parents are first cousins. IUGR and multiple congenital anomalies were seen on the antenatal scan. She was born very small, with dysmorphic facial features. She had hypotonia with hyperreflexia, but no seizures. Head ultrasound revealed absent CC and an interhemispheric cyst. She had short bowed limbs, contractures, Wormian skull bones, shortening of the long bones, and microcephaly. She died at 15 days old due to bradycardia. Solo WES revealed a homozygous SEC31A splice variant c.1435-1G>A. Splice AI score is
Splice-Altering / strong (1) for this variant. RT-PCR showed exon skipping and overall reduction in SEC31A expression.

PMID: 40508110 AlTassan et al., 2025
Report of a 5yo male proband with global developmental delay, seizure disorder, hypotonia, spasticity, dysphagia, dysmorphic features, and bilateral hearing loss. Growth parameters indicated microcephaly, failure to thrive, and short stature. He was born to consanguineous parents. WES and WGS showed a homozygous SEC31A variant (c.1359C>G, p.Cys453Trp) - variant not in gnomAD v4.1.1. Unaffected parents confirmed het. Parents confirmed to be consanguineous, Arab ethnicity.

PMID: 30464055 Halperin et al., 2018
2 Bedouin sibs from a consanguineous family. The syndromic presenation included IUGR, marked developmental delay, spastic quadriplegia with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory deafness, optic nerve atrophy with no eye fixation, bilateral cataracts, microcephaly, and agenesis of CC. Focal and generalised tonic-clonic seizures were seen from birth. Both individuals died before age 4 years. Seq method: homozygosity mapping, WES. Both affected individuals were homozygous for the SEC31A: c.2776_2777dup, p.Ala927Thrfs*76 variant - not in gnomAD v4.1.1.

Functional evidence: Drosophila sec31a -/- null model showed early embryonic lethality. Knockdown of sec31a with RNAi in the eye yielded flies with severe eye phenotypes (disorganised ommatids). Brain-specific knockdown: larvae appeared to develop normally until death in the third instar larvae stage.
Sources: Literature
Fetal anomalies v8.1 MMP9 Ida Ertmanska reviewed gene: MMP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615667, 28342220, 34407464, 36035187; Phenotypes: Metaphyseal anadysplasia 2, OMIM:613073, metaphyseal anadysplasia 2, MONDO:0013113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.1 MMP9 Ida Ertmanska Deleted their review
Fetal anomalies v8.1 MMP9 Ida Ertmanska Deleted their comment
Fetal anomalies v8.1 MMP9 Ida Ertmanska reviewed gene: MMP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 34407464, 36035187; Phenotypes: Metaphyseal anadysplasia 2, OMIM:613073, metaphyseal anadysplasia 2, MONDO:0013113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v7.33 FBN2 Ida Ertmanska reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 28383543, 33571691, 38791509; Phenotypes: Contractural arachnodactyly, congenital, OMIM:121050, congenital contractural arachnodactyly, MONDO:0007363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v7.32 CDK20 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated families reported with biallelic CDK20 variants and with a multisystem phenotype, which included five foetuses from three families (resulting in termination of pregnancies) and two live children. This gene can therefore promoted to green rating in the next GMS update.
Fetal anomalies v7.31 CDK20 Achchuthan Shanmugasundram gene: CDK20 was added
gene: CDK20 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CDK20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK20 were set to 42409022
Phenotypes for gene: CDK20 were set to ciliopathy, MONDO:0005308; Ventriculomegaly, HP:0002119; hydrocephalus, MONDO:0001150
Review for gene: CDK20 was set to GREEN
Added comment: PMID:42409022 (2026) reported a cohort of seven individuals from five unrelated families including five deceased foetuses and two living children presenting with a consistent pattern of multisystem anomalies.

Recurrent prenatal findings included severe ventriculomegaly or holoprosencephaly, midline cleft lip and palate, cryptophthalmos and/or anophthalmia, and limb anomalies, resulting in a decision to terminate the pregnancy. Postmortem examinations demonstrated a spectrum of brain malformations, including aqueduct stenosis, agenesis of the olfactory bulb and tract, absent pituitary stalk, corticospinal tract abnormalities, corpus callosum abnormalities, absent septum pellucidum, polydactyly and a sandal toe gap. The two living individuals showed overlapping features, including structural brain anomalies, panhypopituitarism, genital anomalies, and severe global developmental delay.

These families were identified with either homozygous or compound heterozygous variants in CDK20 gene, with six variants in total.

Immunoblot analysis of fibroblasts derived from two affected fetuses with the homozygous c.687+6T>C variant demonstrated reduced CDK20 levels, and were significantly deficient in cilium formation and function, with abnormal cilium morphology and significantly decreased Hedgehog responsiveness.

This gene has not yet been associated with any relevant phenotypes either in OMIM (last accessed 23 July 2026) or in Gene2Phenotype.
Sources: Literature
Fetal anomalies v7.27 BCL11A Ida Ertmanska Phenotypes for gene: BCL11A were changed from INTELLECTUAL DISABILITY to Dias-Logan syndrome, OMIM:617101; Dias-Logan syndrome, MONDO:0014914; BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin
Fetal anomalies v7.26 NPR2 Achchuthan Shanmugasundram Phenotypes for gene: NPR2 were changed from ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE to Short stature with nonspecific skeletal abnormalities, OMIM:616255
Fetal anomalies v7.24 VCP Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 7 unrelated individuals with Adams-Oliver syndrome due to heterozygous hypermorphic variants in the NTD domain of VCP.
Fetal anomalies v7.23 VCP Arina Puzriakova gene: VCP was added
gene: VCP was added to Fetal anomalies. Sources: Literature
Q2_26_promote_green tags were added to gene: VCP.
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCP were set to 41979051
Phenotypes for gene: VCP were set to Adams-Oliver syndrome, MONDO:0007034
Mode of pathogenicity for gene: VCP was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: VCP was set to GREEN
Added comment: Lehman et al 2026 (PMID: 41979051) report 7 unrelated families with Adams-Oliver syndrome characterised by aplasia cutis congenita and terminal limb reduction defects. Members of three families displayed features of multisystem proteinopathy, previously associated with this gene, including a parent (myopathy, lytic bone lesions and/or neuropathy in F1 and 2) or grandparent (frontotemporal dementia in F4). Pulmonary hypertension was found in 6/7 families.

Heterozygous rare missense variants in the VCP gene were identified by WGS or WES (4 de novo, 2 inherited and 1 presumed inherited). Variants clustered in the N-terminal domain (NTD), and the same amino acid residue, p.Arg89, was altered in 4/7 families. Variants were shown to exert a GoF effect, leading to overactive ATP hydrolysis and caused NTD hyperflexibility with loss of interdomain coupling.
Sources: Literature
Fetal anomalies v7.22 NPR2 Ida Ertmanska changed review comment from: PMID: 40424589 Renes et al., 2025
Report of 18 different NPR2 variants in 27 Dutch children with short stature (all heterozygous). Truncating variants (5/18) had a more severe effect than non-truncating variants (-3.3 vs -2.5 SDS respectively). Also, variants in the kinase homology domain (6/18 variants) were more severe than variants in other domains (-3.2 SDS vs -2.5 SDS). Majority of patients had mild features suggestive of skeletal dysplasia: mild dysproportion, cone-shaped epiphysis, and shortened metacarpals. 21/27 individuals had dysmorphic features of the hands, 13/27 with brachydactyly, clinodactyly and syndactyly also reported. All the children were 4-18 years old at the start of GH treatment (and height measurement).

Consider MOI change to BOTH monoallelic and biallelic, autosomal or pseudoautosomal, as heterozygous individuals also present with skeletal features, limb disorders.; to: PMID: 40424589 Renes et al., 2025
Report of 18 different NPR2 variants in 27 Dutch children with short stature (all heterozygous). Truncating variants (5/18) had a more severe effect than non-truncating variants (-3.3 vs -2.5 SDS respectively). Also, variants in the kinase homology domain (6/18 variants) were more severe than variants in other domains (-3.2 SDS vs -2.5 SDS). Majority of patients had mild features suggestive of skeletal dysplasia: mild dysproportion, cone-shaped epiphysis, and shortened metacarpals. 21/27 individuals had dysmorphic features of the hands, 13/27 with brachydactyly, clinodactyly and syndactyly also reported. All the children were 4-18 years old at the start of GH treatment (and height measurement).

Brachydactyly is a consistent feature in recessive NPR2-related skeletal dysplasia (Acromesomelic dysplasia 1, Maroteaux type). Heterozygous individuals also present with skeletal features, limb disorders. Hence, consider MOI change to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Fetal anomalies v7.22 NPR2 Ida Ertmanska changed review comment from: PMID: 40424589 Renes et al., 2025
Report of 18 different NPR2 variants in 27 Dutch children with short stature (all heterozygous). Truncating variants (5/18) had a more severe effect than non-truncating variants (-3.3 vs -2.5 SDS respectively). Also, variants in the kinase homology domain (6/18 variants) were more severe than variants in other domains (-3.2 SDS vs -2.5 SDS). Majority of patients had mild features suggestive of skeletal dysplasia: mild dysproportion, cone-shaped epiphysis, and shortened metacarpals. 21/27 individuals had dysmorphic features of the hands, 13/27 with brachydactyly, clinodactyly and syndactyly also reported. All the children were 4-18 years old at the start of GH treatment (and height measurement) so the TD criteria are fulfilled for at least 5 individuals (> 2 years old and height <-3SD).

Consider MOI change to BOTH monoallelic and biallelic, autosomal or pseudoautosomal, as heterozygous individuals also present with skeletal features, limb disorders.; to: PMID: 40424589 Renes et al., 2025
Report of 18 different NPR2 variants in 27 Dutch children with short stature (all heterozygous). Truncating variants (5/18) had a more severe effect than non-truncating variants (-3.3 vs -2.5 SDS respectively). Also, variants in the kinase homology domain (6/18 variants) were more severe than variants in other domains (-3.2 SDS vs -2.5 SDS). Majority of patients had mild features suggestive of skeletal dysplasia: mild dysproportion, cone-shaped epiphysis, and shortened metacarpals. 21/27 individuals had dysmorphic features of the hands, 13/27 with brachydactyly, clinodactyly and syndactyly also reported. All the children were 4-18 years old at the start of GH treatment (and height measurement).

Consider MOI change to BOTH monoallelic and biallelic, autosomal or pseudoautosomal, as heterozygous individuals also present with skeletal features, limb disorders.
Fetal anomalies v7.22 INPP4A Ida Ertmanska Phenotypes for gene: INPP4A were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, OMIM:621354; neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MONDO:0980699
Fetal anomalies v7.21 GNAS Arina Puzriakova Deleted their comment
Fetal anomalies v7.21 GNAS Arina Puzriakova Deleted their comment
Fetal anomalies v7.21 GNAS Arina Puzriakova Deleted their comment
Fetal anomalies v7.21 GNAS Arina Puzriakova commented on gene: GNAS: The mode of inheritance of this gene has been updated to Unknown following NHS Genomic Medicine Service approval. This mode of inheritance enables inclusive tiering across all segregation patterns for this gene.
Fetal anomalies v7.20 GNAS Arina Puzriakova commented on gene: GNAS: The mode of inheritance of this gene has been updated to Unknown following NHS Genomic Medicine Service approval. This mode of inheritance enables inclusive tiering across all segregation patterns for this gene.
Fetal anomalies v7.19 GNAS Arina Puzriakova commented on gene: GNAS: The mode of inheritance of this gene has been updated to Unknown following NHS Genomic Medicine Service approval. This mode of inheritance enables inclusive tiering across all segregation patterns for this gene.
Fetal anomalies v7.18 GNAS Arina Puzriakova reviewed gene: GNAS: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Fetal anomalies v7.16 Arina Puzriakova List of related panels changed from R21; Fetal anomalies with a likely genetic cause; Fetal anomalies with a likely genetic cause - non urgent; R412; GT520; TP260; TP416 to Fetal anomalies with a likely genetic cause; R21; Fetal anomalies with a likely genetic cause - non urgent; R412; GT520; TP260; TP416
Fetal anomalies v7.15 Ida Ertmanska List of related panels changed from R21; Fetal anomalies with a likely genetic cause; Fetal anomalies with a likely genetic cause - non urgent; R412 to R21; Fetal anomalies with a likely genetic cause; Fetal anomalies with a likely genetic cause - non urgent; R412; GT520; TP260; TP416
Fetal anomalies v7.12 CNTN1 Arina Puzriakova Phenotypes for gene: CNTN1 were changed from Myopathy, congenital, Compton-North, OMIM:612540 to Congenital myopathy 12, OMIM:612540
Fetal anomalies v7.11 NPR2 Ida Ertmanska edited their review of gene: NPR2: Changed rating: GREEN; Changed publications to: 40424589; Changed phenotypes to: Short stature with nonspecific skeletal abnormalities, OMIM:616255; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v7.11 NPR2 Ida Ertmanska changed review comment from: PMID: 40424589 Renes et al., 2025
Report of 18 different NPR2 variants in 27 Dutch children with short stature (all heterozygous). Truncating variants (5/18) had a more severe effect than non-truncating variants (-3.3 vs -2.5 SDS respectively). Also, variants in the kinase homology domain (6/18 variants) were more severe than variants in other domains (-3.2 SDS vs -2.5 SDS). Majority of patients had mild features suggestive of skeletal dysplasia. 21/27 individuals had dysmorphic features of the hands, 13/27 with brachydactyly, clinodactyly and syndactyly also reported. All the children were 4-18 years old at the start of GH treatment (and height measurement) so the TD criteria are fulfilled for at least 5 individuals (> 2 years old and height <-3SD).; to: PMID: 40424589 Renes et al., 2025
Report of 18 different NPR2 variants in 27 Dutch children with short stature (all heterozygous). Truncating variants (5/18) had a more severe effect than non-truncating variants (-3.3 vs -2.5 SDS respectively). Also, variants in the kinase homology domain (6/18 variants) were more severe than variants in other domains (-3.2 SDS vs -2.5 SDS). Majority of patients had mild features suggestive of skeletal dysplasia: mild dysproportion, cone-shaped epiphysis, and shortened metacarpals. 21/27 individuals had dysmorphic features of the hands, 13/27 with brachydactyly, clinodactyly and syndactyly also reported. All the children were 4-18 years old at the start of GH treatment (and height measurement) so the TD criteria are fulfilled for at least 5 individuals (> 2 years old and height <-3SD).

Consider MOI change to BOTH monoallelic and biallelic, autosomal or pseudoautosomal, as heterozygous individuals also present with skeletal features, limb disorders.
Fetal anomalies v7.11 GRHL2 Ida Ertmanska edited their review of gene: GRHL2: Changed rating: AMBER
Fetal anomalies v7.11 DST Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #621510 & 621511) and the OMIM record was last accessed on 01 June 2026.
Fetal anomalies v7.11 DST Achchuthan Shanmugasundram Phenotypes for gene: DST were changed from Arthrogryposis multiplex congenita, MONDO:0015168; arthrogryposis, MONDO:0859248; cardiomyopathy, MONDO:0004994; congenital myopathy, MONDO:0019952 to Congenital myopathy 29 with contractures, OMIM:621510; congenital myopathy 29 with contractures, MONDO:0981030; Lethal congenital contracture syndrome 12, OMIM:621511; lethal congenital contracture syndrome 12, MONDO:0981031
Fetal anomalies v7.8 GRHL2 Ida Ertmanska reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152456, 27612988; Phenotypes: Ectodermal dysplasia/short stature syndrome, OMIM:616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v7.8 RET Ida Ertmanska commented on gene: RET: Comment on mode of inheritance: I have found very limited evidence of RET-related recessive disease - 2 cases of severe Hirschsprung disease, and no cases with biallelic RET variants and renal agenesis. Hence, the MOI should be changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted at the next update.
Fetal anomalies v7.7 RET Ida Ertmanska reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: 9090527, 34267336; Phenotypes: {Hirschsprung disease, susceptibility to, 1}, OMIM:142623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v7.7 RNF2 Ida Ertmanska Added comment: Comment on list classification: There are now 6 unrelated individuals reported in literature with heterozygous variants (mostly de novo missense) and Luo-Schoch-Yamamoto syndrome. Prenatal complications were present in all 6 patients. Hence, this gene will be recommended for promotion to Green once PMID:40831499 is published.
Fetal anomalies v7.6 RNF2 Ida Ertmanska gene: RNF2 was added
gene: RNF2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RNF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF2 were set to 33864376; 40831499
Phenotypes for gene: RNF2 were set to Luo-Schoch-Yamamoto syndrome, OMIM:619460; Luo-Schoch-Yamamoto syndrome, MONDO:0859171
Review for gene: RNF2 was set to GREEN
Added comment: PMID: 40831499 Ryan et al., 2025 - PRE-PRINT
identified 3 monoallelic RNF2 variants in 4 unrelated individuals: c.245G>T (p.S82I) (in 2 unrelated cases), c.796A>T (p.R266W), and c.472C>T (p.R158*). 3 cases were confirmed to be de novo. Patients were age 21 months - 7 yrs at examination. All 4 patients had prenatal complications (IUGR, oligohydramnios, polyhydramnios), gastrointestinal and feeding difficulties, and dysmorphic features. Cardiovascular anomalies detected in 3/4 individuals, 2 had hearing loss.
Neurological symptoms: hypotonia (3/4), seizures (1/3), spasticity (2/4), developmental delay and intellectual disability (3/4).

PMID:33864376 (Luo et al 2021) report 2 cases of children with de novo missense variants (p.R70H and p.S82R) in RNF2 and a phenotype of intrauterine growth retardation, severe intellectual disabilities, behavioral problems, seizures, feeding difficulties and dysmorphic features. Seizures started in infancy. Both variants are absent from gnomad. Functional studies in Drosophila showed that the disease-linked variants (p.R70H and p.S82R) behave as LoF alleles.
Sources: Literature
Fetal anomalies v7.3 GNPNAT1 Ida Ertmanska commented on gene: GNPNAT1: Comment on list classification: There are now 4 unrelated individuals reported with biallelic GNPNAT1 missense variants and skeletal dysplasia, which is detectable on fetal ultrasound. Hence, this gene should be promoted to Green at the next update.
Fetal anomalies v7.3 GNPNAT1 Ida Ertmanska reviewed gene: GNPNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35427807, 36097642; Phenotypes: ?Rhizomelic dysplasia, Ain-Naz type, OMIM:619598, rhizomelic dysplasia, Ain-Naz type, MONDO:0859203; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v7.3 CLCF1 Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated individuals reported in literature with biallelic CLCF1 variants and cold-induced sweating syndrome 2, with campodactyly and elbow contractures being a consistent feature in all 3 cases. Hence, this gene can be promoted to Green at the next update.
Fetal anomalies v7.2 CLCF1 Ida Ertmanska gene: CLCF1 was added
gene: CLCF1 was added to Fetal anomalies. Sources: Literature
Q2_26_promote_green tags were added to gene: CLCF1.
Mode of inheritance for gene: CLCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCF1 were set to 16782820; 20400119; 32512309
Phenotypes for gene: CLCF1 were set to Cold-induced sweating syndrome 2, OMIM:610313; cold-induced sweating syndrome 2, MONDO:0012467; Elbow contracture, HP:0034391; Bilateral camptodactyly, HP:0005617
Review for gene: CLCF1 was set to GREEN
Added comment: PMID: 32512309 Buers et al., 2020
11-year-old boy of European ancestry, homozygous for CLCF1 c.321C>G, p.Tyr107*, with Crisponi Syndrome/cold-induced sweating syndrome 2.

PMID: 20400119 Hahn et al., 2010
Case 1 - female patient, Hungarian (non-consanguineous parents), 25yo - she had bilateral campodactyly (hands and feet), elbow contractures, dysmorphic features, thoracolumbar scoliosis, dry and scaly skin in neonatal period, and oral-facial weakness; from age 10 years she experienced excessive sweating triggered by cold or stressors; neurodevelopment was normal.
Case 2 - sibling of Case 1, 20yo - similarly affected, with profuse sweating in cold temperatures, difficulty sucking and swallowing in infancy, elbow contracture, campodactyly, scoliosis.
Both sibs had CLCF1 variants c.46T>C, p.Cys16Arg and c.676T>C, p.*226Argext*170 (both absent from gnomAD v4.1.1). No sequence variants detected in CRLF1
Case 3 & 4 - identical presentation, but biallelic CRLF1 variants detected.

PMID: 16782820 Rousseau et al., 2006
Australian man examined at age 46 years - he had feeding difficulties in infancy, lifelong issue of profuse sweating in cold temperatures and unable to sweat in hot conditions; also noted to have elbow contractures, campodactyly and syndactyly, thoracolumbar scoliosis and lumbar lordosis, mild sensorimotor peripheral neuropathy; brain MRI and tomography were normal. No family history. He was compound heterozygous for CLCF1 c.590G>T, p.Arg197Leu and c.321C>A, p.Tyr107* (not in gnomAD v4).

Functional evidence:
PMID: 19098279 Zou et al., 2009 - A complete knock-out of CLCF1 in mice is lethal at P1: underdeveloped motor neurons of the face and jaw prevent the pups from suckling - multifocal neuronal hypoplasia phenotype.

This gene is associated with AR Cold-induced sweating syndrome 2, OMIM:610313 in OMIM (accessed 11th May 2026). CLCF1 is not yet associated with a condition in G2P or ClinGen.
Sources: Literature
Fetal anomalies v6.198 FAM177A1 Ida Ertmanska Phenotypes for gene: FAM177A1 were changed from Neurodevelopmental disorder with white matter abnormalities and gait disturbance to Neurodevelopmental disorder with white matter abnormalities and gait disturbance, OMIM:621152
Fetal anomalies v6.196 ITCH Achchuthan Shanmugasundram changed review comment from: As reviewed by Ludmila Volozonoka, the single patient from PMID:36338154 is the only reported case presenting prenatally with intrauterine growth retardation. Hence, this gene can only be rated red on Fetal anomalies panel. This gene is rated with red rating on the fetal panel from PanelApp Australia.

This gene has already been rated green or proposed for green rating on panels relevant for this multi-system phenotype such as R15 Primary immunodeficiency or monogenic inflammatory bowel disease, R413 Autoinflammatory disorders and R27 Paediatric disorders (via DDG2P panel).; to: As reviewed by Ludmila Volozonoka, the single patient from PMID:36338154 is the only reported case presenting prenatally with intrauterine growth retardation. Hence, this gene can only be rated red on Fetal anomalies panel. This gene is rated with red rating on the fetal panel from PanelApp Australia.

This gene has been associated with 'Autoimmune disease, multisystem, with facial dysmorphism' phenotype (MIM #613385) in OMIM (last accessed 29 April 2026).

This gene has already been rated green or proposed for green rating on panels relevant for this multi-system phenotype such as R15 Primary immunodeficiency or monogenic inflammatory bowel disease, R413 Autoinflammatory disorders and R27 Paediatric disorders (via DDG2P panel).
Fetal anomalies v6.196 ITCH Achchuthan Shanmugasundram Phenotypes for gene: ITCH were changed from Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385 to Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385; syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
Fetal anomalies v6.194 ITCH Achchuthan Shanmugasundram edited their review of gene: ITCH: Added comment: As reviewed by Ludmila Volozonoka, the single patient from PMID:36338154 is the only reported case presenting prenatally with intrauterine growth retardation. Hence, this gene can only be rated red on Fetal anomalies panel. This gene is rated with red rating on the fetal panel from PanelApp Australia.

This gene has already been rated green or proposed for green rating on panels relevant for this multi-system phenotype such as R15 Primary immunodeficiency or monogenic inflammatory bowel disease, R413 Autoinflammatory disorders and R27 Paediatric disorders (via DDG2P panel).; Changed rating: RED; Changed publications to: 36338154; Changed phenotypes to: Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385, syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.194 SMN1 Eleanor Williams commented on gene: SMN1: Added the Q2_26_demote_red and currently-ngs-nonreportable tags due to limitations in reporting SNVs in this gene. It needs to be confirmed whether variants in this gene can be reported in this test by the labs.
Fetal anomalies v6.193 SNAPIN Eleanor Williams Phenotypes for gene: SNAPIN were changed from neurodevelopmental disorder; Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393 to neurodevelopmental disorder; Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393; neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MONDO:0980710
Fetal anomalies v6.192 WSB2 Ida Ertmanska Phenotypes for gene: WSB2 were changed from neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; Luo-Agrawal neurodevelopmental syndrome, OMIM:621552 neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; Luo-Agrawal neurodevelopmental syndrome, OMIM:621552; neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.191 WSB2 Ida Ertmanska Phenotypes for gene: WSB2 were changed from neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; Luo-Agrawal neurodevelopmental syndrome, OMIM:621552 neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.189 WDHD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Foetal abnormalities were reported in 14 unrelated families with biallelic WDHD1 variants. Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v6.188 WDHD1 Achchuthan Shanmugasundram gene: WDHD1 was added
gene: WDHD1 was added to Fetal anomalies. Sources: Literature
Q2_26_promote_green tags were added to gene: WDHD1.
Mode of inheritance for gene: WDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDHD1 were set to 41962535
Phenotypes for gene: WDHD1 were set to microcephalic osteodysplastic primordial dwarfism, MONDO:0000060; Intrauterine growth retardation, HP:0001511
Review for gene: WDHD1 was set to GREEN
Added comment: PMID:41962535 (2026) reported the identification of biallelic hypomorphic variants in WDHD1 gene in 17 patients from 14 families with microcephalic primordial dwarfism (MPD) and a broad spectrum of additional abnormalities including acute liver failure. IUGR and/ or other foetal abnormalities such as microcephaly and oligohydramnios were reported in all cases. Four cases from three families had prenatal death or termination of pregnancy. There is also functional evidence available from patient-derived fibroblasts which supports the disease association.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype (records last accessed 14 April 2026).
Sources: Literature
Fetal anomalies v6.187 GTF3C3 Eleanor Williams Phenotypes for gene: GTF3C3 were changed from Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201 to Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201; neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MONDO:0978301
Fetal anomalies v6.186 PTBP1 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 10th Apr 2026.
Fetal anomalies v6.186 PTBP1 Ida Ertmanska Phenotypes for gene: PTBP1 were changed from neurodevelopmental disorder with skeletal dysplasia; Neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder with skeletal dysplasia; Neurodevelopmental disorder, MONDO:0700092; STAD syndrome, OMIM:621495
Fetal anomalies v6.184 FGFR1 Ida Ertmanska commented on gene: FGFR1: Comment on mode of inheritance: There are more than 3 individuals reported with biallelic FGFR1 variants and Hypogonadotropic hypogonadism. Individuals consistently presented with ectrodactyly, CC agenesis, and holoprosencephaly - disease features relevant to Fetal anomalies, as these would be detected on a prenatal scan. Hence, MOI should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next update.
Fetal anomalies v6.184 FGFR1 Ida Ertmanska Phenotypes for gene: FGFR1 were changed from IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; OSTEOGLOPHONIC DYSPLASIA; PFEIFFER SYNDROME; KALLMANN SYNDROME TYPE 2; Hartsfield syndrome; Encephalocraniocutaneous lipomatosis to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Hartsfield syndrome, OMIM:615465
Fetal anomalies v6.183 FGFR1 Ida Ertmanska changed review comment from: PMID: 27055092 Mazen et al., 2016
Male patient with congenital heart disease (CHD) and ambiguous genitalia, referred at 15 months. Consanguineous parents, positive family history for CHD. Trio WES revealed a homozygous FGFR1 c.1418G>A variant (hg38: c.1424G>A, p.Arg475Gln - rs747333248, 34 total alleles in gnomAD v4.1.0, no homozygotes). Patient also homozygous for a STARD3 p.Ala247Val mutation, no disease association reported for this gene. Ambiguous genitalia highlighted as unusual presentation in FGFR1-related disease.

PMID: 25394172 Villanueva et al., 2015
7 individuals with Congenital hypogonadotropic hypogonadism (CHH), 3/7 with anosmia, and 7/7 with split hand/foot malformation. The patients harboured FGFR1 variants - 6 heterozygous and 1 homozygous.
P1: male, homozygous for c.1286T>A, p.V429E. Heterozygous sister and parents. Sister has hyposmia, otherwise no phenotype reported in heterozygous family members.
In the 6 heterozygous pedigrees, CHH was an autosomal dominant trait with incomplete penetrance.

PMID: 23812909 Simonis et al., 2013
6 patients with Hartsfield syndrome and 1 female fetus with similar symptoms. FGFR1 variants were detected in the extracellular binding domain (two patients with homozygous mutations) or the intracellular tyrosine kinase domain (four heterozygous de novo variants). Patients presented with holoprosencephaly 7/7 (lobar, alobar, or semilobar), corpus callosum agenesis 5/7 (full or partial), ectrodactyly 7/7 (hands and/or feet affected), growth retardation 6/6, genital anomalies 3/6 (micropenis, cryptorchidism), DD/ID 6/6 (mild to severe). P1 was homozygous for L165S, heterozygous parents unaffected. P2 was homozygous for L191S, parents not available for testing.

PMID: 23154428 Jarzabek et al., 2012
5 Kallmann syndrome (KS) patients who carry FGFR1 mutations (Gly270Asp, Gly97Ser, Met161Thr, Ser685Phe and Ala167Ser/Ala167Ser). Patients 1-4 harboured de novo heterozygous FGFR1 mutations, while P5 was homozygous for the c.499G>T, p.Ala167Ser variant - his parents are sister are heterozygous and unaffected. All 5 patients had absent puberty, as well as hyposmia or anosmia. 3/5 patients presented with skeletal abnormalities and lip/palate malformations.
P5 (previously described in PMID: 12627230) had KS, cleft palate, corpus callosum agenesis, vertebral anomalies, unilateral fusion of fourth and fifth metacarpal bones, and bilateral oligodactyly of feet (four digits).

FGFR1 is associated with multiple dominant conditions in OMIM, including AD Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 and AD Hartsfield syndrome, OMIM:615465 (accessed 27th Feb 2026).; to: PMID: 27055092 Mazen et al., 2016
Male patient with congenital heart disease (CHD) and ambiguous genitalia, referred at 15 months. Consanguineous parents, positive family history for CHD. Trio WES revealed a homozygous FGFR1 c.1418G>A variant (hg38: c.1424G>A, p.Arg475Gln - rs747333248, 34 total alleles in gnomAD v4.1.0, no homozygotes). Patient also homozygous for a STARD3 p.Ala247Val mutation, no disease association reported for this gene. Ambiguous genitalia highlighted as unusual presentation in FGFR1-related disease.

PMID: 25394172 Villanueva et al., 2015
7 individuals with Congenital hypogonadotropic hypogonadism (CHH), 3/7 with anosmia, and 7/7 with split hand/foot malformation. The patients harboured FGFR1 variants - 6 heterozygous and 1 homozygous.
P1: male, homozygous for c.1286T>A, p.V429E. Heterozygous sister and parents. Sister has hyposmia, otherwise no phenotype reported in heterozygous family members.
In the 6 heterozygous pedigrees, CHH was an autosomal dominant trait with incomplete penetrance.

PMID: 23812909 Simonis et al., 2013
6 patients with Hartsfield syndrome and 1 female fetus with similar symptoms. FGFR1 variants were detected in the extracellular binding domain (two patients with homozygous mutations) or the intracellular tyrosine kinase domain (four heterozygous de novo variants). Patients presented with holoprosencephaly 7/7 (lobar, alobar, or semilobar), corpus callosum agenesis 5/7 (full or partial), ectrodactyly 7/7 (hands and/or feet affected), growth retardation 6/6, genital anomalies 3/6 (micropenis, cryptorchidism), DD/ID 6/6 (mild to severe). Fetal case (patient 7) had no FGFR1 mutation detected.


PMID: 23154428 Jarzabek et al., 2012
5 Kallmann syndrome (KS) patients who carry FGFR1 mutations (Gly270Asp, Gly97Ser, Met161Thr, Ser685Phe and Ala167Ser/Ala167Ser). Patients 1-4 harboured de novo heterozygous FGFR1 mutations, while P5 was homozygous for the c.499G>T, p.Ala167Ser variant - his parents are sister are heterozygous and unaffected. All 5 patients had absent puberty, as well as hyposmia or anosmia. 3/5 patients presented with skeletal abnormalities and lip/palate malformations.
P5 (previously described in PMID: 12627230) had KS, cleft palate, corpus callosum agenesis, vertebral anomalies, unilateral fusion of fourth and fifth metacarpal bones, and bilateral oligodactyly of feet (four digits).

FGFR1 is associated with multiple dominant conditions in OMIM, including AD Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 and AD Hartsfield syndrome, OMIM:615465 (accessed 27th Feb 2026).
Fetal anomalies v6.183 FGFR1 Ida Ertmanska reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23154428, 23812909, 25394172, 27055092; Phenotypes: Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Hartsfield syndrome, OMIM:615465; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.183 FSD1L Ida Ertmanska Added comment: Comment on list classification: There are at least three unrelated fetal cases reported in literature with biallelic FSD1L variants. Based on available evidence, FSD1L should be promoted to Green at the next update.
Fetal anomalies v6.181 ITCH Ludmila Volozonoka reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 36338154; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.181 KDM2B Ida Ertmanska Phenotypes for gene: KDM2B were changed from Neurodevelopmental disorder MONDO:0700092, KDM2B-related to Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, OMIM:621474
Fetal anomalies v6.179 IKZF2 Ida Ertmanska Phenotypes for gene: IKZF2 were changed from Immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay, OMIM:621234 to Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233; Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234
Fetal anomalies v6.175 TMEM17 Arina Puzriakova Phenotypes for gene: TMEM17 were changed from Ciliopathy to ciliopathy, MONDO:0005308
Fetal anomalies v6.171 RREB1 Arina Puzriakova Phenotypes for gene: RREB1 were changed from Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay to RASopathy, MONDO:0021060; Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay
Fetal anomalies v6.170 RNU7-1 Arina Puzriakova Phenotypes for gene: RNU7-1 were changed from Aicardi-Goutieres syndrome 9 OMIM:619487 to Aicardi-Goutieres syndrome 9, OMIM:619487; Type I interferonopathy
Fetal anomalies v6.167 SHROOM4 Arina Puzriakova Phenotypes for gene: SHROOM4 were changed from Abnormal corpus callosum; congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems; Stocco dos Santos X-linked mental retardation syndrome, 300434 to Abnormal corpus callosum; congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
Fetal anomalies v6.165 RSG1 Arina Puzriakova Phenotypes for gene: RSG1 were changed from ciliopathy to ciliopathy, MONDO:0005308
Fetal anomalies v6.163 RNU2-2P Arina Puzriakova Phenotypes for gene: RNU2-2P were changed from neurodevelopmental disorder to Developmental and epileptic encephalopathy 119, OMIM:621304
Fetal anomalies v6.159 PHF5A Arina Puzriakova Phenotypes for gene: PHF5A were changed from PHF5A-related neurodevelopmental disorder with congenital malformations to PHF5A-related neurodevelopmental disorder with congenital malformations; neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.158 ZNF865 Eleanor Williams Added comment: Comment on list classification: Promoting to amber with a recommendation of a green rating with a monoallelic MOI following GMS review.
Fetal anomalies v6.157 PTBP1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v6.157 LMNB2 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. The GMS reviewers noted as follows: Pathogenic monoallelic missense variants are causative of primary microcephaly. Homozygous loss-of-function variant reported in two related newborns with severe brain development abnormalities and perinatal death, phenotype consistent with Lmnb2-deficient mouse models (PMID:40011009). At least one further unrelated case is required to confirm an additional biallelic loss-of-function mechanism for LMNB2-related disease (mechanism of pathogenicity for monoallelic variants is uncertain).; to: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted.

The GMS reviewers noted as follows:
Pathogenic monoallelic missense variants are causative of primary microcephaly. Homozygous loss-of-function variant reported in two related newborns with severe brain development abnormalities and perinatal death, phenotype consistent with Lmnb2-deficient mouse models (PMID:40011009). At least one further unrelated case is required to confirm an additional biallelic loss-of-function mechanism for LMNB2-related disease (mechanism of pathogenicity for monoallelic variants is uncertain).
Fetal anomalies v6.157 GPKOW Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v6.157 GPKOW Achchuthan Shanmugasundram Deleted their comment
Fetal anomalies v6.157 EVC2 Achchuthan Shanmugasundram changed review comment from: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Heterozygous variants cause Weyers acrofacial dysostosis: dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Polydactyly detectable prenatally. Hence, monoallelic MOI should be added.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Heterozygous variants cause Weyers acrofacial dysostosis: dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Polydactyly detectable prenatally. Hence, monoallelic MOI should be added.
Fetal anomalies v6.157 MED12 Achchuthan Shanmugasundram changed review comment from: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Multiple reports of prenatal features in female pregnancies e.g. PMID:3970286; PMID:40884785,PMID:34987808.; to: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows: Multiple reports of prenatal features in female pregnancies e.g. PMID:3970286; PMID:40884785,PMID:34987808.
Fetal anomalies v6.157 LIFR Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains BIALLELIC, autosomal or pseudoautosomal. The GMS reviewers noted as follows: Biallelic LoF variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. Monoallelic variants are reported in association with CAKUT - de novo frameshift in one case with bilateral CAKUT and two rare missense variants in 3 further cases (PMID:28334964). Gene is not depleted for LoF variants and >50 variants that are classified as (likely) pathogenic in ClinVar are present in the heterozygous state in gnomAD. If there is a genuine association between monoallelic LoF variants and CAKUT, penetrance must be low. MOI should remain as biallelic only.; to: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains BIALLELIC, autosomal or pseudoautosomal.

The GMS reviewers noted as follows:
Biallelic LoF variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. Monoallelic variants are reported in association with CAKUT - de novo frameshift in one case with bilateral CAKUT and two rare missense variants in 3 further cases (PMID:28334964). Gene is not depleted for LoF variants and >50 variants that are classified as (likely) pathogenic in ClinVar are present in the heterozygous state in gnomAD. If there is a genuine association between monoallelic LoF variants and CAKUT, penetrance must be low. MOI should remain as biallelic only.
Fetal anomalies v6.157 SIX5 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Disputed by ClinGen and now red on most other panels. Variants in the literature have high frequency in gnomad.; to: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Disputed by ClinGen and now red on most other panels. Variants in the literature have high frequency in gnomad.
Fetal anomalies v6.157 PLD1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: ClinGen - definitive. Green on Aus panel. Fetal cases previously reported. It should be noted however that isolated cardiac is not an idication for R21 but there is one with abdominal effusions . It was downgraded due to downgrade on other panels so all should go green if fetal anomalies does.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
ClinGen - definitive. Green on Aus panel. Fetal cases previously reported. It should be noted however that isolated cardiac is not an idication for R21 but there is one with abdominal effusions . It was downgraded due to downgrade on other panels so all should go green if fetal anomalies does.
Fetal anomalies v6.157 LINC01082 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Deletions of LINC01081/LINC01082 cause same phenotype as variants in FOXF1, which is green on the fetal anomalies panel. No reports of sequence variants in LINC01081/LINC01082. Deletions may not be detectable by exome sequencing but gene should be added to panel in anticipation of WGS.; to: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Deletions of LINC01081/LINC01082 cause same phenotype as variants in FOXF1, which is green on the fetal anomalies panel. No reports of sequence variants in LINC01081/LINC01082. Deletions may not be detectable by exome sequencing but gene should be added to panel in anticipation of WGS.
Fetal anomalies v6.157 LINC01081 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Deletions of LINC01081/LINC01082 cause same phenotype as variants in FOXF1, which is green on the fetal anomalies panel. No reports of sequence variants in LINC01081/LINC01082. Deletions may not be detectable by exome sequencing but gene should be added to panel in anticipation of WGS.; to: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Deletions of LINC01081/LINC01082 cause same phenotype as variants in FOXF1, which is green on the fetal anomalies panel. No reports of sequence variants in LINC01081/LINC01082. Deletions may not be detectable by exome sequencing but gene should be added to panel in anticipation of WGS.
Fetal anomalies v6.157 KIAA0556 Achchuthan Shanmugasundram Deleted their comment
Fetal anomalies v6.157 EMX2 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Multiple patients reported in 1997 with schizencephaly and de novo EMX2 variants detected by targeted sequencing (PMID:9359037). However, subsequent sequencing studies in schizencephaly cohorts have not found any further cases (84 cases in PMID:17506092, 39 cases in PMID:18409201, 52 cases in PMID:20157829). Red on Australian PanelApp. Hence, the gene should be demoted from green rating.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Multiple patients reported in 1997 with schizencephaly and de novo EMX2 variants detected by targeted sequencing (PMID:9359037). However, subsequent sequencing studies in schizencephaly cohorts have not found any further cases (84 cases in PMID:17506092, 39 cases in PMID:18409201, 52 cases in PMID:20157829). Red on Australian PanelApp. Hence, the gene should be demoted from green rating.
Fetal anomalies v6.157 DISP1 Achchuthan Shanmugasundram changed review comment from: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Listed as both AD and AR in OMIM, with biallelic variants described as causal and monoallelic as a risk factor. PMID:38529886 - DISP1 monoallelic LoF or biallelic variants associated with minor forms of HPE (orofacial cleft, central incisor); in severe HPE, DISP1 variants occur together with a variant in another HPE gene. Green for monoallelic/biallelic on Australian panel.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Listed as both AD and AR in OMIM, with biallelic variants described as causal and monoallelic as a risk factor. PMID:38529886 - DISP1 monoallelic LoF or biallelic variants associated with minor forms of HPE (orofacial cleft, central incisor); in severe HPE, DISP1 variants occur together with a variant in another HPE gene. Green for monoallelic/biallelic on Australian panel.
Fetal anomalies v6.157 SIX5 Achchuthan Shanmugasundram reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 PTBP1 Achchuthan Shanmugasundram reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 PLD1 Achchuthan Shanmugasundram edited their review of gene: PLD1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: ClinGen - definitive. Green on Aus panel. Fetal cases previously reported. It should be noted however that isolated cardiac is not an idication for R21 but there is one with abdominal effusions . It was downgraded due to downgrade on other panels so all should go green if fetal anomalies does.; Changed rating: GREEN
Fetal anomalies v6.157 LINC01082 Achchuthan Shanmugasundram reviewed gene: LINC01082: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 LINC01081 Achchuthan Shanmugasundram reviewed gene: LINC01081: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 KIAA0556 Achchuthan Shanmugasundram edited their review of gene: KIAA0556: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.157 GPKOW Achchuthan Shanmugasundram reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 EMX2 Achchuthan Shanmugasundram reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.156 MYH3 Achchuthan Shanmugasundram Source NHS GMS was added to MYH3.
Mode of inheritance for gene MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.156 MED12 Achchuthan Shanmugasundram Source NHS GMS was added to MED12.
Mode of inheritance for gene MED12 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v6.156 EVC2 Achchuthan Shanmugasundram Source NHS GMS was added to EVC2.
Mode of inheritance for gene EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.156 DISP1 Achchuthan Shanmugasundram Source NHS GMS was added to DISP1.
Mode of inheritance for gene DISP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.154 RNU2-2P Arina Puzriakova commented on gene: RNU2-2P: The new-gene-name tag has been added as the latest HGNC symbol is RNU2-2.
Fetal anomalies v6.153 CLCNKB Arina Puzriakova commented on gene: CLCNKB: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). The literature indicates that CLCNKB variants in patients are typically biallelic. While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.
Fetal anomalies v6.152 CLCNKA Arina Puzriakova changed review comment from: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.; to: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). The literature indicates that CLCNKA variants in patients are typically biallelic. While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.
Fetal anomalies v6.152 CLCNKA Arina Puzriakova commented on gene: CLCNKA: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.
Fetal anomalies v6.152 TRIO Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, OMIM:618825 for gene: TRIO
Fetal anomalies v6.152 SHROOM4 Arina Puzriakova Added phenotypes congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems for gene: SHROOM4
Fetal anomalies v6.152 PLXNA1 Arina Puzriakova Added phenotypes Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955 for gene: PLXNA1
Fetal anomalies v6.152 CHD8 Arina Puzriakova Added phenotypes Intellectual developmental disorder with autism and macrocephaly, OMIM:615032 for gene: CHD8
Fetal anomalies v6.152 PPP1R13L Arina Puzriakova Added phenotypes Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519 for gene: PPP1R13L
Fetal anomalies v6.152 PIGU Arina Puzriakova Added phenotypes Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590 for gene: PIGU
Fetal anomalies v6.152 PIGK Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, OMIM:618879 for gene: PIGK
Fetal anomalies v6.152 PIGB Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 80, OMIM:618580 for gene: PIGB
Fetal anomalies v6.152 VPS50 Arina Puzriakova Added phenotypes neurodevelopmental disorder with microcephaly, seizures and neonatal cholestasis, OMIM:619685 for gene: VPS50
Fetal anomalies v6.152 TUBGCP2 Arina Puzriakova Added phenotypes Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737 for gene: TUBGCP2
Fetal anomalies v6.152 DHX37 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, OMIM:618731 for gene: DHX37
Fetal anomalies v6.152 PATJ Arina Puzriakova Added phenotypes ciliopathy for gene: PATJ
Fetal anomalies v6.152 MNS1 Arina Puzriakova Added phenotypes Heterotaxy, visceral, 9, autosomal, with male infertility (Autosomal recessive) for gene: MNS1
Fetal anomalies v6.152 CCP110 Arina Puzriakova Added phenotypes ciliopathy for gene: CCP110
Fetal anomalies v6.152 PLXNB3 Arina Puzriakova Added phenotypes congenital heart disease with neurodevelopmental disabilities for gene: PLXNB3
Fetal anomalies v6.152 FBXO11 Arina Puzriakova Added phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089 for gene: FBXO11
Fetal anomalies v6.152 ADAT3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286 for gene: ADAT3
Fetal anomalies v6.152 ADAMTS13 Arina Puzriakova Added phenotypes Hereditary thrombotic thrombocytopenic purpura, OMIM:274150 for gene: ADAMTS13
Fetal anomalies v6.152 ABI2 Arina Puzriakova Added phenotypes Intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities for gene: ABI2
Fetal anomalies v6.152 RHOBTB2 Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 64, OMIM:618004 for gene: RHOBTB2
Fetal anomalies v6.152 RALGAPA1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, OMIM:618797 for gene: RALGAPA1
Fetal anomalies v6.152 PPP1R21 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, OMIM:619383 for gene: PPP1R21
Fetal anomalies v6.152 ZPR1 Arina Puzriakova Added phenotypes Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 for gene: ZPR1
Fetal anomalies v6.152 ZNF668 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194 for gene: ZNF668
Fetal anomalies v6.152 CACHD1 Arina Puzriakova Added phenotypes Neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities for gene: CACHD1
Fetal anomalies v6.152 SATB1 Arina Puzriakova Added phenotypes Developmental delay with dysmorphic facies and dental anomalies, OMIM:619228 for gene: SATB1
Fetal anomalies v6.152 SART3 Arina Puzriakova Added phenotypes Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY Gonadal dysgenesis for gene: SART3
Fetal anomalies v6.152 RNF13 Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 73, OMIM:618379 for gene: RNF13
Fetal anomalies v6.152 SELENON Arina Puzriakova Added phenotypes Congenital myopathy 3 with rigid spine; OMIM:602771 for gene: SELENON
Fetal anomalies v6.152 CAMSAP1 Arina Puzriakova Added phenotypes Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316 for gene: CAMSAP1
Fetal anomalies v6.152 CEP162 Arina Puzriakova Added phenotypes ciliopathy for gene: CEP162
Fetal anomalies v6.152 LINC01578 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, OMIM:621012 for gene: LINC01578
Fetal anomalies v6.152 PTBP1 Arina Puzriakova Added phenotypes neurodevelopmental disorder with skeletal dysplasia for gene: PTBP1
Fetal anomalies v6.152 PDIA6 Arina Puzriakova Added phenotypes Polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay for gene: PDIA6
Fetal anomalies v6.152 TH Arina Puzriakova Added phenotypes Segawa syndrome, recessive, OMIM:605407 for gene: TH
Fetal anomalies v6.152 THUMPD1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989 for gene: THUMPD1
Fetal anomalies v6.152 SOX4 Arina Puzriakova Added phenotypes Intellectual developmental disorder with speech delay and dysmorphic facies, OMIM:618506 for gene: SOX4
Fetal anomalies v6.152 RSG1 Arina Puzriakova Added phenotypes ciliopathy for gene: RSG1
Fetal anomalies v6.152 WSB2 Arina Puzriakova Added phenotypes neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly for gene: WSB2
Fetal anomalies v6.152 TMEM17 Arina Puzriakova Added phenotypes Ciliopathy for gene: TMEM17
Fetal anomalies v6.152 RREB1 Arina Puzriakova Added phenotypes Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay for gene: RREB1
Fetal anomalies v6.152 GPKOW Arina Puzriakova Added phenotypes Intrauterine growth restriction, microcephaly/microencephaly, and eye, brain, skin, and skeletal abnormalities for gene: GPKOW
Fetal anomalies v6.152 MYLPF Arina Puzriakova Added phenotypes Arthrogryposis, distal, type 1C, OMIM:617378 for gene: MYLPF
Fetal anomalies v6.152 LMOD2 Arina Puzriakova Added phenotypes Cardiomyopathy, dilated, 2G, OMIM:619897 for gene: LMOD2
Fetal anomalies v6.152 NUDCD2 Arina Puzriakova Added phenotypes multiple malformation syndrome with cholestasis and renal failure for gene: NUDCD2
Fetal anomalies v6.152 PURA Arina Puzriakova Added phenotypes Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, OMIM:616158 for gene: PURA
Fetal anomalies v6.152 NOVA2 Arina Puzriakova Added phenotypes neurodevelopmental disorder with hypotonia, neurological features, and brain abnormalities for gene: NOVA2
Fetal anomalies v6.152 PACSIN3 Arina Puzriakova Added phenotypes Congenital myopathy 27, OMIM:621343 for gene: PACSIN3
Fetal anomalies v6.152 LEF1 Arina Puzriakova Added phenotypes Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224 for gene: LEF1
Fetal anomalies v6.152 LDB3 Arina Puzriakova Added phenotypes Dilated cardiomyopathy for gene: LDB3
Fetal anomalies v6.152 IKZF2 Arina Puzriakova Added phenotypes Immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay, OMIM:621234 for gene: IKZF2
Fetal anomalies v6.152 GTF3C3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201 for gene: GTF3C3
Fetal anomalies v6.152 FGF4 Arina Puzriakova Added phenotypes Short-rib thoracic dysplasia 22 without polydactyly, OMIM:621260 for gene: FGF4
Fetal anomalies v6.152 FEM1B Arina Puzriakova Added phenotypes Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539 for gene: FEM1B
Fetal anomalies v6.152 FBXO28 Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 100, OMIM:619777 for gene: FBXO28
Fetal anomalies v6.152 EMC10 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264 for gene: EMC10
Fetal anomalies v6.152 EIF4A2 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, OMIM:620455 for gene: EIF4A2
Fetal anomalies v6.152 DPH5 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070 for gene: DPH5
Fetal anomalies v6.152 DHPS Arina Puzriakova Added phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment, OMIM:618480 for gene: DHPS
Fetal anomalies v6.152 ADAMTS9 Arina Puzriakova Added phenotypes ciliopathy for gene: ADAMTS9
Fetal anomalies v6.152 HNRNPH1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083 for gene: HNRNPH1
Fetal anomalies v6.152 HNRNPR Arina Puzriakova Added phenotypes Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073 for gene: HNRNPR
Fetal anomalies v6.152 CLCN3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 for gene: CLCN3
Fetal anomalies v6.152 ATP6V0A1 Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 104, OMIM:619970; Neurodevelopmental disorder with epilepsy and brain atrophy, OMIM:619971 for gene: ATP6V0A1
Fetal anomalies v6.152 HACD1 Arina Puzriakova Added phenotypes Congenital myopathy 11, OMIM:619967 for gene: HACD1
Fetal anomalies v6.152 FIBP Arina Puzriakova Added phenotypes Thauvin-Robinet-Faivre syndrome, OMIM:617107 for gene: FIBP
Fetal anomalies v6.152 MAST1 Arina Puzriakova Added phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:618273 for gene: MAST1
Fetal anomalies v6.152 MAPK8IP3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443 for gene: MAPK8IP3
Fetal anomalies v6.152 LRRC32 Arina Puzriakova Added phenotypes Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619047 for gene: LRRC32
Fetal anomalies v6.152 DDR1 Arina Puzriakova Added phenotypes Chondrodysplasia with multiple dislocations for gene: DDR1
Fetal anomalies v6.151 ZNF865 Ida Ertmanska gene: ZNF865 was added
gene: ZNF865 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ZNF865 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF865 were set to 40936200
Phenotypes for gene: ZNF865 were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: ZNF865 was set to GREEN
Added comment: PMID: 40936200 Bradbrook et al., 2025 Report of 18 unrelated individuals (Caucasian / Latino ethnicity) with developmental delay and shared dysmorphic features, harbouring heterozygous variants in ZNF865. Method: WGS / WES. Majority described as severely delayed, with speech delay and moderate to severe learning difficulties; avg age of walking = 24 months, 9/18 patients presented with hypotonia, 1 patient diagnosed with epilepsy, 9/15 had digit anomalies. On MRI, 8/14 patients had brain abnormalities, including hypoplasia of corpus callosum and ventriculomegaly - may be detected prenatally?. Shared dysmorphic features: broad nasal bridge, hypertelorism, low-set ears. 14 unique variants (nonsense of frameshift) were detected, mostly towards the C-terminus. Variants were confirmed as de novo in 15 individuals.
This gene is not yet linked to any phenotype in OMIM (accessed 30th Dec 2025).
Sources: Literature
Fetal anomalies v6.150 SGCG Arina Puzriakova edited their review of gene: SGCG: Changed rating: RED
Fetal anomalies v6.150 ACVR2B Arina Puzriakova edited their review of gene: ACVR2B: Changed rating: RED
Fetal anomalies v6.150 ZPR1 Arina Puzriakova edited their review of gene: ZPR1: Changed rating: GREEN
Fetal anomalies v6.150 ZNF668 Arina Puzriakova edited their review of gene: ZNF668: Changed rating: GREEN
Fetal anomalies v6.150 ZBTB7A Arina Puzriakova edited their review of gene: ZBTB7A: Changed rating: GREEN
Fetal anomalies v6.150 YY1AP1 Arina Puzriakova edited their review of gene: YY1AP1: Changed rating: GREEN
Fetal anomalies v6.150 WNK3 Arina Puzriakova edited their review of gene: WNK3: Changed rating: GREEN
Fetal anomalies v6.150 VPS51 Arina Puzriakova edited their review of gene: VPS51: Changed rating: GREEN
Fetal anomalies v6.150 VPS50 Arina Puzriakova edited their review of gene: VPS50: Changed rating: GREEN
Fetal anomalies v6.150 VPS33A Arina Puzriakova edited their review of gene: VPS33A: Changed rating: GREEN
Fetal anomalies v6.150 UGGT1 Arina Puzriakova edited their review of gene: UGGT1: Changed rating: GREEN
Fetal anomalies v6.150 TTC26 Arina Puzriakova edited their review of gene: TTC26: Changed rating: GREEN
Fetal anomalies v6.150 TPRKB Arina Puzriakova edited their review of gene: TPRKB: Changed rating: GREEN
Fetal anomalies v6.150 TP53RK Arina Puzriakova edited their review of gene: TP53RK: Changed rating: GREEN
Fetal anomalies v6.150 TMEM251 Arina Puzriakova edited their review of gene: TMEM251: Changed rating: GREEN
Fetal anomalies v6.150 TMEM17 Arina Puzriakova edited their review of gene: TMEM17: Changed rating: GREEN
Fetal anomalies v6.150 TMEM167A Arina Puzriakova edited their review of gene: TMEM167A: Changed rating: GREEN
Fetal anomalies v6.150 THUMPD1 Arina Puzriakova edited their review of gene: THUMPD1: Changed rating: GREEN
Fetal anomalies v6.150 TASP1 Arina Puzriakova edited their review of gene: TASP1: Changed rating: GREEN
Fetal anomalies v6.150 SOX4 Arina Puzriakova edited their review of gene: SOX4: Changed rating: GREEN
Fetal anomalies v6.150 SMG8 Arina Puzriakova edited their review of gene: SMG8: Changed rating: GREEN
Fetal anomalies v6.150 SMC5 Arina Puzriakova edited their review of gene: SMC5: Changed rating: GREEN
Fetal anomalies v6.150 SMARCC2 Arina Puzriakova edited their review of gene: SMARCC2: Changed rating: GREEN
Fetal anomalies v6.150 SLF2 Arina Puzriakova edited their review of gene: SLF2: Changed rating: GREEN
Fetal anomalies v6.150 SLC5A6 Arina Puzriakova edited their review of gene: SLC5A6: Changed rating: GREEN
Fetal anomalies v6.150 SKOR2 Arina Puzriakova edited their review of gene: SKOR2: Changed rating: GREEN
Fetal anomalies v6.150 SIX2 Arina Puzriakova edited their review of gene: SIX2: Changed rating: GREEN
Fetal anomalies v6.150 SCNM1 Arina Puzriakova edited their review of gene: SCNM1: Changed rating: GREEN
Fetal anomalies v6.150 SATB1 Arina Puzriakova edited their review of gene: SATB1: Changed rating: GREEN
Fetal anomalies v6.150 SART3 Arina Puzriakova edited their review of gene: SART3: Changed rating: GREEN
Fetal anomalies v6.150 RSG1 Arina Puzriakova edited their review of gene: RSG1: Changed rating: GREEN
Fetal anomalies v6.150 RNU7-1 Arina Puzriakova edited their review of gene: RNU7-1: Changed rating: GREEN
Fetal anomalies v6.150 RHOBTB2 Arina Puzriakova edited their review of gene: RHOBTB2: Changed rating: GREEN
Fetal anomalies v6.150 RBBP5 Arina Puzriakova edited their review of gene: RBBP5: Changed rating: GREEN
Fetal anomalies v6.150 RALGAPA1 Arina Puzriakova edited their review of gene: RALGAPA1: Changed rating: GREEN
Fetal anomalies v6.150 RALA Arina Puzriakova edited their review of gene: RALA: Changed rating: GREEN
Fetal anomalies v6.150 PRKCI Arina Puzriakova edited their review of gene: PRKCI: Changed rating: GREEN
Fetal anomalies v6.150 PPP1R21 Arina Puzriakova edited their review of gene: PPP1R21: Changed rating: GREEN
Fetal anomalies v6.150 PLXNA1 Arina Puzriakova edited their review of gene: PLXNA1: Changed rating: GREEN
Fetal anomalies v6.150 PIGU Arina Puzriakova edited their review of gene: PIGU: Changed rating: GREEN
Fetal anomalies v6.150 PIGK Arina Puzriakova edited their review of gene: PIGK: Changed rating: GREEN
Fetal anomalies v6.150 PIGB Arina Puzriakova edited their review of gene: PIGB: Changed rating: GREEN
Fetal anomalies v6.150 PDIA6 Arina Puzriakova edited their review of gene: PDIA6: Changed rating: GREEN
Fetal anomalies v6.150 NUP133 Arina Puzriakova edited their review of gene: NUP133: Changed rating: GREEN
Fetal anomalies v6.150 NR6A1 Arina Puzriakova edited their review of gene: NR6A1: Changed rating: GREEN
Fetal anomalies v6.150 MYLPF Arina Puzriakova edited their review of gene: MYLPF: Changed rating: GREEN
Fetal anomalies v6.150 LSM1 Arina Puzriakova edited their review of gene: LSM1: Changed rating: GREEN
Fetal anomalies v6.150 LRRC32 Arina Puzriakova edited their review of gene: LRRC32: Changed rating: GREEN
Fetal anomalies v6.150 LMOD2 Arina Puzriakova edited their review of gene: LMOD2: Changed rating: GREEN
Fetal anomalies v6.150 LEF1 Arina Puzriakova edited their review of gene: LEF1: Changed rating: GREEN
Fetal anomalies v6.150 KDM4B Arina Puzriakova edited their review of gene: KDM4B: Changed rating: GREEN
Fetal anomalies v6.150 INPP4A Arina Puzriakova edited their review of gene: INPP4A: Changed rating: GREEN
Fetal anomalies v6.150 IL6ST Arina Puzriakova edited their review of gene: IL6ST: Changed rating: GREEN
Fetal anomalies v6.150 IFT57 Arina Puzriakova edited their review of gene: IFT57: Changed rating: GREEN
Fetal anomalies v6.150 HNRNPR Arina Puzriakova edited their review of gene: HNRNPR: Changed rating: GREEN
Fetal anomalies v6.150 HNRNPH1 Arina Puzriakova edited their review of gene: HNRNPH1: Changed rating: GREEN
Fetal anomalies v6.150 HERC2 Arina Puzriakova edited their review of gene: HERC2: Changed rating: GREEN
Fetal anomalies v6.150 H3F3B Arina Puzriakova edited their review of gene: H3F3B: Changed rating: GREEN
Fetal anomalies v6.150 GTF3C3 Arina Puzriakova edited their review of gene: GTF3C3: Changed rating: GREEN
Fetal anomalies v6.150 GON7 Arina Puzriakova edited their review of gene: GON7: Changed rating: GREEN
Fetal anomalies v6.150 GINS3 Arina Puzriakova edited their review of gene: GINS3: Changed rating: GREEN
Fetal anomalies v6.150 FGF4 Arina Puzriakova edited their review of gene: FGF4: Changed rating: GREEN
Fetal anomalies v6.150 FEM1B Arina Puzriakova edited their review of gene: FEM1B: Changed rating: GREEN
Fetal anomalies v6.150 FBXW7 Arina Puzriakova edited their review of gene: FBXW7: Changed rating: GREEN
Fetal anomalies v6.150 FBXO28 Arina Puzriakova edited their review of gene: FBXO28: Changed rating: GREEN
Fetal anomalies v6.150 EMC10 Arina Puzriakova edited their review of gene: EMC10: Changed rating: GREEN
Fetal anomalies v6.150 EIF4A2 Arina Puzriakova edited their review of gene: EIF4A2: Changed rating: GREEN
Fetal anomalies v6.150 DPH5 Arina Puzriakova edited their review of gene: DPH5: Changed rating: GREEN
Fetal anomalies v6.150 DOT1L Arina Puzriakova edited their review of gene: DOT1L: Changed rating: GREEN
Fetal anomalies v6.150 CSDE1 Arina Puzriakova edited their review of gene: CSDE1: Changed rating: GREEN
Fetal anomalies v6.150 CLCNKA Arina Puzriakova edited their review of gene: CLCNKA: Changed rating: GREEN
Fetal anomalies v6.150 CLCN3 Arina Puzriakova edited their review of gene: CLCN3: Changed rating: GREEN
Fetal anomalies v6.150 CEP76 Arina Puzriakova edited their review of gene: CEP76: Changed rating: GREEN
Fetal anomalies v6.150 CDC42BPB Arina Puzriakova edited their review of gene: CDC42BPB: Changed rating: GREEN
Fetal anomalies v6.150 CDC42 Arina Puzriakova edited their review of gene: CDC42: Changed rating: GREEN
Fetal anomalies v6.150 CCDC88A Arina Puzriakova edited their review of gene: CCDC88A: Changed rating: GREEN
Fetal anomalies v6.150 CCDC32 Arina Puzriakova edited their review of gene: CCDC32: Changed rating: GREEN
Fetal anomalies v6.150 CBFB Arina Puzriakova edited their review of gene: CBFB: Changed rating: GREEN
Fetal anomalies v6.150 CAMSAP1 Arina Puzriakova edited their review of gene: CAMSAP1: Changed rating: GREEN
Fetal anomalies v6.150 BRF2 Arina Puzriakova edited their review of gene: BRF2: Changed rating: GREEN
Fetal anomalies v6.150 BBIP1 Arina Puzriakova edited their review of gene: BBIP1: Changed rating: GREEN
Fetal anomalies v6.150 ARF3 Arina Puzriakova edited their review of gene: ARF3: Changed rating: GREEN
Fetal anomalies v6.150 ADAT3 Arina Puzriakova edited their review of gene: ADAT3: Changed rating: GREEN
Fetal anomalies v6.150 ABI2 Arina Puzriakova edited their review of gene: ABI2: Changed rating: GREEN
Fetal anomalies v6.150 YRDC Arina Puzriakova edited their review of gene: YRDC: Changed rating: GREEN
Fetal anomalies v6.150 WSB2 Arina Puzriakova edited their review of gene: WSB2: Changed rating: GREEN
Fetal anomalies v6.150 WDR91 Arina Puzriakova edited their review of gene: WDR91: Changed rating: GREEN
Fetal anomalies v6.150 TUBGCP2 Arina Puzriakova edited their review of gene: TUBGCP2: Changed rating: GREEN
Fetal anomalies v6.150 TRIO Arina Puzriakova edited their review of gene: TRIO: Changed rating: GREEN
Fetal anomalies v6.150 SHROOM4 Arina Puzriakova edited their review of gene: SHROOM4: Changed rating: GREEN
Fetal anomalies v6.150 SELENON Arina Puzriakova edited their review of gene: SELENON: Changed rating: GREEN
Fetal anomalies v6.150 PDCD2 Arina Puzriakova edited their review of gene: PDCD2: Changed rating: GREEN
Fetal anomalies v6.150 NOVA2 Arina Puzriakova edited their review of gene: NOVA2: Changed rating: GREEN
Fetal anomalies v6.150 MAST1 Arina Puzriakova edited their review of gene: MAST1: Changed rating: GREEN
Fetal anomalies v6.150 MAPK8IP3 Arina Puzriakova edited their review of gene: MAPK8IP3: Changed rating: GREEN
Fetal anomalies v6.150 KIAA0556 Arina Puzriakova edited their review of gene: KIAA0556: Changed rating: GREEN
Fetal anomalies v6.150 KCNJ8 Arina Puzriakova edited their review of gene: KCNJ8: Changed rating: GREEN
Fetal anomalies v6.150 HMGB1 Arina Puzriakova edited their review of gene: HMGB1: Changed rating: GREEN
Fetal anomalies v6.150 GPKOW Arina Puzriakova edited their review of gene: GPKOW: Changed rating: GREEN
Fetal anomalies v6.150 GATAD2B Arina Puzriakova edited their review of gene: GATAD2B: Changed rating: GREEN
Fetal anomalies v6.150 FOXI3 Arina Puzriakova edited their review of gene: FOXI3: Changed rating: GREEN
Fetal anomalies v6.150 CLCNKB Arina Puzriakova edited their review of gene: CLCNKB: Changed rating: GREEN
Fetal anomalies v6.150 CACHD1 Arina Puzriakova edited their review of gene: CACHD1: Changed rating: GREEN
Fetal anomalies v6.150 BRF1 Arina Puzriakova edited their review of gene: BRF1: Changed rating: GREEN
Fetal anomalies v6.150 B9D1 Arina Puzriakova edited their review of gene: B9D1: Changed rating: GREEN
Fetal anomalies v6.150 ASXL2 Arina Puzriakova edited their review of gene: ASXL2: Changed rating: GREEN
Fetal anomalies v6.150 ANKLE2 Arina Puzriakova edited their review of gene: ANKLE2: Changed rating: GREEN
Fetal anomalies v6.150 ACVR1 Arina Puzriakova edited their review of gene: ACVR1: Changed rating: GREEN
Fetal anomalies v6.149 SGCG Arina Puzriakova commented on gene: SGCG: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ACVR2B Arina Puzriakova commented on gene: ACVR2B: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ZPR1 Arina Puzriakova commented on gene: ZPR1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ZNF668 Arina Puzriakova commented on gene: ZNF668: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ZBTB7A Arina Puzriakova commented on gene: ZBTB7A: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 YY1AP1 Arina Puzriakova commented on gene: YY1AP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 WNK3 Arina Puzriakova commented on gene: WNK3: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 VPS51 Arina Puzriakova commented on gene: VPS51: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 VPS50 Arina Puzriakova commented on gene: VPS50: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 VPS33A Arina Puzriakova commented on gene: VPS33A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 UGGT1 Arina Puzriakova commented on gene: UGGT1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TTC26 Arina Puzriakova commented on gene: TTC26: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TPRKB Arina Puzriakova commented on gene: TPRKB: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TP53RK Arina Puzriakova commented on gene: TP53RK: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TMEM251 Arina Puzriakova commented on gene: TMEM251: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TMEM17 Arina Puzriakova commented on gene: TMEM17: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TMEM167A Arina Puzriakova commented on gene: TMEM167A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 THUMPD1 Arina Puzriakova commented on gene: THUMPD1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TASP1 Arina Puzriakova commented on gene: TASP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SOX4 Arina Puzriakova commented on gene: SOX4: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SMG8 Arina Puzriakova commented on gene: SMG8: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SMC5 Arina Puzriakova commented on gene: SMC5: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SMARCC2 Arina Puzriakova commented on gene: SMARCC2: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SLF2 Arina Puzriakova commented on gene: SLF2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SLC5A6 Arina Puzriakova commented on gene: SLC5A6: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SKOR2 Arina Puzriakova commented on gene: SKOR2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SIX2 Arina Puzriakova commented on gene: SIX2: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SCNM1 Arina Puzriakova commented on gene: SCNM1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SATB1 Arina Puzriakova commented on gene: SATB1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SART3 Arina Puzriakova commented on gene: SART3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RSG1 Arina Puzriakova commented on gene: RSG1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RNU7-1 Arina Puzriakova commented on gene: RNU7-1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RHOBTB2 Arina Puzriakova commented on gene: RHOBTB2: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RBBP5 Arina Puzriakova commented on gene: RBBP5: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RALGAPA1 Arina Puzriakova commented on gene: RALGAPA1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RALA Arina Puzriakova commented on gene: RALA: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PRKCI Arina Puzriakova commented on gene: PRKCI: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PRDM13 Arina Puzriakova commented on gene: PRDM13: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PPP1R21 Arina Puzriakova commented on gene: PPP1R21: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PLXNA1 Arina Puzriakova commented on gene: PLXNA1: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PIGU Arina Puzriakova commented on gene: PIGU: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PIGK Arina Puzriakova commented on gene: PIGK: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PIGB Arina Puzriakova commented on gene: PIGB: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PDIA6 Arina Puzriakova commented on gene: PDIA6: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 NUP133 Arina Puzriakova commented on gene: NUP133: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 NR6A1 Arina Puzriakova commented on gene: NR6A1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 MYLPF Arina Puzriakova commented on gene: MYLPF: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 LSM1 Arina Puzriakova commented on gene: LSM1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 LRRC32 Arina Puzriakova commented on gene: LRRC32: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 LMOD2 Arina Puzriakova commented on gene: LMOD2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 LEF1 Arina Puzriakova commented on gene: LEF1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 KDM4B Arina Puzriakova commented on gene: KDM4B: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 INPP4A Arina Puzriakova commented on gene: INPP4A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 IL6ST Arina Puzriakova commented on gene: IL6ST: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 IFT57 Arina Puzriakova commented on gene: IFT57: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 HNRNPR Arina Puzriakova commented on gene: HNRNPR: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 HNRNPH1 Arina Puzriakova commented on gene: HNRNPH1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 HERC2 Arina Puzriakova commented on gene: HERC2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 H3F3B Arina Puzriakova commented on gene: H3F3B: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GTF3C3 Arina Puzriakova commented on gene: GTF3C3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GON7 Arina Puzriakova commented on gene: GON7: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GINS3 Arina Puzriakova commented on gene: GINS3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FGF4 Arina Puzriakova commented on gene: FGF4: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FEM1B Arina Puzriakova commented on gene: FEM1B: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FBXW7 Arina Puzriakova commented on gene: FBXW7: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FBXO28 Arina Puzriakova commented on gene: FBXO28: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 EMC10 Arina Puzriakova commented on gene: EMC10: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 EIF4A2 Arina Puzriakova commented on gene: EIF4A2: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 DPH5 Arina Puzriakova commented on gene: DPH5: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 DOT1L Arina Puzriakova commented on gene: DOT1L: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 DHX37 Arina Puzriakova commented on gene: DHX37: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CSDE1 Arina Puzriakova commented on gene: CSDE1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CLCNKA Arina Puzriakova commented on gene: CLCNKA: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CLCN3 Arina Puzriakova commented on gene: CLCN3: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CEP76 Arina Puzriakova commented on gene: CEP76: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CDC42BPB Arina Puzriakova commented on gene: CDC42BPB: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CDC42 Arina Puzriakova commented on gene: CDC42: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CCDC88A Arina Puzriakova commented on gene: CCDC88A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CCDC32 Arina Puzriakova commented on gene: CCDC32: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CBFB Arina Puzriakova commented on gene: CBFB: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CAMSAP1 Arina Puzriakova commented on gene: CAMSAP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 BRF2 Arina Puzriakova commented on gene: BRF2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 BBIP1 Arina Puzriakova commented on gene: BBIP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ARF3 Arina Puzriakova commented on gene: ARF3: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ADAT3 Arina Puzriakova commented on gene: ADAT3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ABI2 Arina Puzriakova commented on gene: ABI2: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 YRDC Arina Puzriakova commented on gene: YRDC: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 WSB2 Arina Puzriakova commented on gene: WSB2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 WDR91 Arina Puzriakova commented on gene: WDR91: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TUBGCP2 Arina Puzriakova commented on gene: TUBGCP2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TRIO Arina Puzriakova commented on gene: TRIO: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SNAPIN Arina Puzriakova commented on gene: SNAPIN: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SHROOM4 Arina Puzriakova commented on gene: SHROOM4: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SELENON Arina Puzriakova commented on gene: SELENON: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PTBP1 Arina Puzriakova commented on gene: PTBP1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PPP1R12A Arina Puzriakova commented on gene: PPP1R12A: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PDCD2 Arina Puzriakova commented on gene: PDCD2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 NSD2 Arina Puzriakova commented on gene: NSD2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 NOVA2 Arina Puzriakova commented on gene: NOVA2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 MNS1 Arina Puzriakova commented on gene: MNS1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 MAST1 Arina Puzriakova commented on gene: MAST1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 MAPK8IP3 Arina Puzriakova commented on gene: MAPK8IP3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 KIAA0556 Arina Puzriakova commented on gene: KIAA0556: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 KCNJ8 Arina Puzriakova commented on gene: KCNJ8: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 HMGB1 Arina Puzriakova commented on gene: HMGB1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GPKOW Arina Puzriakova commented on gene: GPKOW: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GATAD2B Arina Puzriakova commented on gene: GATAD2B: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FOXI3 Arina Puzriakova commented on gene: FOXI3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 EXOSC9 Arina Puzriakova commented on gene: EXOSC9: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CLCNKB Arina Puzriakova commented on gene: CLCNKB: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CACHD1 Arina Puzriakova commented on gene: CACHD1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 BRF1 Arina Puzriakova commented on gene: BRF1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 B9D1 Arina Puzriakova commented on gene: B9D1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ASXL2 Arina Puzriakova commented on gene: ASXL2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ANKLE2 Arina Puzriakova commented on gene: ANKLE2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ACVR1 Arina Puzriakova commented on gene: ACVR1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.148 WDR91 Arina Puzriakova commented on gene: WDR91: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 THUMPD1 Arina Puzriakova commented on gene: THUMPD1
Fetal anomalies v6.148 TH Arina Puzriakova commented on gene: TH
Fetal anomalies v6.148 SNAPIN Arina Puzriakova commented on gene: SNAPIN: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 SHROOM4 Arina Puzriakova commented on gene: SHROOM4: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 SGCG Arina Puzriakova commented on gene: SGCG: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 RNU5A-1 Arina Puzriakova commented on gene: RNU5A-1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PURA Arina Puzriakova commented on gene: PURA: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PTBP1 Arina Puzriakova commented on gene: PTBP1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PRDM13 Arina Puzriakova commented on gene: PRDM13: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PPP1R12A Arina Puzriakova commented on gene: PPP1R12A: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PLXNB3 Arina Puzriakova commented on gene: PLXNB3: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PLOD3 Arina Puzriakova commented on gene: PLOD3: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PDCD2 Arina Puzriakova commented on gene: PDCD2: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PCLO Arina Puzriakova commented on gene: PCLO: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PATJ Arina Puzriakova commented on gene: PATJ: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 NSD2 Arina Puzriakova commented on gene: NSD2: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 MNS1 Arina Puzriakova commented on gene: MNS1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 LINC01578 Arina Puzriakova commented on gene: LINC01578: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 KIAA0556 Arina Puzriakova commented on gene: KIAA0556: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 GNPNAT1 Arina Puzriakova commented on gene: GNPNAT1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 FBXO11 Arina Puzriakova commented on gene: FBXO11: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 EXOSC9 Arina Puzriakova commented on gene: EXOSC9: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 EXOSC1 Arina Puzriakova commented on gene: EXOSC1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 EDA Arina Puzriakova commented on gene: EDA: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 DHX37 Arina Puzriakova commented on gene: DHX37: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 CDH11 Arina Puzriakova commented on gene: CDH11: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 CDC40 Arina Puzriakova commented on gene: CDC40: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 CCT8 Arina Puzriakova commented on gene: CCT8: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 CCP110 Arina Puzriakova commented on gene: CCP110: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 B9D1 Arina Puzriakova commented on gene: B9D1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 ARHGEF17 Arina Puzriakova commented on gene: ARHGEF17: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.147 ZPR1 Soo-Mi Park reviewed gene: ZPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29851065, 40776660; Phenotypes: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ZNF668 Soo-Mi Park reviewed gene: ZNF668: Rating: GREEN; Mode of pathogenicity: ; Publications: 34313816; Phenotypes: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ZDHHC9 Vicki Harrison reviewed gene: ZDHHC9: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Raymond type, OMIM:300799; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 ZBTB7A Soo-Mi Park reviewed gene: ZBTB7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 34515416; Phenotypes: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 YY1AP1 Soo-Mi Park reviewed gene: YY1AP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27939641, 31270375, 37698238, 31633303, 30556293, 37323195; Phenotypes: Grange syndrome, OMIM:602531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 YWHAE Elizabeth Scotchman reviewed gene: YWHAE: Rating: AMBER; Mode of pathogenicity: ; Publications: 29458882, 36433683, 36999555, 28542865; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 YRDC Natalie Canham reviewed gene: YRDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 34545459, 31481669; Phenotypes: Galloway-Mowat syndrome 10, OMIM:619609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 WSB2 Natalie Chandler reviewed gene: WSB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40374945; Phenotypes: neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 WNK3 Soo-Mi Park reviewed gene: WNK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35678782; Phenotypes: Prieto syndrome, OMIM:309610; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 WDR91 Natalie Chandler reviewed gene: WDR91: Rating: GREEN; Mode of pathogenicity: ; Publications: 40550703; Phenotypes: microcephaly, dysmorphic features, organomegaly, psychomotor delay, hypotonia, sensorineural hearing impairment, visual impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 WDR11 Tessa Homfray reviewed gene: WDR11: Rating: AMBER; Mode of pathogenicity: ; Publications: 34413497; Phenotypes: Intellectual developmental disorder, autosomal recessive 78, OMIM:620237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 WASHC3 Tessa Homfray reviewed gene: WASHC3: Rating: RED; Mode of pathogenicity: ; Publications: 40129681; Phenotypes: short stature, distinctive facies, and neurodevelopmental abnormalities; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 VPS51 Tessa Homfray reviewed gene: VPS51: Rating: GREEN; Mode of pathogenicity: ; Publications: 31207318, 30624672, 40565173, 40176246; Phenotypes: Pontocerebellar hypoplasia, type 13, OMIM:618606; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 VPS50 Tessa Homfray reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: ; Publications: 38876772, 34037727; Phenotypes: neurodevelopmental disorder with microcephaly, seizures and neonatal cholestasis, OMIM:619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 VPS33A Tessa Homfray reviewed gene: VPS33A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37628632, 36232726, 28013294; Phenotypes: Mucopolysaccharidosis-plus syndrome, OMIM:617303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 UGGT1 Tessa Homfray reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40267907; Phenotypes: Congenital disorder of glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TUBGCP2 Tessa Homfray reviewed gene: TUBGCP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40017707, 40448381, 33458610, 31630790; Phenotypes: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TTC26 Natalie Chandler reviewed gene: TTC26: Rating: GREEN; Mode of pathogenicity: ; Publications: 32617964, 24596149, 22718903, 31595528, 34177428; Phenotypes: Biliary, renal, neurologic, and skeletal syndrome, OMIM:619534; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TRPM4 Anna de Burca reviewed gene: TRPM4: Rating: RED; Mode of pathogenicity: ; Publications: 40896669; Phenotypes: Progressive familial heart block, type IB, OMIM:604559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 TRIO Vicki Harrison reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: ; Publications: 40905141; Phenotypes: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, OMIM:618825, Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 TPRKB Natalie Canham reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: ; Publications: 28805828, 38628357; Phenotypes: Galloway-Mowat syndrome 5, OMIM:617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TP53RK Natalie Canham reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: ; Publications: 30053862, 28805828, 38628357, 36116039, 36873107; Phenotypes: Galloway-Mowat syndrome 4, OMIM:617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMPRSS7 Soo-Mi Park reviewed gene: TMPRSS7: Rating: AMBER; Mode of pathogenicity: ; Publications: 40796295; Phenotypes: neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMEM263 Samantha Doyle reviewed gene: TMEM263: Rating: AMBER; Mode of pathogenicity: ; Publications: 29930570, 34238371, 38241182; Phenotypes: skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMEM251 Samantha Doyle reviewed gene: TMEM251: Rating: GREEN; Mode of pathogenicity: ; Publications: 40171858, 33252156; Phenotypes: Dysostosis multiplex, Ain-Naz type, OMIM:619345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMEM17 Natalie Chandler reviewed gene: TMEM17: Rating: GREEN; Mode of pathogenicity: ; Publications: 40841990; Phenotypes: Ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMEM167A Natalie Chandler reviewed gene: TMEM167A: Rating: GREEN; Mode of pathogenicity: ; Publications: 40924476; Phenotypes: Microcephaly, epilepsy and diabetes syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 THUMPD1 Natalie Canham reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35196516; Phenotypes: Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TH Natalie Canham reviewed gene: TH: Rating: RED; Mode of pathogenicity: ; Publications: 40967340; Phenotypes: Segawa syndrome, recessive, OMIM:605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TEK Sarah Graham reviewed gene: TEK: Rating: AMBER; Mode of pathogenicity: ; Publications: 29555671, 19888299; Phenotypes: Venous malformations, multiple cutaneous and mucosal, OMIM:600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 TASP1 Natalie Canham reviewed gene: TASP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31350873, 35512351, 37474017, 31209944, 29633245; Phenotypes: Suleiman-El-Hattab syndrome, OMIM:618950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TAF13 Vicki Harrison reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: ; Publications: 28257693, 40679298; Phenotypes: Intellectual developmental disorder, autosomal recessive 60, OMIM:617432; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SPTBN1 Vicki Harrison reviewed gene: SPTBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40869952; Phenotypes: Developmental delay, impaired speech, and behavioral abnormalities, OMIM:619475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SPOP Natalie Canham reviewed gene: SPOP: Rating: AMBER; Mode of pathogenicity: ; Publications: 36063898, 40304391, 32109420, 39918173, 36259278; Phenotypes: Nabais Sa-de Vries syndrome, type 1, OMIM:618828, Nabais Sa-de Vries syndrome, type 2, OMIM:618829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SOX4 Natalie Canham reviewed gene: SOX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 35232796, 36834931, 34750527, 38684576, 30661772; Phenotypes: Intellectual developmental disorder with speech delay and dysmorphic facies, OMIM:618506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SNAPIN Arina Puzriakova reviewed gene: SNAPIN: Rating: GREEN; Mode of pathogenicity: ; Publications: 40930097, 26539891; Phenotypes: neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SMG8 Samantha Doyle reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 33242396, 34761517, 37194129; Phenotypes: Alzahrani-Kuwahara syndrome, OMIM:619268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SMC5 Samantha Doyle reviewed gene: SMC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 36333305; Phenotypes: Atelis syndrome 2, OMIM:620185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SMARCC2 Samantha Doyle reviewed gene: SMARCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35796094, 35241061, 39901255, 37551667, 38117302, 40697538; Phenotypes: Coffin-Siris syndrome 8, OMIM:618362; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SMAD5 Natalie Chandler reviewed gene: SMAD5: Rating: AMBER; Mode of pathogenicity: ; Publications: 40619738; Phenotypes: congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SLF2 Samantha Doyle reviewed gene: SLF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36333305; Phenotypes: Atelis syndrome 1, OMIM:620184; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SLC9A6 Vicki Harrison reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: ; Publications: 40905141; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Christianson type, OMIM:300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 SLC5A6 Samantha Doyle reviewed gene: SLC5A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 40272030; Phenotypes: Sodium-dependent multivitamin transporter deficiency, OMIM:618973; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SLC13A1 Samantha Doyle reviewed gene: SLC13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39925707; Phenotypes: short stature, scoliosis, and skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SKOR2 Anna de Burca reviewed gene: SKOR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40890458; Phenotypes: Cerebellar hypoplasia, neurodevelopmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SIX2 Samantha Doyle reviewed gene: SIX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27383657, 32506814, 29315086, 26581443; Phenotypes: frontonasal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SIX1 Samantha Doyle reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: ; Publications: 37795857; Phenotypes: Branchiootic syndrome 3, OMIM:608389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SHROOM4 Vicki Harrison reviewed gene: SHROOM4: Rating: GREEN; Mode of pathogenicity: ; Publications: 40905141, 36379543, 32565546; Phenotypes: congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 SGCG Vicki Harrison reviewed gene: SGCG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SGCD Vicki Harrison reviewed gene: SGCD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, OMIM:601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SGCB Vicki Harrison reviewed gene: SGCB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4, OMIM:604286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SGCA Vicki Harrison reviewed gene: SGCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SF1 Natalie Canham reviewed gene: SF1: Rating: RED; Mode of pathogenicity: ; Publications: 40987292; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SEPHS1 Beth Young reviewed gene: SEPHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38531365; Phenotypes: Ververi-Brady syndrome 2, OMIM:621325; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SELENON Samantha Doyle reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 40159620, 37739444, 32864802; Phenotypes: OMIM:602771, Congenital myopathy 3 with rigid spine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SCNM1 Natalie Chandler reviewed gene: SCNM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36084634; Phenotypes: Orofaciodigital syndrome XIX, OMIM:620107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SATB1 Samantha Doyle reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38790177, 33513338, 36120649; Phenotypes: Developmental delay with dysmorphic facies and dental anomalies, OMIM:619228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SART3 Samantha Doyle reviewed gene: SART3: Rating: GREEN; Mode of pathogenicity: ; Publications: 37296101; Phenotypes: Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY Gonadal dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RSG1 Natalie Chandler reviewed gene: RSG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40593758; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RREB1 Natalie Chandler reviewed gene: RREB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40418122; Phenotypes: Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ROBO4 Samantha Doyle reviewed gene: ROBO4: Rating: RED; Mode of pathogenicity: ; Publications: 36855159, 30455415; Phenotypes: Aortic valve disease 3, OMIM:618496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RNU7-1 Esther Kinning reviewed gene: RNU7-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39031459, 35320431, 39332260, 33230297, 39748568; Phenotypes: Aicardi-Goutieres syndrome 9 OMIM:619487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RNU5A-1 Esther Kinning reviewed gene: RNU5A-1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40379786; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RNU2-2P Soo-Mi Park reviewed gene: RNU2-2P: Rating: AMBER; Mode of pathogenicity: ; Publications: 40950445, 40909831, 40442284, 40210679; Phenotypes: neurodevelopmental disorder; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 RNPC3 Esther Kinning reviewed gene: RNPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 35792517, 32462814, 34906446, 33650182; Phenotypes: Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RNF13 Samantha Doyle reviewed gene: RNF13: Rating: AMBER; Mode of pathogenicity: ; Publications: 30595371, 37668308; Phenotypes: Developmental and epileptic encephalopathy 73, OMIM:618379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RHOBTB2 Soo-Mi Park reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40329844, 29768694, 39831600, 33504645, 37165955, 29276004, 37982109; Phenotypes: Developmental and epileptic encephalopathy 64, OMIM:618004; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.147 RBBP5 Soo-Mi Park reviewed gene: RBBP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 39036895; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RASA2 Esther Kinning reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 25049390; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RALGAPA1 Soo-Mi Park reviewed gene: RALGAPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32004447, 19733229; Phenotypes: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, OMIM:618797; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RALA Soo-Mi Park reviewed gene: RALA: Rating: GREEN; Mode of pathogenicity: ; Publications: 39918382, 30761613, 41123801, 30500825; Phenotypes: Hiatt-Neu-Cooper neurodevelopmental syndrome, OMIM:619311; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RAD51C Natalie Chandler edited their review of gene: RAD51C: Added comment: Amber on UK fanconi panel. Green review on radial dysplasia case (from Aus). Green on all relevant Aus panels including fetal. Two cases in literature. 3rd paper refers to case in 2nd paper. Should go green on fanconi panels first.; Changed publications to: 29278735, 20400963, 37031326
Fetal anomalies v6.147 RAB35 Natalie Chandler reviewed gene: RAB35: Rating: RED; Mode of pathogenicity: ; Publications: 38432637; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PURA Esther Kinning reviewed gene: PURA: Rating: AMBER; Mode of pathogenicity: ; Publications: 39521787, 40603987; Phenotypes: Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, OMIM:616158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PTBP1 Natalie Canham reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40965981; Phenotypes: neurodevelopmental disorder with skeletal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PRKCI Anna de Burca reviewed gene: PRKCI: Rating: GREEN; Mode of pathogenicity: ; Publications: 40902599; Phenotypes: Van der Woude syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PRDM13 Arina Puzriakova reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: ; Publications: 34730112, 35390279; Phenotypes: Pontocerebellar hypoplasia, type 17, OMIM:619909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PPP1R21 Soo-Mi Park reviewed gene: PPP1R21: Rating: GREEN; Mode of pathogenicity: ; Publications: 32985083, 36692708, 38356149, 30520571, 29808498; Phenotypes: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, OMIM:619383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PPP1R13L Tessa Homfray reviewed gene: PPP1R13L: Rating: AMBER; Mode of pathogenicity: ; Publications: 39579152, 37698259, 35924320; Phenotypes: Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PPP1R12A Arina Puzriakova reviewed gene: PPP1R12A: Rating: GREEN; Mode of pathogenicity: ; Publications: 39252126, 37272772, 39257322, 40770999; Phenotypes: Genitourinary and/or brain malformation syndrome, OMIM:618820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 POLA1 Tessa Homfray reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 34119699, 31006512, 36182037; Phenotypes: Van Esch-O'Driscoll syndrome, OMIM:301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 PMS2 Anna de Burca reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28562508, 32354708, 22692065, 30166433, 33247381, 24737826, 17993636, 38981890, 38912246; Phenotypes: Mismatch repair cancer syndrome 4, OMIM:619101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PLXNB3 Arina Puzriakova reviewed gene: PLXNB3: Rating: RED; Mode of pathogenicity: ; Publications: 36506778; Phenotypes: congenital heart disease with neurodevelopmental disabilities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PLXNB2 Vicki Harrison reviewed gene: PLXNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 38458752; Phenotypes: amelogenesis imperfecta, hearing loss and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PLXNA1 Vicki Harrison reviewed gene: PLXNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40905141, 34054129; Phenotypes: Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 PLOD3 Esther Kinning reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: 40289369; Phenotypes: BCARD syndrome (lysyl hydroxylase 3 deficiency) OMIM:612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PIGU Tessa Homfray reviewed gene: PIGU: Rating: GREEN; Mode of pathogenicity: ; Publications: 31353022; Phenotypes: Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PIGK Tessa Homfray reviewed gene: PIGK: Rating: GREEN; Mode of pathogenicity: ; Publications: 33392778, 32220290, 38902431; Phenotypes: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, OMIM:618879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PIGB Tessa Homfray reviewed gene: PIGB: Rating: GREEN; Mode of pathogenicity: ; Publications: 34161862, 40230662, 31256876; Phenotypes: Developmental and epileptic encephalopathy 80, OMIM:618580; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PDIA6 Natalie Canham reviewed gene: PDIA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 40974269, 33495992, 35856135; Phenotypes: Polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PDCD6IP Natalie Chandler reviewed gene: PDCD6IP: Rating: AMBER; Mode of pathogenicity: ; Publications: 32286682, 40897677; Phenotypes: Microcephaly 29, primary, autosomal recessive, OMIM:620047; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PDCD2 Esther Kinning reviewed gene: PDCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40208938; Phenotypes: Nonimmune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PCLO Arina Puzriakova reviewed gene: PCLO: Rating: AMBER; Mode of pathogenicity: ; Publications: 40661989, 25832664; Phenotypes: Pontocerebellar hypoplasia, type 3, OMIM:608027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PATJ Arina Puzriakova reviewed gene: PATJ: Rating: AMBER; Mode of pathogenicity: ; Publications: 40931526; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PACSIN3 Beth Young reviewed gene: PACSIN3: Rating: RED; Mode of pathogenicity: ; Publications: 38637313; Phenotypes: Congenital myopathy 27, OMIM:621343; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 NUP133 Natalie Canham reviewed gene: NUP133: Rating: GREEN; Mode of pathogenicity: ; Publications: 37041680, 30427554; Phenotypes: Galloway-Mowat syndrome 8, OMIM:618349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 NUDCD2 Esther Kinning reviewed gene: NUDCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 37272762; Phenotypes: multiple malformation syndrome with cholestasis and renal failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 NSD2 Arina Puzriakova reviewed gene: NSD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36189577, 33276791, 30345613, 31171569, 40690504, 37351323, 38353053, 33941880; Phenotypes: Rauch-Steindl syndrome OMIM:619695; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 NR6A1 Natalie Chandler reviewed gene: NR6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40610405; Phenotypes: Oculovertebral syndrome, OMIM:621277; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 NOVA2 Esther Kinning reviewed gene: NOVA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35607920, 32197073; Phenotypes: neurodevelopmental disorder with hypotonia, neurological features, and brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 NOTCH3 Esther Kinning reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: 40771185; Phenotypes: Lateral meningocele syndrome, OMIM:130720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 MYLPF Esther Kinning reviewed gene: MYLPF: Rating: GREEN; Mode of pathogenicity: ; Publications: 32707087; Phenotypes: Arthrogryposis, distal, type 1C, OMIM:617378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MSH6 Anna de Burca reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: ; Publications: 28562508, 32354708, 22692065, 30166433, 33247381, 24737826, 17993636, 38981890, 38912246; Phenotypes: Mismatch repair cancer syndrome 3, OMIM:619097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MSH2 Anna de Burca reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28562508, 32354708, 22692065, 30166433, 33247381, 24737826, 17993636, 38981890, 38912246; Phenotypes: Mismatch repair cancer syndrome 2, OMIM:619096; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MNS1 Arina Puzriakova reviewed gene: MNS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30148830, 38920647, 39233552, 31534215, 39513328; Phenotypes: Heterotaxy, visceral, 9, autosomal, with male infertility (Autosomal recessive); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MMP9 Natalie Chandler reviewed gene: MMP9: Rating: AMBER; Mode of pathogenicity: ; Publications: 34407464, 28342220, 36035187; Phenotypes: Metaphyseal anadysplasia 2, OMIM:613073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MLH1 Anna de Burca reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28562508, 32354708, 22692065, 30166433, 33247381, 24737826, 17993636, 38981890, 38912246, 39420201; Phenotypes: Mismatch repair cancer syndrome 1, OMIM:276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MAST1 Alice Gardham reviewed gene: MAST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38284444; Phenotypes: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:618273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 MAPK8IP3 Alice Gardham reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 40734308; Phenotypes: Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 LSM1 Beth Young reviewed gene: LSM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40204357, 36100156, 31010896; Phenotypes: FICUS syndrome, OMIM:621193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 LRRC32 Alice Gardham reviewed gene: LRRC32: Rating: GREEN; Mode of pathogenicity: ; Publications: 30976112, 40721351, 35656379; Phenotypes: Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619047; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 LMOD2 Esther Kinning reviewed gene: LMOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35188328, 34888509, 31517052, 35082396, 37296576; Phenotypes: Cardiomyopathy, dilated, 2G, OMIM:619897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 LINC01578 Natalie Chandler reviewed gene: LINC01578: Rating: AMBER; Mode of pathogenicity: ; Publications: 39442041; Phenotypes: Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, OMIM:621012; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 LHX2 Esther Kinning reviewed gene: LHX2: Rating: RED; Mode of pathogenicity: ; Publications: 37057675; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 LEF1 Beth Young reviewed gene: LEF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35583550, 32022899, 39107921; Phenotypes: Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 LDB3 Beth Young reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: 36253531; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 KIAA0556 Alice Gardham reviewed gene: KIAA0556: Rating: GREEN; Mode of pathogenicity: ; Publications: 26714646, 36580738, 40428346, 40725402, 27245168; Phenotypes: Joubert syndrome 26, OMIM:616784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 KDM4B Natalie Chandler reviewed gene: KDM4B: Rating: GREEN; Mode of pathogenicity: ; Publications: 38270710, 33232677; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, OMIM:619320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 KCNQ5 Alice Gardham reviewed gene: KCNQ5: Rating: RED; Mode of pathogenicity: ; Publications: 40620262; Phenotypes: Intellectual developmental disorder, autosomal dominant 46, OMIM:617601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.147 KCNN4 Natalie Chandler reviewed gene: KCNN4: Rating: AMBER; Mode of pathogenicity: ; Publications: 36031591; Phenotypes: Dehydrated hereditary stomatocytosis 2, OMIM:616689; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 KCNJ8 Anna de Burca reviewed gene: KCNJ8: Rating: GREEN; Mode of pathogenicity: ; Publications: 24700710, 24176758, 25275207; Phenotypes: Cantu syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 INPP4A Alice Gardham reviewed gene: INPP4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25338135, 31978615, 21937992, 31938306, 36653678, 39315527; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 IL6ST Soo-Mi Park reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: ; Publications: 40835206; Phenotypes: Stuve-Wiedemann syndrome 2, OMIM:619751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 IKZF2 Beth Young reviewed gene: IKZF2: Rating: AMBER; Mode of pathogenicity: ; Publications: 37316189; Phenotypes: Immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay, OMIM:621234; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 IFT57 Alice Gardham reviewed gene: IFT57: Rating: GREEN; Mode of pathogenicity: ; Publications: 40273360, 27060890; Phenotypes: Bardet-Biedl Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 HNRNPR Elizabeth Scotchman reviewed gene: HNRNPR: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079900, 33874999; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HNRNPH1 Elizabeth Scotchman reviewed gene: HNRNPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29938792, 33874999, 32335897; Phenotypes: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HMGB1 Esther Kinning reviewed gene: HMGB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36755093, 34164801, 39635340; Phenotypes: brachyphalangy, polydactyly and tibial aplasia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HEY2 Alice Gardham reviewed gene: HEY2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40481234; Phenotypes: Tetralogy of Fallot; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HERC2 Anna de Burca reviewed gene: HERC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23243086, 38884635, 23065719, 41059448; Phenotypes: Intellectual developmental disorder, autosomal recessive 38, OMIM:615516; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 HDAC2 Vicki Harrison reviewed gene: HDAC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141, 30806031, 38753158; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HACD1 Anna de Burca reviewed gene: HACD1: Rating: RED; Mode of pathogenicity: ; Publications: 23933735, 15829503, 32426512, 36823680, 33354762; Phenotypes: Congenital myopathy 11, OMIM:619967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 H3F3B Anna de Burca reviewed gene: H3F3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 34876591, 33268356, 39060653; Phenotypes: Bryant-Li-Bhoj neurodevelopmental syndrome 2, OMIM:619721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 GTF3C3 Beth Young reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39636576, 40040844; Phenotypes: Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 GPKOW Natalie Chandler reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: ; Publications: 28612833, 40221893; Phenotypes: Intrauterine growth restriction, microcephaly/microencephaly, and eye, brain, skin, and skeletal abnormalities; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v6.147 GON7 Natalie Canham reviewed gene: GON7: Rating: GREEN; Mode of pathogenicity: ; Publications: 31481669; Phenotypes: Galloway-Mowat syndrome 9, OMIM:619603; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 GNPNAT1 Beth Young reviewed gene: GNPNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39945447; Phenotypes: Talipes equinovarus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 GINS3 Natalie Chandler reviewed gene: GINS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38773883, 35603789; Phenotypes: Meier-Gorlin syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 GATAD2B Sarah Graham reviewed gene: GATAD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 39976362, 31949314, 40371175; Phenotypes: GAND syndrome, OMIM:615074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FOXI3 Alice Gardham reviewed gene: FOXI3: Rating: GREEN; Mode of pathogenicity: ; Publications: 36260083, 40032185, 40128339, 37041148, 40275486; Phenotypes: Craniofacial microsomia 2, OMIM:620444; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FIBP Anna de Burca reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: ; Publications: 37876348, 37218527, 27183861, 40536757, 26660953, 40099975; Phenotypes: Thauvin-Robinet-Faivre syndrome, OMIM:617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 FGF4 Beth Young reviewed gene: FGF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 40259859; Phenotypes: Short-rib thoracic dysplasia 22 without polydactyly, OMIM:621260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 FEM1B Beth Young reviewed gene: FEM1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 38465576; Phenotypes: Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FBXW7 Anna de Burca reviewed gene: FBXW7: Rating: GREEN; Mode of pathogenicity: ; Publications: 35395208, 39364007; Phenotypes: Developmental delay, hypotonia, and impaired language, OMIM:620012; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FBXO28 Elizabeth Scotchman reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: ; Publications: 37761828, 37543484, 30160831, 33280099; Phenotypes: Developmental and epileptic encephalopathy 100, OMIM:619777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FBXO11 Arina Puzriakova reviewed gene: FBXO11: Rating: RED; Mode of pathogenicity: ; Publications: 35726512, 38268232; Phenotypes: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 EXOSC9 Arina Puzriakova reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 33040083, 29727687, 30690203; Phenotypes: Pontocerebellar hypoplasia, type 1D, OMIM:618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 EXOSC1 Arina Puzriakova reviewed gene: EXOSC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 37024942, 33463720; Phenotypes: Pontocerebellar hypoplasia, type 1F, OMIM:619304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ETV2 Natalie Chandler reviewed gene: ETV2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33359164; Phenotypes: congenital heart defects, vertebral abnormalities and preaxial polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ENPP5 Alice Gardham reviewed gene: ENPP5: Rating: AMBER; Mode of pathogenicity: ; Publications: 40457511; Phenotypes: Skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 EMC10 Elizabeth Scotchman reviewed gene: EMC10: Rating: GREEN; Mode of pathogenicity: ; Publications: 32869858, 40150819, 35684946, 35124540, 33531666; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ELFN1 Beth Young reviewed gene: ELFN1: Rating: RED; Mode of pathogenicity: ; Publications: 40576023, 34509675, 34452636; Phenotypes: Dursun-Ozgul neurodevelopmental syndrome, OMIM:621344; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 EIF4A2 Elizabeth Scotchman reviewed gene: EIF4A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36528028; Phenotypes: Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, OMIM:620455; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.147 EDN1 Elizabeth Scotchman reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24268655, 35170830, 12244558; Phenotypes: Auriculocondylar syndrome 3, OMIM:615706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 EDA Alice Gardham reviewed gene: EDA: Rating: RED; Mode of pathogenicity: ; Publications: 40781288; Phenotypes: Hypohidrotic ectodermal dysplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 DPH5 Elizabeth Scotchman reviewed gene: DPH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 35482014, 40725455; Phenotypes: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DOT1L Beth Young reviewed gene: DOT1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 37827158, 41475673; Phenotypes: Nil-Deshwar neurodevelopmental syndrome, OMIM:621265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 DNAH14 Alice Gardham reviewed gene: DNAH14: Rating: RED; Mode of pathogenicity: ; Publications: 40721351, 35438214; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DLG3 Natalie Canham reviewed gene: DLG3: Rating: AMBER; Mode of pathogenicity: ; Publications: 40983642; Phenotypes: Intellectual developmental disorder, X-linked 90, OMIM:300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 DIP2C Elizabeth Scotchman reviewed gene: DIP2C: Rating: AMBER; Mode of pathogenicity: ; Publications: 40915331, 34617658, 38421105; Phenotypes: neurodevelopmental disorder, congenital heart defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 DHX37 Arina Puzriakova reviewed gene: DHX37: Rating: GREEN; Mode of pathogenicity: ; Publications: 40934457; Phenotypes: Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, OMIM:618731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DHRS3 Natalie Chandler reviewed gene: DHRS3: Rating: AMBER; Mode of pathogenicity: ; Publications: 40519748; Phenotypes: coronal craniosynostosis, dysmorphic facial features, congenital heart disease, scoliosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DHPS Elizabeth Scotchman reviewed gene: DHPS: Rating: AMBER; Mode of pathogenicity: ; Publications: 30661771; Phenotypes: Neurodevelopmental disorder with seizures and speech and walking impairment, OMIM:618480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DDX23 Elizabeth Scotchman reviewed gene: DDX23: Rating: AMBER; Mode of pathogenicity: ; Publications: 34050707; Phenotypes: Syndromic neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 DDR1 Alice Gardham reviewed gene: DDR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39714220; Phenotypes: Chondrodysplasia with multiple dislocations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CSDE1 Natalie Chandler reviewed gene: CSDE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31579823, 34519148; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CRELD1 Natalie Canham reviewed gene: CRELD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40870020, 37947183, 40980404; Phenotypes: Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CPOX Alice Gardham reviewed gene: CPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: 40769776; Phenotypes: Harderoporphyria, OMIM:618892; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CLCNKB Tessa Homfray reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 4b, digenic, OMIM:613090, Bartter syndrome, type 3, OMIM:607364; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CLCNKA Tessa Homfray reviewed gene: CLCNKA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 4b, digenic, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CLCN3 Elizabeth Scotchman reviewed gene: CLCN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 36536096, 34186028; Phenotypes: Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517, Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.147 CHD8 Vicki Harrison reviewed gene: CHD8: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141, 40848233; Phenotypes: Intellectual developmental disorder with autism and macrocephaly, OMIM:615032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CEP76 Natalie Chandler reviewed gene: CEP76: Rating: GREEN; Mode of pathogenicity: ; Publications: 41105778; Phenotypes: retinitis pigmentosa, Joubert syndrome, complex neurodevelopmental disorder MONDO:0100038, Bardet-Biedl syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CEP162 Natalie Chandler reviewed gene: CEP162: Rating: RED; Mode of pathogenicity: ; Publications: 36862503; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CDX1 Beth Young reviewed gene: CDX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23329892; Phenotypes: Anorectal malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CDH11 Beth Young reviewed gene: CDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: 33811546, 29271567; Phenotypes: Teebi hypertelorism syndrome 2, OMIM:619736; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 CDC42BPB Elizabeth Scotchman reviewed gene: CDC42BPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 32031333; Phenotypes: Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CDC42 Elizabeth Scotchman reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: ; Publications: 40371891, 33936654, 34624555, 29335451, 29394990, 26708094, 33672558, 26386261; Phenotypes: Takenouchi-Kosaki syndrome, OMIM:616737; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CDC40 Arina Puzriakova reviewed gene: CDC40: Rating: AMBER; Mode of pathogenicity: ; Publications: 33220177; Phenotypes: Pontocerebellar hypoplasia, type 15, OMIM:619302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CCT8 Stephanie Allen reviewed gene: CCT8: Rating: AMBER; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: Brain malformations, intellectual disability, and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CCP110 Arina Puzriakova reviewed gene: CCP110: Rating: AMBER; Mode of pathogenicity: ; Publications: 38857829; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CCM2L Stephanie Allen reviewed gene: CCM2L: Rating: RED; Mode of pathogenicity: ; Publications: 40521769; Phenotypes: Tetralogy of Fallot; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CCDC88A Stephanie Allen reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37798908, 39334473, 26917597, 39675783, 40401444, 30392057; Phenotypes: PEHO syndrome-like, OMIM:617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CCDC32 Natalie Chandler reviewed gene: CCDC32: Rating: GREEN; Mode of pathogenicity: ; Publications: 32307552; Phenotypes: Cardiofacioneurodevelopmental syndrome, OMIM:619123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CBFB Stephanie Allen reviewed gene: CBFB: Rating: GREEN; Mode of pathogenicity: ; Publications: 36241386, 39894570; Phenotypes: Cleidocranial dysplasia-2, OMIM:620099; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CAMSAP1 Natalie Chandler reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39724270, 36283405; Phenotypes: Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CACHD1 Sarah Graham reviewed gene: CACHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38158856; Phenotypes: Neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BUB1 Natalie Chandler reviewed gene: BUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 35044816; Phenotypes: Microcephaly 30, primary, autosomal recessive, OMIM:620183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BRWD3 Vicki Harrison reviewed gene: BRWD3: Rating: RED; Mode of pathogenicity: ; Publications: 40905141, 36414205; Phenotypes: Intellectual developmental disorder, X-linked 93, OMIM:300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 BRF2 Stephanie Allen reviewed gene: BRF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40781771, 40229899; Phenotypes: Syndromic immunodeficiency and developmental disorders; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BRF1 Stephanie Allen reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40657982; Phenotypes: Cerebellofaciodental syndrome, OMIM:616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BNIP1 Beth Young reviewed gene: BNIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 3,526,622,739,706,860; Phenotypes: Spondyloepiphyseal dysplasia, Holling type, OMIM:621345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BBIP1 Natalie Chandler reviewed gene: BBIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37239474, 24026985, 32055034; Phenotypes: Bardet-Biedl syndrome 18, MIM #615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BAZ2B Sarah Graham reviewed gene: BAZ2B: Rating: AMBER; Mode of pathogenicity: ; Publications: 31999386, 37872713; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 B9D1 Stephanie Allen reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40933483, 40565534; Phenotypes: Joubert syndrome 27, OMIM:617120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ATP6V0A1 Anna de Burca reviewed gene: ATP6V0A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141, 34909687, 33833240; Phenotypes: Developmental and epileptic encephalopathy 104, OMIM:619970, Neurodevelopmental disorder with epilepsy and brain atrophy, OMIM:619971; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 ASXL2 Soo-Mi Park reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33751773, 27693232, 35182806; Phenotypes: Shashi-Pena syndrome, OMIM:617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ARHGEF40 Sarah Graham reviewed gene: ARHGEF40: Rating: AMBER; Mode of pathogenicity: ; Publications: 39838643; Phenotypes: Congenital anomalies and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ARHGEF17 Arina Puzriakova reviewed gene: ARHGEF17: Rating: RED; Mode of pathogenicity: ; Publications: 36341116, 40721351; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ARF3 Natalie Chandler reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38712921, 36369169, 34346499; Phenotypes: Neurodevelopmental disorder, brain abnormality; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ARAF Stephanie Allen reviewed gene: ARAF: Rating: RED; Mode of pathogenicity: ; Publications: 31263281; Phenotypes: Lymphatic anomaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ANKRD17 Stephanie Allen reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: ; Publications: 40604385; Phenotypes: Chopra-Amiel-Gordon syndrome, OMIM:619504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ANKLE2 Natalie Chandler reviewed gene: ANKLE2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35871307, 31735666, 30214071, 40940024, 25259927; Phenotypes: Microcephaly 16, primary, autosomal recessive, OMIM:616681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 AMOT Anna de Burca reviewed gene: AMOT: Rating: AMBER; Mode of pathogenicity: ; Publications: 40892511; Phenotypes: Congenital hydrocephalus; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 ALKBH8 Stephanie Allen reviewed gene: ALKBH8: Rating: AMBER; Mode of pathogenicity: ; Publications: 40721351; Phenotypes: Intellectual developmental disorder, autosomal recessive 71, OMIM:618504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 AIMP2 Stephanie Allen reviewed gene: AIMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40721351; Phenotypes: Leukodystrophy, hypomyelinating, 17, OMIM:618006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 AIMP1 Stephanie Allen reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40603987; Phenotypes: Leukodystrophy, hypomyelinating, 3, OMIM:260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ADAT3 Stephanie Allen reviewed gene: ADAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 40579404; Phenotypes: Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ADAMTS9 Elizabeth Scotchman reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: ; Publications: 30609407, 34750010; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ADAMTS13 Stephanie Allen reviewed gene: ADAMTS13: Rating: RED; Mode of pathogenicity: ; Publications: 40760196; Phenotypes: Hereditary thrombotic thrombocytopenic purpura, OMIM:274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ACVR2B Natalie Chandler reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: ; Publications: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ACVR1 Soo-Mi Park reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40911705, 40874919, 26097044, 25346098; Phenotypes: Fibrodysplasia ossificans progressiva, OMIM:135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ABI2 Stephanie Allen reviewed gene: ABI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40475134; Phenotypes: Intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 RNU2-2P Arina Puzriakova gene: RNU2-2P was added
gene: RNU2-2P was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNU2-2P was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.146 ATP6V0A1 Arina Puzriakova gene: ATP6V0A1 was added
gene: ATP6V0A1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ATP6V0A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.145 WASHC3 Arina Puzriakova gene: WASHC3 was added
gene: WASHC3 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: WASHC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.144 EDN1 Arina Puzriakova Mode of inheritance for gene EDN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 THUMPD1 Arina Puzriakova gene: THUMPD1 was added
gene: THUMPD1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 RHOBTB2 Arina Puzriakova gene: RHOBTB2 was added
gene: RHOBTB2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RHOBTB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.143 PLXNA1 Arina Puzriakova gene: PLXNA1 was added
gene: PLXNA1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.143 FOXI3 Arina Puzriakova Source Expert Review Green was added to FOXI3.
Mode of inheritance for gene FOXI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 EIF4A2 Arina Puzriakova gene: EIF4A2 was added
gene: EIF4A2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: EIF4A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.143 CLCN3 Arina Puzriakova gene: CLCN3 was added
gene: CLCN3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CLCN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.142 FSD1L Ida Ertmanska gene: FSD1L was added
gene: FSD1L was added to Fetal anomalies. Sources: Literature
Q1_26_promote_green tags were added to gene: FSD1L.
Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSD1L were set to 41720098; 41720099
Phenotypes for gene: FSD1L were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: FSD1L was set to GREEN
Added comment: PMID: 41720098 Serpieri et al., 2026
Report of eleven individuals (including five fetuses) from six unrelated families harbouring biallelic FSD1L variants. Seq method: exome sequencing. Consanguinity was confirmed in 4/6 families, and suspected in the fifth.
Phenotype spectrum: severe intellectual disability (5/5 assessed from 3 families), epilepsy (5 individuals from 3 families), severe hydrocephalus (3 families), vision deficit due to optic nerve hypoplasia/atrophy (3 families), spastic tetraparesis (2 families) corpus callosum hypoplasia/agenesis on MRI (5/5 families assessed),

Variants detected - largely nonsense type:
Family A - homozygous c.409T>G (p.Leu137Val);
Family B - 3 affected fetuses homozygous for c.1411C>T (p.Gln471Ter);
Family C - sibs compound het for c.1228T>G (p.Phe410Val) and c.1251_1252insTAA (p.Thr418Ter);
Family D - affected individuals (1 fetal case) homozygous for c.1366G>C (p.Asp456His) - shown to impact splicing (r.406_442del), resulting in predicted p.Ser136LeufsTer19 change;
Family E - affected child with homozygous c.835C>T (p.Arg279Ter) change;
Family F - fetus homozygous for c.1260G>A (p.Trp420Ter);

Functional evidence: Fsd1l depletion in mouse embryos recapitulated the ventricular dilation observed in affected fetuses.

PMID 41720099 Lin et al., 2026
Report of 6 affected individuals from 4 families with retinitis pigmentosa. One individual underwent a full neurological evaluation, including brain neuroimaging, which revealed no evidence of central nervous system involvement.
FSD1L variants detected:
Family A: 2 sibs compound het for c.1049G>A (p.Arg350Gln) and c.1428del (p.Phe476Leufs∗22)
Family B: individual comp het for c.488G>A (p.Arg163His), c.488G>A & c.745C>T (p.Arg249∗)
Family C: 2 sibs compound het for c.488G>A (p.Arg163His) & c.226_227del (p.Ser77Argfs∗4)
Family D: individual compound het for c.1037_1038delinsT (p.Pro346Leufs∗8) and c.1025+624_1025+649del
Sibs from family A had mild neurological involvement (mild ID, spastic diplegia in one sibling).
Authors note that "specific combination and functional severity of the two alleles likely determines the clinical outcome", with non-LoF variants causing a milder effect (e.g., isolated retinal phenotype).

FSD1L is not yet associated with a phenotype in OMIM or Gene2Phenotype.
Sources: Literature
Fetal anomalies v6.140 CELSR3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are sufficient number of patients reported with biallelic variants and CNS anomalies/ CAKUT. However, previous review suggests that the disease association is not convincing. Hence, expert review is sought on whether this gene can be promoted to green rating on this panel.
Fetal anomalies v6.138 CELSR3 Achchuthan Shanmugasundram edited their review of gene: CELSR3: Added comment: PMID:38429302 (2024) reported the identification of biallelic variants in CELSR3 gene in 12 individuals from 11 unrelated families. Six of 12 patients presented with homozygous missense and five with compound heterozygous missense CELSR3 variants, while one individual carried a heterozygous missense variant and an in-frame-deletion in trans.

Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12).

There is also functional evidence available from zebrafish, where transient suppression of CELSR3 ortholog Celsr3 leads to anomalies in the developing CNS and urinary system.

This gene has not yet been associated with relevant phenotypes in OMIM (last accessed 26 February 2026) or ClinGen, but biallelic CELSR3 variants have been associated with 'limited' rating on the DD panel of Gene2Phenotype. This gene is also rated green on the Fetal anomalies panel of PanelApp Australia.; Changed rating: GREEN; Changed publications to: 38429302; Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, congenital anomaly of kidney and urinary tract, MONDO:0019719; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.138 PKHD1 Arina Puzriakova Phenotypes for gene: PKHD1 were changed from POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
Fetal anomalies v6.135 CYP11A1 Ida Ertmanska reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11502818, 29995203, 30620006, 35418949, 39457196; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743, Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, MONDO:0013400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.135 SNAPIN Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four foetuses from three unrelated families reported with biallelic SNAPIN variants and with neuroanatomical, craniofacial, and skeletal anomalies on prenatal ultrasound/MRI. Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v6.133 BHLHE22 Arina Puzriakova changed review comment from: PMID:39502664 is currently still in pre-print and therefore this gene-disease association should be considered provisional pending peer-reviewed publication.; to: PMID:39502664 is currently still in pre-print and therefore this gene-disease association should be considered provisional pending peer-reviewed publication. Discussed with R21 expert group and agreed to demote to Amber awaiting publication.
Fetal anomalies v6.133 SNAPIN Achchuthan Shanmugasundram gene: SNAPIN was added
gene: SNAPIN was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SNAPIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAPIN were set to 40930097
Phenotypes for gene: SNAPIN were set to Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393
Review for gene: SNAPIN was set to GREEN
Added comment: PMID:40930097 (2025) reported six patients from five unrelated families presenting with neuroanatomical, craniofacial, and skeletal anomalies and were identified with homozygous variants in SNAPIN gene. This included four foetuses from three unrelated families (had nonsense or splice site variants - c.91G>T/ p.Glu31Ter, c.144−1G>A & c.112C>T/ p.Gln38Ter) and two unrelated patients aged eight years old and one year old (had missense variants - c.147G>C/ p.Glu49Asp & c.163C>T/ p.Arg55Trp). One of the foetuses had intrauterine demise at 26 weeks' gestation, and the other 3 pregnancies ended in termination.

Brain abnormalities in the patients included ventriculomegaly (5/6), cerebellar hypoplasia/ atrophy (5/6) and corpus callosum agenesis (4/6). The other phenotypes included clubfeet (4/6), flexion contractures (4/6), microcephaly (3/6) and micrognathia/retrognathia (4/6).

Functional evidence is also available from zebrafish gene ablation models, which recapitulated human-relevant disease phenotypes.

This gene has been associated with relevant phenotype in OMIM (MIM #621393, last accessed on 02 January 2026), but not yet in Gene2Phenotype or ClinGen.
Sources: Literature
Fetal anomalies v6.132 WSB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated patients reported with either IUGR or Oligohydramnios. Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v6.131 WSB2 Achchuthan Shanmugasundram gene: WSB2 was added
gene: WSB2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WSB2 were set to 40374945
Phenotypes for gene: WSB2 were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: WSB2 was set to GREEN
Added comment: PMID:40374945 reported five patients from four unrelated families with developmental delays, brain anomalies, and dysmorphic features with or without intrauterine growth restriction (IUGR) and hypotonia. They were all identified with homozygous predicted loss-of-function (pLoF) or missense variants in WSB2 gene (c.128G>A/ p.Trp43Ter, p.Gln134ArgfsTer14, c.1121G>A/ p.Arg374Gln & c.1187_1188delAA/ p.Lys396ArgfsTer19) inherited from asymptomatic consanguineous parents.

Intrauterine growth restriction (IUGR) was reported in two unrelated patients and Oligohydramnios was reported in a different unrelated patient.

There is also functional evidence available from Wsb2-mutant mice, which exhibited several neurological findings that included hyperactivity, altered exploration, and hyper alertness. They also weighed less, had a lower heart rate, and presented an abnormal retinal blood vessel morphology and vasculature pattern along with decreased total thickness of the retina.

This gene has not been associated with relevant phenotypes either in OMIM, Gene2Phenotype or ClinGen.
Sources: Literature
Fetal anomalies v6.130 MIA3 Arina Puzriakova changed review comment from: Comment on phenotypes: OMIM phenotype (Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025; to: Comment on phenotypes: OMIM phenotype (?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025
Fetal anomalies v6.130 MIA3 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype (Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025
Fetal anomalies v6.130 MIA3 Arina Puzriakova Phenotypes for gene: MIA3 were changed from Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269 to ?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
Fetal anomalies v6.129 TSEN34 Ida Ertmanska commented on gene: TSEN34: Comment on list classification: There is one patient reported in literature with a biallelic variant in TSEN34 and Pontocerebellar hypoplasia type 2. While TSEN34 shares a biochemical function with other genes known to cause Pontocerebellar hypoplasia type 2, the clinical evidence for this gene-disease association is lacking in literature. Hence, TSEN34 should be demoted to Amber for Ataxia and cerebellar anomalies - narrow panel, until more evidence emerges.
Fetal anomalies v6.129 TSEN34 Ida Ertmanska reviewed gene: TSEN34: Rating: AMBER; Mode of pathogenicity: None; Publications: 20952379, 27370523, 32476018, 37544645; Phenotypes: Pontocerebellar hypoplasia type 2C, OMIM:612390, pontocerebellar hypoplasia type 2C, MONDO:0012891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.129 BHLHE22 Arina Puzriakova commented on gene: BHLHE22: PMID:39502664 is currently still in pre-print and therefore this gene-disease association should be considered provisional pending peer-reviewed publication.
Fetal anomalies v6.129 C1orf127 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621080) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.128 PAN2 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621384) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.128 PAN2 Achchuthan Shanmugasundram Phenotypes for gene: PAN2 were changed from syndromic disease MONDO:0002254 to Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384
Fetal anomalies v6.127 AMOTL1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621192) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.126 GON4L Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621212) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.124 TBC1D32 Achchuthan Shanmugasundram changed review comment from: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #258865) and the OMIM record was last accessed on 18 December 2025.; to: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #258865 & #621307) and the OMIM records were last accessed on 18 December 2025.
Fetal anomalies v6.124 TBC1D32 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #258865) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.123 PAICS Arina Puzriakova Phenotypes for gene: PAICS were changed from Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; Polyhydramnios; multiple congenital abnormalities; early neonatal death to Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859; Polyhydramnios; multiple congenital abnormalities; early neonatal death
Fetal anomalies v6.121 MIA3 Arina Puzriakova commented on gene: MIA3: Another fetal case - PMID: 40130161 (2025) - Homozygous c.2768T>G, p.(Leu923*) was detected in a fetus from a Slovenian family who presented with short bones of extremities (7 percentile), fibular aplasia, bilateral radial aplasia, tibial aplasia, hypoplastic nasal bone, delayed ossification, and congenital contractures.
Fetal anomalies v6.121 NEXN Arina Puzriakova changed review comment from: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' as per the review.; to: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' to 'BIALLELIC, autosomal or pseudoautosomal' as per the review.
Fetal anomalies v6.121 MIA3 Arina Puzriakova Phenotypes for gene: MIA3 were changed from Ondontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269 to Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
Fetal anomalies v6.120 ZEB1 Achchuthan Shanmugasundram reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 WDR47 Achchuthan Shanmugasundram reviewed gene: WDR47: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 UNC13D Achchuthan Shanmugasundram edited their review of gene: UNC13D: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 TCP1 Achchuthan Shanmugasundram reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 STX5 Achchuthan Shanmugasundram edited their review of gene: STX5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 SRPK3 Achchuthan Shanmugasundram reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 SPTA1 Achchuthan Shanmugasundram edited their review of gene: SPTA1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 SPOUT1 Achchuthan Shanmugasundram reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 SLC35A3 Achchuthan Shanmugasundram reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 SLC12A9 Achchuthan Shanmugasundram reviewed gene: SLC12A9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 SENP7 Achchuthan Shanmugasundram reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 RPL26 Achchuthan Shanmugasundram reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 RNU5B-1 Achchuthan Shanmugasundram reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 RIPPLY2 Achchuthan Shanmugasundram reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 RAB11B Achchuthan Shanmugasundram edited their review of gene: RAB11B: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 PUS3 Achchuthan Shanmugasundram reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PTEN Achchuthan Shanmugasundram reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PSKH1 Achchuthan Shanmugasundram reviewed gene: PSKH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PPFIBP1 Achchuthan Shanmugasundram reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PPFIA3 Achchuthan Shanmugasundram reviewed gene: PPFIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PLAA Achchuthan Shanmugasundram edited their review of gene: PLAA: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 PIGW Achchuthan Shanmugasundram reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PIGP Achchuthan Shanmugasundram reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PIGG Achchuthan Shanmugasundram edited their review of gene: PIGG: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 PI4KA Achchuthan Shanmugasundram edited their review of gene: PI4KA: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 PHF5A Achchuthan Shanmugasundram reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PDE12 Achchuthan Shanmugasundram edited their review of gene: PDE12: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewers commented as follows: The concern from the panel for this one is that the two prenatal presentations are very different. There is no link between brain anomalies and hydrops. The panel want to see more evidence that the gene is causing a prenatal pehnotype and there is not another cuase of these abnormalities in these families.; Changed rating: AMBER
Fetal anomalies v6.120 PAK2 Achchuthan Shanmugasundram reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PAICS Achchuthan Shanmugasundram reviewed gene: PAICS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 ODC1 Achchuthan Shanmugasundram reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 NR2F1 Achchuthan Shanmugasundram reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 NODAL Achchuthan Shanmugasundram reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 NEXN Achchuthan Shanmugasundram edited their review of gene: NEXN: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 NEPRO Achchuthan Shanmugasundram reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 NDUFB7 Achchuthan Shanmugasundram reviewed gene: NDUFB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MYH9 Achchuthan Shanmugasundram reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MSL2 Achchuthan Shanmugasundram reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MIA3 Achchuthan Shanmugasundram reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MED11 Achchuthan Shanmugasundram reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MAPK1 Achchuthan Shanmugasundram edited their review of gene: MAPK1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 MAGED2 Achchuthan Shanmugasundram reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 LSS Achchuthan Shanmugasundram reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 LGI3 Achchuthan Shanmugasundram reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 LDB1 Achchuthan Shanmugasundram reviewed gene: LDB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 LAGE3 Achchuthan Shanmugasundram edited their review of gene: LAGE3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 ITGAV Achchuthan Shanmugasundram edited their review of gene: ITGAV: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 IFT27 Achchuthan Shanmugasundram edited their review of gene: IFT27: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 HNRNPU Achchuthan Shanmugasundram reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 HDAC3 Achchuthan Shanmugasundram reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 GNS Achchuthan Shanmugasundram reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 GNAI2 Achchuthan Shanmugasundram reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 GEMIN4 Achchuthan Shanmugasundram reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 GALT Achchuthan Shanmugasundram reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 FLVCR1 Achchuthan Shanmugasundram reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 FLII Achchuthan Shanmugasundram reviewed gene: FLII: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 FAAP100 Achchuthan Shanmugasundram reviewed gene: FAAP100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 EXOSC8 Achchuthan Shanmugasundram edited their review of gene: EXOSC8: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 EXOC6B Achchuthan Shanmugasundram reviewed gene: EXOC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 EFL1 Achchuthan Shanmugasundram reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 EEFSEC Achchuthan Shanmugasundram reviewed gene: EEFSEC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 DST Achchuthan Shanmugasundram reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 DSE Achchuthan Shanmugasundram reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 DHX9 Achchuthan Shanmugasundram reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 DHRSX Achchuthan Shanmugasundram reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 CTGF Achchuthan Shanmugasundram reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 COQ2 Achchuthan Shanmugasundram reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 COMP Achchuthan Shanmugasundram reviewed gene: COMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 COL25A1 Achchuthan Shanmugasundram edited their review of gene: COL25A1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 CELSR1 Achchuthan Shanmugasundram edited their review of gene: CELSR1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 CDK5 Achchuthan Shanmugasundram reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 C1orf127 Achchuthan Shanmugasundram reviewed gene: C1orf127: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 C12orf66 Achchuthan Shanmugasundram reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 BORCS5 Achchuthan Shanmugasundram reviewed gene: BORCS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 BHLHE22 Achchuthan Shanmugasundram reviewed gene: BHLHE22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 ARL6IP1 Achchuthan Shanmugasundram reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 ARL2BP Achchuthan Shanmugasundram reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 AGT Achchuthan Shanmugasundram edited their review of gene: AGT: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 AGRN Achchuthan Shanmugasundram reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.117 DMPK_CTG Arina Puzriakova commented on STR: DMPK_CTG: The rating of this STR has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.117 XYLT1_GCC Arina Puzriakova commented on STR: XYLT1_GCC: R21 Clinical Oversight Group comment: Agree that this should be approved by the STR group first
Fetal anomalies v6.116 GPKOW Eleanor Williams edited their review of gene: GPKOW: Changed rating: GREEN
Fetal anomalies v6.116 GPKOW Eleanor Williams edited their review of gene: GPKOW: Changed rating: AMBER
Fetal anomalies v6.115 KIAA0556 Arina Puzriakova Added comment: Comment on list classification: Upgrading from Red to Amber and tagging for additional GMS expert review to determine whether there is sufficient evidence to indicate that the phenotype is prenatally relevant.

The main finding that may plausibly be detected prenatally is cerebellar hypoplasia / molar tooth sign. Other possible fetal scan findings include: PMIDs 26714646 and 32164589 each reference one case with cleft lip and palate (although the latter had dual molecular findings) and PMID 40428346 had post-axial polydactyly. Although molar-tooth sign was present in a number of cases, there is no indication that prenatal abnormalities were detected in published cases.
Fetal anomalies v6.112 KIAA0556 Arina Puzriakova reviewed gene: KIAA0556: Rating: AMBER; Mode of pathogenicity: None; Publications: 26714646, 27245168, 31197031, 31197031, 36580738, 40725402, 40428346, 32164589, 30982090; Phenotypes: Joubert syndrome 26, OMIM:616784, Joubert syndrome 26, MONDO:0014771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.112 DISP1 Ida Ertmanska changed review comment from: There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1. Among fetal cases, there are only 2 biallelic cases with DISP1 variants alone. Other individuals harboured biallelic variants in DISP1, as well as potentially pathogenic variants in other genes. Digenic inheritance appears to be common for this condition.

PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).; to: PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).
Fetal anomalies v6.112 DISP1 Ida Ertmanska commented on gene: DISP1: Comment on mode of inheritance: There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1. Among fetal cases, there are only 2 biallelic cases with DISP1 variants alone. Other individuals harboured biallelic variants in DISP1, as well as potentially pathogenic variants in other genes. Digenic inheritance appears to be common for this condition. Gene tagged for expert review to decide the appropriate MOI.
Fetal anomalies v6.112 DISP1 Ida Ertmanska edited their review of gene: DISP1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.112 DISP1 Ida Ertmanska edited their review of gene: DISP1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.112 DISP1 Ida Ertmanska changed review comment from: MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1.

PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).; to: There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1. Among fetal cases, there are only 2 biallelic cases with DISP1 variants alone. Other individuals harboured biallelic variants in DISP1, as well as potentially pathogenic variants in other genes. Digenic inheritance appears to be common for this condition.

PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).
Fetal anomalies v6.112 DISP1 Ida Ertmanska edited their review of gene: DISP1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram changed review comment from: There are seven unrelated families reported with biallelic variants (either homozygous or compound heterozygous) in LAMC3 and cortical malformations. One these cases was a foetus reported with extensive posterior Periventricular nodular heterotopia (PMID:33639934).

In addition, PMID:30266093 (2018) reported a foetus with abnormalities identified via ultrasound and with compound heterozygous LAMC3 variants

Biallelic LAMC3 variants are associated with relevant phenotypes in OMIM (MIM #614115, record accessed on 21 October 2025) and Gene2Phenotype (with 'definitive' rating on the DD panel). This gene is also green with biallelic MOI on the Fetal anomalies panel of PanelApp Australia (https://panelapp-aus.org/panels/3763/gene/LAMC3/). Biallelic LAMC3 variants are not yet associated with any relevant phenotypes in ClinGen.

Monoallelic LAMC3 variants are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism expert panel in ClinGen (https://search.clinicalgenome.org/CCID:005265)

This was based on the following evidence:
Although over 25 unique variants have been reported in humans, autism spectrum disorder was the primary ascertainment for the largest number of individuals. Variants have also been reported in probands with intellectual disability and/or developmental delay. However, the variants were primarily identified in individuals with limited phenotype data from large cohort studies, and none had experimental evidence of gene impact (PMIDs: 21572417, 23160955, 27525107, 28191889, 28965761, 30564305, 31398340).

This gene should therefore remain green with Biallelic MOI on this panel.; to: There are seven unrelated families reported with biallelic variants (either homozygous or compound heterozygous) in LAMC3 and cortical malformations. One these cases was a foetus reported with extensive posterior Periventricular nodular heterotopia (PMID:33639934).

In addition, PMID:30266093 (2018) reported a foetus with abnormalities identified via ultrasound and with compound heterozygous LAMC3 variants

Biallelic LAMC3 variants are associated with relevant phenotypes in OMIM (MIM #614115, record accessed on 21 October 2025) and Gene2Phenotype (with 'definitive' rating on the DD panel). This gene is also green with biallelic MOI on the Fetal anomalies panel of PanelApp Australia (https://panelapp-aus.org/panels/3763/gene/LAMC3/). Biallelic LAMC3 variants are not yet associated with any relevant phenotypes in ClinGen.

Monoallelic LAMC3 variants are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism expert panel in ClinGen (https://search.clinicalgenome.org/CCID:005265)

This was based on the following evidence:
Although over 25 unique variants have been reported in humans, autism spectrum disorder was the primary ascertainment for the largest number of individuals. Variants have also been reported in probands with intellectual disability and/or developmental delay. However, the variants were primarily identified in individuals with limited phenotype data from large cohort studies, and none had experimental evidence of gene impact (PMIDs: 21572417, 23160955, 27525107, 28191889, 28965761, 30564305, 31398340).
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: The 'Disputed' rating on ClinGen is only relevant for monoallelic MOI. As there is sufficient evidence available for the association of biallelic variants with the phenotype, this gene should remain green on this panel with biallelic MOI.; to: Comment on list classification: The 'Disputed' rating on ClinGen is only relevant for monoallelic MOI. As there is sufficient evidence available for the association of biallelic variants with the phenotype, this gene should remain green with biallelic MOI on this panel.
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram Added comment: Comment on list classification: The 'Disputed' rating on ClinGen is only relevant for monoallelic MOI. As there is sufficient evidence available for the association of biallelic variants with the phenotype, this gene should remain green on this panel with biallelic MOI.
Fetal anomalies v6.111 CDK5 Eleanor Williams Phenotypes for gene: CDK5 were changed from Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342 to Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342; lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596
Fetal anomalies v6.110 SIX5 Arina Puzriakova Added comment: Comment on list classification: As the evidence for the association of SIX5 with branchio-oto-renal syndrome is disputed, this gene should be considered for demotion to red rating in the next GMS update.
Fetal anomalies v6.109 SIX5 Arina Puzriakova reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v6.107 LAMC3 Achchuthan Shanmugasundram reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21572413, 26802095, 29247375, 30266093, 33639934, 34354730; Phenotypes: Cortical malformations, occipital, OMIM:614115, occipital pachygyria and polymicrogyria, MONDO:0013583; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.105 PTBP1 Arina Puzriakova edited their review of gene: PTBP1: Changed rating: GREEN; Changed publications to: 40965981; Changed phenotypes to: Neurodevelopmental disorder, MONDO:0700092; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.105 PTBP1 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update based on 27 individuals from 25 families identified in PMID: 40965981 with start-loss (89%) or missense (11%) variants, confirmed de novo in 23/27 (plus 2 sibs with variant inherited from symptomatic mother, and segregation data unavailable in 2 others).

Skeletal anomalies were seen in 24 (89%), with the most prominent abnormalities comprising shortening and dysplasia of long bones and phalanges. Radiographic features included brachymetacarpia, brachymetatarsia, brachydactyly, brachytelephalangy, brachymesophalangy, and rhizomelia. Advanced bone maturation, cone-shaped epiphyses, and other features such as vertebral dysplasia were also observed.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update based on 27 individuals from 25 families identified in PMID: 40965981 with start-loss (89%) or missense (11%) variants, confirmed de novo in 23/27 (plus 2 sibs with variant inherited from symptomatic mother, and segregation data unavailable in 2 others).

Prenatal ultrasound was abnormal in thirteen (48%), revealing short femora (5/13, 38%), IUGR (31%), hydramnios (2/13, 15%), increased nuchal translucency (15%), asymmetry of heart cavities (1/13, 8%), and bilateral hydronephrosis (8%). It led to the diagnosis of skeletal dysplasia in two.
Fetal anomalies v6.103 PLD1 Arina Puzriakova commented on gene: PLD1: This gene was previously downgraded from Green to Amber following review by Jesse Hayesmoore highlighting the presence of homozygotes in population databases, including some patient variants. However, additional cases have continued to be published albeit often with limited information and no extensive functional studies. This gene-condition has been reviewed by multiple resources including:

- ClinGen: definitive (classified on 12-02-2024) - https://search.clinicalgenome.org/CCID:008897
- G2P: definitive (classified on 19-02-2025) - https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03704
- PanelApp Australia: green on multiple panels - https://panelapp-aus.org/panels/entities/PLD1
- OMIM (last updated on 30-09-2022) - https://www.omim.org/entry/212093

Given the classification on Genomics England PanelApp currently conflicts with multiple other resources, this gene will be flagged for additional expert review during the next GMS panel release.
Fetal anomalies v6.102 PLD1 Arina Puzriakova Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, OMIM:212093; Cardiomyopathy; Congenital heart malformations to Cardiac valvular dysplasia 1, OMIM:212093; Congenital heart malformations
Fetal anomalies v6.101 PLD1 Arina Puzriakova edited their review of gene: PLD1: Added comment: Additional cases reported (not reviewed previously):

- PMID: 38171566 - based on the abstract (translated from Chinese, full-text not available) a fetus with generalized edema, complex cardiac malformation, abdominal effusion, and enhanced intestinal and renal parenchymal echoes was identified with compound heterozygous variants (c.1460G>A (p.W487*); c.2977C>T (p.R993*)) in the PLD1 gene. No functional studies mentioned.

- PMID: 39553471 - a fetus with compound heterozygous variants (c.1937G>C (p.G646A); c.1062-59A>G) was found with congenital heart disease including pulmonary atresia, regurgitation and tricuspid valve dysplasia. In silico analysis of c.1062-59A>G indicated the variant affected splicing, and subsequent RT-PCR and TA clone sequencing revealed a 76-bp intron retention and skipping of exon 11, causing a frameshift and premature stop codon in PLD1. Both variants were classified as VUS according to ACMG guidelines.

- PMID: 39681445 - title 'A case of cardiac valvular dysplasia combined with dilated cardiomyopathy caused by a homozygous nonsense variant in PLD1' indicates there is another case of cardiomyopathy linked to this gene. However, the article and abstract are in Chinese and therefore cannot be curated further.; Changed publications to: 27799408, 33142350, 33645542, 35380090, 36923242, 37770978, 38171566, 39553471, 39681445; Changed phenotypes to: Cardiac valvular dysplasia 1, OMIM:212093; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.101 DISP1 Ida Ertmanska changed review comment from: MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1.

PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).; to: MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1.

PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).
Fetal anomalies v6.101 DISP1 Ida Ertmanska reviewed gene: DISP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38529886; Phenotypes: Holoprosencephaly 10, OMIM:621143; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.101 LINC01082 Ida Ertmanska edited their review of gene: LINC01082: Changed phenotypes to: Alveolar capillary dysplasia with misalignment of pulmonary veins
Fetal anomalies v6.101 LINC01081 Ida Ertmanska edited their review of gene: LINC01081: Changed phenotypes to: Alveolar capillary dysplasia with misalignment of pulmonary veins
Fetal anomalies v6.97 LINC01082 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).
Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16.

There is only 1 individual with ACDMPV where only LINC01082 has been deleted, without affecting FOXF1 or LINC01081 (PMID: 24842713). At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01082 Ida Ertmanska edited their review of gene: LINC01082: Changed publications to: 19500772, 23034409, 24842713, 27071622, 36157490, 40869921
Fetal anomalies v6.97 LINC01082 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common.

Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

Genomic positions reference (GRh37/hg19):
FOXF1 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).
Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01082 Ida Ertmanska Deleted their comment
Fetal anomalies v6.97 LINC01082 Ida Ertmanska commented on gene: LINC01082: Comment on list classification: Genes in the FOXF1 enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). There is only 1 individual with ACDMPV where only LINC01082 has been deleted, without affecting FOXF1 or LINC01081 (PMID: 24842713). At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Hence, the testing region should be expanded to include the enhancer.
The majority of CNVs arose de novo on the maternal allele - suspected imprinting of paternal allele.
Based on the available evidence, this gene should be rated GREEN for Alveolar capillary dysplasia with misalignment of pulmonary veins.
Fetal anomalies v6.97 LINC01082 Ida Ertmanska reviewed gene: LINC01082: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23034409, 24842713, 27071622; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.97 LINC01081 Ida Ertmanska edited their review of gene: LINC01081: Changed publications to: 19500772, 23034409, 24842713, 27071622, 36157490, 40869921
Fetal anomalies v6.97 LINC01081 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).
Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).
Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01081 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409). At least 10 other patients harboured a deletion that affected the FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).
Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01081 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409). At least 10 other patients harboured a deletion that affected the FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01081 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01081 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01081 Ida Ertmanska reviewed gene: LINC01081: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23034409, 24842713, 27071622; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.94 SIK3 Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 8th October 2025
Fetal anomalies v6.92 DST Eleanor Williams Phenotypes for gene: DST were changed from Arthrogryposis multiplex congenita to Arthrogryposis multiplex congenita, MONDO:0015168; arthrogryposis, MONDO:0859248; cardiomyopathy, MONDO:0004994; congenital myopathy, MONDO:0019952
Fetal anomalies v6.90 DST Eleanor Williams reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: 40497796, 35942699; Phenotypes: arthrogryposis, MONDO:0859248, cardiomyopathy, MONDO:0004994, congenital myopathy, MONDO:0019952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.90 EMX2 Ida Ertmanska commented on gene: EMX2: Comment on list classification: There are at least 4 unrelated families where individuals harbouring de novo variants in EMX2 have schizencephaly - a rare severe brain malformation, leading to neurologic deficits and developmental delay (PMIDs: 8528262, 9153481, 9359037). However, the 1996-1997 studies are limited by their sequencing method (targeted gene sequencing). Subsequent studies of 3 different schizencephaly patient cohorts showed that none of the 175 affected individuals carried pathogenic EMX2 mutations (PMIDs: 17506092, 18409201, 20157829).
No other schizencephaly cases with EMX2 variants were published in literature since 1997. Other genes, such as SIX3 and SHH, have been putatively linked to schizencephaly (PMID: 20157829). Furthermore, schizencephaly may stem from non-genetic causes, such as in utero viral infections, teratogen exposure, maternal trauma, and more (PMID: 18409201). Due to outdated / conflicting evidence, this gene should be downgraded to Amber for Fetal anomalies.
Fetal anomalies v6.90 EMX2 Ida Ertmanska reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 8528262, 9153481, 9359037, 17506092, 18409201, 20157829; Phenotypes: Schizencephaly, OMIM:269160, schizencephaly, MONDO:0010011; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.89 EMX2 Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 29th September 2025
Fetal anomalies v6.87 VSX2 Arina Puzriakova Phenotypes for gene: VSX2 were changed from MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES; MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3; MICROPHTHALMIA ISOLATED TYPE 2 to Microphthalmia, isolated 2, OMIM:610093; Microphthalmia/coloboma 3, OMIM:610092
Fetal anomalies v6.86 PDE12 Arina Puzriakova commented on gene: PDE12: Maintaining Amber rating following further consultation with the expert group - The concern is that the two prenatal presentations are very different. There is no link between brain anomalies and hydrops. The panel want to see more evidence that the gene is causing a prenatal phenotype and there is not another cause of these abnormalities in these families.
Fetal anomalies v6.85 NDUFB7 Arina Puzriakova commented on gene: NDUFB7: Following further consultation with the expert group, it was decided that this gene should be rated Green on this panel as there is sufficient evidence to support an association with a prenatal phenotype.
Fetal anomalies v6.85 FLII Arina Puzriakova commented on gene: FLII: Maintaining as Amber following further consultation with the expert group - this gene causes isolated cardiac anomalies which is not an indication for R21 fetal anomaly testing. However, we do want to monitor in case of new reports where it is not isolated.
Fetal anomalies v6.82 FLII Arina Puzriakova changed review comment from: New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.; to: New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional review as this rating contradicts the review comment "Sufficient evidence for gene-disease association and may present prenatally with structural heart defects in some cases" and this gene is tagged for promotion to Green on the R135 Paediatric or syndromic cardiomyopathy panel.
Fetal anomalies v6.82 C14orf80 Arina Puzriakova commented on gene: C14orf80: Added new-gene-name tag as the latest HGNC symbol for C14orf80 is TEDC1
Fetal anomalies v6.82 PDE12 Arina Puzriakova changed review comment from: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; to: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional expert review to resolve conflicting reviews - first reviewed as Green by Achchuthan Shanmugasundram but then as Amber by Alice Gardham based on the same evidence.
Fetal anomalies v6.82 NDUFB7 Arina Puzriakova edited their review of gene: NDUFB7: Changed rating: GREEN
Fetal anomalies v6.82 NDUFB7 Arina Puzriakova changed review comment from: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; to: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional expert review to resolve conflicting reviews - first reviewed as Green by me but then as Amber by Vicki Harrison based on the same evidence.
Fetal anomalies v6.82 ITGAV Arina Puzriakova changed review comment from: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; to: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.

Previously curated as Amber as only one family had fetal cases reported on; however as noted in Natalie Canham review, all affected individuals have brain anomalies which could be detected prenatally. Therefore this gene can be rated Green.
Fetal anomalies v6.78 TCP1 Arina Puzriakova Phenotypes for gene: TCP1 were changed from Intellectual developmental disorder with polymicrogyria and seizures to Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021
Fetal anomalies v6.75 SPOUT1 Arina Puzriakova Phenotypes for gene: SPOUT1 were changed from Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities to Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
Fetal anomalies v6.74 SLC35A3 Arina Puzriakova Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures, OMIM:615553 to Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
Fetal anomalies v6.73 RAB11B Arina Puzriakova Phenotypes for gene: RAB11B were changed from Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter; Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807
Fetal anomalies v6.72 PUS3 Arina Puzriakova Phenotypes for gene: PUS3 were changed from Neurodevelopmental disorder with microcephaly and gray sclerae to Neurodevelopmental disorder with microcephaly and gray sclerae, OMIM:617051
Fetal anomalies v6.71 PTEN Arina Puzriakova Phenotypes for gene: PTEN were changed from COWDEN DISEASE; Cowden syndrome 1; LHERMITTE-DUCLOS DISEASE; PROTEUS SYNDROME; MACROCEPHALY/AUTISM SYNDROME; BANNAYAN-ZONANA SYNDROME; VACTERL ASSOCIATION WITH HYDROCEPHALUS to Cowden syndrome 1, OMIM:158350
Fetal anomalies v6.69 PPFIBP1 Arina Puzriakova Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
Fetal anomalies v6.67 PIGW Arina Puzriakova Phenotypes for gene: PIGW were changed from Glycosylphosphatidylinositol biosynthesis defect 11 to Glycosylphosphatidylinositol biosynthesis defect 11, OMIM:616025
Fetal anomalies v6.66 PIGP Arina Puzriakova Phenotypes for gene: PIGP were changed from Developmental and epileptic encephalopathy 55 to Developmental and epileptic encephalopathy 55, OMIM:617599
Fetal anomalies v6.65 PIGG Arina Puzriakova Phenotypes for gene: PIGG were changed from Intellectual Disability with Seizures and Hypotonia; Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917; Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917
Fetal anomalies v6.64 PI4KA Arina Puzriakova Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Fetal anomalies v6.60 NEPRO Arina Puzriakova commented on gene: NEPRO: The 'new-gene-name' tag has been added to this gene as the latest HGNC gene symbol for NEPRO is RMP64.
Fetal anomalies v6.59 MIA3 Arina Puzriakova Phenotypes for gene: MIA3 were changed from Odontochondrodysplasia-2 with hearing loss and diabetes to Ondontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
Fetal anomalies v6.58 MED11 Arina Puzriakova Phenotypes for gene: MED11 were changed from Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327
Fetal anomalies v6.51 HNRNPU Arina Puzriakova Phenotypes for gene: HNRNPU were changed from EPILEPTIC ENCEPHALOPATHY; Developmental and epileptic encephalopathy 54 to Developmental and epileptic encephalopathy 54, OMIM:617391
Fetal anomalies v6.49 GEMIN4 Arina Puzriakova Phenotypes for gene: GEMIN4 were changed from Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913
Fetal anomalies v6.46 EXOC6B Arina Puzriakova Phenotypes for gene: EXOC6B were changed from Spondyloepimetaphyseal dysplasia with joint laxity, type 3 to Spondyloepimetaphyseal dysplasia with joint laxity, type 3, OMIM:618395
Fetal anomalies v6.44 EEFSEC Arina Puzriakova Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder with progressive spasticity and brain abnormalities to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, OMIM:621102
Fetal anomalies v6.40 COMP Arina Puzriakova Phenotypes for gene: COMP were changed from Pseudoachondroplasia; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1; Epiphyseal dysplasia, multiple, 1; ARE THE CAUSE OF PSEUDOACHONDROPLASIA to Epiphyseal dysplasia, multiple, 1, OMIM:132400; Pseudoachondroplasia, OMIM:177170
Fetal anomalies v6.39 COL25A1 Arina Puzriakova Phenotypes for gene: COL25A1 were changed from Arthrogryposis multiplex congenita, MONDO:0015168; Arthrogryposis multiplex congenita to Arthrogryposis multiplex congenita, MONDO:0015168
Fetal anomalies v6.36 CDK5 Arina Puzriakova Phenotypes for gene: CDK5 were changed from Lissencephaly 7 with cerebellar hypoplasia to Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342
Fetal anomalies v6.34 ARL2BP Arina Puzriakova Phenotypes for gene: ARL2BP were changed from Situs Inversus to Retinitis pigmentosa 82 with or without situs inversus, OMIM:615434; Situs Inversus
Fetal anomalies v6.32 AGRN Arina Puzriakova Phenotypes for gene: AGRN were changed from Fetal akinesia deformation sequence, MONDO:0008824; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects to Fetal akinesia deformation sequence, MONDO:0008824; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120
Fetal anomalies v6.30 MYH9 Arina Puzriakova Phenotypes for gene: MYH9 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 17; MAY-HEGGLIN ANOMALY; SEBASTIAN SYNDROME; FECHTNER SYNDROME; EPSTEIN SYNDROME; Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS to Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Fetal anomalies v6.29 CDH11 Arina Puzriakova reviewed gene: CDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FAAP100 Arina Puzriakova reviewed gene: FAAP100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BORCS5 Arina Puzriakova reviewed gene: BORCS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAGED2 Arina Puzriakova reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZNRF3 Arina Puzriakova reviewed gene: ZNRF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZNHIT3 Arina Puzriakova reviewed gene: ZNHIT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZNF808 Arina Puzriakova reviewed gene: ZNF808: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZMYND11 Arina Puzriakova reviewed gene: ZMYND11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZEB1 Arina Puzriakova reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 WDR47 Arina Puzriakova reviewed gene: WDR47: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 UNC50 Arina Puzriakova reviewed gene: UNC50: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 UNC13D Arina Puzriakova edited their review of gene: UNC13D: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN
Fetal anomalies v6.29 TPM1 Arina Puzriakova reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 C14orf80 Arina Puzriakova reviewed gene: C14orf80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 TCP1 Arina Puzriakova reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 TCF20 Arina Puzriakova reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 TAAR1 Arina Puzriakova reviewed gene: TAAR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SUPT7L Arina Puzriakova reviewed gene: SUPT7L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 STXBP2 Arina Puzriakova reviewed gene: STXBP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 STX5 Arina Puzriakova reviewed gene: STX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 STX11 Arina Puzriakova reviewed gene: STX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SRPK3 Arina Puzriakova reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SRP54 Arina Puzriakova reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SPTA1 Arina Puzriakova edited their review of gene: SPTA1: Added comment: Upgraded from Red to Amber but there is sufficient evidence to make Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' as per the review.; Changed rating: GREEN
Fetal anomalies v6.29 SPOUT1 Arina Puzriakova reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SNAPC4 Arina Puzriakova reviewed gene: SNAPC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SLC35A3 Arina Puzriakova reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SLC30A5 Arina Puzriakova reviewed gene: SLC30A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SLC19A1 Arina Puzriakova reviewed gene: SLC19A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SLC12A9 Arina Puzriakova reviewed gene: SLC12A9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SIRT6 Arina Puzriakova reviewed gene: SIRT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SENP7 Arina Puzriakova reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SEL1L Arina Puzriakova reviewed gene: SEL1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RPL26 Arina Puzriakova reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RNU5B-1 Arina Puzriakova reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RNU5A-1 Arina Puzriakova reviewed gene: RNU5A-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RNF31 Arina Puzriakova reviewed gene: RNF31: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RIPPLY2 Arina Puzriakova reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RBFOX2 Arina Puzriakova reviewed gene: RBFOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RAB11B Arina Puzriakova reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PYGL Arina Puzriakova reviewed gene: PYGL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PUS3 Arina Puzriakova reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PURA Arina Puzriakova reviewed gene: PURA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PTEN Arina Puzriakova reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PSKH1 Arina Puzriakova reviewed gene: PSKH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PROC Arina Puzriakova reviewed gene: PROC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PPFIBP1 Arina Puzriakova reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PPFIA3 Arina Puzriakova reviewed gene: PPFIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 POU3F3 Arina Puzriakova reviewed gene: POU3F3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PLVAP Arina Puzriakova reviewed gene: PLVAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PLAA Arina Puzriakova reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGW Arina Puzriakova reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGQ Arina Puzriakova reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGP Arina Puzriakova reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGM Arina Puzriakova reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGG Arina Puzriakova reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGC Arina Puzriakova reviewed gene: PIGC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PI4KA Arina Puzriakova reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PHF5A Arina Puzriakova reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PDE12 Arina Puzriakova reviewed gene: PDE12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PDCD2 Arina Puzriakova reviewed gene: PDCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PAK2 Arina Puzriakova reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PAICS Arina Puzriakova reviewed gene: PAICS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 OSBPL9 Arina Puzriakova reviewed gene: OSBPL9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ODC1 Arina Puzriakova reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NUP214 Arina Puzriakova reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NT5E Arina Puzriakova reviewed gene: NT5E: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NR2F1 Arina Puzriakova reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NODAL Arina Puzriakova reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NMNAT1 Arina Puzriakova reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NKX2-6 Arina Puzriakova reviewed gene: NKX2-6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NFASC Arina Puzriakova reviewed gene: NFASC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NEXN Arina Puzriakova edited their review of gene: NEXN: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' as per the review.; Changed rating: GREEN
Fetal anomalies v6.29 NEUROD1 Arina Puzriakova reviewed gene: NEUROD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NEPRO Arina Puzriakova reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NDUFB7 Arina Puzriakova edited their review of gene: NDUFB7: Added comment: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: AMBER
Fetal anomalies v6.29 NAGS Arina Puzriakova reviewed gene: NAGS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NAGLU Arina Puzriakova reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MYL2 Arina Puzriakova reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MYH9 Arina Puzriakova reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MSL2 Arina Puzriakova reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MPL Arina Puzriakova reviewed gene: MPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MIA3 Arina Puzriakova reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MET Arina Puzriakova reviewed gene: MET: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MED11 Arina Puzriakova reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAPK1 Arina Puzriakova reviewed gene: MAPK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAP3K3 Arina Puzriakova reviewed gene: MAP3K3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAN2B2 Arina Puzriakova reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAL Arina Puzriakova reviewed gene: MAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LSS Arina Puzriakova reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LRRC8C Arina Puzriakova reviewed gene: LRRC8C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LIPN Arina Puzriakova reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LGI3 Arina Puzriakova reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LDB1 Arina Puzriakova reviewed gene: LDB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LAGE3 Arina Puzriakova reviewed gene: LAGE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KMT2E Arina Puzriakova reviewed gene: KMT2E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 C12orf66 Arina Puzriakova reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KDM6B Arina Puzriakova reviewed gene: KDM6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KDM1A Arina Puzriakova reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KCNH2 Arina Puzriakova reviewed gene: KCNH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KCNB1 Arina Puzriakova reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KBTBD2 Arina Puzriakova reviewed gene: KBTBD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KAT7 Arina Puzriakova reviewed gene: KAT7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 JPH1 Arina Puzriakova reviewed gene: JPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ITGAV Arina Puzriakova reviewed gene: ITGAV: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 IRF4 Arina Puzriakova reviewed gene: IRF4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 IFT27 Arina Puzriakova reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 HNRNPU Arina Puzriakova reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 HIRA Arina Puzriakova reviewed gene: HIRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 HECTD1 Arina Puzriakova reviewed gene: HECTD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 HDAC3 Arina Puzriakova reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GUK1 Arina Puzriakova reviewed gene: GUK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GTPBP1 Arina Puzriakova reviewed gene: GTPBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GNS Arina Puzriakova reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GNPNAT1 Arina Puzriakova reviewed gene: GNPNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GNAI2 Arina Puzriakova reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GEMIN4 Arina Puzriakova reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GDAP1 Arina Puzriakova reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GATA5 Arina Puzriakova reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GALT Arina Puzriakova reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 G6PD Arina Puzriakova reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FLVCR1 Arina Puzriakova reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FLII Arina Puzriakova reviewed gene: FLII: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FGG Arina Puzriakova reviewed gene: FGG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FBXW11 Arina Puzriakova reviewed gene: FBXW11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FBXO22 Arina Puzriakova reviewed gene: FBXO22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FAM177A1 Arina Puzriakova reviewed gene: FAM177A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 EXOSC8 Arina Puzriakova reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 EXOC6B Arina Puzriakova reviewed gene: EXOC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ERG Arina Puzriakova reviewed gene: ERG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 EFL1 Arina Puzriakova reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 EEFSEC Arina Puzriakova reviewed gene: EEFSEC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DVL2 Arina Puzriakova reviewed gene: DVL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DTNA Arina Puzriakova reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DST Arina Puzriakova reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DSE Arina Puzriakova reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DSC2 Arina Puzriakova reviewed gene: DSC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DOHH Arina Puzriakova reviewed gene: DOHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DNAJC21 Arina Puzriakova reviewed gene: DNAJC21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DHX9 Arina Puzriakova reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DHRSX Arina Puzriakova reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DDX17 Arina Puzriakova reviewed gene: DDX17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DAND5 Arina Puzriakova reviewed gene: DAND5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CYP24A1 Arina Puzriakova reviewed gene: CYP24A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 COQ2 Arina Puzriakova reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 COMP Arina Puzriakova reviewed gene: COMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 COL25A1 Arina Puzriakova reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 C1orf127 Arina Puzriakova commented on gene: C1orf127: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Fetal anomalies v6.29 CHAF1A Arina Puzriakova reviewed gene: CHAF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CFI Arina Puzriakova reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CELSR1 Arina Puzriakova edited their review of gene: CELSR1: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN
Fetal anomalies v6.29 CDK5 Arina Puzriakova reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CCT8 Arina Puzriakova reviewed gene: CCT8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CCT6A Arina Puzriakova reviewed gene: CCT6A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CCT3 Arina Puzriakova reviewed gene: CCT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CTGF Arina Puzriakova reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BRD2 Arina Puzriakova reviewed gene: BRD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BORCS8 Arina Puzriakova reviewed gene: BORCS8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BICRA Arina Puzriakova reviewed gene: BICRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BHLHE22 Arina Puzriakova reviewed gene: BHLHE22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BAIAP2 Arina Puzriakova reviewed gene: BAIAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ASCC3 Arina Puzriakova reviewed gene: ASCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ARPC5 Arina Puzriakova reviewed gene: ARPC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ARL6IP1 Arina Puzriakova reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ARL2BP Arina Puzriakova reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 AGT Arina Puzriakova edited their review of gene: AGT: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN
Fetal anomalies v6.29 AGRN Arina Puzriakova edited their review of gene: AGRN: Added comment: Upgraded from Red to Amber but there is sufficient evidence to make Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN
Fetal anomalies v6.29 ACTN2 Arina Puzriakova reviewed gene: ACTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ACO2 Arina Puzriakova edited their review of gene: ACO2: Added comment: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: AMBER
Fetal anomalies v6.28 CDH11 Natalie Chandler commented on gene: CDH11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FAAP100 Sarah Graham commented on gene: FAAP100: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BORCS5 Sarah Graham commented on gene: BORCS5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAGED2 Sarah Graham commented on gene: MAGED2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZNRF3 Sarah Graham commented on gene: ZNRF3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZNHIT3 Sarah Graham commented on gene: ZNHIT3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZNF808 Elizabeth Wall commented on gene: ZNF808: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZMYND11 Natalie Bibb commented on gene: ZMYND11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZEB1 Sarah Graham commented on gene: ZEB1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 WDR47 Sarah Graham commented on gene: WDR47: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 UNC50 Sarah Graham commented on gene: UNC50: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 UNC13D Anna de Burca commented on gene: UNC13D: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 TPM1 Alice Gardham commented on gene: TPM1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 C14orf80 Sunayna Best commented on gene: C14orf80: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 TCP1 Natalie Bibb commented on gene: TCP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 TCF20 Stephanie Allen commented on gene: TCF20: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 TAAR1 Sarah Graham commented on gene: TAAR1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SUPT7L Soo-Mi Park commented on gene: SUPT7L: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 STXBP2 Alice Gardham commented on gene: STXBP2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 STX5 Sahar Mansour commented on gene: STX5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 STX11 Vicki Harrison commented on gene: STX11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SRPK3 Sarah Graham commented on gene: SRPK3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SRP54 Stephanie Allen commented on gene: SRP54: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SPTA1 Sarah Graham commented on gene: SPTA1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SPOUT1 Sunayna Best commented on gene: SPOUT1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SNAPC4 Esther Kinning commented on gene: SNAPC4: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SLC35A3 Sunayna Best commented on gene: SLC35A3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SLC30A5 Natalie Chandler commented on gene: SLC30A5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SLC19A1 Soo-Mi Park commented on gene: SLC19A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SLC12A9 Sarah Graham commented on gene: SLC12A9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SIRT6 Natalie Canham commented on gene: SIRT6: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SENP7 Natalie Bibb commented on gene: SENP7: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SEL1L Anna de Burca commented on gene: SEL1L: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RPL26 Elizabeth Wall commented on gene: RPL26: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RNU5B-1 Natalie Chandler commented on gene: RNU5B-1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RNU5A-1 Natalie Chandler commented on gene: RNU5A-1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RNF31 Natalie Chandler commented on gene: RNF31: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RIPPLY2 Sahar Mansour commented on gene: RIPPLY2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RBFOX2 Anna de Burca commented on gene: RBFOX2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RAB11B Sahar Mansour commented on gene: RAB11B: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PYGL Soo-Mi Park commented on gene: PYGL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PUS3 Elizabeth Scotchman commented on gene: PUS3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PURA Natalie Canham commented on gene: PURA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PTEN Sunayna Best commented on gene: PTEN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PSKH1 Sarah Graham commented on gene: PSKH1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PROC Elizabeth Wall commented on gene: PROC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PPFIBP1 Stephanie Allen commented on gene: PPFIBP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PPFIA3 Stephanie Allen commented on gene: PPFIA3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 POU3F3 Natalie Chandler commented on gene: POU3F3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PLVAP Alice Gardham commented on gene: PLVAP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PLAA Stephanie Allen commented on gene: PLAA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGW Sahar Mansour commented on gene: PIGW: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGQ Esther Kinning commented on gene: PIGQ: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGP Elizabeth Wall commented on gene: PIGP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGM Elizabeth Scotchman commented on gene: PIGM: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGG Anna de Burca commented on gene: PIGG: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGC Alice Gardham commented on gene: PIGC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PI4KA Anna de Burca commented on gene: PI4KA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PHF5A Vicki Harrison commented on gene: PHF5A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PDE12 Alice Gardham commented on gene: PDE12: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PDCD2 Soo-Mi Park commented on gene: PDCD2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PAK2 Sarah Graham commented on gene: PAK2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PAICS Sunayna Best commented on gene: PAICS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 OSBPL9 Natalie Chandler commented on gene: OSBPL9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ODC1 Anna de Burca commented on gene: ODC1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NUP214 Stephanie Allen commented on gene: NUP214: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NT5E Natalie Chandler commented on gene: NT5E: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NR2F1 Soo-Mi Park commented on gene: NR2F1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NODAL Natalie Chandler commented on gene: NODAL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NMNAT1 Natalie Chandler commented on gene: NMNAT1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NKX2-6 Sunayna Best commented on gene: NKX2-6: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NFASC Natalie Bibb commented on gene: NFASC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NEXN Sarah Graham commented on gene: NEXN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NEUROD1 Soo-Mi Park commented on gene: NEUROD1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NEPRO Natalie Canham commented on gene: NEPRO: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NDUFB7 Vicki Harrison commented on gene: NDUFB7: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NAGS Elizabeth Wall commented on gene: NAGS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NAGLU Sarah Graham commented on gene: NAGLU: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MYL2 Vicki Harrison commented on gene: MYL2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MYH9 Natalie Chandler commented on gene: MYH9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MSL2 Natalie Chandler commented on gene: MSL2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MPL Elizabeth Scotchman commented on gene: MPL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MIA3 Sarah Graham commented on gene: MIA3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MET Stephanie Allen commented on gene: MET: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MED11 Soo-Mi Park commented on gene: MED11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAPK1 Sarah Graham commented on gene: MAPK1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAP3K3 Alice Gardham commented on gene: MAP3K3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAN2B2 Sarah Graham commented on gene: MAN2B2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAL Sahar Mansour commented on gene: MAL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LSS Natalie Chandler commented on gene: LSS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LRRC8C Vicki Harrison commented on gene: LRRC8C: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LIPN Stephanie Allen commented on gene: LIPN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LGI3 Soo-Mi Park commented on gene: LGI3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LDB1 Vicki Harrison commented on gene: LDB1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LAGE3 Natalie Chandler commented on gene: LAGE3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KMT2E Natalie Bibb commented on gene: KMT2E: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 C12orf66 Sahar Mansour commented on gene: C12orf66: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KDM6B Sunayna Best commented on gene: KDM6B: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KDM1A Esther Kinning commented on gene: KDM1A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KCNH2 Sahar Mansour commented on gene: KCNH2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KCNB1 Soo-Mi Park commented on gene: KCNB1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KBTBD2 Esther Kinning commented on gene: KBTBD2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KAT7 Natalie Chandler commented on gene: KAT7: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 JPH1 Sarah Graham commented on gene: JPH1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ITGAV Natalie Canham commented on gene: ITGAV: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 IRF4 Natalie Chandler commented on gene: IRF4: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 IFT27 Sahar Mansour commented on gene: IFT27: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 HNRNPU Sarah Graham commented on gene: HNRNPU: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 HIRA Sarah Graham commented on gene: HIRA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 HECTD1 Sarah Graham commented on gene: HECTD1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 HDAC3 Sarah Graham commented on gene: HDAC3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GUK1 Esther Kinning commented on gene: GUK1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GTPBP1 Natalie Chandler commented on gene: GTPBP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GNS Sarah Graham commented on gene: GNS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GNPNAT1 Vicki Harrison commented on gene: GNPNAT1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GNAI2 Sarah Graham commented on gene: GNAI2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GEMIN4 Sahar Mansour commented on gene: GEMIN4: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GDAP1 Alice Gardham commented on gene: GDAP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GATA5 Natalie Chandler commented on gene: GATA5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GALT Sarah Graham commented on gene: GALT: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 G6PD Sarah Graham commented on gene: G6PD: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FLVCR1 Natalie Canham commented on gene: FLVCR1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FLII Sarah Graham commented on gene: FLII: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FGG Natalie Canham commented on gene: FGG: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FBXW11 Elizabeth Scotchman commented on gene: FBXW11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FBXO22 Natalie Bibb commented on gene: FBXO22: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FAM177A1 Vicki Harrison commented on gene: FAM177A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 EXOSC8 Sarah Graham commented on gene: EXOSC8: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 EXOC6B Natalie Bibb commented on gene: EXOC6B: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ERG Sunayna Best commented on gene: ERG: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 EFL1 Esther Kinning commented on gene: EFL1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 EEFSEC Natalie Chandler commented on gene: EEFSEC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DVL2 Natalie Bibb commented on gene: DVL2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DTNA Natalie Bibb commented on gene: DTNA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DST Sarah Graham commented on gene: DST: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DSE Natalie Chandler commented on gene: DSE: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DSC2 Alice Gardham commented on gene: DSC2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DOHH Esther Kinning commented on gene: DOHH: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DNAJC21 Elizabeth Wall commented on gene: DNAJC21: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DHX9 Elizabeth Scotchman commented on gene: DHX9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DHRSX Elizabeth Scotchman commented on gene: DHRSX: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DDX17 Elizabeth Scotchman commented on gene: DDX17: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DAND5 Elizabeth Wall commented on gene: DAND5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CYP24A1 Natalie Chandler commented on gene: CYP24A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 COQ2 Anna de Burca commented on gene: COQ2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 COMP Elizabeth Wall commented on gene: COMP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 COL25A1 Sarah Graham commented on gene: COL25A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 C1orf127 Elizabeth Scotchman commented on gene: C1orf127: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CHAF1A Elizabeth Wall commented on gene: CHAF1A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CFI Esther Kinning commented on gene: CFI: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CELSR1 Sarah Graham commented on gene: CELSR1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CDK5 Sarah Graham commented on gene: CDK5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CCT8 Sarah Graham commented on gene: CCT8: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CCT6A Sarah Graham commented on gene: CCT6A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CCT3 Natalie Canham commented on gene: CCT3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CTGF Elizabeth Scotchman commented on gene: CTGF: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BRD2 Natalie Canham commented on gene: BRD2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BORCS8 Natalie Canham commented on gene: BORCS8: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BICRA Natalie Chandler commented on gene: BICRA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BHLHE22 Sarah Graham commented on gene: BHLHE22: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BAIAP2 Anna de Burca commented on gene: BAIAP2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ASCC3 Anna de Burca commented on gene: ASCC3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ARPC5 Stephanie Allen commented on gene: ARPC5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ARL6IP1 Alice Gardham commented on gene: ARL6IP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ARL2BP Vicki Harrison commented on gene: ARL2BP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 AGT Esther Kinning commented on gene: AGT: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 AGRN Alice Gardham commented on gene: AGRN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ACTN2 Natalie Chandler commented on gene: ACTN2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ACO2 Natalie Chandler commented on gene: ACO2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support the association with Myotonic dystrophy. This STR is Green on multiple GMS panels meaning that it has been approved by the NHS STR working group and can be promoted to Green on this panel at the next GMS panel update.
Fetal anomalies v6.26 XYLT1_GCC Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support an association with Desbuquois dysplasia, however, this STR is currently not green on any panels as it has not been approved by the NHS STR working group and is not NGS validated. Therefore the Red rating will be maintained for now.
Fetal anomalies v6.25 CNBP_CCTG Arina Puzriakova Added comment: Comment on list classification: This STR was downgraded from Amber to Red inline with the Red review by the R21 Clinical Oversight Group.
Fetal anomalies v6.24 DMPK_CTG Arina Puzriakova commented on STR: DMPK_CTG: This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.24 XYLT1_GCC Arina Puzriakova commented on STR: XYLT1_GCC: This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.24 CNBP_CCTG Arina Puzriakova commented on STR: CNBP_CCTG: This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.24 XYLT1_GCC Arina Puzriakova reviewed STR: XYLT1_GCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 22711505, 30554721; Phenotypes: Desbuquois dysplasia 2, OMIM:615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DMPK_CTG Arina Puzriakova edited their review of STR: DMPK_CTG: Added comment: Green expert review added on behalf of Sunayna Best (Leeds Teaching Hospitals NHS Trust), as part of a review of this panel by the R21 Clinical Oversight Group:

"Prenatal presentations of DM1 have been associated with nonspecific ultrasound findings such as clubbed foot, polyhydramnios, ventriculomegaly, and decreased fetal movement. Few published cases include prenatal neuroimaging findings, and ventriculomegaly has been described Shear et al, 2024: report expansion of the prenatal phenotype of DM1 with fetal SVT and frontal bossing with dilated subarachnoid spaces."; Changed rating: GREEN; Changed phenotypes to: Myotonic dystrophy 1; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 CNBP_CCTG Arina Puzriakova changed review comment from: Red expert review added on behalf of Alice Gardham (North West Thames Genetics), as part of a review of this panel by the R21 Clinical Oversight Group:

Myotonic dytrophy 2 - no fetal presentation.; to: Red expert review added on behalf of Alice Gardham (North West Thames Genetics), as part of a review of this panel by the R21 Clinical Oversight Group:

"Myotonic dytrophy 2 - no fetal presentation."
Fetal anomalies v6.24 CNBP_CCTG Arina Puzriakova edited their review of STR: CNBP_CCTG: Added comment: Red expert review added on behalf of Alice Gardham (North West Thames Genetics), as part of a review of this panel by the R21 Clinical Oversight Group:

Myotonic dytrophy 2 - no fetal presentation.; Changed rating: RED
Fetal anomalies v6.24 CDH11 Natalie Chandler reviewed gene: CDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: 29271567, 33811546; Phenotypes: Elsahy-Waters syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 FAAP100 Sarah Graham reviewed gene: FAAP100: Rating: GREEN; Mode of pathogenicity: ; Publications: 40232843, 40244696; Phenotypes: Fanconi anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 BORCS5 Sarah Graham reviewed gene: BORCS5: Rating: GREEN; Mode of pathogenicity: ; Publications: 40385417; Phenotypes: Arthrogryposis multiplex congenita, brain malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MAGED2 Sarah Graham reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 5, antenatal, transient; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.24 ZNRF3 Sarah Graham reviewed gene: ZNRF3: Rating: AMBER; Mode of pathogenicity: ; Publications: 39168120; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 ZNHIT3 Sarah Graham reviewed gene: ZNHIT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 39252897, 28335020; Phenotypes: PEHO syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ZNF808 Elizabeth Wall reviewed gene: ZNF808: Rating: RED; Mode of pathogenicity: ; Publications: 37973953, 37308312; Phenotypes: Pancreatic agenesis 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ZMYND11 Natalie Bibb reviewed gene: ZMYND11: Rating: AMBER; Mode of pathogenicity: ; Publications: 39521787; Phenotypes: Intellectual developmental disorder, autosomal dominant 30; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 ZEB1 Sarah Graham reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37857482; Phenotypes: Anomalies of the corpus callosum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 WDR47 Sarah Graham reviewed gene: WDR47: Rating: GREEN; Mode of pathogenicity: ; Publications: 39609633; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 UNC50 Sarah Graham reviewed gene: UNC50: Rating: AMBER; Mode of pathogenicity: ; Publications: 33820833, 40219868, 29016857; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 UNC13D Anna de Burca reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: ; Publications: 33082562, 29262924, 21646258; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 TPM1 Alice Gardham reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33553264; Phenotypes: Left ventricular noncompaction 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 C14orf80 Sunayna Best reviewed gene: C14orf80: Rating: AMBER; Mode of pathogenicity: ; Publications: 39979680; Phenotypes: severe growth impairment and endocrine complications; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 TCP1 Natalie Bibb reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: Intellectual developmental disorder with polymicrogyria and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 TCF20 Stephanie Allen reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: ; Publications: 30819258, 40066675; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 TAAR1 Sarah Graham reviewed gene: TAAR1: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Cerebellar vermis hypoplasia, cystic kidneys, polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SUPT7L Soo-Mi Park reviewed gene: SUPT7L: Rating: RED; Mode of pathogenicity: ; Publications: 38592547; Phenotypes: Fischer-Zirnsak progeroid syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 STXBP2 Alice Gardham reviewed gene: STXBP2: Rating: RED; Mode of pathogenicity: ; Publications: 38084697, 33593331; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 STX5 Sahar Mansour reviewed gene: STX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 34711829; Phenotypes: Congenital disorder of glycosylation, type IIaa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 STX11 Vicki Harrison reviewed gene: STX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4, OMIM:603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SRPK3 Sarah Graham reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39073169; Phenotypes: X-linked intellectual developmental disorder-114; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.24 SRP54 Stephanie Allen reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: ; Publications: 28972538, 29914977; Phenotypes: Neutropenia, severe congenital, 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 SPTA1 Sarah Graham reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31333484, 34132406, 30198572, 38031483; Phenotypes: Hereditary pyropoikilocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SPOUT1 Sunayna Best reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39962046; Phenotypes: Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SNAPC4 Esther Kinning reviewed gene: SNAPC4: Rating: AMBER; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SLC35A3 Sunayna Best reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777481, 24031089, 28328131, 33416188; Phenotypes: Arthrogryposis, mental retardation, and seizures, OMIM:615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SLC30A5 Natalie Chandler reviewed gene: SLC30A5: Rating: AMBER; Mode of pathogenicity: ; Publications: 39790720, 12095919, 33547425; Phenotypes: Cardiomyopathy, hydrops fetalis, or cystic hygroma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SLC19A1 Soo-Mi Park reviewed gene: SLC19A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32276275, 11266438, 36745868, 36517554; Phenotypes: Immunodeficiency 114, folate-responsive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SLC12A9 Sarah Graham reviewed gene: SLC12A9: Rating: GREEN; Mode of pathogenicity: ; Publications: 38334070; Phenotypes: SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SIRT6 Natalie Canham reviewed gene: SIRT6: Rating: AMBER; Mode of pathogenicity: ; Publications: 29555651, 30135584; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SENP7 Natalie Bibb reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 37460201, 39763084; Phenotypes: Fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SEL1L Anna de Burca reviewed gene: SEL1L: Rating: AMBER; Mode of pathogenicity: ; Publications: 37943610, 37943617; Phenotypes: Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 RPL26 Elizabeth Wall reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: 22431104, 39268718; Phenotypes: Diamond-Blackfan anaemia 11, OMIM:614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 RNU5B-1 Natalie Chandler reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40379786; Phenotypes: Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 RNU5A-1 Natalie Chandler reviewed gene: RNU5A-1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40379786; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 RNF31 Natalie Chandler reviewed gene: RNF31: Rating: RED; Mode of pathogenicity: ; Publications: 30936877, 26008899; Phenotypes: Immunodeficiency 115 with autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 RIPPLY2 Sahar Mansour reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32212228, 33410135, 25343988, 26238661; Phenotypes: Spondylocostal dysostosis 6, OMIM:616566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 RBFOX2 Anna de Burca reviewed gene: RBFOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: 35137168, 27485310, 27670201, 26785492, 25205790, 37165897; Phenotypes: Congenital heart disease, MONDO:0005453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 RAB11B Sahar Mansour reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: ; Publications: 39502218; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PYGL Soo-Mi Park reviewed gene: PYGL: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Glycogen storage disease VI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v6.24 PUS3 Elizabeth Scotchman reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27055666, 30697592, 31444731, 39891418, 30308082; Phenotypes: Neurodevelopmental disorder with microcephaly and gray sclerae; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PURA Natalie Canham reviewed gene: PURA: Rating: RED; Mode of pathogenicity: ; Publications: 39521787; Phenotypes: Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PTEN Sunayna Best reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 40261085; Phenotypes: Cowden syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PSKH1 Sarah Graham reviewed gene: PSKH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39132680; Phenotypes: hepatorenal syndrome, MONDO:0001382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PROC Elizabeth Wall reviewed gene: PROC: Rating: AMBER; Mode of pathogenicity: ; Publications: 39763161; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PPFIBP1 Stephanie Allen reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35830857, 37229200; Phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PPFIA3 Stephanie Allen reviewed gene: PPFIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38508193, 38181735, 37034625, 38723631; Phenotypes: Paul-Chao neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 POU3F3 Natalie Chandler reviewed gene: POU3F3: Rating: AMBER; Mode of pathogenicity: ; Publications: 37593446, 31303265; Phenotypes: Snijders Blok-Fisher syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PLVAP Alice Gardham reviewed gene: PLVAP: Rating: AMBER; Mode of pathogenicity: ; Publications: 26207260, 29875123, 29661969, 31215290; Phenotypes: Diarrhoea 10, protein-losing enteropathy type, OMIM:618183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PLAA Stephanie Allen reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 38650658, 28413018, 28007986, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGW Sahar Mansour reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: 40180615; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGQ Esther Kinning reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: ; Publications: 24463883, 31148362, 25558065, 32588908; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGP Elizabeth Wall reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: ; Publications: 32042915, 28334793, 31139695; Phenotypes: Developmental and epileptic encephalopathy 55; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGM Elizabeth Scotchman reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: ; Publications: 25293775, 16767100; Phenotypes: Glycosylphosphatidylinositol deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGG Anna de Burca reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: ; Publications: 34113002, 26996948; Phenotypes: Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGC Alice Gardham reviewed gene: PIGC: Rating: AMBER; Mode of pathogenicity: ; Publications: 32707268, 27694521; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 16; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PI4KA Anna de Burca reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PHF5A Vicki Harrison reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37422718, 33811463; Phenotypes: PHF5A-related neurodevelopmental disorder with congenital malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PDE12 Alice Gardham reviewed gene: PDE12: Rating: AMBER; Mode of pathogenicity: ; Publications: 39567835; Phenotypes: Mitochondrial disease, MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PDCD2 Soo-Mi Park reviewed gene: PDCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40208938; Phenotypes: hydrops fetalis and early pregnancy loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PAK2 Sarah Graham reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40262506, 37808560, 39876536, 33693784, 38894571, 39994693; Phenotypes: Knobloch syndrome 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PAICS Sunayna Best reviewed gene: PAICS: Rating: GREEN; Mode of pathogenicity: ; Publications: 31178128, 38179855, 3965093, 30758658; Phenotypes: Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 OSBPL9 Natalie Chandler reviewed gene: OSBPL9: Rating: RED; Mode of pathogenicity: ; Publications: 40182349; Phenotypes: Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ODC1 Anna de Burca reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40188065; Phenotypes: Bachmann-Bupp syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 NUP214 Stephanie Allen reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: 31178128, 39650934, 30758658; Phenotypes: Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NT5E Natalie Chandler reviewed gene: NT5E: Rating: RED; Mode of pathogenicity: ; Publications: 26010187, 34999808, 26178434, 21288095, 32522903, 28825389, 27045881; Phenotypes: arterial calcification, joint calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NR2F1 Soo-Mi Park reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31318166, 32712214, 36221391, 32484994, 40066675; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v6.24 NODAL Natalie Chandler reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: ; Publications: 19064609, 9354794; Phenotypes: Heterotaxy, visceral, 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 NMNAT1 Natalie Chandler reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NKX2-6 Sunayna Best reviewed gene: NKX2-6: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Conotruncal heart malformations, Persistent truncus arteriosus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NFASC Natalie Bibb reviewed gene: NFASC: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Neurodevelopmental disorder with central and peripheral motor dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NEXN Sarah Graham reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: 33949776, 39183344, 35166435, 32058062; Phenotypes: Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NEUROD1 Soo-Mi Park reviewed gene: NEUROD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26669242, 20573748, 10545951, 29521454, 26773576, 19609565; Phenotypes: Maturity-onset diabetes of the young 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v6.24 NEPRO Natalie Canham reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: ; Publications: 31250547, 29620724, 26633546, 37294112; Phenotypes: Anauxetic dysplasia 3, OMIM:618853; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NDUFB7 Vicki Harrison reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: ; Publications: 33502047, 40025060; Phenotypes: Mitochondrial complex I deficiency, nuclear type 39; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NAGS Elizabeth Wall reviewed gene: NAGS: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: N-acetylglutamate synthase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NAGLU Sarah Graham reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: 40066675; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MYL2 Vicki Harrison reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 39831482; Phenotypes: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, Cardiomyopathy, hypertrophic, 10; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 MYH9 Natalie Chandler reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: ; Publications: 16969870, 31384440; Phenotypes: Deafness, autosomal dominant 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 MSL2 Natalie Chandler reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 38815585, 31332282; Phenotypes: Karayol-Borroto-Haghshenas neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 MPL Elizabeth Scotchman reviewed gene: MPL: Rating: AMBER; Mode of pathogenicity: ; Publications: 39763161; Phenotypes: Amegakaryocytic thrombocytopenia, congenital, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MIA3 Sarah Graham reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 32101163, 33778321, 40119123; Phenotypes: Odontochondrodysplasia-2 with hearing loss and diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MET Stephanie Allen reviewed gene: MET: Rating: RED; Mode of pathogenicity: ; Publications: 30777867, 38429387; Phenotypes: ?Arthrogryposis, distal, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 MED11 Soo-Mi Park reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: 39578696, 36001086; Phenotypes: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v6.24 MAPK1 Sarah Graham reviewed gene: MAPK1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 40257485, 32721402; Phenotypes: Noonan syndrome 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 MAP3K3 Alice Gardham reviewed gene: MAP3K3: Rating: RED; Mode of pathogenicity: ; Publications: 25728774; Phenotypes: Cerebral cavernous malformations 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 MAN2B2 Sarah Graham reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: 38622837, 35637269, 31775018; Phenotypes: Congenital disorder of glycosylation type 1EE with or without immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MAL Sahar Mansour reviewed gene: MAL: Rating: AMBER; Mode of pathogenicity: Other; Publications: 35217805; Phenotypes: ?Leukodystrophy, hypomyelinating, 28; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 LSS Natalie Chandler reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: 39359128; Phenotypes: Alopecia-intellectual disability syndrome 4, Cataract 44; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 LRRC8C Vicki Harrison reviewed gene: LRRC8C: Rating: AMBER; Mode of pathogenicity: ; Publications: 39623139; Phenotypes: TIMES syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 LIPN Stephanie Allen reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Ichthyosis, congenital, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 LGI3 Soo-Mi Park reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35948005; Phenotypes: Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v6.24 LDB1 Vicki Harrison reviewed gene: LDB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39680505; Phenotypes: Congenital hydrocephalus, MONDO:0016349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 LAGE3 Natalie Chandler reviewed gene: LAGE3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28805828, 31069511, 36682911; Phenotypes: Galloway-Mowat syndrome 2, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.24 KMT2E Natalie Bibb reviewed gene: KMT2E: Rating: AMBER; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: O'Donnell-Luria-Rodan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 C12orf66 Sahar Mansour reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: ; Publications: 39824192; Phenotypes: Intellectual developmental disorder, autosomal recessive 83; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 KDM6B Sunayna Best reviewed gene: KDM6B: Rating: AMBER; Mode of pathogenicity: ; Publications: 31124270, 37196654; Phenotypes: Stolerman neurodevelopmental syndrome, OMIM:618505; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 KDM1A Esther Kinning reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 26656649, 24838796, 27094131; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 KCNH2 Sahar Mansour reviewed gene: KCNH2: Rating: AMBER; Mode of pathogenicity: ; Publications: 36973673, 39698424, 38094730; Phenotypes: Short QT syndrome 1, OMIM:609620, Long QT syndrome 2, OMIM:613688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 KCNB1 Soo-Mi Park reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 36257979, 31513310, 39237446; Phenotypes: Developmental and epileptic encephalopathy 26; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v6.24 KBTBD2 Esther Kinning reviewed gene: KBTBD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 39313616; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 KAT7 Natalie Chandler reviewed gene: KAT7: Rating: RED; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: Abnormal male external genitalia morphology, Tetralogy of Fallot; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 JPH1 Sarah Graham reviewed gene: JPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39209426; Phenotypes: Congenital myopathy-25; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ITGAV Natalie Canham reviewed gene: ITGAV: Rating: GREEN; Mode of pathogenicity: ; Publications: 39526957; Phenotypes: Syndromic disease, MONDO:0002254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 IRF4 Natalie Chandler reviewed gene: IRF4: Rating: RED; Mode of pathogenicity: ; Publications: 29537367, 36917008, 29408330, 36662884; Phenotypes: Immunodeficiency 131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 IFT27 Sahar Mansour reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: ; Publications: 25443296, 2970430, 24488770, 30761183, 37239474, 26763875; Phenotypes: Bardet-Biedl syndrome 19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 HNRNPU Sarah Graham reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: ; Publications: 39976380, 39965881, 39237446, 35138025; Phenotypes: Developmental and epileptic encephalopathy 54; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 HIRA Sarah Graham reviewed gene: HIRA: Rating: AMBER; Mode of pathogenicity: ; Publications: 38511226, 33417013; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 HECTD1 Sarah Graham reviewed gene: HECTD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 37165897, 38451291, 39879987; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 HDAC3 Sarah Graham reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39047730; Phenotypes: HDAC3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 GUK1 Esther Kinning reviewed gene: GUK1: Rating: RED; Mode of pathogenicity: ; Publications: 39230499; Phenotypes: Mitochondrial DNA depletion syndrome 21; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GTPBP1 Natalie Chandler reviewed gene: GTPBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38118446; Phenotypes: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GNS Sarah Graham reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIID, OMIM:252940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GNPNAT1 Vicki Harrison reviewed gene: GNPNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39945447; Phenotypes: Rhizomelic dysplasia, Ain-Naz type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GNAI2 Sarah Graham reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 39298586; Phenotypes: Syndromic developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 GEMIN4 Sahar Mansour reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GDAP1 Alice Gardham reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: ; Publications: 39945447; Phenotypes: Charcot-Marie-Tooth disease, type 4A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GATA5 Natalie Chandler reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: 40076735; Phenotypes: Congenital heart defects, multiple types, 5; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 GALT Sarah Graham reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactosemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 G6PD Sarah Graham reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: ; Publications: 39041728; Phenotypes: Glucose-6-phosphate dehydrogenase deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v6.24 FLVCR1 Natalie Canham reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39306721; Phenotypes: Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 FLII Sarah Graham reviewed gene: FLII: Rating: AMBER; Mode of pathogenicity: ; Publications: 37561591, 32870709; Phenotypes: Cardiomyopathy, dilated, 2J; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 FGG Natalie Canham reviewed gene: FGG: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Hypofibrinogenemia, congenital, Afibrinogenemia, congenital; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 FBXW11 Elizabeth Scotchman reviewed gene: FBXW11: Rating: AMBER; Mode of pathogenicity: ; Publications: 40188065, 31402090; Phenotypes: Neurodevelopmental, jaw, eye, and digital syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 FBXO22 Natalie Bibb reviewed gene: FBXO22: Rating: AMBER; Mode of pathogenicity: ; Publications: 40215970; Phenotypes: Tayoun-Maawali syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 FAM177A1 Vicki Harrison reviewed gene: FAM177A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38767059, 25558065; Phenotypes: Neurodevelopmental disorder with white matter abnormalities and gait disturbance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 EXOSC8 Sarah Graham reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 34210538, 38017281, 24989451; Phenotypes: Pontocerebellar hypoplasia type 1C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 EXOC6B Natalie Bibb reviewed gene: EXOC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 30284759, 26669664, 36150098; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ERG Sunayna Best reviewed gene: ERG: Rating: AMBER; Mode of pathogenicity: ; Publications: 36928819; Phenotypes: Lymphatic malformation 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 EFL1 Esther Kinning reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31151987, 29970384, 34115847, 28331068; Phenotypes: Shwachman-Diamond syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 EEFSEC Natalie Chandler reviewed gene: EEFSEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 39753114; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DVL2 Natalie Bibb reviewed gene: DVL2: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 35047859, 30521570, 33599851; Phenotypes: Robinow syndrome, MONDO:0019978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 DTNA Natalie Bibb reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: ; Publications: 36799992; Phenotypes: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 DST Sarah Graham reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: 37431644; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DSE Natalie Chandler reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: ; Publications: 31655143, 32130795, 25703627, 23704329; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DSC2 Alice Gardham reviewed gene: DSC2: Rating: RED; Mode of pathogenicity: ; Publications: 40188065; Phenotypes: Arrhythmogenic right ventricular dysplasia, familial, 11; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 DOHH Esther Kinning reviewed gene: DOHH: Rating: AMBER; Mode of pathogenicity: ; Publications: 35858628; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DNAJC21 Elizabeth Wall reviewed gene: DNAJC21: Rating: AMBER; Mode of pathogenicity: ; Publications: 27346687, 28062395, 29700810; Phenotypes: Bone marrow failure syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DHX9 Elizabeth Scotchman reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: 37467750, 37369308; Phenotypes: Intellectual developmental disorder, autosomal dominant 75; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 DHRSX Elizabeth Scotchman reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: 38821050; Phenotypes: Congenital disorder of glycosylation, type 1DD, OMIM:301133; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DDX17 Elizabeth Scotchman reviewed gene: DDX17: Rating: RED; Mode of pathogenicity: ; Publications: 39405200; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 DAND5 Elizabeth Wall reviewed gene: DAND5: Rating: AMBER; Mode of pathogenicity: ; Publications: 34215651, 36316122; Phenotypes: Heterotaxy, visceral, 13, autosomal; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 CYP24A1 Natalie Chandler reviewed gene: CYP24A1: Rating: RED; Mode of pathogenicity: ; Publications: 22337913, 28324001, 27105398, 34307984; Phenotypes: hypercalcaemia, nephrocalcinosis, cystic kidney disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 COQ2 Anna de Burca reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 39763161; Phenotypes: Coenzyme Q10 deficiency, primary, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 COMP Elizabeth Wall reviewed gene: COMP: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 40188065, 39521787; Phenotypes: Epiphyseal dysplasia, multiple, 1, Pseudoachondroplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 COL25A1 Sarah Graham reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40158061; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 C1orf127 Elizabeth Scotchman reviewed gene: C1orf127: Rating: GREEN; Mode of pathogenicity: ; Publications: 39753129; Phenotypes: Heterotaxy, visceral, 14, autosomal; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 CHAF1A Elizabeth Wall reviewed gene: CHAF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 39333427; Phenotypes: Oculo-auriculo-vertebral spectrum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 CFI Esther Kinning reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Complement factor I deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 CELSR1 Sarah Graham reviewed gene: CELSR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38272662; Phenotypes: Lymphatic malformation-9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 CDK5 Sarah Graham reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: ; Publications: 25560765, 40186457; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 CCT8 Sarah Graham reviewed gene: CCT8: Rating: AMBER; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: CCT8-related neurodevelopmental disorder with brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 CCT6A Sarah Graham reviewed gene: CCT6A: Rating: RED; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: CCT6A-related neurodevelopmental disorder with or without brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 CCT3 Natalie Canham reviewed gene: CCT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 CTGF Elizabeth Scotchman reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: 39506047, 39414788, 12736220; Phenotypes: Kyphomelic dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 BRD2 Natalie Canham reviewed gene: BRD2: Rating: RED; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: Agenesis of corpus callosum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 BORCS8 Natalie Canham reviewed gene: BORCS8: Rating: RED; Mode of pathogenicity: ; Publications: 38128568; Phenotypes: Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 BICRA Natalie Chandler reviewed gene: BICRA: Rating: AMBER; Mode of pathogenicity: ; Publications: 33232675; Phenotypes: Coffin-Siris syndrome 12; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 BHLHE22 Sarah Graham reviewed gene: BHLHE22: Rating: GREEN; Mode of pathogenicity: ; Publications: 39502664; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 BAIAP2 Anna de Burca reviewed gene: BAIAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 38149472; Phenotypes: Lissencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 ASCC3 Anna de Burca reviewed gene: ASCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 21937992, 35047834; Phenotypes: Intellectual developmental disorder, autosomal recessive 81, OMIM:620700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ARPC5 Stephanie Allen reviewed gene: ARPC5: Rating: RED; Mode of pathogenicity: ; Publications: 37382373, 37349293; Phenotypes: Immunodeficiency 113 with autoimmunity and autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ARL6IP1 Alice Gardham reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39954331; Phenotypes: Spastic paraplegia 61, autosomal recessive, OMIM:615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ARL2BP Vicki Harrison reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: 36507858, 40384762, 38649918, 23849777, 27790702; Phenotypes: Situs Inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 AGT Esther Kinning reviewed gene: AGT: Rating: GREEN; Mode of pathogenicity: ; Publications: 39641285; Phenotypes: Renal tubular dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 AGRN Alice Gardham reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: ; Publications: 39807604; Phenotypes: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ACTN2 Natalie Chandler reviewed gene: ACTN2: Rating: RED; Mode of pathogenicity: ; Publications: 39521787; Phenotypes: Congenital myopathy 8, Cardiomyopathy, hypertrophic, 23, with or without LVNC, Cardiomyopathy, dilated, 1AA, with or without LVNC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 ACO2 Natalie Chandler reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Infantile cerebellar-retinal degeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.21 CDH11 Arina Puzriakova gene: CDH11 was added
gene: CDH11 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CDH11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CDH11 were set to 33811546; 29271567
Phenotypes for gene: CDH11 were set to Elsahy-Waters syndrome
Fetal anomalies v6.21 BORCS5 Arina Puzriakova gene: BORCS5 was added
gene: BORCS5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS5 were set to 40385417
Phenotypes for gene: BORCS5 were set to Arthrogryposis multiplex congenita, brain malformations
Fetal anomalies v6.21 ZEB1 Arina Puzriakova gene: ZEB1 was added
gene: ZEB1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ZEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZEB1 were set to 37857482
Phenotypes for gene: ZEB1 were set to Anomalies of the corpus callosum
Fetal anomalies v6.21 UNC50 Arina Puzriakova gene: UNC50 was added
gene: UNC50 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC50 were set to 29016857; 40219868; 33820833
Phenotypes for gene: UNC50 were set to Arthrogryposis multiplex congenita
Fetal anomalies v6.21 C14orf80 Arina Puzriakova gene: C14orf80 was added
gene: C14orf80 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C14orf80 were set to 39979680
Phenotypes for gene: C14orf80 were set to severe growth impairment and endocrine complications
Fetal anomalies v6.21 TCP1 Arina Puzriakova gene: TCP1 was added
gene: TCP1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCP1 were set to 39480921
Phenotypes for gene: TCP1 were set to Intellectual developmental disorder with polymicrogyria and seizures
Fetal anomalies v6.21 TCF20 Arina Puzriakova Mode of inheritance for gene TCF20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities for gene: TCF20
Publications for gene: TCF20 were updated from to 30819258; 40066675
Fetal anomalies v6.21 STXBP2 Arina Puzriakova gene: STXBP2 was added
gene: STXBP2 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP2 were set to 33593331; 38084697
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease
Fetal anomalies v6.21 SPTA1 Arina Puzriakova Source Expert Review Amber was added to SPTA1.
Mode of inheritance for gene SPTA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hereditary pyropoikilocytosis for gene: SPTA1
Publications for gene: SPTA1 were updated from 31333484; 33082562; 34132406 to 34132406; 30198572; 38031483; 33082562; 31333484
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 SPOUT1 Arina Puzriakova gene: SPOUT1 was added
gene: SPOUT1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SPOUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPOUT1 were set to 39962046
Phenotypes for gene: SPOUT1 were set to Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities
Fetal anomalies v6.21 SNAPC4 Arina Puzriakova gene: SNAPC4 was added
gene: SNAPC4 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SNAPC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAPC4 were set to 40186013
Phenotypes for gene: SNAPC4 were set to Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
Fetal anomalies v6.21 SLC35A3 Arina Puzriakova gene: SLC35A3 was added
gene: SLC35A3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A3 were set to 28328131; 28777481; 24031089; 33416188
Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures, OMIM:615553
Fetal anomalies v6.21 SLC30A5 Arina Puzriakova gene: SLC30A5 was added
gene: SLC30A5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A5 were set to 33547425; 12095919; 39790720
Phenotypes for gene: SLC30A5 were set to Cardiomyopathy, hydrops fetalis, or cystic hygroma
Fetal anomalies v6.21 SLC12A9 Arina Puzriakova gene: SLC12A9 was added
gene: SLC12A9 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC12A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A9 were set to 38334070
Phenotypes for gene: SLC12A9 were set to SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects
Fetal anomalies v6.21 SENP7 Arina Puzriakova gene: SENP7 was added
gene: SENP7 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SENP7 were set to 37460201; 39763084
Phenotypes for gene: SENP7 were set to Fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia
Fetal anomalies v6.21 SEL1L Arina Puzriakova gene: SEL1L was added
gene: SEL1L was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SEL1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEL1L were set to 37943617; 37943610
Phenotypes for gene: SEL1L were set to Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia
Fetal anomalies v6.21 RNU5B-1 Arina Puzriakova gene: RNU5B-1 was added
gene: RNU5B-1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNU5B-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU5B-1 were set to 40379786
Phenotypes for gene: RNU5B-1 were set to Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302
Fetal anomalies v6.21 RNF31 Arina Puzriakova gene: RNF31 was added
gene: RNF31 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: RNF31 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF31 were set to 26008899; 30936877
Phenotypes for gene: RNF31 were set to Immunodeficiency 115 with autoinflammation
Fetal anomalies v6.21 RAB11B Arina Puzriakova Added phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter for gene: RAB11B
Publications for gene: RAB11B were updated from 29106825 to 39502218; 29106825
Fetal anomalies v6.21 PUS3 Arina Puzriakova gene: PUS3 was added
gene: PUS3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS3 were set to 31444731; 39891418; 30308082; 30697592; 27055666
Phenotypes for gene: PUS3 were set to Neurodevelopmental disorder with microcephaly and gray sclerae
Fetal anomalies v6.21 PURA Arina Puzriakova Mode of inheritance for gene PURA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties for gene: PURA
Publications for gene: PURA were updated from to 39521787
Fetal anomalies v6.21 PROC Arina Puzriakova gene: PROC was added
gene: PROC was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PROC were set to 39763161
Phenotypes for gene: PROC were set to Thrombophilia 3 due to protein C deficiency, autosomal recessive
Fetal anomalies v6.21 PPFIBP1 Arina Puzriakova gene: PPFIBP1 was added
gene: PPFIBP1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPFIBP1 were set to 35830857; 37229200
Phenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
Fetal anomalies v6.21 PLVAP Arina Puzriakova gene: PLVAP was added
gene: PLVAP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PLVAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLVAP were set to 31215290; 29875123; 29661969; 26207260
Phenotypes for gene: PLVAP were set to Diarrhoea 10, protein-losing enteropathy type, OMIM:618183
Fetal anomalies v6.21 PLAA Arina Puzriakova Added phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527 for gene: PLAA
Publications for gene: PLAA were updated from 28007986; 28413018; 31322726 to 31322726; 38650658; 28413018; 28007986
Fetal anomalies v6.21 PIGW Arina Puzriakova gene: PIGW was added
gene: PIGW was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGW were set to 40180615
Phenotypes for gene: PIGW were set to Glycosylphosphatidylinositol biosynthesis defect 11
Fetal anomalies v6.21 PIGP Arina Puzriakova gene: PIGP was added
gene: PIGP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 28334793; 32042915; 31139695
Phenotypes for gene: PIGP were set to Developmental and epileptic encephalopathy 55
Fetal anomalies v6.21 PIGG Arina Puzriakova Added phenotypes Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy for gene: PIGG
Fetal anomalies v6.21 PIGC Arina Puzriakova gene: PIGC was added
gene: PIGC was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PIGC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGC were set to 32707268; 27694521
Phenotypes for gene: PIGC were set to Glycosylphosphatidylinositol biosynthesis defect 16
Fetal anomalies v6.21 PI4KA Arina Puzriakova Added phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis for gene: PI4KA
Publications for gene: PI4KA were updated from 34415310 to 34415310; 39891418
Fetal anomalies v6.21 PHF5A Arina Puzriakova gene: PHF5A was added
gene: PHF5A was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF5A were set to 33811463; 37422718
Phenotypes for gene: PHF5A were set to PHF5A-related neurodevelopmental disorder with congenital malformations
Fetal anomalies v6.21 PAICS Arina Puzriakova Added phenotypes Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426 for gene: PAICS
Publications for gene: PAICS were updated from 31600779 to 31178128; 31600779; 3965093; 38179855; 30758658
Fetal anomalies v6.21 OSBPL9 Arina Puzriakova gene: OSBPL9 was added
gene: OSBPL9 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: OSBPL9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSBPL9 were set to 40182349
Phenotypes for gene: OSBPL9 were set to Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex
Fetal anomalies v6.21 NUP214 Arina Puzriakova Added phenotypes Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426 for gene: NUP214
Publications for gene: NUP214 were updated from 31178128; 38179855; 30758658; 3965093 to 31178128; 3965093; 38179855; 39650934; 30758658
Fetal anomalies v6.21 NFASC Arina Puzriakova gene: NFASC was added
gene: NFASC was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFASC were set to 39891418
Phenotypes for gene: NFASC were set to Neurodevelopmental disorder with central and peripheral motor dysfunction
Fetal anomalies v6.21 NEXN Arina Puzriakova Mode of inheritance for gene NEXN was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cardiomyopathy for gene: NEXN
Publications for gene: NEXN were updated from 33947203; 32058062; 35166435; 33027564; 33949776 to 39183344; 33947203; 33949776; 33027564; 35166435; 32058062
Fetal anomalies v6.21 NEUROD1 Arina Puzriakova gene: NEUROD1 was added
gene: NEUROD1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NEUROD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROD1 were set to 26773576; 10545951; 29521454; 26669242; 19609565; 20573748
Phenotypes for gene: NEUROD1 were set to Maturity-onset diabetes of the young 6
Fetal anomalies v6.21 NAGS Arina Puzriakova Added phenotypes N-acetylglutamate synthase deficiency for gene: NAGS
Publications for gene: NAGS were updated from to 39891418
Fetal anomalies v6.21 MYL2 Arina Puzriakova gene: MYL2 was added
gene: MYL2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MYL2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYL2 were set to 39831482
Phenotypes for gene: MYL2 were set to Cardiomyopathy, hypertrophic, 10; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
Fetal anomalies v6.21 MYH9 Arina Puzriakova Added phenotypes Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss for gene: MYH9
Publications for gene: MYH9 were updated from to 16969870; 31384440
Fetal anomalies v6.21 MPL Arina Puzriakova gene: MPL was added
gene: MPL was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPL were set to 39763161
Phenotypes for gene: MPL were set to Amegakaryocytic thrombocytopenia, congenital, 1
Fetal anomalies v6.21 MIA3 Arina Puzriakova gene: MIA3 was added
gene: MIA3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIA3 were set to 32101163; 40119123; 33778321
Phenotypes for gene: MIA3 were set to Odontochondrodysplasia-2 with hearing loss and diabetes
Fetal anomalies v6.21 MET Arina Puzriakova gene: MET was added
gene: MET was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MET were set to 30777867; 38429387
Phenotypes for gene: MET were set to ?Arthrogryposis, distal, type 1
Fetal anomalies v6.21 MED11 Arina Puzriakova gene: MED11 was added
gene: MED11 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086; 39578696
Phenotypes for gene: MED11 were set to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
Fetal anomalies v6.21 MAPK1 Arina Puzriakova Mode of pathogenicity for gene MAPK1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Noonan syndrome 13 for gene: MAPK1
Publications for gene: MAPK1 were updated from 32721402 to 32721402; 40257485
Fetal anomalies v6.21 MAN2B2 Arina Puzriakova gene: MAN2B2 was added
gene: MAN2B2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B2 were set to 35637269; 31775018; 38622837
Phenotypes for gene: MAN2B2 were set to Congenital disorder of glycosylation type 1EE with or without immunodeficiency
Fetal anomalies v6.21 MAL Arina Puzriakova gene: MAL was added
gene: MAL was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MAL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAL were set to 35217805
Phenotypes for gene: MAL were set to ?Leukodystrophy, hypomyelinating, 28
Mode of pathogenicity for gene: MAL was set to Other
Fetal anomalies v6.21 LIPN Arina Puzriakova Added phenotypes Ichthyosis, congenital, autosomal recessive 8 for gene: LIPN
Publications for gene: LIPN were updated from 21439540 to 21439540; 39891418
Fetal anomalies v6.21 LGI3 Arina Puzriakova gene: LGI3 was added
gene: LGI3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: LGI3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LGI3 were set to 35948005
Phenotypes for gene: LGI3 were set to Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007
Fetal anomalies v6.21 KCNB1 Arina Puzriakova Source Expert Review Amber was added to KCNB1.
Mode of inheritance for gene KCNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental and epileptic encephalopathy 26 for gene: KCNB1
Publications for gene: KCNB1 were updated from to 36257979; 39237446; 31513310
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 JPH1 Arina Puzriakova gene: JPH1 was added
gene: JPH1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: JPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JPH1 were set to 39209426
Phenotypes for gene: JPH1 were set to Congenital myopathy-25
Fetal anomalies v6.21 IRF4 Arina Puzriakova gene: IRF4 was added
gene: IRF4 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: IRF4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IRF4 were set to 36917008; 36662884; 29537367; 29408330
Phenotypes for gene: IRF4 were set to Immunodeficiency 131
Fetal anomalies v6.21 HNRNPU Arina Puzriakova Source Expert Review Amber was added to HNRNPU.
Mode of inheritance for gene HNRNPU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental and epileptic encephalopathy 54 for gene: HNRNPU
Publications for gene: HNRNPU were updated from to 39237446; 39965881; 35138025; 39976380
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 HECTD1 Arina Puzriakova gene: HECTD1 was added
gene: HECTD1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: HECTD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HECTD1 were set to 39879987; 38451291; 37165897
Phenotypes for gene: HECTD1 were set to Neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.21 GTPBP1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888 for gene: GTPBP1
Fetal anomalies v6.21 GEMIN4 Arina Puzriakova gene: GEMIN4 was added
gene: GEMIN4 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN4 were set to 39891418
Phenotypes for gene: GEMIN4 were set to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Fetal anomalies v6.21 GDAP1 Arina Puzriakova gene: GDAP1 was added
gene: GDAP1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDAP1 were set to 39945447
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, type 4A
Fetal anomalies v6.21 GATA5 Arina Puzriakova Mode of inheritance for gene GATA5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Congenital heart defects, multiple types, 5 for gene: GATA5
Publications for gene: GATA5 were updated from 33082562 to 40076735; 33082562
Fetal anomalies v6.21 FLVCR1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060 for gene: FLVCR1
Fetal anomalies v6.21 FLII Arina Puzriakova gene: FLII was added
gene: FLII was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLII were set to 37561591; 32870709
Phenotypes for gene: FLII were set to Cardiomyopathy, dilated, 2J
Fetal anomalies v6.21 FAM177A1 Arina Puzriakova gene: FAM177A1 was added
gene: FAM177A1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: FAM177A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM177A1 were set to 38767059; 25558065
Phenotypes for gene: FAM177A1 were set to Neurodevelopmental disorder with white matter abnormalities and gait disturbance
Fetal anomalies v6.21 EXOC6B Arina Puzriakova gene: EXOC6B was added
gene: EXOC6B was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC6B were set to 30284759; 36150098; 26669664
Phenotypes for gene: EXOC6B were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 3
Fetal anomalies v6.21 EEFSEC Arina Puzriakova gene: EEFSEC was added
gene: EEFSEC was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEFSEC were set to 39753114
Phenotypes for gene: EEFSEC were set to Neurodevelopmental disorder with progressive spasticity and brain abnormalities
Fetal anomalies v6.21 DVL2 Arina Puzriakova Mode of pathogenicity for gene DVL2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Robinow syndrome, MONDO:0019978 for gene: DVL2
Publications for gene: DVL2 were updated from 35047859; 33599851; 30521570 to 33599851; 30521570; 35047859
Fetal anomalies v6.21 DTNA Arina Puzriakova gene: DTNA was added
gene: DTNA was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DTNA were set to 36799992
Phenotypes for gene: DTNA were set to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2
Fetal anomalies v6.21 DST Arina Puzriakova gene: DST was added
gene: DST was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DST were set to 37431644
Phenotypes for gene: DST were set to Arthrogryposis multiplex congenita
Fetal anomalies v6.21 DSC2 Arina Puzriakova gene: DSC2 was added
gene: DSC2 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSC2 were set to 40188065
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia, familial, 11
Fetal anomalies v6.21 DOHH Arina Puzriakova Added phenotypes Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066 for gene: DOHH
Fetal anomalies v6.21 COMP Arina Puzriakova Source Expert Review Amber was added to COMP.
Mode of inheritance for gene COMP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene COMP was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Pseudoachondroplasia; Epiphyseal dysplasia, multiple, 1 for gene: COMP
Publications for gene: COMP were updated from to 39521787; 40188065
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 COL25A1 Arina Puzriakova Source Expert Review Amber was added to COL25A1.
Added phenotypes Arthrogryposis multiplex congenita for gene: COL25A1
Publications for gene: COL25A1 were updated from 26437029; 35077597 to 26437029; 40158061; 35077597
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 CDK5 Arina Puzriakova gene: CDK5 was added
gene: CDK5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5 were set to 25560765; 40186457
Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia
Fetal anomalies v6.21 CCT8 Arina Puzriakova gene: CCT8 was added
gene: CCT8 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CCT8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCT8 were set to 39480921
Phenotypes for gene: CCT8 were set to CCT8-related neurodevelopmental disorder with brain abnormalities
Fetal anomalies v6.21 CCT6A Arina Puzriakova gene: CCT6A was added
gene: CCT6A was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: CCT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCT6A were set to 39480921
Phenotypes for gene: CCT6A were set to CCT6A-related neurodevelopmental disorder with or without brain abnormalities
Fetal anomalies v6.21 CCT3 Arina Puzriakova gene: CCT3 was added
gene: CCT3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT3 were set to 39480921
Phenotypes for gene: CCT3 were set to Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination
Fetal anomalies v6.21 BORCS8 Arina Puzriakova gene: BORCS8 was added
gene: BORCS8 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS8 were set to 38128568
Phenotypes for gene: BORCS8 were set to Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
Fetal anomalies v6.21 BHLHE22 Arina Puzriakova gene: BHLHE22 was added
gene: BHLHE22 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BHLHE22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BHLHE22 were set to 39502664
Phenotypes for gene: BHLHE22 were set to Complex neurodevelopmental disorder
Fetal anomalies v6.21 ARPC5 Arina Puzriakova gene: ARPC5 was added
gene: ARPC5 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARPC5 were set to 37349293; 37382373
Phenotypes for gene: ARPC5 were set to Immunodeficiency 113 with autoimmunity and autoinflammation
Fetal anomalies v6.21 AGRN Arina Puzriakova Source Expert Review Amber was added to AGRN.
Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects for gene: AGRN
Publications for gene: AGRN were updated from 31730230; 39807604 to 31730230; 39807604
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 ACTN2 Arina Puzriakova gene: ACTN2 was added
gene: ACTN2 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTN2 were set to 39521787
Phenotypes for gene: ACTN2 were set to Cardiomyopathy, hypertrophic, 23, with or without LVNC; Cardiomyopathy, dilated, 1AA, with or without LVNC; Congenital myopathy 8
Fetal anomalies v6.17 EVC2 Ida Ertmanska changed review comment from: Comment on list classification: There are at least five unrelated families reported in literature with Weyers acrofacial dysostosis (rare skeletal dysplasia) and heterozygous variants in exon 22 of EVC2. While biallelic variants in EVC2 are associated with Ellis-van Creveld syndrome, Weyers acrofacial dysostosis is dominantly inherited. MOI should be changed from BIALLELIC to BOTH monoallelic and biallelic in the next GMS panel update.; to: Comment on mode of inheritance: There are at least five unrelated families reported in literature with Weyers acrofacial dysostosis (rare skeletal dysplasia) and heterozygous variants in exon 22 of EVC2. While biallelic variants in EVC2 are associated with Ellis-van Creveld syndrome, Weyers acrofacial dysostosis is dominantly inherited. MOI should be changed from BIALLELIC to BOTH monoallelic and biallelic in the next GMS panel update.
Fetal anomalies v6.17 EVC2 Ida Ertmanska commented on gene: EVC2: Comment on list classification: There are at least five unrelated families reported in literature with Weyers acrofacial dysostosis (rare skeletal dysplasia) and heterozygous variants in exon 22 of EVC2. While biallelic variants in EVC2 are associated with Ellis-van Creveld syndrome, Weyers acrofacial dysostosis is dominantly inherited. MOI should be changed from BIALLELIC to BOTH monoallelic and biallelic in the next GMS panel update.
Fetal anomalies v6.17 EVC2 Ida Ertmanska reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38531627, 23220543, 19810119, 16404586; Phenotypes: Weyers acrofacial dysostosis, OMIM:193530, acrofacial dysostosis, Weyers type, MONDO:0008673; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.17 ACO2 Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' to 'BIALLELIC, autosomal or pseudoautosomal' as isolated optic atrophy caused by heterozygous variants in this gene is not relevant to the fetal panel. Extraocular features are rare in dominant cases (11%) and would also not be relevant to this panel (e.g. hearing loss, ataxia, nystagmus, metabolic dysfunction) (PMID: 34056600)
Fetal anomalies v6.17 ACO2 Arina Puzriakova Mode of inheritance for gene: ACO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.15 LINC01082 Hannah Robinson gene: LINC01082 was added
gene: LINC01082 was added to Fetal anomalies. Sources: NHS GMS
Mode of inheritance for gene: LINC01082 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LINC01082 were set to PMID: 27071622; PMID: 27822317
Phenotypes for gene: LINC01082 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins
Penetrance for gene: LINC01082 were set to Complete
Review for gene: LINC01082 was set to GREEN
gene: LINC01082 was marked as current diagnostic
Added comment: LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer of FOXF1. Pathogenic variants in FOXF1 or deletions of its upstream enhancer region cause alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) (MIM265380). The majority of previously reported deletions of the upstream enhancer region have occurred de novo on the maternal allele.
Sources: NHS GMS
Fetal anomalies v6.15 LINC01081 Hannah Robinson gene: LINC01081 was added
gene: LINC01081 was added to Fetal anomalies. Sources: NHS GMS
Mode of inheritance for gene: LINC01081 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LINC01081 were set to PMID: 27071622; PMID: 27822317
Phenotypes for gene: LINC01081 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins
Penetrance for gene: LINC01081 were set to Complete
Review for gene: LINC01081 was set to GREEN
gene: LINC01081 was marked as current diagnostic
Added comment: LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer of FOXF1. Pathogenic variants in FOXF1 or deletions of its upstream enhancer region cause alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) (MIM265380). The majority of previously reported deletions of the upstream enhancer region have occurred de novo on the maternal allele.
Sources: NHS GMS
Fetal anomalies v6.15 PDE12 Achchuthan Shanmugasundram Added comment: Comment on list classification: Of the three unrelated families reported with biallelic PDE12 variants, foetal anomalies were reported in two families. There is also functional and in silico evidence available. Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v6.14 PDE12 Achchuthan Shanmugasundram changed review comment from: PMID:39567835 (2025) reported five cases (three live-borns and two foetuses) from three unrelated families presenting with severe early-onset mitochondrial disease. They showed wide-ranging clinical presentations in utero and within the neonatal period, with muscle and brain involvement leading to marked cytochrome c oxidase (COX) deficiency in muscle and severe lactic acidosis.

In family 1, one of the two patients died at 3 months of age, while patient from family 2 died at day 2. Increased nuchal translucency, severe intra-uterine growth retardation, hydrops and cystic hygroma was noted in one of the two foetuses by prenatal ultrasound and the pregnancy ended spontaneously at 22 gestational weeks. Nuchal translucency and absence of foetal movements were observed in the other foetus, which was terminated at 19 weeks.

All three families harboured a different homozygous variant in PDE12 gene (p.Tyr155Cys, p.Gly372Glu & p.Arg41Pro) as identified by whole-exome sequencing. Based on the gnomAD database, all three missense variants were reported to be rare in general population.

Functional evidence from patient fibroblast studies showed reduced PDE12 protein and accumulation of abnormally polyadenylated mitochondrial tRNAs/rRNAs, causing disrupted mitochondrial RNA processing. In addition, in silico modeling of the variants also suggested loss of function.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature; to: PMID:39567835 (2025) reported five cases (three live-borns and two foetuses) from three unrelated families presenting with severe early-onset mitochondrial disease. They showed wide-ranging clinical presentations in utero and within the neonatal period, with muscle and brain involvement leading to marked cytochrome c oxidase (COX) deficiency in muscle and severe lactic acidosis.

Of these, the patient from family 2 (died on day 2 after birth), and the two foetuses from family 3 had foetal anomalies detected via prenatal ultrasound. The patient from family 2 had brain anomalies. Increased nuchal translucency, severe intra-uterine growth retardation, hydrops and cystic hygroma was noted in one of the two foetuses from family 3 and the pregnancy ended spontaneously at 22 gestational weeks. Nuchal translucency and absence of foetal movements were observed in the other foetus, which was terminated at 19 weeks.

All three families harboured a different homozygous variant in PDE12 gene (p.Tyr155Cys, p.Gly372Glu & p.Arg41Pro) as identified by whole-exome sequencing. Based on the gnomAD database, all three missense variants were reported to be rare in general population.

Functional evidence from patient fibroblast studies showed reduced PDE12 protein and accumulation of abnormally polyadenylated mitochondrial tRNAs/rRNAs, causing disrupted mitochondrial RNA processing. In addition, in silico modeling of the variants also suggested loss of function.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Fetal anomalies v6.14 PDE12 Achchuthan Shanmugasundram gene: PDE12 was added
gene: PDE12 was added to Fetal anomalies. Sources: Literature
Q3_25_promote_green tags were added to gene: PDE12.
Mode of inheritance for gene: PDE12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE12 were set to 39567835
Phenotypes for gene: PDE12 were set to mitochondrial disease, MONDO:0044970
Review for gene: PDE12 was set to GREEN
Added comment: PMID:39567835 (2025) reported five cases (three live-borns and two foetuses) from three unrelated families presenting with severe early-onset mitochondrial disease. They showed wide-ranging clinical presentations in utero and within the neonatal period, with muscle and brain involvement leading to marked cytochrome c oxidase (COX) deficiency in muscle and severe lactic acidosis.

In family 1, one of the two patients died at 3 months of age, while patient from family 2 died at day 2. Increased nuchal translucency, severe intra-uterine growth retardation, hydrops and cystic hygroma was noted in one of the two foetuses by prenatal ultrasound and the pregnancy ended spontaneously at 22 gestational weeks. Nuchal translucency and absence of foetal movements were observed in the other foetus, which was terminated at 19 weeks.

All three families harboured a different homozygous variant in PDE12 gene (p.Tyr155Cys, p.Gly372Glu & p.Arg41Pro) as identified by whole-exome sequencing. Based on the gnomAD database, all three missense variants were reported to be rare in general population.

Functional evidence from patient fibroblast studies showed reduced PDE12 protein and accumulation of abnormally polyadenylated mitochondrial tRNAs/rRNAs, causing disrupted mitochondrial RNA processing. In addition, in silico modeling of the variants also suggested loss of function.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Fetal anomalies v6.12 MYH3 Arina Puzriakova Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2B; DISTAL ARTHROGRYPOSIS TYPE 2A to Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700 (AD); Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436 (AD); Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110 (AD); Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469 (AR)
Fetal anomalies v6.10 MYH3 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be changed from 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' at the next GMS panel update.

Monoallelic variants are associated with distal arthrogryposis conditions including Freeman-Sheldon syndrome and Sheldon-Hall syndrome.

Monoallelic and biallelic variants also underlie Contractures, Pterygia, and Spondylocarpotarsal Fusion syndromes (CPSFS) which are characterised by extensive bony abnormalities in addition to congenital contractures. These features could be detected prenatally and therefore are relevant to this panel.

At least 3 unrelated recessive CPSFS cases have been reported with multiple contractures (PMID: 29805041). Additionally, two sibs from one family have been reported with distal arthrogryposis without additional features of CPSFS, who harboured two homozygous ultra-rare MYH3 variants (PMID: 38856159). Their presentation was assessed in a prenatal diagnostic setting. Overall this evidence supports an MOI of 'both mono- and biallelic' on this panel.
Fetal anomalies v6.9 GPKOW Eleanor Williams reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: None; Publications: 28612833, 40221893; Phenotypes: syndromic disease, MONDO:0002254; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v6.9 FLVCR1 Eleanor Williams Phenotypes for gene: FLVCR1 were changed from ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA to Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060; neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126
Fetal anomalies v6.7 FLVCR1 Eleanor Williams Added comment: Comment on list classification: Promoting this gene to amber with a recommendation for green rating following GMS review.
Fetal anomalies v6.6 FLVCR1 Eleanor Williams reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39306721; Phenotypes: Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060, neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.6 COL3A1 Arina Puzriakova Phenotypes for gene: COL3A1 were changed from HP:0002126; HP:0001883; HP:0006496 to Ehlers-Danlos syndrome, vascular type, OMIM:130050; Polymicrogyria with or without vascular-type EDS, OMIM:618343
Fetal anomalies v6.5 SYNGAP1 Arina Puzriakova Phenotypes for gene: SYNGAP1 were changed from EPILEPTIC ENCEPHALOPATHY; MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5 to Intellectual developmental disorder, autosomal dominant 5, OMIM:612621
Fetal anomalies v6.4 C1orf127 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Fetal anomalies v6.3 C1orf127 Arina Puzriakova reviewed gene: C1orf127: Rating: GREEN; Mode of pathogenicity: None; Publications: 39753129; Phenotypes: Heterotaxy, visceral, 14, autosomal, OMIM:621080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.96 C1orf127 Julia Baptista gene: C1orf127 was added
gene: C1orf127 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: C1orf127 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1orf127 were set to 39753129
Phenotypes for gene: C1orf127 were set to Heterotaxy
Review for gene: C1orf127 was set to GREEN
Added comment: OMIM entry now available for this gene and condition.
The HGNC approved gene name is CIROZ

Sixteen individuals from 10 independently ascertained families with Left-right anomalies with or without Congenital Heart Defects, consistent with Heterotaxy. Family 1 is of European ancestry, and families 9 and 10 are from Central America, while all remaining families were of Middle Eastern background and known to be consanguineous.

Of these 16 affected individuals, three were affected fetuses subjected to termination of pregnancy, and two died in the first year of life due to complex cardiac phenotypes.
Sources: Literature
Fetal anomalies v5.96 GPKOW Sarah Leigh reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v5.96 GPKOW Sarah Leigh Phenotypes for gene: GPKOW were changed from male-lethal microcephaly with intrauterine growth restriction to microcephaly with intrauterine growth restriction
Fetal anomalies v5.95 GPKOW Sarah Leigh Mode of inheritance for gene: GPKOW was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.93 SIRT6 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are four foetuses from a single family and several pieces of functional evidence available in support of the association. This gene is tagged for expert review from the Genomic Laboratory Hubs to decide whether the available evidence is sufficient for promotion to green rating on the next update.; to: Comment on list classification: There are four foetuses from a single family and several pieces of functional evidence available in support of the association. This gene is tagged for expert review from the NHS Genomic Medicine Service to decide whether the available evidence is sufficient for promotion to green rating on the next update.
Fetal anomalies v5.93 SIRT6 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four foetuses from a single family and several pieces of functional evidence available in support of the association. This gene is tagged for expert review from the Genomic Laboratory Hubs to decide whether the available evidence is sufficient for promotion to green rating on the next update.
Fetal anomalies v5.90 SIRT6 Achchuthan Shanmugasundram reviewed gene: SIRT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29555651, 30135584; Phenotypes: Fetal anomaly, HP:0034057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.90 LMNB2 Sarah Leigh changed review comment from: PMID: 40011009 reports two related babies who were homozygous for a loss-of-function LMNB2 variant. Both babies shared a similar phenotype of severe brain development abnormalities and died during the perinatal period. This shared phenotype was reflected in the several Lmnb2-deficient mouse models.
Material from the patient’s fibroblasts (obtained at birth) were used in Western blot and immunofluorescence cell labelling, and confirmed the complete absence of lamin B2 and revealed an increase in lamin B1, together with alterations in alpha-tubulin and vimentin organisation. (PMID: 40011009).; to: PMID: 40011009 reports two related babies who were homozygous for a loss-of-function LMNB2 variant. Both babies shared a similar phenotype of severe brain development abnormalities and died during the perinatal period. This shared phenotype was reflected in several Lmnb2-deficient mouse models.
Material from the patient’s fibroblasts (obtained at birth) were used in Western blot and immunofluorescence cell labelling, and confirmed the complete absence of lamin B2 and revealed an increase in lamin B1, together with alterations in alpha-tubulin and vimentin organisation. (PMID: 40011009).
Fetal anomalies v5.90 LMNB2 Sarah Leigh reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.88 SCN4A Sarah Leigh reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.88 SCN4A Sarah Leigh Phenotypes for gene: SCN4A were changed from PARAMYOTONIA CONGENITA OF VON EULENBURG; HYPERKALEMIC PERIODIC PARALYSIS TYPE 1; HYPOKALEMIC PERIODIC PARALYSIS to Classic congenital myopathy-22A, OMIM:620351; congenital myopathy 22A, classic,MONDO:0957247:Severe fetal congenital myopathy-22B, OMIM:620369; congenital myopathy 22B, severe fetal, MONDO:0957265
Fetal anomalies v5.87 LMNB2 Sarah Graham reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40011009; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v5.87 AL117258.1 Achchuthan Shanmugasundram changed review comment from: The 'new-gene-name' tag has been added as the HGNC approved symbol for this gene is CIROP.; to: The 'new-gene-name' tag has been added as the HGNC approved symbol for this gene is CIROP. This gene was known by the previous symbol LMLN2.
Fetal anomalies v5.87 VIPAS39 Arina Puzriakova Phenotypes for gene: VIPAS39 were changed from ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404; ARC syndrome
Fetal anomalies v5.86 DET1 Sarah Leigh Added comment: Comment on publications: PMID: 39937864 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Fetal anomalies v5.85 DET1 Sarah Leigh gene: DET1 was added
gene: DET1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DET1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DET1 were set to 39937864
Phenotypes for gene: DET1 were set to neurological defects and lethality
Review for gene: DET1 was set to RED
Added comment: PMID: 39937864 reports a family where the three affected siblings were homozygous for a variant in DET1 (c.76C>T, p.R26W) and also for a variant in COMMD4 (c.122T>G; p.L41R). These genes are both on chromosome 15, separated by 13 Mb and are likely to co-segregate. The parents of these cases were healthy, heterozygous carriers of the DET1 p.R26W variant. The cases described developed lethal developmental abnormalities and the longest lived sib died at 8 months old. Extensive functional studies were reported in PMID: 39937864 and using Det1-
deficient mice and human-induced pluripotent stem cells (iPSCs) expressing DET1R26W,
the authors were able to show that DET1 is essential for normal neuronal development.
Sources: Literature
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Although only two unrelated cases have been reported to date (PMID: 33502047, 40025060) there is strong functional data and an animal model that support the association. The existence of a therapeutic strategy further supports timely inclusion of this gene on a diagnostic panel.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update but this will be flagged for expert review prior to inclusion.

Although only two unrelated cases have been reported to date (PMID: 33502047, 40025060) there is strong functional data and an animal model that support the association. The existence of a therapeutic strategy further supports timely inclusion of this gene on a diagnostic panel.
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova edited their review of gene: NDUFB7: Changed publications to: 40025060; Changed phenotypes to: Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova edited their review of gene: NDUFB7: Changed rating: GREEN
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Although only two unrelated cases have been reported to date (PMID: 33502047, 40025060) there is strong functional data and an animal model that support the association. The existence of a therapeutic strategy further supports timely inclusion of this gene on a diagnostic panel.
Fetal anomalies v5.80 HYAL2 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #621063).
Fetal anomalies v5.80 HYAL2 Achchuthan Shanmugasundram Phenotypes for gene: HYAL2 were changed from congenital cardiac malformations; Cleft lip and palate; cor triatriatum to Muggenthaler-Chowdhury-Chioza syndrome, OMIM:621063
Fetal anomalies v5.79 CNBP_CCTG Achchuthan Shanmugasundram commented on STR: CNBP_CCTG: The repeated sequence of this STR has been updated from 'CAGG' to 'CCTG' to match the sequence on the coding strand of the gene. This update was made following NHS Genomic Medicine Service approval.
Fetal anomalies v5.78 CNBP_CCTG Achchuthan Shanmugasundram edited their review of STR: CNBP_CCTG: Changed rating: AMBER
Fetal anomalies v5.78 THSD1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: THSD1.
Tag Q1_25_ promote_green was removed from gene: THSD1.
Fetal anomalies v5.78 ZRSR2 Achchuthan Shanmugasundram edited their review of gene: ZRSR2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.78 ZFX Achchuthan Shanmugasundram edited their review of gene: ZFX: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.78 WDR44 Achchuthan Shanmugasundram edited their review of gene: WDR44: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.78 WBP4 Achchuthan Shanmugasundram edited their review of gene: WBP4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 WASHC5 Achchuthan Shanmugasundram edited their review of gene: WASHC5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 USP14 Achchuthan Shanmugasundram commented on gene: USP14: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v5.78 UFSP2 Achchuthan Shanmugasundram edited their review of gene: UFSP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 U2AF2 Achchuthan Shanmugasundram edited their review of gene: U2AF2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 TSHZ3 Achchuthan Shanmugasundram edited their review of gene: TSHZ3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 TRIT1 Achchuthan Shanmugasundram edited their review of gene: TRIT1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 TONSL Achchuthan Shanmugasundram edited their review of gene: TONSL: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 TOGARAM1 Achchuthan Shanmugasundram edited their review of gene: TOGARAM1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 THSD1 Achchuthan Shanmugasundram edited their review of gene: THSD1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 TBR1 Achchuthan Shanmugasundram edited their review of gene: TBR1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 TAF8 Achchuthan Shanmugasundram edited their review of gene: TAF8: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 SNF8 Achchuthan Shanmugasundram edited their review of gene: SNF8: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 SNAP25 Achchuthan Shanmugasundram edited their review of gene: SNAP25: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 SMPD1 Achchuthan Shanmugasundram edited their review of gene: SMPD1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER
Fetal anomalies v5.78 SLC4A10 Achchuthan Shanmugasundram edited their review of gene: SLC4A10: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 SLC34A1 Achchuthan Shanmugasundram edited their review of gene: SLC34A1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 SLC25A4 Achchuthan Shanmugasundram edited their review of gene: SLC25A4: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 SETD1A Achchuthan Shanmugasundram edited their review of gene: SETD1A: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.78 SCYL2 Achchuthan Shanmugasundram edited their review of gene: SCYL2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 SASS6 Achchuthan Shanmugasundram edited their review of gene: SASS6: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 RSPRY1 Achchuthan Shanmugasundram edited their review of gene: RSPRY1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 RSPO2 Achchuthan Shanmugasundram edited their review of gene: RSPO2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 RRAS Achchuthan Shanmugasundram edited their review of gene: RRAS: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.78 RRAGC Achchuthan Shanmugasundram edited their review of gene: RRAGC: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 RPL13 Achchuthan Shanmugasundram edited their review of gene: RPL13: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.78 ROBO1 Achchuthan Shanmugasundram edited their review of gene: ROBO1: Added comment: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 RNU4-2 Achchuthan Shanmugasundram edited their review of gene: RNU4-2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 RFWD3 Achchuthan Shanmugasundram edited their review of gene: RFWD3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 RAP1B Achchuthan Shanmugasundram edited their review of gene: RAP1B: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 RAB34 Achchuthan Shanmugasundram edited their review of gene: RAB34: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PUM1 Achchuthan Shanmugasundram edited their review of gene: PUM1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 PSMF1 Achchuthan Shanmugasundram edited their review of gene: PSMF1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PLS3 Achchuthan Shanmugasundram edited their review of gene: PLS3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.78 PLD1 Achchuthan Shanmugasundram edited their review of gene: PLD1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER
Fetal anomalies v5.78 PKDCC Achchuthan Shanmugasundram edited their review of gene: PKDCC: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PIP5K1C Achchuthan Shanmugasundram edited their review of gene: PIP5K1C: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PIGS Achchuthan Shanmugasundram edited their review of gene: PIGS: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PI4K2A Achchuthan Shanmugasundram edited their review of gene: PI4K2A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PAN2 Achchuthan Shanmugasundram edited their review of gene: PAN2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 NUDT2 Achchuthan Shanmugasundram edited their review of gene: NUDT2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 NSUN6 Achchuthan Shanmugasundram edited their review of gene: NSUN6: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 NLRP3 Achchuthan Shanmugasundram edited their review of gene: NLRP3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 MYBBP1A Achchuthan Shanmugasundram reviewed gene: MYBBP1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 MSTO1 Achchuthan Shanmugasundram edited their review of gene: MSTO1: Added comment: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 MDFIC Achchuthan Shanmugasundram commented on gene: MDFIC: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v5.78 MAX Achchuthan Shanmugasundram edited their review of gene: MAX: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 MAP4K4 Achchuthan Shanmugasundram edited their review of gene: MAP4K4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 LOX Achchuthan Shanmugasundram edited their review of gene: LOX: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 LNPK Achchuthan Shanmugasundram edited their review of gene: LNPK: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 LIPT2 Achchuthan Shanmugasundram edited their review of gene: LIPT2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 LAMB2 Achchuthan Shanmugasundram edited their review of gene: LAMB2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 LAMA5 Achchuthan Shanmugasundram edited their review of gene: LAMA5: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 KMT2B Achchuthan Shanmugasundram edited their review of gene: KMT2B: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 KIF5B Achchuthan Shanmugasundram edited their review of gene: KIF5B: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 KIF26A Achchuthan Shanmugasundram edited their review of gene: KIF26A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 KIF24 Achchuthan Shanmugasundram edited their review of gene: KIF24: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 KDM2B Achchuthan Shanmugasundram edited their review of gene: KDM2B: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 KDELR2 Achchuthan Shanmugasundram edited their review of gene: KDELR2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 KCNK9 Achchuthan Shanmugasundram commented on gene: KCNK9: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) following NHS Genomic Medicine Service approval.
Fetal anomalies v5.78 KCNK3 Achchuthan Shanmugasundram edited their review of gene: KCNK3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 KCNC3 Achchuthan Shanmugasundram edited their review of gene: KCNC3: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 INTS11 Achchuthan Shanmugasundram edited their review of gene: INTS11: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 HECTD4 Achchuthan Shanmugasundram edited their review of gene: HECTD4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 GON4L Achchuthan Shanmugasundram edited their review of gene: GON4L: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 GNB2 Achchuthan Shanmugasundram commented on gene: GNB2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v5.78 FUZ Achchuthan Shanmugasundram edited their review of gene: FUZ: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 FTO Achchuthan Shanmugasundram edited their review of gene: FTO: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 FOXP4 Achchuthan Shanmugasundram edited their review of gene: FOXP4: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.78 FOSL2 Achchuthan Shanmugasundram edited their review of gene: FOSL2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 FN1 Achchuthan Shanmugasundram edited their review of gene: FN1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.78 FILIP1 Achchuthan Shanmugasundram edited their review of gene: FILIP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 FAS Achchuthan Shanmugasundram edited their review of gene: FAS: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.78 ESAM Achchuthan Shanmugasundram commented on gene: ESAM: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v5.78 ERI1 Achchuthan Shanmugasundram edited their review of gene: ERI1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 ENG Achchuthan Shanmugasundram edited their review of gene: ENG: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 EMG1 Achchuthan Shanmugasundram edited their review of gene: EMG1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 EFCAB1 Achchuthan Shanmugasundram edited their review of gene: EFCAB1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 DRG1 Achchuthan Shanmugasundram edited their review of gene: DRG1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 DPYSL5 Achchuthan Shanmugasundram edited their review of gene: DPYSL5: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 DLG5 Achchuthan Shanmugasundram edited their review of gene: DLG5: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 DHX30 Achchuthan Shanmugasundram edited their review of gene: DHX30: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 DDRGK1 Achchuthan Shanmugasundram edited their review of gene: DDRGK1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 DAW1 Achchuthan Shanmugasundram edited their review of gene: DAW1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CSGALNACT1 Achchuthan Shanmugasundram edited their review of gene: CSGALNACT1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CNOT2 Achchuthan Shanmugasundram edited their review of gene: CNOT2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 CEP295 Achchuthan Shanmugasundram edited their review of gene: CEP295: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CDK10 Achchuthan Shanmugasundram edited their review of gene: CDK10: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CDH2 Achchuthan Shanmugasundram edited their review of gene: CDH2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.78 CBY1 Achchuthan Shanmugasundram edited their review of gene: CBY1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CASP2 Achchuthan Shanmugasundram edited their review of gene: CASP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CACNA1S Achchuthan Shanmugasundram edited their review of gene: CACNA1S: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 C16orf62 Achchuthan Shanmugasundram edited their review of gene: C16orf62: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 ATG7 Achchuthan Shanmugasundram edited their review of gene: ATG7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 ASXL3 Achchuthan Shanmugasundram edited their review of gene: ASXL3: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 AMOTL1 Achchuthan Shanmugasundram edited their review of gene: AMOTL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 AL117258.1 Achchuthan Shanmugasundram edited their review of gene: AL117258.1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 ADD1 Achchuthan Shanmugasundram edited their review of gene: ADD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.78 ADAMTS15 Achchuthan Shanmugasundram edited their review of gene: ADAMTS15: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 ACBD6 Achchuthan Shanmugasundram edited their review of gene: ACBD6: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.77 THSD1 Achchuthan Shanmugasundram Source Expert Review Green was added to THSD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 MSTO1 Achchuthan Shanmugasundram Mode of inheritance for gene MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 DRC1 Elizabeth Wall reviewed gene: DRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39152285, 34851034, 39462806; Phenotypes: Ciliary dyskinesia, primary, 21, MIM#615294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 DPYSL5 Elizabeth Wall reviewed gene: DPYSL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 33894126; Phenotypes: Ritscher-Schinzel syndrome 4, MIM#619435; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.75 DOHH Elizabeth Wall reviewed gene: DOHH: Rating: AMBER; Mode of pathogenicity: ; Publications: 35858628; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM#620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 DLX3 Elizabeth Wall reviewed gene: DLX3: Rating: RED; Mode of pathogenicity: ; Publications: 26762616, 26104267; Phenotypes: Trichodontoosseous syndrome, MIM#190320, Amelogenesis imperfecta, type IV, MIM#104510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.75 DLG5 Elizabeth Wall reviewed gene: DLG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 32631816, 30791088; Phenotypes: Yuksel-Vogel-Bauser syndrome, MIM#620703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 DLG4 Elizabeth Wall reviewed gene: DLG4: Rating: AMBER; Mode of pathogenicity: ; Publications: 37347881; Phenotypes: Intellectual developmental disorder, autosomal dominant 62, MIM#618793; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.75 DHX30 Elizabeth Wall reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: ; Publications: 38366977, 37094863, 34020708, 34180050, 34145223, 36643085; Phenotypes: Neurodevelopmental disorder with variable motor and language impairment, MIM#617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.75 DDRGK1 Elizabeth Wall reviewed gene: DDRGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35377455, 28263186, 35670300, 36243336; Phenotypes: Spondyloepimetaphyseal dysplasia, Shohat type, MIM#602557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 DCDC2 Elizabeth Wall reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 35570614, 34155636, 36938759, 37296768, 36816379; Phenotypes: Sclerosing cholangitis, neonatal, MIM#617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 DAW1 Elizabeth Wall reviewed gene: DAW1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36074124, 28991257; Phenotypes: Ciliary dyskinesia, primary, 52, MIM#620570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 CYP2R1 Elizabeth Wall reviewed gene: CYP2R1: Rating: RED; Mode of pathogenicity: ; Publications: 28548312, 15128933; Phenotypes: Rickets due to defect in vitamin D 25-hydroxylation deficiency, MIM#600081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 CYP27B1 Elizabeth Wall reviewed gene: CYP27B1: Rating: RED; Mode of pathogenicity: ; Publications: 34492747, 9486994, 27473561, 9415400, 33823104, 12050193; Phenotypes: Vitamin D-dependent rickets, type I, MIM#264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 CYB5R3 Elizabeth Wall reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: ; Publications: 34467556; Phenotypes: Methemoglobinemia, type II, MIM#250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.74 DRC1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DPYSL5 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DOHH Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DLX3 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DLG5 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DLG4 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DHX30 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DDRGK1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DCDC2 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DAW1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 CYP2R1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 CYP27B1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 CYB5R3 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 THSD1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: THSD1.
Tag Q1_25_ promote_green tag was added to gene: THSD1.
Fetal anomalies v5.74 ASXL3 Achchuthan Shanmugasundram Phenotypes for gene: ASXL3 were changed from Bainbridge-Ropers syndrome, OMIM:615485; Arthrogryposis to Bainbridge-Ropers syndrome, OMIM:615485
Fetal anomalies v5.73 ZNF750 Achchuthan Shanmugasundram Phenotypes for gene: ZNF750 were changed from Seborrhea-like dermatitis with psoriasiform elements, OMIM:610227; SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS to Seborrhea-like dermatitis with psoriasiform elements, OMIM:610227
Fetal anomalies v5.70 TTC25 Achchuthan Shanmugasundram Phenotypes for gene: TTC25 were changed from Ciliary dyskinesia, primary, 35, OMIM:617092; Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization to Ciliary dyskinesia, primary, 35, OMIM:617092
Fetal anomalies v5.69 TOGARAM1 Achchuthan Shanmugasundram Phenotypes for gene: TOGARAM1 were changed from Joubert syndrome 37, OMIM:619185; Cleft of the lip and palate; Hydrocephalus; Microphthalmia; Cerebral dysgenesis to Joubert syndrome 37, OMIM:619185
Fetal anomalies v5.67 THSD1 Achchuthan Shanmugasundram Phenotypes for gene: THSD1 were changed from ?Hydrops fetalis; Intracerebral aneurysms; Lymphatic malformation 13, OMIM:620244 to Lymphatic malformation 13, OMIM:620244
Fetal anomalies v5.66 TBR1 Achchuthan Shanmugasundram Phenotypes for gene: TBR1 were changed from AUTISM; Intellectual developmental disorder with autism and speech delay, OMIM:606053 to Intellectual developmental disorder with autism and speech delay, OMIM:606053
Fetal anomalies v5.65 TACR3 Achchuthan Shanmugasundram Phenotypes for gene: TACR3 were changed from HYPOGONADOTROPIC HYPOGONADISM; Hypogonadotropic hypogonadism 11 with or without anosmia, OMIM:614840 to Hypogonadotropic hypogonadism 11 with or without anosmia, OMIM:614840
Fetal anomalies v5.64 TAC3 Achchuthan Shanmugasundram Phenotypes for gene: TAC3 were changed from Hypogonadotropic hypogonadism 10 with or without anosmia, OMIM:614839; HYPOGONADOTROPIC HYPOGONADISM to Hypogonadotropic hypogonadism 10 with or without anosmia, OMIM:614839
Fetal anomalies v5.62 SNAP25 Achchuthan Shanmugasundram Phenotypes for gene: SNAP25 were changed from Epilepsy and intellectual disability; Myasthenic syndrome, congenital, 18, OMIM:616330 to Myasthenic syndrome, congenital, 18, OMIM:616330
Fetal anomalies v5.60 SMOC2 Achchuthan Shanmugasundram Phenotypes for gene: SMOC2 were changed from DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH; Dentin dysplasia, type I, with microdontia and misshapen teeth, OMIM:125400 to Dentin dysplasia, type I, with microdontia and misshapen teeth, OMIM:125400
Fetal anomalies v5.58 SLC25A4 Achchuthan Shanmugasundram Phenotypes for gene: SLC25A4 were changed from Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184 to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184
Fetal anomalies v5.56 SETD1A Achchuthan Shanmugasundram Phenotypes for gene: SETD1A were changed from INTELLECTUAL DISABILITY; Neurodevelopmental disorder with speech impairment and dysmorphic facies, OMIM:619056 to Neurodevelopmental disorder with speech impairment and dysmorphic facies, OMIM:619056
Fetal anomalies v5.50 LRBA Achchuthan Shanmugasundram Phenotypes for gene: LRBA were changed from Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700; CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA to Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700
Fetal anomalies v5.48 LOX Achchuthan Shanmugasundram Phenotypes for gene: LOX were changed from Aortopathy; Aortic aneurysm, familial thoracic 10, OMIM:617168 to Aortic aneurysm, familial thoracic 10, OMIM:617168
Fetal anomalies v5.47 LIPT2 Achchuthan Shanmugasundram Phenotypes for gene: LIPT2 were changed from Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy; Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, OMIM:617668 to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, OMIM:617668
Fetal anomalies v5.46 LIPN Achchuthan Shanmugasundram Phenotypes for gene: LIPN were changed from ICHTHYOSIS, LAMELLAR, 4; Ichthyosis, congenital, autosomal recessive 8, OMIM:613943 to Ichthyosis, congenital, autosomal recessive 8, OMIM:613943
Fetal anomalies v5.45 KCNT1 Achchuthan Shanmugasundram Phenotypes for gene: KCNT1 were changed from SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY; Developmental and epileptic encephalopathy 14, OMIM:614959 to Developmental and epileptic encephalopathy 14, OMIM:614959
Fetal anomalies v5.42 ITCH Achchuthan Shanmugasundram Phenotypes for gene: ITCH were changed from Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385; AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM to Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385
Fetal anomalies v5.41 INPP5K Achchuthan Shanmugasundram Phenotypes for gene: INPP5K were changed from Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404; Muscular dystrophy, congenital, with cataracts and intellectual disability to Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404
Fetal anomalies v5.40 GPAA1 Achchuthan Shanmugasundram Phenotypes for gene: GPAA1 were changed from Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia; Glycosylphosphatidylinositol biosynthesis defect 15, OMIM:617810 to Glycosylphosphatidylinositol biosynthesis defect 15, OMIM:617810
Fetal anomalies v5.37 GLIS2 Achchuthan Shanmugasundram Phenotypes for gene: GLIS2 were changed from NEPHRONOPHTHISIS 7; Nephronophthisis 7, OMIM:611498 to Nephronophthisis 7, OMIM:611498
Fetal anomalies v5.36 GDF2 Achchuthan Shanmugasundram Phenotypes for gene: GDF2 were changed from hydrops; Lymphatic dysplasia; Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506; hydrothorax to Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506
Fetal anomalies v5.35 FUZ Achchuthan Shanmugasundram Phenotypes for gene: FUZ were changed from Skeletal ciliopathy, MONDO:0005308; Neural tube defects 182940 to Skeletal ciliopathy, MONDO:0005308
Fetal anomalies v5.34 FTO Achchuthan Shanmugasundram Phenotypes for gene: FTO were changed from Growth retardation, developmental delay, facial dysmorphism; Growth retardation, developmental delay, facial dysmorphism, OMIM: 612938 to Growth retardation, developmental delay, facial dysmorphism, OMIM: 612938
Fetal anomalies v5.33 FN1 Achchuthan Shanmugasundram Phenotypes for gene: FN1 were changed from Spondylometaphyseal dysplasia, corner fracture type, OMIM:184255; Spondylometaphyseal Dysplasia with Corner Fractures to Spondylometaphyseal dysplasia, corner fracture type, OMIM:184255
Fetal anomalies v5.30 DHX30 Achchuthan Shanmugasundram Phenotypes for gene: DHX30 were changed from Neurodevelopmental Disorder; Neurodevelopmental disorder with variable motor and speech impairment, OMIM:617804 to Neurodevelopmental disorder with variable motor and speech impairment, OMIM:617804
Fetal anomalies v5.29 DCDC2 Achchuthan Shanmugasundram Phenotypes for gene: DCDC2 were changed from RENAL-HEPATIC CILIOPATHY; Sclerosing cholangitis, neonatal, OMIM:617394 to Sclerosing cholangitis, neonatal, OMIM:617394
Fetal anomalies v5.28 CSTA Achchuthan Shanmugasundram Phenotypes for gene: CSTA were changed from EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE; Peeling skin syndrome 4, OMIM:607936 to Peeling skin syndrome 4, OMIM:607936
Fetal anomalies v5.25 CHD8 Achchuthan Shanmugasundram Phenotypes for gene: CHD8 were changed from AUTISM; Intellectual developmental disorder with autism and macrocephaly, OMIM:615032 to Intellectual developmental disorder with autism and macrocephaly, OMIM:615032
Fetal anomalies v5.23 CD151 Achchuthan Shanmugasundram Phenotypes for gene: CD151 were changed from Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057; NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS to Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057
Fetal anomalies v5.22 CAMTA1 Achchuthan Shanmugasundram Phenotypes for gene: CAMTA1 were changed from Cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756; CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION to Cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756
Fetal anomalies v5.20 CACNA1S Achchuthan Shanmugasundram Phenotypes for gene: CACNA1S were changed from Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM:620246; Congenital myopathy; arthrogryposis to Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM:620246
Fetal anomalies v5.19 BPTF Achchuthan Shanmugasundram Phenotypes for gene: BPTF were changed from Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features; Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, OMIM:617755 to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, OMIM:617755
Fetal anomalies v5.18 ALG13 Achchuthan Shanmugasundram Phenotypes for gene: ALG13 were changed from CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS; EPILEPTIC ENCEPHALOPATHY; EPILEPTIC ENCEPHALOPATHIES.; Developmental and epileptic encephalopathy 36, OMIM:300884 to Developmental and epileptic encephalopathy 36, OMIM:300884
Fetal anomalies v5.16 C16orf62 Achchuthan Shanmugasundram commented on gene: C16orf62: The 'new-gene-name' tag has been added as the HGNC approved gene symbol is VPS35L.
Fetal anomalies v5.16 AL117258.1 Achchuthan Shanmugasundram commented on gene: AL117258.1: The 'new-gene-name' tag has been added as the HGNC approved symbol for this gene is CIROP.
Fetal anomalies v5.16 THSD1 Achchuthan Shanmugasundram commented on gene: THSD1
Fetal anomalies v5.16 RAP1B Achchuthan Shanmugasundram commented on gene: RAP1B: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 NLRP3 Achchuthan Shanmugasundram commented on gene: NLRP3: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 MDFIC Achchuthan Shanmugasundram commented on gene: MDFIC: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 KCNT1 Achchuthan Shanmugasundram commented on gene: KCNT1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 KCNK9 Achchuthan Shanmugasundram commented on gene: KCNK9: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 GNB2 Achchuthan Shanmugasundram commented on gene: GNB2: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 ESAM Achchuthan Shanmugasundram commented on gene: ESAM: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DRC1 Achchuthan Shanmugasundram commented on gene: DRC1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DPYSL5 Achchuthan Shanmugasundram commented on gene: DPYSL5: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DOHH Achchuthan Shanmugasundram commented on gene: DOHH: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DLX3 Achchuthan Shanmugasundram commented on gene: DLX3: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DLG5 Achchuthan Shanmugasundram commented on gene: DLG5: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DLG4 Achchuthan Shanmugasundram commented on gene: DLG4: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DHX30 Achchuthan Shanmugasundram commented on gene: DHX30: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DDRGK1 Achchuthan Shanmugasundram commented on gene: DDRGK1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DCDC2 Achchuthan Shanmugasundram commented on gene: DCDC2: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DAW1 Achchuthan Shanmugasundram commented on gene: DAW1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 CYP2R1 Achchuthan Shanmugasundram commented on gene: CYP2R1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 CYP27B1 Achchuthan Shanmugasundram commented on gene: CYP27B1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 CYB5R3 Achchuthan Shanmugasundram commented on gene: CYB5R3: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 CLCN5 Achchuthan Shanmugasundram commented on gene: CLCN5: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 CACHD1 Achchuthan Shanmugasundram commented on gene: CACHD1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 ARV1 Achchuthan Shanmugasundram commented on gene: ARV1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.15 ZSCAN10 Vicki Harrison reviewed gene: ZSCAN10: Rating: AMBER; Mode of pathogenicity: ; Publications: 38386308; Phenotypes: Otofacial neurodevelopmental syndrome, MIM#620910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ZRSR2 Vicki Harrison reviewed gene: ZRSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38158857; Phenotypes: Orofaciodigital syndrome, MONDO:0015375, ZRSR2-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.15 ZNF750 Vicki Harrison reviewed gene: ZNF750: Rating: RED; Mode of pathogenicity: ; Publications: 16751772; Phenotypes: Seborrhea-like dermatitis with psoriasiform elements, MIM#610227; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 ZNF687 Vicki Harrison reviewed gene: ZNF687: Rating: RED; Mode of pathogenicity: ; Publications: 29493781, 26849110; Phenotypes: Paget disease of bone 6, MIM#616833; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 ZNF423 Vicki Harrison reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: ; Publications: 39071699, 32925911, 33531950; Phenotypes: Joubert syndrome 19 / Nephronophthisis 14, MIM#614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 ZMYND8 Vicki Harrison reviewed gene: ZMYND8: Rating: AMBER; Mode of pathogenicity: ; Publications: 32530565, 35916866; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 ZFX Vicki Harrison reviewed gene: ZFX: Rating: GREEN; Mode of pathogenicity: ; Publications: 38325380; Phenotypes: Intellectual developmental disorder, X-linked syndromic 37, MIM#301118; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.15 XPNPEP3 Vicki Harrison reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: ; Publications: 32660933, 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, MIM#613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 WNT9B Vicki Harrison reviewed gene: WNT9B: Rating: AMBER; Mode of pathogenicity: ; Publications: 34145744; Phenotypes: Renal agenesis/hypoplasia/dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 WISP3 Anna de Burca reviewed gene: WISP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive pseudorheumatoid dysplasia, MIM#208230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 WDR44 Vicki Harrison reviewed gene: WDR44: Rating: GREEN; Mode of pathogenicity: ; Publications: 38191484; Phenotypes: Ciliopathy, MONDO:0005308, WDR44-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.15 WBP4 Vicki Harrison reviewed gene: WBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 37963460, 37425688; Phenotypes: Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, MIM#620852; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 WASHC5 Vicki Harrison reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 24065355; Phenotypes: Ritscher-Schinzel syndrome 1, MIM#220210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 VHL Vicki Harrison reviewed gene: VHL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: von Hippel-Lindau syndrome MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 UQCC2 Sarah Graham reviewed gene: UQCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 24385928, 28804536; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, MIM#615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 UNC45A Sarah Graham reviewed gene: UNC45A: Rating: RED; Mode of pathogenicity: ; Publications: 29429573; Phenotypes: Osteootohepatoenteric syndrome, MIM#619377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 UFSP2 Sarah Graham reviewed gene: UFSP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32755715, 33473208, 28892125, 26428751; Phenotypes: Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM#617974, Beukes Hip Dysplasia, MIM#142669; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 U2AF2 Sarah Graham reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34112922, 36747105, 37092751, 37134193; Phenotypes: Developmental delay, dysmorphic facies, and brain anomalies MIM#620535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 TYROBP Sarah Graham reviewed gene: TYROBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM#221770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TULP3 Sarah Graham reviewed gene: TULP3: Rating: RED; Mode of pathogenicity: ; Publications: 36276950, 30799239, 36460032, 30799240, 35397207; Phenotypes: Hepatorenocardiac degenerative fibrosis, MIM #619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TUFM Sarah Graham reviewed gene: TUFM: Rating: AMBER; Mode of pathogenicity: ; Publications: 26741492, 17160893; Phenotypes: Combined oxidative phosphorylation deficiency 4, MIM#610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TTC25 Samantha Doyle reviewed gene: TTC25: Rating: AMBER; Mode of pathogenicity: ; Publications: 27486780, 31765523, 34215651, 33746037, 33715250; Phenotypes: Ciliary dyskinesia, primary, 35, MIM#617092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TSHZ3 Sarah Graham reviewed gene: TSHZ3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39420202, 34919690, 36553458; Phenotypes: Congenital anomaly of kidney and urinary tract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 TRPM7 Sarah Graham reviewed gene: TRPM7: Rating: RED; Mode of pathogenicity: ; Publications: 31423533, 39621058, 35561741, 39099563, 35712613; Phenotypes: Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to, MIM#105500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 TRIT1 Sarah Graham reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32088416, 36049610; Phenotypes: Combined oxidative phosphorylation deficiency 35, MIM#617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TREM2 Sarah Graham reviewed gene: TREM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM#618193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TONSL Sarah Graham reviewed gene: TONSL: Rating: GREEN; Mode of pathogenicity: ; Publications: 32959051, 30773277, 30773278; Phenotypes: Spondyloepimetaphyseal dysplasia, sponastrime type, MIM#271510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TOMM7 Sarah Graham reviewed gene: TOMM7: Rating: AMBER; Mode of pathogenicity: ; Publications: 36299998, 36282599; Phenotypes: Garg-Mishra progeroid syndrome, MIM#620601; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TOGARAM1 Sarah Graham reviewed gene: TOGARAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32453716, 32747439; Phenotypes: Joubert syndrome 37, MIM#619185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TNRC6B Esther Kinning reviewed gene: TNRC6B: Rating: RED; Mode of pathogenicity: ; Publications: 32152250, 29463886; Phenotypes: Global developmental delay with speech and behavioral abnormalities, MIM#619243; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 TNFSF11 Sunayna Best reviewed gene: TNFSF11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 2, MIM#259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TNFRSF13B Sunayna Best reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: ; Publications: 16007087, 16007086; Phenotypes: Immunodeficiency, common variable, 2, MIM#240500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 THSD1 Sunayna Best reviewed gene: THSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27895300, 33569873, 30055085, 37993095; Phenotypes: Lymphatic malformation 13, MIM#620244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TBR1 Sunayna Best reviewed gene: TBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32005960; Phenotypes: Intellectual developmental disorder with autism and speech delay, MIM#606053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 TAF8 Sunayna Best reviewed gene: TAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 39169228; Phenotypes: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM#619972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TACR3 Sunayna Best reviewed gene: TACR3: Rating: RED; Mode of pathogenicity: ; Publications: 19079066, 20332248; Phenotypes: Hypogonadotropic hypogonadism 11 with or without anosmia, MIM#614840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TAC3 Sunayna Best reviewed gene: TAC3: Rating: RED; Mode of pathogenicity: ; Publications: 20332248; Phenotypes: Hypogonadotropic hypogonadism 10 with or without anosmia, MIM#614839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 STX5 Sunayna Best reviewed gene: STX5: Rating: AMBER; Mode of pathogenicity: ; Publications: 34711829; Phenotypes: Congenital disorder of glycosylation, type IIaa, MIM#620454; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 STAG1 Natalie Bibb reviewed gene: STAG1: Rating: RED; Mode of pathogenicity: ; Publications: 39224759, 34440290, 28119487; Phenotypes: Intellectual developmental disorder, autosomal dominant 47, MIM#617635; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v5.15 SPIN4 Sunayna Best reviewed gene: SPIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: 36927955; Phenotypes: Lui-Jee-Baron syndrome, MIM#301114; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.15 SNUPN Sunayna Best reviewed gene: SNUPN: Rating: AMBER; Mode of pathogenicity: ; Publications: 38413582, 38366623; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM#620793; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SNRPE Sunayna Best reviewed gene: SNRPE: Rating: RED; Mode of pathogenicity: ; Publications: 33792916, 9621144; Phenotypes: Hypotrichosis 11, MIM#615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 SNF8 Sunayna Best reviewed gene: SNF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 38423010; Phenotypes: Developmental and epileptic encephalopathy 115, MIM#620783, Neurodevelopmental disorder plus optic atrophy, MIM#620784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SNAP25 Sunayna Best reviewed gene: SNAP25: Rating: GREEN; Mode of pathogenicity: ; Publications: 36379720, 33299146; Phenotypes: Myasthenic syndrome, congenital, 18, MIM#616330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 SMPD1 Natalie Chandler reviewed gene: SMPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease, type A, MIM#257200, Niemann-Pick disease, type B, MIM#607616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SMOC2 Sunayna Best reviewed gene: SMOC2: Rating: RED; Mode of pathogenicity: ; Publications: 22152679, 23317772; Phenotypes: Dentin dysplasia, type I, with microdontia and misshapen teeth, MIM#125400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SLCO2A1 Stephanie Allen reviewed gene: SLCO2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: PHOAR2-enteropathy syndrome, MIM#614441, Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM#167100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 SLC4A10 Stephanie Allen reviewed gene: SLC4A10: Rating: GREEN; Mode of pathogenicity: ; Publications: 31130284, 37459438, 38054405; Phenotypes: Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM#620746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SLC35A1 Stephanie Allen reviewed gene: SLC35A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30115659, 28856833; Phenotypes: Congenital disorder of glycosylation, type IIf, MIM#603585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SLC34A3 Stephanie Allen reviewed gene: SLC34A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypophosphatemic rickets with hypercalciuria, MIM#241530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SLC34A1 Stephanie Allen reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9560283, 25050900, 12324554; Phenotypes: Infantile hypercalcemia-2, MIM#616963; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SLC30A7 Stephanie Allen reviewed gene: SLC30A7: Rating: AMBER; Mode of pathogenicity: ; Publications: 36821639; Phenotypes: Ziegler-Huang syndrome, MIM#620501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SLC25A4 Stephanie Allen reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27693233, 30013777; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 SLC24A4 Stephanie Allen reviewed gene: SLC24A4: Rating: RED; Mode of pathogenicity: ; Publications: 24621671, 23375655; Phenotypes: Amelogenesis imperfecta, type IIA5, MIM#615887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SIAH1 Esther Kinning reviewed gene: SIAH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32430360; Phenotypes: Buratti-Harel syndrome, MIM#619314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 SHROOM4 Stephanie Allen reviewed gene: SHROOM4: Rating: RED; Mode of pathogenicity: ; Publications: 32565546, 36379543; Phenotypes: Abnormal corpus callosum; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.15 SHROOM3 Stephanie Allen reviewed gene: SHROOM3: Rating: AMBER; Mode of pathogenicity: ; Publications: 32621286; Phenotypes: Neural tube defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 SH3BP2 Stephanie Allen reviewed gene: SH3BP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cherubism, MIM#118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 SGMS2 Stephanie Allen reviewed gene: SGMS2: Rating: RED; Mode of pathogenicity: ; Publications: 30779713, 32028018; Phenotypes: Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, MIM#126550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 SFRP4 Stephanie Allen reviewed gene: SFRP4: Rating: RED; Mode of pathogenicity: ; Publications: 24096177, 22387305, 28100910, 20174869, 27117872, 22965941, 27355534, 26273529; Phenotypes: Pyle disease, MIM#265900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SETD1A Stephanie Allen reviewed gene: SETD1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37000069; Phenotypes: Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM#619056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 SCYL2 Soo-Mi Park reviewed gene: SCYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 39138116, 39169672; Phenotypes: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM#618766; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SASS6 Soo-Mi Park reviewed gene: SASS6: Rating: GREEN; Mode of pathogenicity: ; Publications: 38501757, 24951542, 30639237, 36739862; Phenotypes: Microcephaly 14, primary, autosomal recessive, MIM#616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 RSPRY1 Soo-Mi Park reviewed gene: RSPRY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30063090, 38562122, 26365341; Phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM#616723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 RSPO2 Soo-Mi Park reviewed gene: RSPO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32457899, 29769720; Phenotypes: Tetraamelia syndrome 2, MIM#618021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 RRAS Soo-Mi Park reviewed gene: RRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 24705357, 32815881, 34935735; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 RRAGC Soo-Mi Park reviewed gene: RRAGC: Rating: GREEN; Mode of pathogenicity: ; Publications: 37057673, 27234373; Phenotypes: Long-Olsen-Distelmaier syndrome, MIM#620609; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 RPL13 Soo-Mi Park reviewed gene: RPL13: Rating: GREEN; Mode of pathogenicity: ; Publications: 31630789; Phenotypes: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, MIM#618728; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 ROBO2 Soo-Mi Park reviewed gene: ROBO2: Rating: RED; Mode of pathogenicity: ; Publications: 34059960, 24429398, 17357069, 26026792, 19350278, 18235093, 29194579; Phenotypes: Vesicoureteral reflux 2, MIM#610878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 ROBO1 Sarah Graham reviewed gene: ROBO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35227688, 28286008, 29194579; Phenotypes: Neurooculorenal syndrome, MIM#620305; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 RNU4-2 Soo-Mi Park reviewed gene: RNU4-2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38991538, 38821540, 38859706; Phenotypes: ReNU syndrome, MIM#620851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 RINT1 Soo-Mi Park reviewed gene: RINT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 31204009; Phenotypes: Infantile liver failure syndrome 3, MIM#618641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 RFWD3 Soo-Mi Park reviewed gene: RFWD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38058754, 2869192; Phenotypes: Fanconi anemia, complementation group W, MIM#617784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 RASGRP2 Soo-Mi Park reviewed gene: RASGRP2: Rating: RED; Mode of pathogenicity: ; Publications: 18709451, 24958846; Phenotypes: Bleeding disorder, platelet-type, 18, MIM#615888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 RAP1B Soo-Mi Park reviewed gene: RAP1B: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 37850357, 35451551, 32627184; Phenotypes: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, MIM#620654; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 RAB34 Soo-Mi Park reviewed gene: RAB34: Rating: GREEN; Mode of pathogenicity: ; Publications: 37619988, 37384395; Phenotypes: Orofaciodigital syndrome XX, MIM#620718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PUM1 Soo-Mi Park reviewed gene: PUM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25768905, 30903679, 29474920, 31859446, 35386260; Phenotypes: Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM#620719; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 PSMF1 Sarah Graham reviewed gene: PSMF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39148840; Phenotypes: Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PSMC3 Sarah Graham reviewed gene: PSMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 37256937; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 PSMB9 Sarah Graham reviewed gene: PSMB9: Rating: RED; Mode of pathogenicity: ; Publications: 33727065, 34819510; Phenotypes: Proteasome-associated autoinflammatory syndrome 6, MIM#620796; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 PRKG2 Sarah Graham reviewed gene: PRKG2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34680883, 33106379, 34782440; Phenotypes: Spondylometaphyseal dysplasia, Pagnamenta type, MIM#619638, Acromesomelic dysplasia 4, MIM#619636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PRKCSH Sarah Graham reviewed gene: PRKCSH: Rating: RED; Mode of pathogenicity: ; Publications: 24886261, 12529853, 12577059; Phenotypes: Polycystic liver disease 1 with or without kidney cysts, MIM#174050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 PLS3 Sarah Graham reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 24088043, 37751738, 29736964, 25209159, 32655496, 28777485, 29884797; Phenotypes: Diaphragmatic hernia 5, X-linked, MIM#306950; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.15 PLD1 Sarah Graham reviewed gene: PLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33645542, 27799408; Phenotypes: Cardiac valvular dysplasia 1, MIM#212093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PKDCC Sarah Graham reviewed gene: PKDCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 30478137, 19097194; Phenotypes: Rhizomelic limb shortening with dysmorphic features, MIM#618821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PISD Sarah Graham reviewed gene: PISD: Rating: AMBER; Mode of pathogenicity: ; Publications: 31263216, 30858161, 30488656, 3561949; Phenotypes: Liberfarb syndrome, MIM#618889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PIP5K1C Sarah Graham reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 17701898, 38491417; Phenotypes: Lethal congenital contractural syndrome 3, MIM#611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PIGY Sarah Graham reviewed gene: PIGY: Rating: AMBER; Mode of pathogenicity: ; Publications: 26293662, 38790248; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 6, MIM#616809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PIGS Sarah Graham reviewed gene: PIGS: Rating: GREEN; Mode of pathogenicity: ; Publications: 33410539, 37035392; Phenotypes: Developmental and epileptic encephalopathy 95, MIM#618143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PIGG Sarah Graham reviewed gene: PIGG: Rating: AMBER; Mode of pathogenicity: ; Publications: 34113002, 26996948; Phenotypes: Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, MIM#616917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PI4K2A Sarah Graham reviewed gene: PI4K2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 30564627, 35880319, 32418222; Phenotypes: Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM#620732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PHLDB1 Sarah Graham reviewed gene: PHLDB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 36543534; Phenotypes: Osteogenesis imperfecta, type XXIII, MIM#620639; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PAN2 Samantha Doyle reviewed gene: PAN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29620724, 35304602; Phenotypes: Syndromic disease MONDO:0002254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NUP214 Esther Kinning reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: 31178128, 38179855, 30758658, 3965093; Phenotypes: Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM#618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NUDT2 Samantha Doyle reviewed gene: NUDT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38141063; Phenotypes: Intellectual developmental disorder with or without peripheral neuropathy, MIM#619844; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NUAK2 Samantha Doyle reviewed gene: NUAK2: Rating: RED; Mode of pathogenicity: ; Publications: 32845958; Phenotypes: Anencephaly 2, MIM#619452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NSUN6 Samantha Doyle reviewed gene: NSUN6: Rating: GREEN; Mode of pathogenicity: ; Publications: 37226891; Phenotypes: Intellectual developmental disorder, autosomal recessive 82, MIM#620779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NSUN2 Samantha Doyle reviewed gene: NSUN2: Rating: RED; Mode of pathogenicity: ; Publications: 38643142, 37305761, 33002343, 36420349; Phenotypes: Intellectual developmental disorder, autosomal recessive 5, MIM#611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NPR3 Samantha Doyle reviewed gene: NPR3: Rating: RED; Mode of pathogenicity: ; Publications: 30032985, 10468599; Phenotypes: Boudin-Mortier syndrome, MIM#619543; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NPNT Samantha Doyle reviewed gene: NPNT: Rating: AMBER; Mode of pathogenicity: ; Publications: 17537792, 35246978, 34049960; Phenotypes: Renal agenesis, MONDO:0018470, NPNT-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NLRP3 Samantha Doyle reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CINCA syndrome, MIM#607115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 NHP2 Samantha Doyle reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 18523010; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM#613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NARS Samantha Doyle reviewed gene: NARS: Rating: RED; Mode of pathogenicity: ; Publications: 32738225, 32788587; Phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, MIM#619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, MIM#619092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 MSTO1 Sarah Graham reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28554942, 31463572, 29339779, 28544275, 30684668; Phenotypes: Myopathy, mitochondrial, and ataxia, MIM#617675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 MMP2 Samantha Doyle reviewed gene: MMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16542393; Phenotypes: Multicentric osteolysis, nodulosis, and arthropathy, MIM#259600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 MMP15 Samantha Doyle reviewed gene: MMP15: Rating: AMBER; Mode of pathogenicity: ; Publications: 34988996, 33875846; Phenotypes: Cholestasis, congenital heart disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 MIR17HG Sahar Mansour reviewed gene: MIR17HG: Rating: AMBER; Mode of pathogenicity: ; Publications: 36588757, 26360630, 30672094, 33818875; Phenotypes: Feingold syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 MDFIC Sahar Mansour reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: ; Publications: 35235341; Phenotypes: Lymphatic malformation 12, MIM#620014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 MBOAT7 Sahar Mansour reviewed gene: MBOAT7: Rating: AMBER; Mode of pathogenicity: ; Publications: 31852446, 38407511, 37628684, 33335874, 32645526, 34979703, 38088234, 32744787, 36672789; Phenotypes: Intellectual developmental disorder, autosomal recessive 57, MIM#617188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 MAX Sahar Mansour reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: ; Publications: 38141607; Phenotypes: Polydactyly-macrocephaly syndrome, MIM#620712; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 MAPKBP1 Sahar Mansour reviewed gene: MAPKBP1: Rating: RED; Mode of pathogenicity: ; Publications: 28089251; Phenotypes: Nephronophthisis 20, MIM#617271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 MAP4K4 Sahar Mansour reviewed gene: MAP4K4: Rating: GREEN; Mode of pathogenicity: ; Publications: 37126546; Phenotypes: RASopathy, MONDO:0021060, MAP4K4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 LSM11 Natalie Bibb reviewed gene: LSM11: Rating: AMBER; Mode of pathogenicity: ; Publications: 33230297; Phenotypes: Aicardi-Goutieres syndrome 8, MIM#619486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LRRK1 Sahar Mansour reviewed gene: LRRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32119750, 27055475, 31571209, 27829680; Phenotypes: Osteosclerotic metaphyseal dysplasia (OSMD), MIM#615198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LRIG2 Sahar Mansour reviewed gene: LRIG2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27855655, 30885509, 23313374; Phenotypes: Urofacial syndrome 2, MIM#615112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LRBA Sahar Mansour reviewed gene: LRBA: Rating: RED; Mode of pathogenicity: ; Publications: 25468195, 22721650, 22608502, 22981790, 26206937; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity, MIM#614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LRAT Sahar Mansour reviewed gene: LRAT: Rating: RED; Mode of pathogenicity: ; Publications: 18055821, 17011878, 11381255; Phenotypes: Leber congenital amaurosis 14,MIM#613341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LPIN2 Sahar Mansour reviewed gene: LPIN2: Rating: RED; Mode of pathogenicity: ; Publications: 29912021; Phenotypes: Majeed syndrome, MIM#609628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LOX Sahar Mansour reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 33866545, 31742715; Phenotypes: Aortic aneurysm, familial thoracic 10, MIM#617168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LNPK Sahar Mansour reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: ; Publications: 30032983, 35599435, 37794925; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM#618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LIPT2 Sahar Mansour reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28757203, 39536593; Phenotypes: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LIPN Natalie Chandler reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: ; Publications: 21439540; Phenotypes: Ichthyosis, congenital, autosomal recessive 8, MIM#613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LINS1 Natalie Chandler reviewed gene: LINS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32802957, 28181389, 38563234, 32499722, 31922598, 39138116, 34450347; Phenotypes: Intellectual developmental disorder, autosomal recessive 27, MIM#614340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LAMB2 Esther Kinning reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14136829, 15372515, 17256789; Phenotypes: Pierson syndrome, MIM#609049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LAMA5 Sarah Graham reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: ; Publications: 32439764, 35419533, 35584218, 36714636, 37985485; Phenotypes: Nephrotic syndrome, type 26, MIM#620049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 KPTN Natalie Chandler reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: ; Publications: 39083632; Phenotypes: Intellectual developmental disorder, autosomal recessive 41, MIM#615637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 KMT2B Natalie Bibb reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29276005, 33150406, 29697234; Phenotypes: Intellectual developmental disorder, autosomal dominant 68, MIM#619934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 KIF5B Natalie Chandler reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 35342932, 36018820; Phenotypes: Kyphomelic dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 KIF26A Natalie Chandler reviewed gene: KIF26A: Rating: GREEN; Mode of pathogenicity: ; Publications: 36564622; Phenotypes: Cortical dysplasia, complex, with other brain malformations 11, MIM#620156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 KIF24 Natalie Chandler reviewed gene: KIF24: Rating: GREEN; Mode of pathogenicity: ; Publications: 35748595; Phenotypes: Skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 KDR Esther Kinning reviewed gene: KDR: Rating: AMBER; Mode of pathogenicity: ; Publications: 30232381, 34113005, 28991257; Phenotypes: Hemangioma, capillary infantile, somatic, MIM#602089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 KDM5A Natalie Chandler reviewed gene: KDM5A: Rating: AMBER; Mode of pathogenicity: ; Publications: 33350388, 21937992; Phenotypes: El Hayek-Chahrour neurodevelopmental syndrome, MIM#620820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 KDM2B Natalie Chandler reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 36322151; Phenotypes: Neurodevelopmental disorder MONDO#0700092, KDM2B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 KDELR2 Natalie Chandler reviewed gene: KDELR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33053334; Phenotypes: Osteogenesis imperfecta, type XXI, MIM#619131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 KCNT1 Natalie Chandler reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36307859; Phenotypes: Developmental and epileptic encephalopathy 14, MIM#614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 KCNN3 Natalie Chandler reviewed gene: KCNN3: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33594261, 31155282; Phenotypes: Zimmermann-Laband syndrome 3, MIM#618658; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 KCNK9 Natalie Chandler reviewed gene: KCNK9: Rating: AMBER; Mode of pathogenicity: ; Publications: 36307859; Phenotypes: Birk-Barel syndrome, MIM#612292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v5.15 KCNK3 Natalie Chandler reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36195757; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 KCNJ6 Natalie Chandler reviewed gene: KCNJ6: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 34964963, 25620207, 36071510, 29852244; Phenotypes: Keppen-Lubinsky syndrome, MIM#614098; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 KCNC3 Natalie Canham reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301404; Phenotypes: Spinocerebellar ataxia 13, MIM#605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 ITCH Natalie Canham reviewed gene: ITCH: Rating: RED; Mode of pathogenicity: ; Publications: 20170897, 31091003; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 INTS13 Natalie Canham reviewed gene: INTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: 36229431; Phenotypes: Oral-facial-digital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 INTS11 Natalie Canham reviewed gene: INTS11: Rating: GREEN; Mode of pathogenicity: ; Publications: 39030370, 37054711; Phenotypes: Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM#620428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 INPP5K Natalie Canham reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: ; Publications: 33193651, 31630891, 28940338, 28190459, 28190456; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability, MIM#617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 IL1RN Natalie Canham reviewed gene: IL1RN: Rating: RED; Mode of pathogenicity: ; Publications: 19494218, 19494219; Phenotypes: Interleukin 1 receptor antagonist deficiency, MIM#612852; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 IDH2 Natalie Canham reviewed gene: IDH2: Rating: RED; Mode of pathogenicity: ; Publications: 20847235, 38782764; Phenotypes: D-2-hydroxyglutaric aciduria 2, MIM#613657; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 HECTD4 Natalie Canham reviewed gene: HECTD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 36401616; Phenotypes: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM#620250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 HEATR3 Natalie Canham reviewed gene: HEATR3: Rating: RED; Mode of pathogenicity: ; Publications: 35213692; Phenotypes: Diamond-Blackfan anemia 21, MIM#620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 GTPBP1 Natalie Canham reviewed gene: GTPBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38118446; Phenotypes: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM#620888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 GPC4 Esther Kinning reviewed gene: GPC4: Rating: AMBER; Mode of pathogenicity: ; Publications: 21567928, 30982611, 4708024, 18541962, 12605449, 9001804, 17726694; Phenotypes: Keipert syndrome, MIM#301026; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.15 GPAA1 Natalie Canham reviewed gene: GPAA1: Rating: RED; Mode of pathogenicity: ; Publications: 29100095, 37510348, 34703884, 39152716; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 GON4L Anna de Burca reviewed gene: GON4L: Rating: GREEN; Mode of pathogenicity: ; Publications: 39500882; Phenotypes: Growth impairment, microcephaly, situs inversus, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 GNB2 Natalie Canham reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31698099, 36658419, 34183358; Phenotypes: Neurodevelopmental disorder with hypotonia and dysmorphic facies, MIM#619503; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 GNAQ Natalie Canham reviewed gene: GNAQ: Rating: RED; Mode of pathogenicity: ; Publications: 37606556, 23656586, 36263782; Phenotypes: Capillary malformations, congenital, 1, somatic, mosaic, MIM#163000, Sturge-Weber syndrome, somatic, mosaic, MIM#185300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 GNAI1 Natalie Canham reviewed gene: GNAI1: Rating: RED; Mode of pathogenicity: ; Publications: 34685729, 34819662, 39083633, 38441201, 33473207; Phenotypes: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM#619854; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 GNA14 Natalie Bibb reviewed gene: GNA14: Rating: AMBER; Mode of pathogenicity: ; Publications: 38917801; Phenotypes: Congenital vascular tumours; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 GNA11 Natalie Bibb reviewed gene: GNA11: Rating: AMBER; Mode of pathogenicity: ; Publications: 27438697; Phenotypes: Hypocalciuric hypercalcemia, type II, MIM#145981, Hypocalcemia, autosomal dominant 2, MIM#615361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 GLIS2 Natalie Bibb reviewed gene: GLIS2: Rating: RED; Mode of pathogenicity: ; Publications: 31676329, 17618285, 23559409; Phenotypes: Nephronophthisis 7, MIM#611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 GDF2 Natalie Bibb reviewed gene: GDF2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32618121; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5, MIM#615506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 GALNT3 Natalie Bibb reviewed gene: GALNT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial 1, MIM#211900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 FZD6 Natalie Bibb reviewed gene: FZD6: Rating: AMBER; Mode of pathogenicity: ; Publications: 28425981, 26036949, 33082562; Phenotypes: Nail disorder, nonsyndromic congenital, 1, MIM#161050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 FZD5 Natalie Bibb reviewed gene: FZD5: Rating: RED; Mode of pathogenicity: ; Publications: 32737437, 36695497, 26908622, 33633439; Phenotypes: Microphthalmia/coloboma 11, MIM#620731; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 FUZ Natalie Bibb reviewed gene: FUZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 29068549, 34719684, 38702430; Phenotypes: Skeletal ciliopathy, MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 FTO Natalie Bibb reviewed gene: FTO: Rating: GREEN; Mode of pathogenicity: ; Publications: 19559399, 19234441, 26697951, 26378117, 26740239; Phenotypes: Growth retardation, developmental delay, facial dysmorphism, MIM#612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 FRYL Natalie Bibb reviewed gene: FRYL: Rating: AMBER; Mode of pathogenicity: ; Publications: 38479391; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, FRYL-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 FOXP4 Natalie Bibb reviewed gene: FOXP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 33110267, 36301021; Phenotypes: Neurodevelopmental disorder, congenital diaphragmatic hernia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 FOXI3 Anna de Burca reviewed gene: FOXI3: Rating: AMBER; Mode of pathogenicity: ; Publications: 36260083, 37041148, 25655429; Phenotypes: Craniofacial microsomia 2, MIM#620444; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 FOSL2 Anna de Burca reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36197437; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, MIM#620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 FN1 Anna de Burca reviewed gene: FN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32200603; Phenotypes: Spondylometaphyseal dysplasia, corner fracture type, MIM#184255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 FLCN Anna de Burca reviewed gene: FLCN: Rating: RED; Mode of pathogenicity: ; Publications: 19785621, 31266032; Phenotypes: Pneumothorax, primary spontaneous, MIM#173600, Birt-Hogg-Dube syndrome, MIM#135150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 FILIP1 Anna de Burca reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36943452, 37163662; Phenotypes: Neuromuscular disorder, congenital, with dysmorphic facies, MIM#620775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 FGF23 Sarah Graham reviewed gene: FGF23: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypophosphatemic rickets, autosomal dominant, MIM#6193100, Tumoral calcinosis, hyperphosphatemic, familial, MIM#6211900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 FGF16 Sarah Graham reviewed gene: FGF16: Rating: AMBER; Mode of pathogenicity: ; Publications: 24706454, 23709756, 25333065; Phenotypes: Metacarpal 4-5 fusion, MIM#309630; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.15 FERMT3 Sarah Graham reviewed gene: FERMT3: Rating: RED; Mode of pathogenicity: ; Publications: 19064721, 19234460; Phenotypes: Leukocyte adhesion deficiency, type III, MIM#612840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 FAS Sarah Graham reviewed gene: FAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 39384643; Phenotypes: Autoimmune lymphoproliferative syndrome, type IA, MIM#601859; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 EXPH5 Natalie Chandler reviewed gene: EXPH5: Rating: RED; Mode of pathogenicity: ; Publications: 32176379, 27730671, 23176819, 24443915, 24005056, 27384765; Phenotypes: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, MIM#615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ESAM Natalie Chandler reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 36996813, 39414991; Phenotypes: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, MIM#620371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ERI1 Natalie Chandler reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37352860, 36208065, 33942433, 28488351; Phenotypes: Spondyloepimetaphyseal dysplasia, Guo-Campeau type, MIM#620663, Hoxha-Aliu syndrome, MIM#620662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ENG Natalie Chandler reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: 36588762, 15520401, 32954511; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1, MIM#187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 EMILIN1 Natalie Chandler reviewed gene: EMILIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 36351433, 14701737; Phenotypes: Arterial tortuosity-bone fragility syndrome, MIM#620908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 EMG1 Esther Kinning reviewed gene: EMG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19463982; Phenotypes: Bowen-Conradi syndrome, MIM#211180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 EIF3B Esther Kinning reviewed gene: EIF3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Tetralogy of Fallot, bilateral cleft lip and palate, single kidney, asplenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 EFEMP1 Esther Kinning reviewed gene: EFEMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 17872905, 32006683, 33807164, 31792352, 22489068; Phenotypes: Cutis laxa, autosomal recessive, type ID, MIM#620780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 EFCAB1 Elizabeth Scotchman reviewed gene: EFCAB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36727596; Phenotypes: Ciliary dyskinesia, primary, 53, MIM#620642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 DVL2 Esther Kinning reviewed gene: DVL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33599851, 35047859, 30521570; Phenotypes: Robinow syndrome, MONDO:0019978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 DRG1 Esther Kinning reviewed gene: DRG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37179472; Phenotypes: Tan-Almurshedi syndrome, MIM#620641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 DRC1 Achchuthan Shanmugasundram reviewed gene: DRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39462806, 34851034, 39152285; Phenotypes: Ciliary dyskinesia, primary, 21, MIM#615294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 DPYSL5 Achchuthan Shanmugasundram reviewed gene: DPYSL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 33894126; Phenotypes: Ritscher-Schinzel syndrome 4, MIM#619435; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 DOHH Achchuthan Shanmugasundram reviewed gene: DOHH: Rating: AMBER; Mode of pathogenicity: ; Publications: 35858628; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM#620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 DLX3 Achchuthan Shanmugasundram reviewed gene: DLX3: Rating: RED; Mode of pathogenicity: ; Publications: 26104267, 26762616; Phenotypes: Amelogenesis imperfecta, type IV, MIM#104510, Trichodontoosseous syndrome, MIM#190320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 DLG5 Achchuthan Shanmugasundram reviewed gene: DLG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 30791088, 32631816; Phenotypes: Yuksel-Vogel-Bauser syndrome, MIM#620703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 DLG4 Achchuthan Shanmugasundram reviewed gene: DLG4: Rating: AMBER; Mode of pathogenicity: ; Publications: 37347881; Phenotypes: Intellectual developmental disorder, autosomal dominant 62, MIM#618793; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 DHX30 Achchuthan Shanmugasundram reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: ; Publications: 38366977, 34145223, 34180050, 34020708, 37094863, 36643085; Phenotypes: Neurodevelopmental disorder with variable motor and language impairment, MIM#617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 DDRGK1 Achchuthan Shanmugasundram reviewed gene: DDRGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36243336, 35670300, 35377455, 28263186; Phenotypes: Spondyloepimetaphyseal dysplasia, Shohat type, MIM#602557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 DCDC2 Achchuthan Shanmugasundram reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 36816379, 35570614, 37296768, 34155636, 36938759; Phenotypes: Sclerosing cholangitis, neonatal, MIM#617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 DAW1 Achchuthan Shanmugasundram reviewed gene: DAW1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36074124, 28991257; Phenotypes: Ciliary dyskinesia, primary, 52, MIM#620570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CYP2R1 Achchuthan Shanmugasundram reviewed gene: CYP2R1: Rating: RED; Mode of pathogenicity: ; Publications: 28548312, 15128933; Phenotypes: Rickets due to defect in vitamin D 25-hydroxylation deficiency, MIM#600081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CYP27B1 Achchuthan Shanmugasundram reviewed gene: CYP27B1: Rating: RED; Mode of pathogenicity: ; Publications: 27473561, 33823104, 9486994, 9415400, 34492747, 12050193; Phenotypes: Vitamin D-dependent rickets, type I, MIM#264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CYB5R3 Achchuthan Shanmugasundram reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: ; Publications: 34467556; Phenotypes: Methemoglobinemia, type II, MIM#250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CUL3 Elizabeth Scotchman reviewed gene: CUL3: Rating: AMBER; Mode of pathogenicity: ; Publications: 31145527, 28135719, 31512373; Phenotypes: Neurodevelopmental disorder with or without autism or seizures, MIM#619239, Pseudohypoaldosteronism, type IIE, MIM#614496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 CTSC Elizabeth Scotchman reviewed gene: CTSC: Rating: RED; Mode of pathogenicity: ; Publications: 14974080, 10662808, 32601924, 10581027, 11106356; Phenotypes: Papillon-Lefevre syndrome, MIM#245000, Haim-Munk syndrome, MIM#245010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CSTA Elizabeth Scotchman reviewed gene: CSTA: Rating: RED; Mode of pathogenicity: ; Publications: 25400170, 21944047, 12890214, 22066523; Phenotypes: Peeling skin syndrome 4, MIM#607936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CSMD1 Elizabeth Scotchman reviewed gene: CSMD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38816421; Phenotypes: Complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CSGALNACT1 Elizabeth Scotchman reviewed gene: CSGALNACT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31325655, 31705726; Phenotypes: Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM#618870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CRELD1 Elizabeth Scotchman reviewed gene: CRELD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 37947183; Phenotypes: Jeffries-Lakhani neurodevelopmental syndrome MIM#620771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 COPB2 Elizabeth Scotchman reviewed gene: COPB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34450031, 29036432; Phenotypes: Microcephaly 19, primary, autosomal recessive, MIM#617800, Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM#619884; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 CNOT2 Elizabeth Scotchman reviewed gene: CNOT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31145527, 28135719, 31512373; Phenotypes: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, MIM#618608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 CLPP Elizabeth Scotchman reviewed gene: CLPP: Rating: AMBER; Mode of pathogenicity: ; Publications: 38249302, 37932750, 34338890, 38454547; Phenotypes: Perrault syndrome 3, MIM#614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CLCN5 Elizabeth Scotchman reviewed gene: CLCN5: Rating: RED; Mode of pathogenicity: ; Publications: 36307859, 38267993, 37229200, 36495297; Phenotypes: Nephrolithiasis, type I, MIM#310468, Dent disease, MIM#300009, Hypophosphatemic rickets, MIM#300554; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.15 CHD8 Elizabeth Scotchman reviewed gene: CHD8: Rating: AMBER; Mode of pathogenicity: ; Publications: 31980904; Phenotypes: Intellectual developmental disorder with autism and macrocephaly, MIM#615032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 CHD3 Elizabeth Scotchman reviewed gene: CHD3: Rating: AMBER; Mode of pathogenicity: ; Publications: 30397230, 32483341, 39050258, 37761804; Phenotypes: Snijders Blok-Campeau syndrome, MIM#618205; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 CEP295 Anna de Burca reviewed gene: CEP295: Rating: GREEN; Mode of pathogenicity: ; Publications: 38154379; Phenotypes: Seckel syndrome 11, MIM#620767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CELSR3 Anna de Burca reviewed gene: CELSR3: Rating: AMBER; Mode of pathogenicity: ; Publications: 38429302; Phenotypes: Neurodevelopmental disorder, MONDO#0700092, CELSR3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CDK10 Anna de Burca reviewed gene: CDK10: Rating: GREEN; Mode of pathogenicity: ; Publications: 28886341, 34974531; Phenotypes: Al Kaissi syndrome, MIM#617694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CDH2 Anna de Burca reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31585109, 31650526; Phenotypes: Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM#618929; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 CD40LG Esther Kinning reviewed gene: CD40LG: Rating: AMBER; Mode of pathogenicity: ; Publications: 24631270, 6605368, 9255191, 8993019, 10228294, 35572607, 14451053; Phenotypes: Immunodeficiency, X-linked, with hyper-IgM, MIM#308230; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.15 CD151 Anna de Burca reviewed gene: CD151: Rating: RED; Mode of pathogenicity: ; Publications: 35519797, 20301543; Phenotypes: Epidermolysis bullosa simplex 7, with nephropathy and deafness, MIM#609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CBY1 Anna de Burca reviewed gene: CBY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33131181, 25103236, 25220153; Phenotypes: cerebellar ataxia, molar tooth sign, Joubert syndrome, Intellectual disability, polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CASP2 Anna de Burca reviewed gene: CASP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 37880421; Phenotypes: Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM#620653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CAPRIN1 Anna de Burca reviewed gene: CAPRIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 35979925; Phenotypes: Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM#620782; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 CAMTA1 Anna de Burca reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38044714; Phenotypes: Cerebellar dysfunction with variable cognitive and behavioral abnormalities, MIM#614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 CAMK2B Anna de Burca reviewed gene: CAMK2B: Rating: AMBER; Mode of pathogenicity: ; Publications: 37734707, 29560374, 29100089; Phenotypes: Intellectual developmental disorder, autosomal dominant 54, MIM#617799; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 CACNA1S Anna de Burca reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: ; Publications: 38111203; Phenotypes: Congenital myopathy 18 due to dihydropyridine receptor defect, MIM#620246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CACHD1 Anna de Burca reviewed gene: CACHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38158856; Phenotypes: Syndromic complex neurodevelopmental disorder, MONDO:0800439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 C1GALT1C1 Anna de Burca reviewed gene: C1GALT1C1: Rating: AMBER; Mode of pathogenicity: ; Publications: 36599939, 37216524; Phenotypes: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, MIM#301110; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.15 C16orf62 Vicki Harrison reviewed gene: C16orf62: Rating: GREEN; Mode of pathogenicity: ; Publications: 36113987; Phenotypes: Ritscher-Schinzel syndrome 3, MIM#619135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 BPTF Alice Gardham reviewed gene: BPTF: Rating: RED; Mode of pathogenicity: ; Publications: 36153657, 33522091; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM#617755; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 AXIN1 Alice Gardham reviewed gene: AXIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 37582359; Phenotypes: Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM#620558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ATG7 Esther Kinning reviewed gene: ATG7: Rating: GREEN; Mode of pathogenicity: ; Publications: 34161705, 16625205, 17726112; Phenotypes: Spinocerebellar ataxia, autosomal recessive 31, MIM#619422; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ASXL3 Alice Gardham reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38420660; Phenotypes: Bainbridge-Ropers syndrome, MIM#615485; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 ASPH Alice Gardham reviewed gene: ASPH: Rating: RED; Mode of pathogenicity: ; Publications: 11241487, 23687502, 30194805, 8749053, 24768550; Phenotypes: Traboulsi syndrome, MIM#601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ASCC3 Alice Gardham reviewed gene: ASCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 21937992, 35047834; Phenotypes: Intellectual developmental disorder, autosomal recessive 81, MIM#620700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ARV1 Alice Gardham reviewed gene: ARV1: Rating: AMBER; Mode of pathogenicity: ; Publications: 36307859, 34296759; Phenotypes: Developmental and epileptic encephalopathy 38, MIM#617020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 AMOTL1 Alice Gardham reviewed gene: AMOTL1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36751037; Phenotypes: Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 ALG5 Alice Gardham reviewed gene: ALG5: Rating: RED; Mode of pathogenicity: ; Publications: 35896117; Phenotypes: Polycystic kidney disease 7, MIM#620056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 ALG13 Alice Gardham reviewed gene: ALG13: Rating: AMBER; Mode of pathogenicity: ; Publications: 32681751; Phenotypes: Developmental and epileptic encephalopathy 36, MIM#300884; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.15 ALG11 Alice Gardham reviewed gene: ALG11: Rating: AMBER; Mode of pathogenicity: ; Publications: 30770273; Phenotypes: Congenital disorder of glycosylation, type Ip, MIM#613661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 AL117258.1 Elizabeth Scotchman reviewed gene: AL117258.1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34903892, 39513328; Phenotypes: Heterotaxy, visceral, 12, autosomal, MIM#619702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ADD1 Alice Gardham reviewed gene: ADD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34906466; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, ADD1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 ADAMTS15 Alice Gardham reviewed gene: ADAMTS15: Rating: GREEN; Mode of pathogenicity: ; Publications: 35962790; Phenotypes: Arthrogryposis, distal, type 12, MIM#620545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ACBD6 Alice Gardham reviewed gene: ACBD6: Rating: GREEN; Mode of pathogenicity: ; Publications: 36457943, 34296759, 37951597; Phenotypes: Neurodevelopmental disorder with progressive movement abnormalities, MIM#620785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ABCD4 Alice Gardham reviewed gene: ABCD4: Rating: AMBER; Mode of pathogenicity: ; Publications: 33729671; Phenotypes: Methylmalonic aciduria and homocystinuria, cblJ type, MIM#614857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.13 ZNF750 Achchuthan Shanmugasundram Source NHS GMS was added to ZNF750.
Source Expert Review Red was added to ZNF750.
Added phenotypes Seborrhea-like dermatitis with psoriasiform elements, OMIM:610227 for gene: ZNF750
Publications for gene: ZNF750 were updated from to 16751772
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 ZFX Achchuthan Shanmugasundram gene: ZFX was added
gene: ZFX was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ZFX 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: ZFX were set to 38325380
Phenotypes for gene: ZFX were set to Intellectual developmental disorder, X-linked syndromic 37, OMIM:301118
Fetal anomalies v5.13 XPNPEP3 Achchuthan Shanmugasundram gene: XPNPEP3 was added
gene: XPNPEP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPNPEP3 were set to 32660933; 20179356
Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1 OMIM:613159
Fetal anomalies v5.13 WDR44 Achchuthan Shanmugasundram gene: WDR44 was added
gene: WDR44 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: WDR44 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: WDR44 were set to 38191484
Phenotypes for gene: WDR44 were set to Ciliopathy, MONDO:0005308, WDR44-related
Fetal anomalies v5.13 WBP4 Achchuthan Shanmugasundram gene: WBP4 was added
gene: WBP4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WBP4 were set to 37963460; 37425688
Phenotypes for gene: WBP4 were set to Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, OMIM:620852
Fetal anomalies v5.13 TYROBP Achchuthan Shanmugasundram gene: TYROBP was added
gene: TYROBP was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, OMIM:221770
Fetal anomalies v5.13 TREM2 Achchuthan Shanmugasundram gene: TREM2 was added
gene: TREM2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193
Fetal anomalies v5.13 TNRC6B Achchuthan Shanmugasundram gene: TNRC6B was added
gene: TNRC6B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TNRC6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNRC6B were set to 29463886; 32152250
Phenotypes for gene: TNRC6B were set to Global developmental delay with speech and behavioral abnormalities, OMIM:61924
Fetal anomalies v5.13 TNFRSF13B Achchuthan Shanmugasundram Source NHS GMS was added to TNFRSF13B.
Source Expert Review Red was added to TNFRSF13B.
Mode of inheritance for gene TNFRSF13B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency, common variable, 2, OMIM:240500 for gene: TNFRSF13B
Publications for gene: TNFRSF13B were updated from to 16007087; 16007086
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 THSD1 Achchuthan Shanmugasundram Source NHS GMS was added to THSD1.
Added phenotypes Lymphatic malformation 13, OMIM:620244 for gene: THSD1
Publications for gene: THSD1 were updated from 26036949; 28749478 to 26036949; 30055085; 33569873; 27895300; 28749478; 37993095
Fetal anomalies v5.13 TBR1 Achchuthan Shanmugasundram Source NHS GMS was added to TBR1.
Mode of inheritance for gene TBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder with autism and speech delay, OMIM:606053 for gene: TBR1
Publications for gene: TBR1 were updated from to 32005960
Fetal anomalies v5.13 TAF8 Achchuthan Shanmugasundram gene: TAF8 was added
gene: TAF8 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF8 were set to 39169228
Phenotypes for gene: TAF8 were set to Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972
Fetal anomalies v5.13 TACR3 Achchuthan Shanmugasundram Source NHS GMS was added to TACR3.
Source Expert Review Red was added to TACR3.
Added phenotypes Hypogonadotropic hypogonadism 11 with or without anosmia, OMIM:614840 for gene: TACR3
Publications for gene: TACR3 were updated from to 20332248; 19079066
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 TAC3 Achchuthan Shanmugasundram Source NHS GMS was added to TAC3.
Source Expert Review Red was added to TAC3.
Added phenotypes Hypogonadotropic hypogonadism 10 with or without anosmia, OMIM:614839 for gene: TAC3
Publications for gene: TAC3 were updated from to 20332248
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 STAG1 Achchuthan Shanmugasundram Source NHS GMS was added to STAG1.
Mode of inheritance for gene STAG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes Intellectual developmental disorder, autosomal dominant 47, OMIM:617635 for gene: STAG1
Publications for gene: STAG1 were updated from to 28119487; 39224759; 34440290
Fetal anomalies v5.13 SPIN4 Achchuthan Shanmugasundram gene: SPIN4 was added
gene: SPIN4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SPIN4 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: SPIN4 were set to 36927955
Phenotypes for gene: SPIN4 were set to ?Lui-Jee-Baron syndrome, OMIM:301114
Fetal anomalies v5.13 SNF8 Achchuthan Shanmugasundram gene: SNF8 was added
gene: SNF8 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SNF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNF8 were set to 38423010
Phenotypes for gene: SNF8 were set to Neurodevelopmental disorder plus optic atrophy, OMIM:620784; Developmental and epileptic encephalopathy 115, OMIM:620783
Fetal anomalies v5.13 SNAP25 Achchuthan Shanmugasundram Source NHS GMS was added to SNAP25.
Mode of inheritance for gene SNAP25 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Myasthenic syndrome, congenital, 18, OMIM:616330 for gene: SNAP25
Publications for gene: SNAP25 were updated from to 33299146; 36379720
Fetal anomalies v5.13 SMOC2 Achchuthan Shanmugasundram Source NHS GMS was added to SMOC2.
Source Expert Review Red was added to SMOC2.
Added phenotypes Dentin dysplasia, type I, with microdontia and misshapen teeth, OMIM:125400 for gene: SMOC2
Publications for gene: SMOC2 were updated from to 22152679; 23317772
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 SLCO2A1 Achchuthan Shanmugasundram gene: SLCO2A1 was added
gene: SLCO2A1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SLCO2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal dominant, OMIM:167100; PHOAR2-enteropathy syndrome, OMIM:614441
Fetal anomalies v5.13 SLC4A10 Achchuthan Shanmugasundram gene: SLC4A10 was added
gene: SLC4A10 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A10 were set to 38054405; 37459438; 31130284
Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746
Fetal anomalies v5.13 SLC34A3 Achchuthan Shanmugasundram gene: SLC34A3 was added
gene: SLC34A3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria, OMIM:241530
Fetal anomalies v5.13 SLC25A4 Achchuthan Shanmugasundram Source NHS GMS was added to SLC25A4.
Mode of inheritance for gene SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184 for gene: SLC25A4
Publications for gene: SLC25A4 were updated from to 27693233; 30013777
Fetal anomalies v5.13 SGMS2 Achchuthan Shanmugasundram gene: SGMS2 was added
gene: SGMS2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SGMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGMS2 were set to 32028018; 30779713
Phenotypes for gene: SGMS2 were set to Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, OMIM:126550
Fetal anomalies v5.13 SETD1A Achchuthan Shanmugasundram Source NHS GMS was added to SETD1A.
Added phenotypes Neurodevelopmental disorder with speech impairment and dysmorphic facies, OMIM:619056 for gene: SETD1A
Publications for gene: SETD1A were updated from to 37000069
Fetal anomalies v5.13 SCYL2 Achchuthan Shanmugasundram gene: SCYL2 was added
gene: SCYL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL2 were set to 39138116; 39169672
Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, OMIM:618766
Fetal anomalies v5.13 RRAS Achchuthan Shanmugasundram Source NHS GMS was added to RRAS.
Mode of pathogenicity for gene RRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Noonan syndrome, MONDO:0018997 for gene: RRAS
Publications for gene: RRAS were updated from 24705357; 32815881; 34935735 to 34935735; 32815881; 24705357
Fetal anomalies v5.13 RAP1B Achchuthan Shanmugasundram Source Expert Review Amber was added to RAP1B.
Mode of pathogenicity for gene RAP1B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Publications for gene: RAP1B were updated from 26280580; 32627184 to 35451551; 37850357; 26280580; 32627184
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v5.13 PUM1 Achchuthan Shanmugasundram gene: PUM1 was added
gene: PUM1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PUM1 were set to 30903679; 29474920; 25768905; 35386260; 31859446
Phenotypes for gene: PUM1 were set to Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, OMIM:620719
Fetal anomalies v5.13 PSMF1 Achchuthan Shanmugasundram gene: PSMF1 was added
gene: PSMF1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMF1 were set to 39148840
Phenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Fetal anomalies v5.13 PRKCSH Achchuthan Shanmugasundram gene: PRKCSH was added
gene: PRKCSH was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKCSH were set to 12577059; 24886261; 12529853
Phenotypes for gene: PRKCSH were set to Polycystic liver disease 1 with or without kidney cysts, OMIM:174050
Fetal anomalies v5.13 PLS3 Achchuthan Shanmugasundram gene: PLS3 was added
gene: PLS3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PLS3 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: PLS3 were set to 32655496; 28777485; 29736964; 37751738; 25209159; 29884797; 24088043
Phenotypes for gene: PLS3 were set to Diaphragmatic hernia 5, X-linked, OMIM:306950
Mode of pathogenicity for gene: PLS3 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 v5.13 PKDCC Achchuthan Shanmugasundram gene: PKDCC was added
gene: PKDCC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKDCC were set to 19097194; 30478137
Phenotypes for gene: PKDCC were set to Rhizomelic limb shortening with dysmorphic features, OMIM:618821
Fetal anomalies v5.13 PIP5K1C Achchuthan Shanmugasundram gene: PIP5K1C was added
gene: PIP5K1C was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIP5K1C were set to 38491417; 17701898
Phenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3, OMIM:611369
Fetal anomalies v5.13 PIGY Achchuthan Shanmugasundram Source NHS GMS was added to PIGY.
Added phenotypes Hyperphosphatasia with impaired intellectual development syndrome 6, OMIM:616809 for gene: PIGY
Publications for gene: PIGY were updated from to 26293662; 38790248
Fetal anomalies v5.13 PIGG Achchuthan Shanmugasundram Source NHS GMS was added to PIGG.
Added phenotypes Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917 for gene: PIGG
Publications for gene: PIGG were updated from to 26996948; 34113002
Fetal anomalies v5.13 PI4K2A Achchuthan Shanmugasundram gene: PI4K2A was added
gene: PI4K2A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4K2A were set to 35880319; 32418222; 30564627
Phenotypes for gene: PI4K2A were set to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732
Fetal anomalies v5.13 NUP214 Achchuthan Shanmugasundram gene: NUP214 was added
gene: NUP214 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128; 38179855; 30758658; 3965093
Phenotypes for gene: NUP214 were set to Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426
Fetal anomalies v5.13 NUDT2 Achchuthan Shanmugasundram gene: NUDT2 was added
gene: NUDT2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to 38141063
Phenotypes for gene: NUDT2 were set to Intellectual developmental disorder with or without peripheral neuropathy, OMIM:619844
Fetal anomalies v5.13 NARS Achchuthan Shanmugasundram gene: NARS was added
gene: NARS was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225; 32788587
Phenotypes for gene: NARS were set to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092
Fetal anomalies v5.13 MMP2 Achchuthan Shanmugasundram gene: MMP2 was added
gene: MMP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP2 were set to 16542393
Phenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy, OMIM:259600
Fetal anomalies v5.13 MAPKBP1 Achchuthan Shanmugasundram gene: MAPKBP1 was added
gene: MAPKBP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKBP1 were set to 28089251
Phenotypes for gene: MAPKBP1 were set to Nephronophthisis 20, OMIM:617271
Fetal anomalies v5.13 MAP4K4 Achchuthan Shanmugasundram gene: MAP4K4 was added
gene: MAP4K4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP4K4 were set to 37126546
Phenotypes for gene: MAP4K4 were set to RASopathy, MONDO:0021060, MAP4K4-related
Fetal anomalies v5.13 LRBA Achchuthan Shanmugasundram Source NHS GMS was added to LRBA.
Source Expert Review Red was added to LRBA.
Added phenotypes Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700 for gene: LRBA
Publications for gene: LRBA were updated from to 22721650; 22981790; 25468195; 26206937; 22608502
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 LOX Achchuthan Shanmugasundram Source NHS GMS was added to LOX.
Added phenotypes Aortic aneurysm, familial thoracic 10, OMIM:617168 for gene: LOX
Publications for gene: LOX were updated from 31742715 to 31742715; 33866545
Fetal anomalies v5.13 LNPK Achchuthan Shanmugasundram gene: LNPK was added
gene: LNPK was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LNPK were set to 30032983; 35599435; 37794925
Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090
Fetal anomalies v5.13 LIPT2 Achchuthan Shanmugasundram Source NHS GMS was added to LIPT2.
Added phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, OMIM:617668 for gene: LIPT2
Publications for gene: LIPT2 were updated from to 28757203; 39536593
Fetal anomalies v5.13 LIPN Achchuthan Shanmugasundram Source NHS GMS was added to LIPN.
Source Expert Review Red was added to LIPN.
Added phenotypes Ichthyosis, congenital, autosomal recessive 8, OMIM:613943 for gene: LIPN
Publications for gene: LIPN were updated from to 21439540
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 KIF26A Achchuthan Shanmugasundram gene: KIF26A was added
gene: KIF26A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF26A were set to 36564622
Phenotypes for gene: KIF26A were set to Cortical dysplasia, complex, with other brain malformations 11, OMIM:620156
Fetal anomalies v5.13 KDM5A Achchuthan Shanmugasundram gene: KDM5A was added
gene: KDM5A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KDM5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KDM5A were set to 33350388; 21937992
Phenotypes for gene: KDM5A were set to El Hayek-Chahrour neurodevelopmental syndrome, OMIM:620820
Fetal anomalies v5.13 KCNT1 Achchuthan Shanmugasundram Source NHS GMS was added to KCNT1.
Mode of pathogenicity for gene KCNT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Developmental and epileptic encephalopathy 14, OMIM:614959 for gene: KCNT1
Publications for gene: KCNT1 were updated from to 36307859
Fetal anomalies v5.13 KCNN3 Achchuthan Shanmugasundram gene: KCNN3 was added
gene: KCNN3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNN3 were set to 31155282; 33594261
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3, OMIM:618658
Mode of pathogenicity for gene: KCNN3 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 v5.13 KCNK3 Achchuthan Shanmugasundram gene: KCNK3 was added
gene: KCNK3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK3 were set to 36195757
Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related
Mode of pathogenicity for gene: KCNK3 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 v5.13 KCNJ6 Achchuthan Shanmugasundram Source NHS GMS was added to KCNJ6.
Source Expert Review Red was added to KCNJ6.
Mode of inheritance for gene KCNJ6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene KCNJ6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Keppen-Lubinsky syndrome, OMIM:614098 for gene: KCNJ6
Publications for gene: KCNJ6 were updated from to 34964963; 36071510; 25620207; 29852244
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 ITCH Achchuthan Shanmugasundram Source NHS GMS was added to ITCH.
Source Expert Review Red was added to ITCH.
Added phenotypes Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385 for gene: ITCH
Publications for gene: ITCH were updated from to 20170897; 31091003
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 INTS11 Achchuthan Shanmugasundram gene: INTS11 was added
gene: INTS11 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS11 were set to 37054711; 39030370
Phenotypes for gene: INTS11 were set to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
Fetal anomalies v5.13 INPP5K Achchuthan Shanmugasundram Source NHS GMS was added to INPP5K.
Added phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404 for gene: INPP5K
Publications for gene: INPP5K were updated from to 28190456; 33193651; 28940338; 28190459; 31630891
Fetal anomalies v5.13 HECTD4 Achchuthan Shanmugasundram gene: HECTD4 was added
gene: HECTD4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HECTD4 were set to 36401616
Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250
Fetal anomalies v5.13 GTPBP1 Achchuthan Shanmugasundram gene: GTPBP1 was added
gene: GTPBP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP1 were set to 38118446
Phenotypes for gene: GTPBP1 were set to Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888
Fetal anomalies v5.13 GPAA1 Achchuthan Shanmugasundram Source NHS GMS was added to GPAA1.
Source Expert Review Red was added to GPAA1.
Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, OMIM:617810 for gene: GPAA1
Publications for gene: GPAA1 were updated from to 37510348; 34703884; 29100095; 39152716
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 GLIS2 Achchuthan Shanmugasundram Source NHS GMS was added to GLIS2.
Source Expert Review Red was added to GLIS2.
Added phenotypes Nephronophthisis 7, OMIM:611498 for gene: GLIS2
Publications for gene: GLIS2 were updated from to 17618285; 23559409; 31676329
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 FUZ Achchuthan Shanmugasundram Source NHS GMS was added to FUZ.
Source Expert Review Amber was added to FUZ.
Mode of inheritance for gene FUZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Skeletal ciliopathy, MONDO:0005308 for gene: FUZ
Publications for gene: FUZ were updated from to 29068549; 34719684; 38702430
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v5.13 FTO Achchuthan Shanmugasundram Source NHS GMS was added to FTO.
Added phenotypes Growth retardation, developmental delay, facial dysmorphism, OMIM: 612938 for gene: FTO
Publications for gene: FTO were updated from 19559399; 26378117; 31130284 to 19234441; 26697951; 26378117; 19559399; 26740239; 31130284
Fetal anomalies v5.13 FOXI3 Achchuthan Shanmugasundram gene: FOXI3 was added
gene: FOXI3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FOXI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FOXI3 were set to 25655429; 36260083; 37041148
Phenotypes for gene: FOXI3 were set to Craniofacial microsomia 2, OMIM:620444
Fetal anomalies v5.13 FLCN Achchuthan Shanmugasundram gene: FLCN was added
gene: FLCN was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLCN were set to 19785621; 31266032
Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome, 135150; Pneumothorax, primary spontaneous, OMIM:173600
Fetal anomalies v5.13 FILIP1 Achchuthan Shanmugasundram gene: FILIP1 was added
gene: FILIP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FILIP1 were set to 36943452; 37163662
Phenotypes for gene: FILIP1 were set to Neuromuscular disorder, congenital, with dysmorphic facies, OMIM:620775
Fetal anomalies v5.13 FAS Achchuthan Shanmugasundram gene: FAS was added
gene: FAS was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FAS were set to 39384643
Phenotypes for gene: FAS were set to Autoimmune lymphoproliferative syndrome, type IA, OMIM:601859
Fetal anomalies v5.13 DOHH Achchuthan Shanmugasundram gene: DOHH was added
gene: DOHH was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOHH were set to 35858628
Phenotypes for gene: DOHH were set to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066
Fetal anomalies v5.13 DHX30 Achchuthan Shanmugasundram Source NHS GMS was added to DHX30.
Mode of inheritance for gene DHX30 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neurodevelopmental disorder with variable motor and speech impairment, OMIM:617804 for gene: DHX30
Publications for gene: DHX30 were updated from to 34020708; 38366977; 34145223; 34180050; 37094863; 36643085
Fetal anomalies v5.13 CYB5R3 Achchuthan Shanmugasundram Source NHS GMS was added to CYB5R3.
Added phenotypes Methemoglobinemia, type II, OMIM:250800 for gene: CYB5R3
Publications for gene: CYB5R3 were updated from to 34467556
Fetal anomalies v5.13 CUL3 Achchuthan Shanmugasundram gene: CUL3 was added
gene: CUL3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUL3 were set to 31512373; 31145527; 28135719
Phenotypes for gene: CUL3 were set to Neurodevelopmental disorder with or without autism or seizures, OMIM:619239; Pseudohypoaldosteronism, type IIE, OMIM:614496
Fetal anomalies v5.13 CSGALNACT1 Achchuthan Shanmugasundram gene: CSGALNACT1 was added
gene: CSGALNACT1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSGALNACT1 were set to 31705726; 31325655
Phenotypes for gene: CSGALNACT1 were set to Skeletal dysplasia, mild, with joint laxity and advanced bone age, OMIM:618870
Fetal anomalies v5.13 COPB2 Achchuthan Shanmugasundram gene: COPB2 was added
gene: COPB2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COPB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COPB2 were set to 34450031; 29036432
Phenotypes for gene: COPB2 were set to ?Microcephaly 19, primary, autosomal recessive, OMIM:617800; Osteoporosis, childhood- or juvenile-onset, with developmental delay, OMIM:619884
Fetal anomalies v5.13 CNOT2 Achchuthan Shanmugasundram gene: CNOT2 was added
gene: CNOT2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT2 were set to 31512373; 31145527; 28135719
Phenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, OMIM:618608
Fetal anomalies v5.13 CHD8 Achchuthan Shanmugasundram Source NHS GMS was added to CHD8.
Mode of inheritance for gene CHD8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder with autism and macrocephaly, OMIM:615032 for gene: CHD8
Publications for gene: CHD8 were updated from to 31980904
Fetal anomalies v5.13 CD40LG Achchuthan Shanmugasundram gene: CD40LG was added
gene: CD40LG was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CD40LG were set to 8993019; 10228294; 14451053; 24631270; 35572607; 6605368; 9255191
Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM, OMIM:308230
Fetal anomalies v5.13 CD151 Achchuthan Shanmugasundram Source NHS GMS was added to CD151.
Source Expert Review Red was added to CD151.
Added phenotypes Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057 for gene: CD151
Publications for gene: CD151 were updated from to 35519797; 20301543
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 CBY1 Achchuthan Shanmugasundram gene: CBY1 was added
gene: CBY1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25220153; 25103236
Phenotypes for gene: CBY1 were set to Intellectual disability; Joubert syndrome; Cerebellar ataxia; Polydactyly; Molar tooth sign
Fetal anomalies v5.13 CASP2 Achchuthan Shanmugasundram gene: CASP2 was added
gene: CASP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP2 were set to 37880421
Phenotypes for gene: CASP2 were set to Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653
Fetal anomalies v5.13 CAPRIN1 Achchuthan Shanmugasundram gene: CAPRIN1 was added
gene: CAPRIN1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAPRIN1 were set to 35979925
Phenotypes for gene: CAPRIN1 were set to Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, OMIM:620782
Fetal anomalies v5.13 CAMTA1 Achchuthan Shanmugasundram Source NHS GMS was added to CAMTA1.
Mode of inheritance for gene CAMTA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756 for gene: CAMTA1
Publications for gene: CAMTA1 were updated from to 38044714
Fetal anomalies v5.13 CACNA1S Achchuthan Shanmugasundram Source NHS GMS was added to CACNA1S.
Added phenotypes Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM:620246 for gene: CACNA1S
Publications for gene: CACNA1S were updated from 28012042; 33060286 to 28012042; 38111203; 33060286
Fetal anomalies v5.13 C1GALT1C1 Achchuthan Shanmugasundram gene: C1GALT1C1 was added
gene: C1GALT1C1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: C1GALT1C1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: C1GALT1C1 were set to 36599939; 37216524
Phenotypes for gene: C1GALT1C1 were set to Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, OMIM:301110
Fetal anomalies v5.13 BPTF Achchuthan Shanmugasundram Source NHS GMS was added to BPTF.
Source Expert Review Red was added to BPTF.
Mode of inheritance for gene BPTF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, OMIM:617755 for gene: BPTF
Publications for gene: BPTF were updated from to 33522091; 36153657
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 AXIN1 Achchuthan Shanmugasundram gene: AXIN1 was added
gene: AXIN1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AXIN1 were set to 37582359
Phenotypes for gene: AXIN1 were set to Craniometadiaphyseal osteosclerosis with hip dysplasia, OMIM:620558
Fetal anomalies v5.13 AMOTL1 Achchuthan Shanmugasundram gene: AMOTL1 was added
gene: AMOTL1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMOTL1 were set to 36751037
Phenotypes for gene: AMOTL1 were set to Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related
Mode of pathogenicity for gene: AMOTL1 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 v5.13 ALG13 Achchuthan Shanmugasundram Source NHS GMS was added to ALG13.
Added phenotypes Developmental and epileptic encephalopathy 36, OMIM:300884 for gene: ALG13
Publications for gene: ALG13 were updated from to 32681751
Fetal anomalies v5.13 ADD1 Achchuthan Shanmugasundram gene: ADD1 was added
gene: ADD1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ADD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADD1 were set to 34906466
Phenotypes for gene: ADD1 were set to Neurodevelopmental disorder, MONDO:0700092, ADD1-related
Fetal anomalies v5.13 ADAMTS15 Achchuthan Shanmugasundram gene: ADAMTS15 was added
gene: ADAMTS15 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS15 were set to 35962790
Phenotypes for gene: ADAMTS15 were set to Arthrogryposis, distal, type 12, OMIM:620545
Fetal anomalies v5.13 ACBD6 Achchuthan Shanmugasundram gene: ACBD6 was added
gene: ACBD6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD6 were set to 37951597; 36457943; 34296759
Phenotypes for gene: ACBD6 were set to Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785
Fetal anomalies v5.11 ABCD4 Achchuthan Shanmugasundram Phenotypes for gene: ABCD4 were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE to Methylmalonic aciduria and homocystinuria, cblJ type, OMIM:614857
Fetal anomalies v5.10 ITGAV Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four foetuses from a single family and functional data reported. Hence, this gene can be rated amber with current evidence.
Fetal anomalies v5.9 ITGAV Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39526957 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Fetal anomalies v5.8 ITGAV Achchuthan Shanmugasundram gene: ITGAV was added
gene: ITGAV was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ITGAV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGAV were set to 39526957
Phenotypes for gene: ITGAV were set to syndromic disease, MONDO:0002254
Review for gene: ITGAV was set to AMBER
Added comment: PMID:39526957 reported the identification of biallelic ITGAV variants in two unrelated patients and four foetuses from a third family. The two patients were reported with complex phenotype including global developmental delay, eye and brain abnormalities, inflammatory bowel disease and immune dysregulation. The four foetuses were reported with brain and skull abnormalities. There is also functional evidence in support of the association.

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Fetal anomalies v5.7 CACHD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two fetal cases reported from the same family, although there are six cases from four families reported in total. In addition, there is functional evidence. Hence, this gene can be rated amber with the current evidence.
Fetal anomalies v5.6 CACHD1 Achchuthan Shanmugasundram gene: CACHD1 was added
gene: CACHD1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CACHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACHD1 were set to 38158856
Phenotypes for gene: CACHD1 were set to syndromic complex neurodevelopmental disorder, MONDO:0800439
Review for gene: CACHD1 was set to AMBER
Added comment: PMID:38158856 reported six affected individuals from four unrelated families with biallelic (either homozygous or compound heterozygous) CACHD1 variants (3 splice, 2 frameshift and 1 nonsense variant).

Of these, two cases from the fourth family are fetal cases. Excluding these two fatal cases, all others were affected by syndromic neurodevelopmental abnormalities, multiple organ systems featuring global impairment of psychomotor development, dysmorphic facial features, genitourinary abnormalities, oculo-auricular and congenital malformation. Cognitive impairment was reported to be mild in three cases from three different families, while the fourth case had no cognitive impairment. Psychomotor delay was reported in two unrelated cases and seizure was reported in one.

Facial dysmorphism and ear and genitourinary abnormalities were reported in the two fetal cases, while congenital malformations of the digestive tract was reported in one of them.

Functional evidence from human stem cell-derived neural models and zebrafish mutants are also available in support of the disease association.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Fetal anomalies v5.5 EXOSC5 Sarah Leigh reviewed gene: EXOSC5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v4.198 SCN4A Sarah Graham reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Classic congenital myopathy-22A, 620351, Severe fetal congenital myopathy-22B, 620369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v4.198 SCN4A Sarah Graham Deleted their review
Fetal anomalies v4.198 SCN4A Sarah Graham reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Classic congenital myopathy-22A, 620351, Severe fetal congenital myopathy-22B, 620369; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v4.198 SIRT6 Dmitrijs Rots gene: SIRT6 was added
gene: SIRT6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SIRT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIRT6 were set to PMID: 29555651
Penetrance for gene: SIRT6 were set to Complete
Review for gene: SIRT6 was set to GREEN
Added comment: The paper describes:"Here, we demonstrate that a homozygous inactivating mutation in the histone deacetylase SIRT6 results in severe congenital anomalies and perinatal lethality in four affected fetuses. " + functional data --> enough evidence for the green rating
Sources: Literature
Fetal anomalies v4.197 XYLT1 Sarah Leigh commented on gene: XYLT1: There is enough evidence for XYLT1_GGC to be green on this panel. At least ten patients from at least eight families have either homozygous or compound heterozygous (with other XYLT1 variants) XYLT1_GGC expansions (PMID: 22711505;30554721).
Fetal anomalies v4.197 XYLT1 Sarah Leigh reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v4.192 THOC2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: THOC2.
Tag Q3_24_NHS_review was removed from gene: THOC2.
Fetal anomalies v4.192 ZNF699 Achchuthan Shanmugasundram edited their review of gene: ZNF699: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ZNF526 Achchuthan Shanmugasundram edited their review of gene: ZNF526: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ZNF462 Achchuthan Shanmugasundram edited their review of gene: ZNF462: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ZNF335 Achchuthan Shanmugasundram edited their review of gene: ZNF335: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ZMYM2 Achchuthan Shanmugasundram edited their review of gene: ZMYM2: Added comment: The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ZMIZ1 Achchuthan Shanmugasundram edited their review of gene: ZMIZ1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 WWOX Achchuthan Shanmugasundram edited their review of gene: WWOX: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 WDR4 Achchuthan Shanmugasundram edited their review of gene: WDR4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 WDR37 Achchuthan Shanmugasundram edited their review of gene: WDR37: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 VPS4A Achchuthan Shanmugasundram commented on gene: VPS4A: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 UBR7 Achchuthan Shanmugasundram edited their review of gene: UBR7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 UBA2 Achchuthan Shanmugasundram edited their review of gene: UBA2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 TSEN15 Achchuthan Shanmugasundram edited their review of gene: TSEN15: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TRRAP Achchuthan Shanmugasundram edited their review of gene: TRRAP: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 TRIM71 Achchuthan Shanmugasundram edited their review of gene: TRIM71: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 TP73 Achchuthan Shanmugasundram edited their review of gene: TP73: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TOR1AIP1 Achchuthan Shanmugasundram edited their review of gene: TOR1AIP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TMTC3 Achchuthan Shanmugasundram edited their review of gene: TMTC3: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TMEM218 Achchuthan Shanmugasundram edited their review of gene: TMEM218: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TLL1 Achchuthan Shanmugasundram edited their review of gene: TLL1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER
Fetal anomalies v4.192 THOC2 Achchuthan Shanmugasundram commented on gene: THOC2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 STT3A Achchuthan Shanmugasundram edited their review of gene: STT3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.192 SPTB Achchuthan Shanmugasundram edited their review of gene: SPTB: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.192 SPINT2 Achchuthan Shanmugasundram edited their review of gene: SPINT2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SPEN Achchuthan Shanmugasundram edited their review of gene: SPEN: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SOX11 Achchuthan Shanmugasundram edited their review of gene: SOX11: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SMARCD1 Achchuthan Shanmugasundram edited their review of gene: SMARCD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SMAD2 Achchuthan Shanmugasundram edited their review of gene: SMAD2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SKIV2L Achchuthan Shanmugasundram edited their review of gene: SKIV2L: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SIN3A Achchuthan Shanmugasundram edited their review of gene: SIN3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SHMT2 Achchuthan Shanmugasundram edited their review of gene: SHMT2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SEMA3A Achchuthan Shanmugasundram edited their review of gene: SEMA3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SCN5A Achchuthan Shanmugasundram commented on gene: SCN5A: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 SCN3A Achchuthan Shanmugasundram edited their review of gene: SCN3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SCAF4 Achchuthan Shanmugasundram edited their review of gene: SCAF4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RPL15 Achchuthan Shanmugasundram edited their review of gene: RPL15: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RNU12 Achchuthan Shanmugasundram edited their review of gene: RNU12: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 RNF125 Achchuthan Shanmugasundram edited their review of gene: RNF125: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RNF113A Achchuthan Shanmugasundram edited their review of gene: RNF113A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 RLIM Achchuthan Shanmugasundram edited their review of gene: RLIM: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.192 RBP4 Achchuthan Shanmugasundram commented on gene: RBP4: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 RAD51 Achchuthan Shanmugasundram edited their review of gene: RAD51: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RAD50 Achchuthan Shanmugasundram edited their review of gene: RAD50: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PXDN Achchuthan Shanmugasundram edited their review of gene: PXDN: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PTPN23 Achchuthan Shanmugasundram edited their review of gene: PTPN23: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PRR12 Achchuthan Shanmugasundram edited their review of gene: PRR12: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PRF1 Achchuthan Shanmugasundram edited their review of gene: PRF1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PPP3CA Achchuthan Shanmugasundram edited their review of gene: PPP3CA: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PPP2R3C Achchuthan Shanmugasundram edited their review of gene: PPP2R3C: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PPP2CA Achchuthan Shanmugasundram edited their review of gene: PPP2CA: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PPIL1 Achchuthan Shanmugasundram edited their review of gene: PPIL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PLPBP Achchuthan Shanmugasundram edited their review of gene: PLPBP: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PLEC Achchuthan Shanmugasundram edited their review of gene: PLEC: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.192 PIGH Achchuthan Shanmugasundram edited their review of gene: PIGH: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PIDD1 Achchuthan Shanmugasundram edited their review of gene: PIDD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PHF21A Achchuthan Shanmugasundram edited their review of gene: PHF21A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PGAP1 Achchuthan Shanmugasundram edited their review of gene: PGAP1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PDE3A Achchuthan Shanmugasundram edited their review of gene: PDE3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PCDH12 Achchuthan Shanmugasundram edited their review of gene: PCDH12: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PAX1 Achchuthan Shanmugasundram edited their review of gene: PAX1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PACS2 Achchuthan Shanmugasundram edited their review of gene: PACS2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PACS1 Achchuthan Shanmugasundram edited their review of gene: PACS1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 OTUD6B Achchuthan Shanmugasundram edited their review of gene: OTUD6B: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 NUP188 Achchuthan Shanmugasundram edited their review of gene: NUP188: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 NSRP1 Achchuthan Shanmugasundram edited their review of gene: NSRP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 NONO Achchuthan Shanmugasundram edited their review of gene: NONO: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.192 NFIB Achchuthan Shanmugasundram edited their review of gene: NFIB: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 NFIA Achchuthan Shanmugasundram edited their review of gene: NFIA: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 MYOD1 Achchuthan Shanmugasundram edited their review of gene: MYOD1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MPDZ Achchuthan Shanmugasundram edited their review of gene: MPDZ: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MINPP1 Achchuthan Shanmugasundram edited their review of gene: MINPP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MED27 Achchuthan Shanmugasundram edited their review of gene: MED27: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MED25 Achchuthan Shanmugasundram edited their review of gene: MED25: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MCIDAS Achchuthan Shanmugasundram edited their review of gene: MCIDAS: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MAPKAPK5 Achchuthan Shanmugasundram edited their review of gene: MAPKAPK5: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MAN2C1 Achchuthan Shanmugasundram edited their review of gene: MAN2C1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MAB21L1 Achchuthan Shanmugasundram edited their review of gene: MAB21L1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 LTBP1 Achchuthan Shanmugasundram edited their review of gene: LTBP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 KIF4A Achchuthan Shanmugasundram edited their review of gene: KIF4A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 KIDINS220 Achchuthan Shanmugasundram edited their review of gene: KIDINS220: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 JAM3 Achchuthan Shanmugasundram edited their review of gene: JAM3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 IRX5 Achchuthan Shanmugasundram edited their review of gene: IRX5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 INTS1 Achchuthan Shanmugasundram edited their review of gene: INTS1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 IFT74 Achchuthan Shanmugasundram edited their review of gene: IFT74: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HYAL2 Achchuthan Shanmugasundram edited their review of gene: HYAL2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HSPA9 Achchuthan Shanmugasundram edited their review of gene: HSPA9: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HS2ST1 Achchuthan Shanmugasundram edited their review of gene: HS2ST1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HNRNPH2 Achchuthan Shanmugasundram edited their review of gene: HNRNPH2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.192 HMX1 Achchuthan Shanmugasundram edited their review of gene: HMX1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HK1 Achchuthan Shanmugasundram edited their review of gene: HK1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.192 HHAT Achchuthan Shanmugasundram edited their review of gene: HHAT: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 H3F3A Achchuthan Shanmugasundram edited their review of gene: H3F3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 GTPBP2 Achchuthan Shanmugasundram edited their review of gene: GTPBP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GRM7 Achchuthan Shanmugasundram edited their review of gene: GRM7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GPX4 Achchuthan Shanmugasundram commented on gene: GPX4: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 GHR Achchuthan Shanmugasundram edited their review of gene: GHR: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GFRA1 Achchuthan Shanmugasundram edited their review of gene: GFRA1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GDF11 Achchuthan Shanmugasundram edited their review of gene: GDF11: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 GATA1 Achchuthan Shanmugasundram edited their review of gene: GATA1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 FRA10AC1 Achchuthan Shanmugasundram edited their review of gene: FRA10AC1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 FOXJ1 Achchuthan Shanmugasundram edited their review of gene: FOXJ1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 FBRSL1 Achchuthan Shanmugasundram edited their review of gene: FBRSL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 FAT1 Achchuthan Shanmugasundram edited their review of gene: FAT1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 FAM149B1 Achchuthan Shanmugasundram edited their review of gene: FAM149B1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 EXOC7 Achchuthan Shanmugasundram edited their review of gene: EXOC7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ERGIC1 Achchuthan Shanmugasundram edited their review of gene: ERGIC1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ERBB3 Achchuthan Shanmugasundram edited their review of gene: ERBB3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 EN1 Achchuthan Shanmugasundram commented on gene: EN1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 EFEMP2 Achchuthan Shanmugasundram edited their review of gene: EFEMP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 EEF2 Achchuthan Shanmugasundram edited their review of gene: EEF2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DYNC1I2 Achchuthan Shanmugasundram edited their review of gene: DYNC1I2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 DYNC1I1 Achchuthan Shanmugasundram edited their review of gene: DYNC1I1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DPF2 Achchuthan Shanmugasundram edited their review of gene: DPF2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DLL1 Achchuthan Shanmugasundram edited their review of gene: DLL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DEPDC5 Achchuthan Shanmugasundram edited their review of gene: DEPDC5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 DCC Achchuthan Shanmugasundram commented on gene: DCC: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 CYBB Achchuthan Shanmugasundram commented on gene: CYBB: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 CTNNA2 Achchuthan Shanmugasundram commented on gene: CTNNA2: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 COA7 Achchuthan Shanmugasundram edited their review of gene: COA7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 CLTC Achchuthan Shanmugasundram edited their review of gene: CLTC: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 CFAP52 Achchuthan Shanmugasundram edited their review of gene: CFAP52: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 CFAP45 Achchuthan Shanmugasundram edited their review of gene: CFAP45: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 CEP85L Achchuthan Shanmugasundram edited their review of gene: CEP85L: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 CELSR1 Achchuthan Shanmugasundram edited their review of gene: CELSR1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER
Fetal anomalies v4.192 CCDC22 Achchuthan Shanmugasundram edited their review of gene: CCDC22: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 C2orf69 Achchuthan Shanmugasundram edited their review of gene: C2orf69: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 C12orf57 Achchuthan Shanmugasundram edited their review of gene: C12orf57: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 BRD4 Achchuthan Shanmugasundram edited their review of gene: BRD4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 BRCA1 Achchuthan Shanmugasundram edited their review of gene: BRCA1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ATN1 Achchuthan Shanmugasundram edited their review of gene: ATN1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ATAD1 Achchuthan Shanmugasundram edited their review of gene: ATAD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ARL3 Achchuthan Shanmugasundram edited their review of gene: ARL3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ARID2 Achchuthan Shanmugasundram edited their review of gene: ARID2: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 APC2 Achchuthan Shanmugasundram edited their review of gene: APC2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 AP4S1 Achchuthan Shanmugasundram edited their review of gene: AP4S1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 AP4B1 Achchuthan Shanmugasundram edited their review of gene: AP4B1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ANGPT2 Achchuthan Shanmugasundram commented on gene: ANGPT2: The rating of this gene has been updated to green and the mode of inheritance updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 ALPK3 Achchuthan Shanmugasundram edited their review of gene: ALPK3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ALG14 Achchuthan Shanmugasundram edited their review of gene: ALG14: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ALDH1A2 Achchuthan Shanmugasundram edited their review of gene: ALDH1A2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 AFF3 Achchuthan Shanmugasundram edited their review of gene: AFF3: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ADCY6 Achchuthan Shanmugasundram edited their review of gene: ADCY6: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ACVRL1 Achchuthan Shanmugasundram edited their review of gene: ACVRL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.191 THOC2 Achchuthan Shanmugasundram Source NHS GMS was added to THOC2.
Source Expert Review Green was added to THOC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.190 MYBBP1A Sarah Leigh Added comment: Comment on list classification: There is enough information for this gene to be green on this panel.
Fetal anomalies v4.189 MYBBP1A Sarah Leigh reviewed gene: MYBBP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-immune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.188 MYBBP1A Sarah Graham gene: MYBBP1A was added
gene: MYBBP1A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MYBBP1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBBP1A were set to 39191491; 28425981
Review for gene: MYBBP1A was set to GREEN
Added comment: Three fetuses have been reported with biallelic variants in MYBBP1A in association with oligohydramnios, cystic hygroma, pleural effusion, generalized hydrops, ascites, severe IUGR and skeletal anomalies (PMID 39191491;28425981).
Sources: Literature
Fetal anomalies v4.188 AIMP1 Natalie Bibb edited their review of gene: AIMP1: Changed publications to: 30486714, 32531460, 24958424, 33402283, 26173967, 21092922, 30477741; Set current diagnostic: yes
Fetal anomalies v4.186 TSHR Achchuthan Shanmugasundram Phenotypes for gene: TSHR were changed from HYPERTHYROIDISM, FAMILIAL GESTATIONAL; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; Hyperthyroidism, nonautoimmune, OMIM:609152; Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200 to Hyperthyroidism, nonautoimmune, OMIM:609152; Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200
Fetal anomalies v4.184 SLC5A5 Achchuthan Shanmugasundram Phenotypes for gene: SLC5A5 were changed from THYROID HORMONOGENESIS DEFECT I to Thyroid dyshormonogenesis 1, OMIM:274400
Fetal anomalies v4.180 DEAF1 Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; Vulto-van Silfout-de Vries syndrome, OMIM:615828; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171; Autism, intellectual disability, basal ganglia dysfunction and epilepsy to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171; Vulto-van Silfout-de Vries syndrome, OMIM:615828
Fetal anomalies v4.179 DDX6 Achchuthan Shanmugasundram Phenotypes for gene: DDX6 were changed from INTELLECTUAL DISABILITY; Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653 to Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653
Fetal anomalies v4.178 COL25A1 Achchuthan Shanmugasundram Phenotypes for gene: COL25A1 were changed from FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5; Arthrogryposis multiplex congenita, MONDO:0015168 to Arthrogryposis multiplex congenita, MONDO:0015168
Fetal anomalies v4.175 ATP6V1B2 Achchuthan Shanmugasundram Phenotypes for gene: ATP6V1B2 were changed from ZIMMERMANN-LABAND SYNDROME; Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480; Zimmermann-Laband syndrome 2, OMIM:616455 to Zimmermann-Laband syndrome 2, OMIM:616455; Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480
Fetal anomalies v4.173 ACSL4 Achchuthan Shanmugasundram Phenotypes for gene: ACSL4 were changed from Mental retardation, X-linked 63 , OMIM:300387; ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS; MENTAL RETARDATION X-LINKED TYPE 63 to Mental retardation, X-linked 63 , OMIM:300387
Fetal anomalies v4.170 YAP1 Achchuthan Shanmugasundram Phenotypes for gene: YAP1 were changed from Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433; COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433
Fetal anomalies v4.167 TRIO Achchuthan Shanmugasundram Phenotypes for gene: TRIO were changed from INTELLECTUAL DISABILITY; Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061 to Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061
Fetal anomalies v4.164 TBX22 Achchuthan Shanmugasundram Phenotypes for gene: TBX22 were changed from Abruzzo-Erickson syndrome, OMIM:302905; Cleft palate with ankyloglossia, OMIM:303400; ?Abruzzo-Erickson syndrome, 302905; CLEFT PALATE, X-LINKED to Abruzzo-Erickson syndrome, OMIM:302905; Cleft palate with ankyloglossia, OMIM:303400
Fetal anomalies v4.163 SNAP29 Achchuthan Shanmugasundram Phenotypes for gene: SNAP29 were changed from Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290 to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290
Fetal anomalies v4.160 SLC25A26 Achchuthan Shanmugasundram Phenotypes for gene: SLC25A26 were changed from INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY; Combined oxidative phosphorylation deficiency 28, OMIM:616794 to Combined oxidative phosphorylation deficiency 28, OMIM:616794
Fetal anomalies v4.155 RAB11B Achchuthan Shanmugasundram Phenotypes for gene: RAB11B were changed from INTELLECTUAL DISABILITY; Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807
Fetal anomalies v4.150 PLAA Achchuthan Shanmugasundram Phenotypes for gene: PLAA were changed from Lethal Infantile Epileptic Encephalopathy to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527
Fetal anomalies v4.148 NOVA2 Achchuthan Shanmugasundram Phenotypes for gene: NOVA2 were changed from Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859; Intellectual disability with ataxia/spasticity to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859
Fetal anomalies v4.147 NAA15 Achchuthan Shanmugasundram Phenotypes for gene: NAA15 were changed from CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER; Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787 to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787
Fetal anomalies v4.146 MYBPC3 Achchuthan Shanmugasundram Phenotypes for gene: MYBPC3 were changed from ?Congenital myopathy; Cardiomyopathy; Cardiomyopathy, hypertrophic, 4, OMIM:115197 to Cardiomyopathy, hypertrophic, 4, OMIM:115197
Fetal anomalies v4.145 MPZ Achchuthan Shanmugasundram Phenotypes for gene: MPZ were changed from Charcot-Marie-Tooth disease, type 2I 607677; Roussy-Levy syndrome 180800; Dejerine-Sottas disease 145900; Charcot-Marie-Tooth disease, dominant intermediate D 607791; Charcot-Marie-Tooth disease, type 1B 118200; Neuropathy, congenital hypomyelinating 605253; Hypomyelinating neuropathy, congenital, 2, OMIM:618184; Charcot-Marie-Tooth disease, type 2J 607736 to Hypomyelinating neuropathy, congenital, 2, OMIM:618184
Fetal anomalies v4.144 MITF Achchuthan Shanmugasundram Phenotypes for gene: MITF were changed from WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME; COMMAD syndrome, 617306; Tietz albinism-deafness syndrome, 103500; Waardenburg syndrome, type 2A, 193510; Waardenburg syndrome/ocular albinism, digenic, 103470 to COMMAD syndrome, OMIM:617306
Fetal anomalies v4.140 MED17 Achchuthan Shanmugasundram Phenotypes for gene: MED17 were changed from MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY to Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668
Fetal anomalies v4.132 GABRB2 Achchuthan Shanmugasundram Phenotypes for gene: GABRB2 were changed from Developmental and epileptic encephalopathy 92, OMIM:617829; Epilepsy and intellectual disability to Developmental and epileptic encephalopathy 92, OMIM:617829
Fetal anomalies v4.129 DOCK7 Achchuthan Shanmugasundram Phenotypes for gene: DOCK7 were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 to Developmental and epileptic encephalopathy 23, OMIM:615859
Fetal anomalies v4.127 DNAJC19 Achchuthan Shanmugasundram Phenotypes for gene: DNAJC19 were changed from 3-methylglutaconic aciduria, type V 610198 to 3-methylglutaconic aciduria, type V, OMIM:610198
Fetal anomalies v4.125 CTDP1 Achchuthan Shanmugasundram Phenotypes for gene: CTDP1 were changed from CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME to Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168
Fetal anomalies v4.119 CAPN15 Achchuthan Shanmugasundram Phenotypes for gene: CAPN15 were changed from microphthalmia HP:0000568; coloboma HP:0000589; Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318 to Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318; microphthalmia HP:0000568; coloboma HP:0000589
Fetal anomalies v4.117 CACNA1A Achchuthan Shanmugasundram Phenotypes for gene: CACNA1A were changed from Developmental and epileptic encephalopathy 42, OMIM:617106; EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 42, OMIM:617106
Fetal anomalies v4.116 ATP1A3 Achchuthan Shanmugasundram Phenotypes for gene: ATP1A3 were changed from Polymicrogyria; RAPID-ONSET DYSTONIA-PARKINSONISM; Developmental and epileptic encephalopathy 99, OMIM:619606; ALTERNATING HEMIPLEGIA OF CHILDHOOD to Developmental and epileptic encephalopathy 99, OMIM:619606; Polymicrogyria
Fetal anomalies v4.108 WWOX Achchuthan Shanmugasundram Phenotypes for gene: WWOX were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 to Developmental and epileptic encephalopathy 28, OMIM:616211
Fetal anomalies v4.106 VPS4A Achchuthan Shanmugasundram edited their review of gene: VPS4A: Changed phenotypes to: CIMDAG syndrome, MIM #619273
Fetal anomalies v4.104 TRRAP Achchuthan Shanmugasundram Phenotypes for gene: TRRAP were changed from multiple congenital anomalies; Developmental delay with or without dysmorphic facies and autism, OMIM:618454 to Developmental delay with or without dysmorphic facies and autism, OMIM:618454; multiple congenital anomalies
Fetal anomalies v4.103 TOR1AIP1 Achchuthan Shanmugasundram Phenotypes for gene: TOR1AIP1 were changed from congenital myasthenic syndrome; Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; congenital myasthenic syndrome
Fetal anomalies v4.100 THOC2 Achchuthan Shanmugasundram edited their review of gene: THOC2: Changed phenotypes to: Mental retardation, X-linked 12/35, MIM #300957
Fetal anomalies v4.100 THOC2 Achchuthan Shanmugasundram Phenotypes for gene: THOC2 were changed from MENTAL RETARDATION, X-LINKED 12 to Intellectual developmental disorder, X-linked 12, OMIM:300957
Fetal anomalies v4.99 THOC2 Achchuthan Shanmugasundram Publications for gene: THOC2 were set to
Fetal anomalies v4.98 THOC2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: THOC2.
Tag Q3_24_NHS_review tag was added to gene: THOC2.
Fetal anomalies v4.97 SOX11 Achchuthan Shanmugasundram Phenotypes for gene: SOX11 were changed from Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866; MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866
Fetal anomalies v4.93 SEMA3A Achchuthan Shanmugasundram Phenotypes for gene: SEMA3A were changed from {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease; skeletal anomalies to {Hypogonadotropic hypogonadism 16 with or without anosmia}, OMIM:614897; congenital heart disease; skeletal anomalies
Fetal anomalies v4.92 SEMA3A Achchuthan Shanmugasundram Phenotypes for gene: SEMA3A were changed from skeletal anomalies; {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease to {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease; skeletal anomalies
Fetal anomalies v4.91 SCN3A Achchuthan Shanmugasundram Phenotypes for gene: SCN3A were changed from Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development; Epileptic encephalopathy, early infantile, 62, OMIM:617938 to Epileptic encephalopathy, early infantile, 62, OMIM:617938; Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development
Fetal anomalies v4.90 SCN3A Achchuthan Shanmugasundram Phenotypes for gene: SCN3A were changed from Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Focal epilepsy; Malformations of cortical development; Epileptic encephalopathy, early infantile, 62, OMIM:617938 to Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development; Epileptic encephalopathy, early infantile, 62, OMIM:617938
Fetal anomalies v4.88 RBP4 Achchuthan Shanmugasundram edited their review of gene: RBP4: Changed phenotypes to: Microphthalmia, isolated, with coloboma 10, OMIM:616428
Fetal anomalies v4.86 PXDN Achchuthan Shanmugasundram Phenotypes for gene: PXDN were changed from CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA to Anterior segment dysgenesis 7, with sclerocornea, OMIM:269400
Fetal anomalies v4.84 PPP3CA Achchuthan Shanmugasundram Phenotypes for gene: PPP3CA were changed from Severe Neurodevelopmental Disease with Seizures; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265 to Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265
Fetal anomalies v4.81 PHF21A Achchuthan Shanmugasundram Phenotypes for gene: PHF21A were changed from POTOCKI-SHAFFER SYNDROME; Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725 to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725
Fetal anomalies v4.80 PGAP1 Achchuthan Shanmugasundram Phenotypes for gene: PGAP1 were changed from Intellectual disability, encephalopathy, impaired GPI-anchor maturation to Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, OMIM:615802
Fetal anomalies v4.76 OTUD6B Achchuthan Shanmugasundram Phenotypes for gene: OTUD6B were changed from Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM:617452
Fetal anomalies v4.75 NONO Achchuthan Shanmugasundram Phenotypes for gene: NONO were changed from Pulmonary stenosis; Left ventricular non-compaction cardiomyopathy (LVNC); Ebstein’s anomaly; Ventricular septal defect (VSD); Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967; Atresia to Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967
Fetal anomalies v4.74 MED27 Achchuthan Shanmugasundram Phenotypes for gene: MED27 were changed from Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286 to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, OMIM:619286
Fetal anomalies v4.73 MED25 Achchuthan Shanmugasundram Phenotypes for gene: MED25 were changed from Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; hypospadias, thin corpus callosum, cerebral ventricular dilatation; multiple congenital anomalies; congenital heart defects; Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449 to Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449
Fetal anomalies v4.71 KIDINS220 Achchuthan Shanmugasundram Phenotypes for gene: KIDINS220 were changed from Ventriculomegaly and arthrogryposis, OMIM:619501 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296; cerebral ventriculomegaly; limb contractures
Fetal anomalies v4.69 JAM3 Achchuthan Shanmugasundram Phenotypes for gene: JAM3 were changed from HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS to Haemorrhagic destruction of the brain, subependymal calcification, and cataracts, OMIM:613730
Fetal anomalies v4.67 IRX5 Achchuthan Shanmugasundram Phenotypes for gene: IRX5 were changed from HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY to Hamamy syndrome, OMIM:611174
Fetal anomalies v4.61 H3F3A Achchuthan Shanmugasundram Phenotypes for gene: H3F3A were changed from Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720; Craniofacial with neurodevelopment disorders to Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720
Fetal anomalies v4.58 GHR Achchuthan Shanmugasundram Phenotypes for gene: GHR were changed from Growth hormone insensitivity, partial, OMIM:604271; PITUITARY DWARFISM II; Laron dwarfism, OMIM:262500 to Growth hormone insensitivity, partial, OMIM:604271; Laron dwarfism, OMIM:262500
Fetal anomalies v4.55 EN1 Achchuthan Shanmugasundram edited their review of gene: EN1: Changed phenotypes to: ENDOVE syndrome, limb-brain type, OMIM:619218
Fetal anomalies v4.55 EN1 Achchuthan Shanmugasundram changed review comment from: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.53 DYNC1I2 Achchuthan Shanmugasundram Phenotypes for gene: DYNC1I2 were changed from Neurodevelopmental disorder with microcephaly and structural brain anomalies , OMIM:618492 to Neurodevelopmental disorder with microcephaly and structural brain anomalies, OMIM:618492
Fetal anomalies v4.52 DYNC1I2 Achchuthan Shanmugasundram Phenotypes for gene: DYNC1I2 were changed from Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492 to Neurodevelopmental disorder with microcephaly and structural brain anomalies , OMIM:618492
Fetal anomalies v4.50 DEPDC5 Achchuthan Shanmugasundram Phenotypes for gene: DEPDC5 were changed from Epilepsy; Structural brain malformations to Developmental and epileptic encephalopathy 111, OMIM:620504
Fetal anomalies v4.37 AFF3 Achchuthan Shanmugasundram Phenotypes for gene: AFF3 were changed from KINSSHIP syndrome, OMIM:619297; Skeletal dysplasia with severe neurological disease to KINSSHIP syndrome, OMIM:619297
Fetal anomalies v4.36 ZFPM2 Achchuthan Shanmugasundram commented on gene: ZFPM2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 VPS4A Achchuthan Shanmugasundram commented on gene: VPS4A: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 TRAPPC11 Achchuthan Shanmugasundram commented on gene: TRAPPC11: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 THOC2 Achchuthan Shanmugasundram commented on gene: THOC2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 STT3B Achchuthan Shanmugasundram commented on gene: STT3B: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 STIM1 Achchuthan Shanmugasundram commented on gene: STIM1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 SLC5A5 Achchuthan Shanmugasundram commented on gene: SLC5A5: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 SCN5A Achchuthan Shanmugasundram commented on gene: SCN5A: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 RBP4 Achchuthan Shanmugasundram commented on gene: RBP4: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 PLOD3 Achchuthan Shanmugasundram commented on gene: PLOD3: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 PDE6D Achchuthan Shanmugasundram commented on gene: PDE6D: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 NUP88 Achchuthan Shanmugasundram commented on gene: NUP88: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 NID1 Achchuthan Shanmugasundram commented on gene: NID1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 MYSM1 Achchuthan Shanmugasundram commented on gene: MYSM1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 MTX2 Achchuthan Shanmugasundram commented on gene: MTX2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 MBTPS1 Achchuthan Shanmugasundram commented on gene: MBTPS1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 LAGE3 Achchuthan Shanmugasundram commented on gene: LAGE3: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 KAT5 Achchuthan Shanmugasundram commented on gene: KAT5: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 HOXA2 Achchuthan Shanmugasundram commented on gene: HOXA2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 GPX4 Achchuthan Shanmugasundram commented on gene: GPX4: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 FBXW11 Achchuthan Shanmugasundram commented on gene: FBXW11: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 EN1 Achchuthan Shanmugasundram commented on gene: EN1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 DOCK7 Achchuthan Shanmugasundram commented on gene: DOCK7: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 DCC Achchuthan Shanmugasundram commented on gene: DCC: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 CYBB Achchuthan Shanmugasundram commented on gene: CYBB: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 CTNNA2 Achchuthan Shanmugasundram commented on gene: CTNNA2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 CITED2 Achchuthan Shanmugasundram commented on gene: CITED2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 BRF1 Achchuthan Shanmugasundram commented on gene: BRF1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 ASXL2 Achchuthan Shanmugasundram commented on gene: ASXL2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 ANGPT2 Achchuthan Shanmugasundram commented on gene: ANGPT2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 ADAMTS19 Achchuthan Shanmugasundram commented on gene: ADAMTS19: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.35 ZNHIT3 Lyn Chitty reviewed gene: ZNHIT3: Rating: RED; Mode of pathogenicity: ; Publications: 28335020, 31048081; Phenotypes: PEHO syndrome, OMIM:260565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ZNF699 Samantha Doyle reviewed gene: ZNF699: Rating: GREEN; Mode of pathogenicity: ; Publications: 33875846; Phenotypes: DEGCAGS syndrome, OMIM:619488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ZNF526 Natalie Canham reviewed gene: ZNF526: Rating: GREEN; Mode of pathogenicity: ; Publications: 33397746, 21937992, 25558065; Phenotypes: Dystonia, Hypertonia, Intellectual disability, Cataracts, Microcephaly, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ZNF462 Natalie Bibb reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: ; Publications: 28513610, 31361404; Phenotypes: Weiss-Kruszka syndrome, OMIM:618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ZNF335 Anna de Burca reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: ; Publications: 23178126, 34982360, 29652087, 27540107; Phenotypes: Microcephaly 10, primary, autosomal recessive, OMIM:615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ZMYM2 Esther Kinning reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32891193; Phenotypes: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ZMIZ1 Denise Williams reviewed gene: ZMIZ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30639322, 31879022; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, OMIM:618659; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ZFPM2 Achchuthan Shanmugasundram reviewed gene: ZFPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16103912, 10892744, 24702427, 21919901, 14517948, 17568391; Phenotypes: Tetralogy of Fallot, OMIM:187500, Diaphragmatic hernia 3, OMIM:610187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ZBTB24 Stephanie Allen reviewed gene: ZBTB24: Rating: AMBER; Mode of pathogenicity: ; Publications: 21596365, 21906047, 32061411, 29023266, 32865561, 22786748, 23739126, 28128455; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 2, OMIM:614069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 YRDC Samantha Doyle reviewed gene: YRDC: Rating: RED; Mode of pathogenicity: ; Publications: 31481669, 34545459; Phenotypes: Galloway-Mowat syndrome 10, OMIM:619609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 YIPF5 Lyn Chitty reviewed gene: YIPF5: Rating: RED; Mode of pathogenicity: ; Publications: 33164986; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 YIF1B Samantha Doyle reviewed gene: YIF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 26077767, 32006098; Phenotypes: Kaya-Barakat-Masson syndrome, OMIM:619125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 YAP1 Natalie Canham reviewed gene: YAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24462371, 28801591, 27267789; Phenotypes: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 WWOX Natalie Bibb reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 33916893; Phenotypes: Developmental and epileptic encephalopathy 28, OMIM:616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 WDR4 Esther Kinning reviewed gene: WDR4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28617965, 26416026; Phenotypes: Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618346; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 WDR37 Denise Williams reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: ; Publications: 31327508, 31327510; Phenotypes: Neurooculocardiogenitourinary syndrome, OMIM:618652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 VPS4A Achchuthan Shanmugasundram reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 33186543, 33186545; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 UNC13D Esther Kinning reviewed gene: UNC13D: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Familial Hemophagocytic Lymphohistiocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 UBR7 Stephanie Allen reviewed gene: UBR7: Rating: GREEN; Mode of pathogenicity: ; Publications: 33340455; Phenotypes: Li-Campeau syndrome, OMIM:619189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 UBA2 Samantha Doyle reviewed gene: UBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31332306, 31587267; Phenotypes: Split-Hand/Foot Malformation, Aplasia Cutis Congenita, Ectrodactyly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TUBGCP2 Lyn Chitty reviewed gene: TUBGCP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31630790; Phenotypes: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TTI2 Samantha Doyle reviewed gene: TTI2: Rating: RED; Mode of pathogenicity: ; Publications: 32061250, 31737043, 23956177; Phenotypes: Mental retardation, autosomal recessive 39, OMIM:615541, Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TSHR Natalie Canham reviewed gene: TSHR: Rating: RED; Mode of pathogenicity: ; Publications: 18655531, 15163335, 23295291, 9360555, 7800007; Phenotypes: Hyperthyroidism, nonautoimmune, OMIM:609152, Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TSEN15 Natalie Bibb reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: ; Publications: 30914295, 25558065, 27392077; Phenotypes: Pontocerebellar hypoplasia, type 2F, OMIM:617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TRRAP Anna de Burca reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 30827496; Phenotypes: multiple congenital anomalies, Developmental delay with or without dysmorphic facies and autism, OMIM:618454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TRNT1 Denise Williams reviewed gene: TRNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29055896, 33082562; Phenotypes: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM:616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TRIO Esther Kinning reviewed gene: TRIO: Rating: AMBER; Mode of pathogenicity: ; Publications: 32109419, 26721934; Phenotypes: Mental retardation, autosomal dominant 44, OMIM:617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TRIM71 Denise Williams reviewed gene: TRIM71: Rating: GREEN; Mode of pathogenicity: ; Publications: 32168371, 29983323, 30975633; Phenotypes: Hydrocephalus, congenital communicating, 1, OMIM:618667; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TRAPPC11 Achchuthan Shanmugasundram reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: ; Publications: 27862579, 23830518, 26322222, 29855340, 30105108, 27707803, 26912795, 28484880; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TPO Stephanie Allen reviewed gene: TPO: Rating: RED; Mode of pathogenicity: ; Publications: 30662777, 34220711; Phenotypes: Thyroid dyshormonogenesis 2A, OMIM:274500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TP73 Samantha Doyle reviewed gene: TP73: Rating: GREEN; Mode of pathogenicity: ; Publications: 34077761, 31130284; Phenotypes: Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TOR1AIP1 Lyn Chitty reviewed gene: TOR1AIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27342937, 24856141, 30723199, 32055997, 33215087, 31299614; Phenotypes: congenital myasthenic syndrome, Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TOP2B Samantha Doyle reviewed gene: TOP2B: Rating: RED; Mode of pathogenicity: ; Publications: 31409799; Phenotypes: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, OMIM:609296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TNFRSF11A Natalie Canham reviewed gene: TNFRSF11A: Rating: AMBER; Mode of pathogenicity: ; Publications: 18606301, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 7, OMIM:612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TMTC3 Natalie Bibb reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27773428, 28973161; Phenotypes: Lissencephaly 8, OMIM:617255; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TMEM218 Anna de Burca reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: ; Publications: 25161209, 33791682; Phenotypes: Joubert syndrome 39, OMIM:619562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TLL1 Esther Kinning reviewed gene: TLL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 18830233, 31570783, 27418595, 30538173; Phenotypes: congenital heart disease, Atrial septal defect 6, OMIM:613087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TLK2 Denise Williams reviewed gene: TLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34821460, 31558842, 29861108; Phenotypes: Intellectual developmental disorder, autosomal dominant 57, OMIM:618050; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.35 THOC2 Achchuthan Shanmugasundram reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32116545, 26166480, 32960281, 29851191; Phenotypes: Mental retardation, X-linked 12/35 MIM#300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 TG Stephanie Allen reviewed gene: TG: Rating: RED; Mode of pathogenicity: ; Publications: 28620499, 19169491, 18631008, 33832185, 12915634; Phenotypes: Thyroid dyshormonogenesis 3, OMIM:274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TBX22 Samantha Doyle reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: ; Publications: 22784330, 14729838, 17868388, 11559848, 12374769; Phenotypes: Abruzzo-Erickson syndrome, OMIM:302905, Cleft palate with ankyloglossia, OMIM:303400; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 TBC1D1 Lyn Chitty reviewed gene: TBC1D1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26572137; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TAOK1 Samantha Doyle reviewed gene: TAOK1: Rating: RED; Mode of pathogenicity: ; Publications: 31230721, 35091509, 33565190; Phenotypes: Developmental delay with or without intellectual impairment or behavioral abnormalities, OMIM:619575; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SZT2 Natalie Canham reviewed gene: SZT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32402703, 30560016, 30359774, 28556953, 23932106; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM:615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SYT2 Natalie Bibb reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30533528, 25192047, 32250532, 32776697; Phenotypes: Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, OMIM:619461, Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 STT3B Achchuthan Shanmugasundram reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Congenital disorder of glycosylation, type Ix, OMIM:615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 STT3A Esther Kinning reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28424003, 30701557, 34653363, 23842455; Phenotypes: Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596, Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 STK4 Denise Williams reviewed gene: STK4: Rating: RED; Mode of pathogenicity: ; Publications: 22294732, 26117625, 22174160, 22952854; Phenotypes: T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, OMIM:614868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 STIM1 Achchuthan Shanmugasundram reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20876309, 31448844; Phenotypes: Myopathy, tubular aggregate, OMIM:160565, Immunodeficiency 10, OMIM:612783, Stormorken syndrome, OMIM:185070; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 STAT3 Stephanie Allen reviewed gene: STAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 31771449, 34366294, 30617622; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952, Hyper-IgE recurrent infection syndrome, OMIM:147060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SPTB Stephanie Allen reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 33761640, 33082562, 35819869; Phenotypes: Hereditary spherocytosis/elliptocytosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 SPTA1 Samantha Doyle reviewed gene: SPTA1: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Hereditary spherocytosis/elliptocytosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 SPRED2 Samantha Doyle reviewed gene: SPRED2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34626534, 36394128; Phenotypes: Noonan syndrome 14, OMIM:619745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SPINT2 Lyn Chitty reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19185281, 24142340, 30445423, 20009592, 33374714, 33029133, 33547739; Phenotypes: congenital secretory sodium diarrhea 3, MONDO:0010036, Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SPEN Samantha Doyle reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 33596411; Phenotypes: Radio-Tartaglia syndrome, OMIM:619312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SOX11 Natalie Canham reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: ; Publications: 33785884, 24886874, 31530938, 33086258, 33430815; Phenotypes: Coffin-Siris syndrome 9, OMIM:615866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SNAP29 Natalie Bibb reviewed gene: SNAP29: Rating: AMBER; Mode of pathogenicity: ; Publications: 28388629, 15968592, 29051910, 21073448, 30793783; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528, CEDNIK syndrome, MONDO:0012290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SMARCD1 Natalie Chandler reviewed gene: SMARCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30879640; Phenotypes: Coffin-Siris syndrome 11, OMIM:618779; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SMARCAL1 Anna de Burca reviewed gene: SMARCAL1: Rating: RED; Mode of pathogenicity: ; Publications: 20301550, 20036229, 17089404, 15523612; Phenotypes: Schimke immunoosseous dysplasia, OMIM:242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SMAD6 Esther Kinning reviewed gene: SMAD6: Rating: RED; Mode of pathogenicity: ; Publications: 22275001, 31138930, 32499606, 27606499; Phenotypes: {Craniosynostosis 7, susceptibility to}, OMIM:617439, Aortic valve disease 2, OMIM:614823, {Radioulnar synostosis, nonsyndromic}, OMIM:179300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SMAD2 Denise Williams reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30157302, 29967133, 23665959; Phenotypes: Loeys-Dietz syndrome 6, OMIM:619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, OMIM:619657; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SLC5A5 Achchuthan Shanmugasundram reviewed gene: SLC5A5: Rating: RED; Mode of pathogenicity: ; Publications: 32805706, 34726525, 34806438, 33815280, 31115276; Phenotypes: Thyroid dyshormonogenesis 1, OMIM:274400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SLC4A1 Lyn Chitty reviewed gene: SLC4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 24652967; Phenotypes: Ovalocytosis, SA type, OMIM:166900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 SLC25A26 Anna de Burca reviewed gene: SLC25A26: Rating: AMBER; Mode of pathogenicity: ; Publications: 26522469, 33082562; Phenotypes: Combined oxidative phosphorylation deficiency 28, OMIM:616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SLC22A5 Natalie Canham reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Primary carnitine deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SLC20A1 Stephanie Allen reviewed gene: SLC20A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32850778, 27013921; Phenotypes: Bladder-Exstrophy-Epispadias Complex (BEEC); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SKIV2L Samantha Doyle reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: ; Publications: 22444670, 27431780; Phenotypes: Trichohepatoenteric syndrome 2, OMIM:614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SIN3A Lyn Chitty reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27399968; Phenotypes: Witteveen-Kolk syndrome, OMIM:613406; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SHMT2 Natalie Chandler reviewed gene: SHMT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33015733; Phenotypes: Polymicrogyria, corpus callosum anomalies, Microcephaly, Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SF3B2 Natalie Canham reviewed gene: SF3B2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34344887, 37555391; Phenotypes: Craniofacial microsomia, OMIM:164210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SERPINA11 Natalie Bibb reviewed gene: SERPINA11: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: SERPINA11-prenatal lethal disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SEMA3A Natalie Bibb reviewed gene: SEMA3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301509, 22927827, 24124006, 33369061, 21059704, 28075028; Phenotypes: skeletal anomalies, {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897, congenital heart disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SCNN1G Anna de Burca reviewed gene: SCNN1G: Rating: RED; Mode of pathogenicity: ; Publications: 31522814, 11231969, 8640238, 7633160; Phenotypes: Pseudohypoaldosteronism, type IB3, autosomal recessive, OMIM:620126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SCNN1B Esther Kinning reviewed gene: SCNN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 8589714; Phenotypes: Pseudohypoaldosteronism, type I, OMIM:264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SCNN1A Denise Williams reviewed gene: SCNN1A: Rating: RED; Mode of pathogenicity: ; Publications: 8589714, 31301676; Phenotypes: Pseudohypoaldosteronism, type I, OMIM:264350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 SCN5A Achchuthan Shanmugasundram reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 19419784, 22064211, 15184283; Phenotypes: Sudden infant death syndrome, susceptibility to - #272120, Long QT syndrome 3 - #603830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SCN3A Stephanie Allen reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29740860, 32515017, 30146301; Phenotypes: Epileptic encephalopathy, early infantile, 62, OMIM:617938, Epilepsy, familial focal, with variable foci 4, OMIM:617935, Intellectual disability, Malformations of cortical development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SCAF4 Natalie Chandler reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 32730804; Phenotypes: Neurodevelopmental disorder MONDO#0700092, SCAF4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RPL15 Lyn Chitty reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: 23812780, 20301769, 29599205; Phenotypes: Diamond-Blackfan anemia 12, OMIM:615550, multiple congenital malformations, hydrops; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RNU12 Natalie Chandler reviewed gene: RNU12: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085356; Phenotypes: Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations, CDAGS syndrome, OMIM:603116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 RNF125 Natalie Canham reviewed gene: RNF125: Rating: GREEN; Mode of pathogenicity: ; Publications: 25196541; Phenotypes: Tenorio syndrome, OMIM:616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RNF113A Natalie Bibb reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25612912, 31793730, 31880405; Phenotypes: Trichothiodystrophy 5, nonphotosensitive, OMIM:300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 RLIM Anna de Burca reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: ; Publications: 29728705, 25735484, 25644381; Phenotypes: Tonne-Kalscheuer syndrome, OMIM:300978; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 RIN2 Esther Kinning reviewed gene: RIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 20954239, 30769224, 20424861, 24449201, 19631308; Phenotypes: Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 RHOA Esther Kinning reviewed gene: RHOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RHEB Denise Williams reviewed gene: RHEB: Rating: RED; Mode of pathogenicity: ; Publications: 29051493, 31337748; Phenotypes: Macrocephaly, Intellectual disability, Focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RBP4 Achchuthan Shanmugasundram reviewed gene: RBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29178648, 25910211; Phenotypes: Microphthalmia, isolated, with coloboma 10 MIM#616428; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RAP1B Stephanie Allen reviewed gene: RAP1B: Rating: RED; Mode of pathogenicity: ; Publications: 26280580, 32627184; Phenotypes: Syndromic intellectual disability, short stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RAD51C Natalie Chandler reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: 29278735, 20400963; Phenotypes: Fanconi anemia, complementation group O, OMIM:613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 RAD51 Lyn Chitty reviewed gene: RAD51: Rating: GREEN; Mode of pathogenicity: ; Publications: 26681308, 30907510, 26253028; Phenotypes: Fanconi anaemia, complementation group R, OMIM:617244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RAD50 Natalie Chandler reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: ; Publications: 33378670, 32212377, 19409520; Phenotypes: MONDO:0013118, Nijmegen breakage syndrome-like disorder, OMIM:613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 RAB11B Natalie Canham reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: ; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 QARS Natalie Bibb reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 24656866, 25432320, 25041233, 32042906, 25471517, 28620870; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PXDN Anna de Burca reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 31817535, 24939590, 32224865, 21907015, 32015378, 32499604; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, OMIM:269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PTPN23 Esther Kinning reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: ; Publications: 29899372, 29090338, 25558065, 31395947, 27848944; Phenotypes: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PRR12 Denise Williams reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: ; Publications: 29556724, 33314030; Phenotypes: Neuroocular syndrome, OMIM:619539, Complex microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PRF1 Natalie Chandler reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19595804, 26199792, 30070073; Phenotypes: Aplastic anaemia, OMIM:609135, Haemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PPP3CA Anna de Burca reviewed gene: PPP3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28942967, 33082562, 29432562; Phenotypes: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PPP2R3C Lyn Chitty reviewed gene: PPP2R3C: Rating: GREEN; Mode of pathogenicity: ; Publications: 30893644, 34714774, 34750818; Phenotypes: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM:618419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PPP2CA Natalie Chandler reviewed gene: PPP2CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 30595372; Phenotypes: Neurodevelopmental disorder and language delay with or without structural brain abnormalities, OMIM:618354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PPP1R13L Natalie Canham reviewed gene: PPP1R13L: Rating: RED; Mode of pathogenicity: ; Publications: 32666529, 28864777; Phenotypes: Dilated cardiomyopathy, onset in infancy, Cleft lip and palate; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PPP1R12A Natalie Bibb reviewed gene: PPP1R12A: Rating: RED; Mode of pathogenicity: ; Publications: 31883643; Phenotypes: holoprosencephaly, disorder of sex development, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PPIL1 Anna de Burca reviewed gene: PPIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33220177; Phenotypes: Pontocerebellar hypoplasia, type 14, OMIM:619301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 POLD1 Esther Kinning reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23770608; Phenotypes: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PLPBP Denise Williams reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 31741821, 30668673, 27912044; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, OMIM:617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PLOD3 Achchuthan Shanmugasundram reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: 18834968, 30237576; Phenotypes: Lysyl hydroxylase 3 deficiency, OMIM:612394, Stickler-syndrome like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PLEC Stephanie Allen reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 28824526, 31509265, 22144912, 21263134, 21109228, 20624679; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723, Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950, Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138, Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 PLAA Lyn Chitty reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: 28413018, 28007986, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PKP2 Esther Kinning reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Severe cardiomyopathy with left ventricular noncompaction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PIGH Natalie Chandler reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: ; Publications: 29603516, 29573052, 33156547, 35445667; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 17, OMIM:618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PIDD1 Natalie Canham reviewed gene: PIDD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33414379, 28397838, 34163010, 29302074; Phenotypes: Global developmental delay, Seizures, Behavioral abnormality, Abnormality of the corpus callosum, Autism, Intellectual disability, Lissencephaly, Pachygyria, Psychosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PI4KA Natalie Bibb reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: ; Publications: 34415310; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PHF21A Anna de Burca reviewed gene: PHF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: 31649809, 30487643, 22770980; Phenotypes: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 618725; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PHEX Esther Kinning reviewed gene: PHEX: Rating: AMBER; Mode of pathogenicity: ; Publications: 9106524, 16055933, 19219621, 29791829; Phenotypes: Hypophosphatemic rickets, X-linked dominant, OMIM:307800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 PGAP1 Denise Williams reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24482476, 25823418, 25804403, 26050939, 24784135; Phenotypes: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, OMIM:615802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PDE6D Achchuthan Shanmugasundram reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: ; Publications: 30423442, 24166846; Phenotypes: Joubert syndrome 22, OMIM:615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PDE3A Stephanie Allen reviewed gene: PDE3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25961942; Phenotypes: Hypertension and brachydactyly syndrome, OMIM:112410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PCDH12 Natalie Chandler reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: ; Publications: 30178464, 27164683; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PAX1 Natalie Chandler reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23851939, 29681087, 32111619; Phenotypes: Otofaciocervical syndrome 2, OMIM:615560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PARP6 Lyn Chitty reviewed gene: PARP6: Rating: AMBER; Mode of pathogenicity: ; Publications: 34067418; Phenotypes: Microcephaly, Intellectual disability, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PAM16 Natalie Chandler reviewed gene: PAM16: Rating: AMBER; Mode of pathogenicity: ; Publications: 27354339, 24786642; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM:613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PACS2 Natalie Canham reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29656858, 34894068, 34859793; Phenotypes: Developmental and epileptic encephalopathy 66, OMIM:618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PACS1 Natalie Bibb reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30712880, 32672908, 23159249, 26842493; Phenotypes: Schuurs-Hoeijmakers syndrome, OMIM:615009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 OTUD6B Anna de Burca reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 31147255, 32924626, 28343629; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 OTUD5 Esther Kinning reviewed gene: OTUD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 33523931, 33131077; Phenotypes: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 ORAI1 Denise Williams reviewed gene: ORAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: 31448844; Phenotypes: Myopathy, tubular aggregate, 2, OMIM:615883; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 NUP88 Achchuthan Shanmugasundram reviewed gene: NUP88: Rating: AMBER; Mode of pathogenicity: ; Publications: 30543681; Phenotypes: Fetal akinesia deformation sequence 4, OMIM:618393, Fetal akinesia deformation sequence 4, MONDO:0100104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NUP188 Stephanie Allen reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: ; Publications: 28726809, 32021605, 32275884; Phenotypes: microcephaly, ID, Sandestig-Stefanova syndrome, OMIM:618804, structural brain abnormalities, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NSRP1 Natalie Chandler reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34385670; Phenotypes: Intellectual disability, Neurodevelopmental disorder, MONDO:0700092, NSRP1-related, Cerebral palsy, microcephaly, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NSD2 Lyn Chitty reviewed gene: NSD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31171569, 30345613; Phenotypes: Rauch-Steindl syndrome, OMIM:619695; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NPRL3 Natalie Chandler reviewed gene: NPRL3: Rating: RED; Mode of pathogenicity: ; Publications: 27173016, 33461085, 35136953, 26285051; Phenotypes: Epilepsy, familial focal, with variable foci 3, OMIM:617118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NPRL2 Natalie Canham reviewed gene: NPRL2: Rating: RED; Mode of pathogenicity: ; Publications: 29281825, 31625153, 22268191, 27173016, 33461085; Phenotypes: Epilepsy, familial focal, with variable foci 2, OMIM:617116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NPL Denise Williams reviewed gene: NPL: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Sialic aciduria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NOVA2 Natalie Bibb reviewed gene: NOVA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32197073; Phenotypes: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NONO Anna de Burca reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: ; Publications: 27550220, 27329731, 32397791, 26571461; Phenotypes: Ebstein s anomaly, Pulmonary stenosis, Left ventricular non-compaction cardiomyopathy (LVNC), Mental retardation, X-linked, syndromic 34, MIM# 300967, Ventricular septal defect (VSD); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 NLRP3 Esther Kinning reviewed gene: NLRP3: Rating: RED; Mode of pathogenicity: ; Publications: 12928894, 12483741, 12032915; Phenotypes: CINCA syndrome, OMIM:607115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NKX2-6 Denise Williams reviewed gene: NKX2-6: Rating: RED; Mode of pathogenicity: ; Publications: 32198970, 15649947, 24421281, 25319568, 25380965; Phenotypes: Persistent truncus arteriosus, OMIM:217095, Conotruncal heart malformations, OMIM:217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NID1 Achchuthan Shanmugasundram reviewed gene: NID1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30773799, 12480912, 25558065, 23674478; Phenotypes: Hydrocephalus with or without seizures, Dandy-Walker malformation and occipital cephalocele; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NFIB Stephanie Allen reviewed gene: NFIB: Rating: GREEN; Mode of pathogenicity: ; Publications: 30388402, 32902921, 33130023; Phenotypes: Macrocephaly, acquired, with impaired intellectual development, OMIM:618286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NFIA Natalie Chandler reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: ; Publications: 32926563, 35018717, 36553517, 33973697; Phenotypes: Brain malformations with or without urinary tract defects, OMIM:613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NEXN Lyn Chitty reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: 33949776, 33947203, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Cardiomyopathy, dilated 1CC, OMIM:613122, Hydrops fetalis; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.35 NCAPD2 Natalie Chandler reviewed gene: NCAPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27737959, 28097321, 31056748; Phenotypes: Microcephaly 21, primary, autosomal recessive, OMIM:617983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NAA15 Natalie Canham reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: ; Publications: 31127942, 33557580; Phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 MYSM1 Achchuthan Shanmugasundram reviewed gene: MYSM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Bone marrow failure syndrome 4, OMIM:618116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MYOD1 Natalie Bibb reviewed gene: MYOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30403323, 26733463, 31260566; Phenotypes: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MYBPC3 Esther Kinning reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 19858127, 16679492, 17937428; Phenotypes: Cardiomyopathy, hypertrophic, 4, OMIM:115197, Neonatal hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MVK Denise Williams reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: 27012807, 16722536; Phenotypes: Hyper-IgD syndrome, OMIM:260920, Mevalonic aciduria, OMIM:610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MTX2 Achchuthan Shanmugasundram reviewed gene: MTX2: Rating: RED; Mode of pathogenicity: ; Publications: 32917887; Phenotypes: Mandibuloacral dysplasia progeroid syndrome, OMIM:619127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MT-TL1 Stephanie Allen reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Mitochondrial tRNA deficiency; Mode of inheritance: MITOCHONDRIAL
Fetal anomalies v4.35 MT-TE Natalie Chandler reviewed gene: MT-TE: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 17161635; Phenotypes: Mitochondrial tRNA deficiency; Mode of inheritance: MITOCHONDRIAL
Fetal anomalies v4.35 MPZ Stephanie Allen reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomyelinating neuropathy, congenital, 2, OMIM:618184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 MPDZ Natalie Chandler reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 29499638, 30518636, 23240096, 28556411; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MNS1 Lyn Chitty reviewed gene: MNS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30148830, 31534215; Phenotypes: Heterotaxy, male infertility, Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MITF Natalie Chandler reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: ; Publications: 32541011, 27889061; Phenotypes: COMMAD syndrome, OMIM:617306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MINPP1 Natalie Canham reviewed gene: MINPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33168985, 33257696; Phenotypes: Pontocerebellar hypoplasia, type 16, OMIM:619527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MGAT2 Lyn Chitty reviewed gene: MGAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: MGAT2-CDG; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MED27 Natalie Bibb reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: ; Publications: 33443317; Phenotypes: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MED25 Anna de Burca reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: ; Publications: 32324310, 25792360, 32816121; Phenotypes: Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643, hypospadias, thin corpus callosum, cerebral ventricular dilatation, multiple congenital anomalies, congenital heart defects, Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MED17 Esther Kinning reviewed gene: MED17: Rating: AMBER; Mode of pathogenicity: ; Publications: 33756211, 30345598; Phenotypes: Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MCIDAS Denise Williams reviewed gene: MCIDAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 25048963, 32802948, 30237576; Phenotypes: Hydrocephalus, Ciliary dyskinesia, primary, 42, OMIM:618695, Choroid plexus hyperplasia, Arachnoid cyst; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MBTPS1 Achchuthan Shanmugasundram reviewed gene: MBTPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32857899, 32420688, 30046013; Phenotypes: Skeletal dysplasia, no OMIM #; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MAST1 Stephanie Allen reviewed gene: MAST1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32818970, 32198973, 31721002, 30449657; Phenotypes: cerebellar hypoplasia, corpus callosum anomalies, cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:61827; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 MAPKAPK5 Natalie Chandler reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: ; Publications: 35575217, 33442026; Phenotypes: Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MAPK8IP3 Lyn Chitty reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: ; Publications: 30945334, 30612693; Phenotypes: cerebral atrophy, Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443, corpus callosum anomalies, polymicrogyria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v4.35 MAPK1 Natalie Chandler reviewed gene: MAPK1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32721402; Phenotypes: Noonan syndrome 13, OMIM:619087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 MAP1B Natalie Canham reviewed gene: MAP1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 33772511, 30150678, 31317654, 30214071; Phenotypes: Polymicrogyria, Periventricular nodular heterotopia 9, OMIM:618918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 MAN2C1 Natalie Bibb reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35045343; Phenotypes: Congenital disorder of deglycosylation 2, MIM# 619775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MAMLD1 Anna de Burca reviewed gene: MAMLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26815876, 31555317, 32690052; Phenotypes: Hypospadias 2, OMIM:300758; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 MAB21L1 Esther Kinning reviewed gene: MAB21L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30487245; Phenotypes: Cerebellar, ocular, craniofacial, and genital syndrome OMIM:618479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 LTBP1 Denise Williams reviewed gene: LTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33991472; Phenotypes: Cutis laxa, autosomal recessive, type IIE, OMIM:619451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 LAGE3 Achchuthan Shanmugasundram reviewed gene: LAGE3: Rating: AMBER; Mode of pathogenicity: ; Publications: 31069511, 28805828; Phenotypes: Galloway-Mowat syndrome 2, X-linked, OMIM:301006; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 KIF4A Stephanie Allen reviewed gene: KIF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 34346154, 30679815, 24812067; Phenotypes: Hydrocephalus, Intellectual developmental disorder, X-linked 100, OMIM:300923; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 KIF21B Natalie Chandler reviewed gene: KIF21B: Rating: AMBER; Mode of pathogenicity: ; Publications: 32415109; Phenotypes: Global developmental delay, Neurodevelopmental disorder, MONDO:0700092, Intellectual disability, Abnormality of brain morphology, Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 KIDINS220 Lyn Chitty reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: 32909676, 33205811, 22048169, 28934391; Phenotypes: cerebral ventriculomegaly, spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007, Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296, limb contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 KIAA0825 Natalie Chandler reviewed gene: KIAA0825: Rating: AMBER; Mode of pathogenicity: ; Publications: 30982135, 32147526, 33776623; Phenotypes: Polydactyly, postaxial, type A10, OMIM:618498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 KIAA0556 Natalie Canham reviewed gene: KIAA0556: Rating: RED; Mode of pathogenicity: ; Publications: 27245168, 26714646; Phenotypes: Joubert syndrome 26, OMIM:616784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 KDM1A Natalie Bibb reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 27094131, 24838796, 26656649; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 KCNQ1 Anna de Burca reviewed gene: KCNQ1: Rating: RED; Mode of pathogenicity: ; Publications: 27539165; Phenotypes: Long QT syndrome 1, OMIM:192500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v4.35 KCNJ8 Esther Kinning reviewed gene: KCNJ8: Rating: AMBER; Mode of pathogenicity: ; Publications: 24176758, 25275207, 24700710; Phenotypes: Cantu syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 KCNH1 Denise Williams reviewed gene: KCNH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33811134; Phenotypes: Zimmermann-Laband syndrome 1, OMIM:135500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 KAT5 Achchuthan Shanmugasundram reviewed gene: KAT5: Rating: AMBER; Mode of pathogenicity: ; Publications: 32822602; Phenotypes: Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM:619103; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 JAM3 Stephanie Allen reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23255084, 21109224; Phenotypes: Haemorrhagic destruction of the brain, subependymal calcification, and cataracts, OMIM:613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ITPR1 Samantha Doyle reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Spinocerebellar ataxia 29, congenital nonprogressive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 IRX5 Natalie Chandler reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 22581230, 34899143, 29168297; Phenotypes: Hamamy syndrome, OMIM:611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 IQCE Lyn Chitty reviewed gene: IQCE: Rating: AMBER; Mode of pathogenicity: ; Publications: 28488682, 31549751; Phenotypes: Polydactyly, postaxial, type A7 OMIM:617642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 INTS1 Natalie Chandler reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28542170, 31428919, 30622326; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 IKZF1 Natalie Canham reviewed gene: IKZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Immunodeficiency, common variable, 13, OMIM:616873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 IFT74 Natalie Canham reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: ; Publications: 32144365, 27486776, 33531668; Phenotypes: Bardet-Biedl syndrome 22, OMIM:617119, Joubert syndrome 40, OMIM:619582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 IFT27 Natalie Bibb reviewed gene: IFT27: Rating: AMBER; Mode of pathogenicity: ; Publications: 25443296, 24488770, 26763875, 30761183; Phenotypes: Bardet-Biedl syndrome 19, OMIM:615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HYAL2 Anna de Burca reviewed gene: HYAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23172227, 28081210, 26515055, 34906488; Phenotypes: congenital cardiac malformations, Cleft lip and palate, cor triatriatum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HSPA9 Esther Kinning reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: 26598328, 26491070, 32869452; Phenotypes: Anemia, sideroblastic, 4, OMIM:182170, Even-plus syndrome, OMIM:616854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HS2ST1 Denise Williams reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33159882; Phenotypes: arthrogryposis, Neurofacioskeletal syndrome with or without renal agenesis, OMIM:619194, multiple congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HOXA2 Achchuthan Shanmugasundram reviewed gene: HOXA2: Rating: RED; Mode of pathogenicity: ; Publications: 32649979, 27503514, 28109504, 18394579, 23775976, 31567444; Phenotypes: Microtia with or without hearing impairment (AD), OMIM:612290; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 HNRNPH2 Stephanie Allen reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31236915, 30887513, 34907471, 31670473, 33728377; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Bain type, OMIM:300986; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 HMX1 Natalie Chandler reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25574057, 18423520; Phenotypes: Oculoauricular syndrome, OMIM:612109; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HMGB1 Lyn Chitty reviewed gene: HMGB1: Rating: RED; Mode of pathogenicity: ; Publications: 34164801; Phenotypes: Neurodevelopmental disorder MONDO:0700092, HMGB1-related, intellectual disability, microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 HK1 Natalie Bibb reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Hexokinase deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.35 HIST1H4C Natalie Chandler reviewed gene: HIST1H4C: Rating: AMBER; Mode of pathogenicity: ; Publications: 28920961, 35202563; Phenotypes: Growth delay, microcephaly and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 HHAT Natalie Canham reviewed gene: HHAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 33749989, 30912300, 24784881; Phenotypes: Nivelon-Nivelon-Mabille syndrome, OMIM:600092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HERC1 Natalie Bibb reviewed gene: HERC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28323226, 26138117, 27108999, 26153217; Phenotypes: Macrocephaly, dysmorphic facies, and psychomotor retardation, OMIM:617011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 H3F3A Anna de Burca reviewed gene: H3F3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 33268356; Phenotypes: Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 GTPBP2 Esther Kinning reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29449720, 30790272, 26675814; Phenotypes: Jaberi-Elahi syndrome, OMIM:617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GRM7 Denise Williams reviewed gene: GRM7: Rating: GREEN; Mode of pathogenicity: ; Publications: 32286009, 32248644; Phenotypes: Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GPX4 Achchuthan Shanmugasundram reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GLMN Anna de Burca reviewed gene: GLMN: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 23801931; Phenotypes: Plaque-Type Glomuvenous Malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 GHR Stephanie Allen reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: ; Publications: 9360502; Phenotypes: Growth hormone insensitivity, partial, OMIM:604271, Laron dwarfism, OMIM:262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GFRA1 Natalie Chandler reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36292572, 34737117, 33020172; Phenotypes: Renal agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GDF11 Lyn Chitty reviewed gene: GDF11: Rating: GREEN; Mode of pathogenicity: ; Publications: 31215115, 34113007; Phenotypes: ?Vertebral hypersegmentation and orofacial anomalies, OMIM:619122; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 GATA5 Esther Kinning reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: congenital heart defects and genital anomalies, Congenital heart defects, multiple types, 5, Hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GATA1 Natalie Chandler reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10700180, 30914438, 29949202; Phenotypes: Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 GABRB2 Natalie Canham reviewed gene: GABRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33325057, 27789573, 29100083; Phenotypes: Developmental and epileptic encephalopathy 92, OMIM:617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 G6PD Denise Williams reviewed gene: G6PD: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Glucose-6-phosphate dehydrogenase deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 FRMPD4 Natalie Bibb reviewed gene: FRMPD4: Rating: RED; Mode of pathogenicity: ; Publications: 25644381, 29267967; Phenotypes: Intellectual Disability, X-linked 104, OMIM:300983; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 FRA10AC1 Anna de Burca reviewed gene: FRA10AC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34694367; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 FOXJ1 Esther Kinning reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31630787; Phenotypes: Ciliary dyskinesia, primary, 43, OMIM:618699; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 FGF9 Denise Williams reviewed gene: FGF9: Rating: AMBER; Mode of pathogenicity: ; Publications: 33174625, 19589401, 28730625, 33140402, 19219044; Phenotypes: Multiple synostoses syndrome 3, OMIM:612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 FBXW11 Achchuthan Shanmugasundram reviewed gene: FBXW11: Rating: AMBER; Mode of pathogenicity: ; Publications: 31402090; Phenotypes: Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 FBRSL1 Stephanie Allen reviewed gene: FBRSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32424618, 34805182; Phenotypes: congenital heart defect, Congenital malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 FAT1 Natalie Chandler reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34013115, 33418956, 34202629, 26905694, 32902815, 30862798; Phenotypes: hand and foot anomalies, nephropathy, ocular anomalies, multiple congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 FAM149B1 Lyn Chitty reviewed gene: FAM149B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30905400; Phenotypes: Joubert syndrome 36, OMIM:618763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EXOSC9 Natalie Chandler reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: ; Publications: 30690203, 33040083, 29727687; Phenotypes: Pontocerebellar hypoplasia, type 1D, OMIM:618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EXOSC8 Natalie Canham reviewed gene: EXOSC8: Rating: AMBER; Mode of pathogenicity: ; Publications: 24989451, 34210538; Phenotypes: Pontocerebellar hypoplasia, type 1C, OMIM:616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EXOSC5 Natalie Bibb reviewed gene: EXOSC5: Rating: AMBER; Mode of pathogenicity: ; Publications: 32504085, 29302074; Phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, OMIM:619576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EXOC7 Anna de Burca reviewed gene: EXOC7: Rating: GREEN; Mode of pathogenicity: ; Publications: 32103185; Phenotypes: Neurodevelopmental disorder with seizures and brain atrophy, OMIM:619072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ERGIC1 Esther Kinning reviewed gene: ERGIC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31230720, 28317099, 34037256; Phenotypes: Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ERBB3 Denise Williams reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17701904, 31752936, 33720042; Phenotypes: Lethal congenital contractural syndrome 2, OMIM:607598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EN1 Achchuthan Shanmugasundram reviewed gene: EN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33568816; Phenotypes: ENDOVE syndrome, limb-brain type - OMIM#619218; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EMC1 Stephanie Allen reviewed gene: EMC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29271071, 26942288; Phenotypes: Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EIF3F Natalie Chandler reviewed gene: EIF3F: Rating: AMBER; Mode of pathogenicity: ; Publications: 33736665; Phenotypes: Intellectual developmental disorder, autosomal recessive 67, OMIM:618295; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EFEMP2 Lyn Chitty reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19664000, 23532871, 31548410, 30140196; Phenotypes: Cutis laxa, autosomal recessive, type IB, OMIM:614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EEF2 Natalie Chandler reviewed gene: EEF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33355653; Phenotypes: hydrocephalus, Neurodevelopmental disorder, macrocephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 EDN3 Natalie Canham reviewed gene: EDN3: Rating: AMBER; Mode of pathogenicity: ; Publications: 9359047, 27370713, 11303518, 10231870, 8630502, 30171849; Phenotypes: Central hypoventilation syndrome, congenital, OMIM:209880, Waardenburg syndrome, type 4B, OMIM:613265, {Hirschsprung disease, susceptibility to, 4}, OMIM:613712; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 DYNC1I2 Natalie Bibb reviewed gene: DYNC1I2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079899; Phenotypes: Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DYNC1I1 Anna de Burca reviewed gene: DYNC1I1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32219838, 25231166, 22914741; Phenotypes: Split-hand/split-foot malformation (SHFM); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 DPH1 Esther Kinning reviewed gene: DPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32732226, 30877278, 29362492, 25558065; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DPF2 Denise Williams reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29429572, 31706665; Phenotypes: Coffin-Siris syndrome 7, OMIM:618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 DOCK7 Achchuthan Shanmugasundram reviewed gene: DOCK7: Rating: AMBER; Mode of pathogenicity: ; Publications: 30807358, 24814191, 30771731; Phenotypes: Developmental and epileptic encephalopathy 23, OMIM:615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DNAJC19 Stephanie Allen reviewed gene: DNAJC19: Rating: AMBER; Mode of pathogenicity: ; Publications: 17244376, 22797137, 16055927; Phenotypes: 3-methylglutaconic aciduria, type V, OMIM:610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DLL1 Natalie Chandler reviewed gene: DLL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31353024; Phenotypes: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 DICER1 Lyn Chitty reviewed gene: DICER1: Rating: RED; Mode of pathogenicity: ; Publications: 35114704, 29343557, 33208384, 31232238, 27960159, 24676357, 26227654; Phenotypes: GLOW syndrome, somatic mosaic, OMIM:618272, Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors , OMIM:138800, Pleuropulmonary blastoma, OMIM:601200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 DEPDC5 Natalie Chandler reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 36067010, 32848577; Phenotypes: Epilepsy, familial focal, with variable foci 1 MIM#604364 biallelic only; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DEAF1 Natalie Canham reviewed gene: DEAF1: Rating: RED; Mode of pathogenicity: ; Publications: 28940898, 30923367, 26048982, 24726472, 26834045; Phenotypes: Vulto-van Silfout-de Vries syndrome, OMIM:615828, Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DDX6 Natalie Bibb reviewed gene: DDX6: Rating: RED; Mode of pathogenicity: ; Publications: 31422817; Phenotypes: Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 DCC Anna de Burca reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 28250454, 28250456, 20431009, 21242494, 31697046; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600, Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 D2HGDH Esther Kinning reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: D-2-hydroxyglutaric aciduria, OMIM:600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CYBB Achchuthan Shanmugasundram reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: ; Publications: 16795136, 33082562; Phenotypes: X-linked Chronic granulomatous disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 CWF19L1 Denise Williams reviewed gene: CWF19L1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27016154; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, OMIM:616127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CTNNA2 Achchuthan Shanmugasundram reviewed gene: CTNNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30013181; Phenotypes: Cortical dysplasia, complex, with other brain malformations 9, MIM#618174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CTDP1 Stephanie Allen reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20301787, 14517542, 24690360, 29174527, 25529582; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CPAMD8 Natalie Chandler reviewed gene: CPAMD8: Rating: AMBER; Mode of pathogenicity: ; Publications: 32274568; Phenotypes: Anterior segment dysgenesis 8, OMIM: 617319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 COLGALT1 Lyn Chitty reviewed gene: COLGALT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 31759980, 30412317, 33709034; Phenotypes: Brain small vessel disease 3, OMIM:618360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 COL9A3 Natalie Chandler reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: ; Publications: 15551337, 31090205, 25381065, 24273071, 33570243, 30450842; Phenotypes: Stickler syndrome, type VI, OMIM:620022, Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 COL27A1 Natalie Canham reviewed gene: COL27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24986830, 28276056, 28322503; Phenotypes: Steel syndrome, OMIM:615155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 COL25A1 Natalie Bibb reviewed gene: COL25A1: Rating: RED; Mode of pathogenicity: ; Publications: 26437029, 35077597; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 COA7 Natalie Chandler reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 27683825, 29718187; Phenotypes: the cerebellum and brainstem were spared but the spinal cord was thin with no obvious focal lesions, Brain and spinal cord MRI showed mild extension of signal abnormalities and extensive cavitations in the cerebral white matter; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CLTC Anna de Burca reviewed gene: CLTC: Rating: GREEN; Mode of pathogenicity: ; Publications: 33743358, 26822784, 31776469, 34230591, 29100083; Phenotypes: Mental retardation, autosomal dominant 56, MIM# 617854; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 CLMP Esther Kinning reviewed gene: CLMP: Rating: RED; Mode of pathogenicity: ; Publications: 22155368; Phenotypes: Congenital short bowel syndrome, OMIM:615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CLCNKB Denise Williams reviewed gene: CLCNKB: Rating: AMBER; Mode of pathogenicity: ; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 3, OMIM:607364, Bartter syndrome, type 4b, digenic, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CITED2 Achchuthan Shanmugasundram reviewed gene: CITED2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16287139, 29536580, 33706167, 31515672, 11694877, 33439552; Phenotypes: Atrial septal defect 8, OMIM:614433, Ventricular septal defect 2, OMIM:614431, Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 CFAP52 Stephanie Allen reviewed gene: CFAP52: Rating: GREEN; Mode of pathogenicity: ; Publications: 33139725, 25469542; Phenotypes: Heterotaxy, visceral, 10, autosomal, with male infertility, OMIM:619607; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CFAP45 Natalie Chandler reviewed gene: CFAP45: Rating: GREEN; Mode of pathogenicity: ; Publications: 33139725; Phenotypes: Heterotaxy, visceral, 11, autosomal, with male infertility, OMIM:619608; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CEP85L Lyn Chitty reviewed gene: CEP85L: Rating: GREEN; Mode of pathogenicity: ; Publications: 32097630; Phenotypes: Lissencephaly 10, posterior predominant, OMIM:618873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 CELSR1 Natalie Chandler reviewed gene: CELSR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26855770, 31215153, 31403174; Phenotypes: Lymphatic malformation 9, OMIM:619319; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 CCDC22 Natalie Canham reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: ; Publications: 24916641, 21826058, 34020006, 31971710, 33059814; Phenotypes: Ritscher-Schinzel syndrome 2, OMIM:300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 CAPN15 Natalie Bibb reviewed gene: CAPN15: Rating: AMBER; Mode of pathogenicity: ; Publications: 32885237; Phenotypes: microphthalmia HP:0000568, coloboma HP:0000589, Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CALCRL Stephanie Allen reviewed gene: CALCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 30115739, 16537897; Phenotypes: Lymphatic Malformation 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CACNA1D Anna de Burca reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: ; Publications: 28472301, 25620733, 31921405; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 CACNA1A Natalie Chandler reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 27476654; Phenotypes: Developmental and epileptic encephalopathy 42, OMIM:617106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 C2orf69 Esther Kinning reviewed gene: C2orf69: Rating: GREEN; Mode of pathogenicity: ; Publications: 33945503, 34038740; Phenotypes: Combined oxidative phosphorylation deficiency 53, OMIM:619423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 C12orf57 Denise Williams reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: ; Publications: 31853307, 29383837; Phenotypes: Temtamy syndrome, OMIM:218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 BRF1 Achchuthan Shanmugasundram reviewed gene: BRF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27748960, 25561519; Phenotypes: Cerebellofaciodental syndrome, OMIM:616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 BRD4 Stephanie Allen reviewed gene: BRD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 34035299, 30302754, 29379197, 11997514; Phenotypes: Cornelia de Lange syndrome, MONDO:0016033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 BRCA1 Natalie Chandler reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29712865, 29133208, 34680915; Phenotypes: Fanconi anaemia, complementation group S, OMIM:617883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 BCAS3 Lyn Chitty reviewed gene: BCAS3: Rating: AMBER; Mode of pathogenicity: ; Publications: 34022130; Phenotypes: Hengel-Maroofian-Schols syndrome, OMIM:619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 B9D1 Natalie Chandler reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: ; Publications: 34338422, 25920555, 32622957, 21763481, 21493627, 24886560; Phenotypes: Joubert syndrome 27, MONDO:0014927, Joubert syndrome 27, OMIM:617120, Meckel syndrome 9, OMIM:614209, Meckel syndrome 9, MONDO:0013630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AUTS2 Natalie Canham reviewed gene: AUTS2: Rating: RED; Mode of pathogenicity: ; Publications: 23332918, 25205402, 31474318; Phenotypes: Intellectual developmental disorder, autosomal dominant 26, OMIM:615834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ATP6V1B2 Natalie Bibb reviewed gene: ATP6V1B2: Rating: RED; Mode of pathogenicity: ; Publications: 28396750, 24913193, 25915598; Phenotypes: Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480, Zimmermann-Laband syndrome 2, OMIM:616455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ATP1A3 Anna de Burca reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: 33880529, 33762331; Phenotypes: Polymicrogyria, Developmental and epileptic encephalopathy 99, OMIM:619606; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ATP11C Samantha Doyle reviewed gene: ATP11C: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: X-linked hemolytic anemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 ATN1 Esther Kinning reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30827498, 34212383; Phenotypes: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ATAD1 Denise Williams reviewed gene: ATAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29390050, 29659736, 28180185; Phenotypes: Hyperekplexia 4, OMIM:618011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ASXL2 Achchuthan Shanmugasundram reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, OMIM:617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ARL3 Stephanie Allen reviewed gene: ARL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30269812, 16565502; Phenotypes: Joubert syndrome 35, OMIM:618161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ARID2 Natalie Chandler reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28884947, 26238514, 35813374, 30838730, 28124119, 29698805; Phenotypes: Coffin-Siris syndrome 6, OMIM:617808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ARF1 Lyn Chitty reviewed gene: ARF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28868155, 34353862; Phenotypes: Periventricular nodular heterotopia 8, OMIM:618185; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 APC2 Natalie Chandler reviewed gene: APC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31585108; Phenotypes: Cortical dysplasia, complex, with other brain malformations 10, OMIM:618677; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AP4S1 Natalie Canham reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30283821, 25552650, 31915823, 27444738, 32216065, 21620353, 32979048; Phenotypes: Spastic paraplegia 52, autosomal recessive, OMIM:614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AP4M1 Natalie Bibb reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29096665, 21937992, 19559397, 28464862, 31915823, 25496299, 32979048; Phenotypes: Spastic paraplegia 50, autosomal recessive, OMIM:612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AP4B1 Anna de Burca reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24781758, 24700674, 32166732, 31525725, 32171285, 22290197, 21620353, 32979048; Phenotypes: Hereditary spastic paraplegia 47, MONDO:0013551, Spastic paraplegia 47, autosomal recessive, OMIM:614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ANKRD17 Esther Kinning reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: ; Publications: 33909992; Phenotypes: multiple congenital malformations, Chopra-Amiel-Gordon syndrome, OMIM:619504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ANKLE2 Denise Williams reviewed gene: ANKLE2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31735666, 25259927, 30214071; Phenotypes: Microcephaly 16, primary, autosomal recessive, OMIM:616681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ANGPT2 Achchuthan Shanmugasundram reviewed gene: ANGPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32908006, 34876502; Phenotypes: Hydrops fetalis, MONDO:0015193, Lymphatic malformation-10, MIM#619369; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.35 AMBRA1 Stephanie Allen reviewed gene: AMBRA1: Rating: RED; Mode of pathogenicity: ; Publications: 32333458, 17589504; Phenotypes: Neural tube defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ALPK3 Natalie Chandler reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26846950, 28630369; Phenotypes: Cardiomyopathy, familial hypertrophic 27, OMIM:618052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ALG14 Lyn Chitty reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: ; Publications: 34971077, 23404334, 28733338, 30221345; Phenotypes: ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227, Myopathy, epilepsy, and progressive cerebral atrophy, OMIM:619036; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ALDH1A2 Natalie Chandler reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33565183, 36263470; Phenotypes: Multiple congenital anomalies, ALDH1A2-related, MONDO:0019042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ALB Natalie Canham reviewed gene: ALB: Rating: RED; Mode of pathogenicity: ; Publications: 31057599, 15300429, 23730173; Phenotypes: Analbuminemia, OMIM:616000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AIMP1 Natalie Bibb reviewed gene: AIMP1: Rating: RED; Mode of pathogenicity: ; Publications: 32531460, 33402283, 21092922, 24958424, 30477741, 30486714, 26173967; Phenotypes: Leukodystrophy, hypomyelinating, 3, OMIM:260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AGT Anna de Burca reviewed gene: AGT: Rating: AMBER; Mode of pathogenicity: ; Publications: 33163725, 34234805, 16116425; Phenotypes: Renal tubular dysgenesis, OMIM:267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AFF3 Esther Kinning reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, OMIM:619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ADCY6 Denise Williams reviewed gene: ADCY6: Rating: GREEN; Mode of pathogenicity: ; Publications: 33820833, 26257172, 24319099, 31846058; Phenotypes: Lethal congenital contracture syndrome 8, OMIM:616287, MONDO:0014570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ADAMTS19 Achchuthan Shanmugasundram reviewed gene: ADAMTS19: Rating: AMBER; Mode of pathogenicity: ; Publications: 31844321, 32323311; Phenotypes: Heart valve disorder, MONDO:0002869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ACVRL1 Stephanie Allen reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21988128, 26126400, 32170914; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ACVR1 Natalie Chandler reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 16642017, 29089047; Phenotypes: Fibrodysplasia ossificans progressiva, OMIM:135100, Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ACSL4 Lyn Chitty reviewed gene: ACSL4: Rating: RED; Mode of pathogenicity: ; Publications: 12525535; Phenotypes: Mental retardation, X-linked 63 , OMIM:300387; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 ABHD16A Natalie Chandler reviewed gene: ABHD16A: Rating: AMBER; Mode of pathogenicity: ; Publications: 34866177, 34489854, 34587489; Phenotypes: Spastic paraplegia 86, autosomal recessive, OMIM:619735; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AARS Natalie Canham reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 25817015, 28493438; Phenotypes: Developmental and epileptic encephalopathy 29, OMIM:616339, Developmental and epileptic encephalopathy, 29, MONDO:0014593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.34 ZMIZ1 Achchuthan Shanmugasundram gene: ZMIZ1 was added
gene: ZMIZ1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMIZ1 were set to 30639322; 31879022
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, OMIM:618659
Fetal anomalies v4.34 YAP1 Achchuthan Shanmugasundram Source NHS GMS was added to YAP1.
Mode of inheritance for gene YAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433 for gene: YAP1
Publications for gene: YAP1 were updated from to 24462371; 28801591; 27267789
Fetal anomalies v4.34 WDR4 Achchuthan Shanmugasundram gene: WDR4 was added
gene: WDR4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: WDR4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR4 were set to 28617965; 26416026
Phenotypes for gene: WDR4 were set to Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618346
Fetal anomalies v4.34 TUBGCP2 Achchuthan Shanmugasundram gene: TUBGCP2 was added
gene: TUBGCP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
Fetal anomalies v4.34 TSHR Achchuthan Shanmugasundram Source NHS GMS was added to TSHR.
Mode of inheritance for gene TSHR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hyperthyroidism, nonautoimmune, OMIM:609152; Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200 for gene: TSHR
Publications for gene: TSHR were updated from to 18655531; 15163335; 23295291; 9360555; 7800007
Fetal anomalies v4.34 TRRAP Achchuthan Shanmugasundram gene: TRRAP was added
gene: TRRAP was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRRAP were set to 30827496
Phenotypes for gene: TRRAP were set to multiple congenital anomalies; Developmental delay with or without dysmorphic facies and autism, OMIM:618454
Fetal anomalies v4.34 TRNT1 Achchuthan Shanmugasundram gene: TRNT1 was added
gene: TRNT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRNT1 were set to 29055896; 33082562
Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM:616084
Fetal anomalies v4.34 TRIO Achchuthan Shanmugasundram Source NHS GMS was added to TRIO.
Mode of inheritance for gene TRIO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061 for gene: TRIO
Publications for gene: TRIO were updated from to 32109419; 26721934
Fetal anomalies v4.34 TPO Achchuthan Shanmugasundram gene: TPO was added
gene: TPO was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPO were set to 30662777; 34220711
Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A, OMIM:274500
Fetal anomalies v4.34 TOR1AIP1 Achchuthan Shanmugasundram gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 27342937; 24856141; 30723199; 32055997; 33215087; 31299614
Phenotypes for gene: TOR1AIP1 were set to congenital myasthenic syndrome; Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
Fetal anomalies v4.34 TLK2 Achchuthan Shanmugasundram gene: TLK2 was added
gene: TLK2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TLK2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TLK2 were set to 34821460; 31558842; 29861108
Phenotypes for gene: TLK2 were set to Intellectual developmental disorder, autosomal dominant 57, OMIM:618050
Fetal anomalies v4.34 TG Achchuthan Shanmugasundram gene: TG was added
gene: TG was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TG were set to 28620499; 19169491; 18631008; 33832185; 12915634
Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3, OMIM:274700
Fetal anomalies v4.34 TBX22 Achchuthan Shanmugasundram Source NHS GMS was added to TBX22.
Mode of inheritance for gene TBX22 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Abruzzo-Erickson syndrome, OMIM:302905; Cleft palate with ankyloglossia, OMIM:303400 for gene: TBX22
Publications for gene: TBX22 were updated from 22784330 to 22784330; 14729838; 17868388; 11559848; 12374769
Fetal anomalies v4.34 TAOK1 Achchuthan Shanmugasundram gene: TAOK1 was added
gene: TAOK1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAOK1 were set to 31230721; 35091509; 33565190
Phenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities, OMIM:619575
Fetal anomalies v4.34 SYT2 Achchuthan Shanmugasundram gene: SYT2 was added
gene: SYT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SYT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SYT2 were set to 30533528; 25192047; 32250532; 32776697
Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, OMIM:619461; Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040
Fetal anomalies v4.34 STT3A Achchuthan Shanmugasundram gene: STT3A was added
gene: STT3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STT3A were set to 28424003; 30701557; 34653363; 23842455
Phenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714
Fetal anomalies v4.34 STIM1 Achchuthan Shanmugasundram gene: STIM1 was added
gene: STIM1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: STIM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STIM1 were set to 20876309; 31448844
Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, OMIM:160565; Immunodeficiency 10, OMIM:612783; Stormorken syndrome, OMIM:185070
Fetal anomalies v4.34 SPTB Achchuthan Shanmugasundram gene: SPTB was added
gene: SPTB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPTB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTB were set to 33761640; 33082562; 35819869
Phenotypes for gene: SPTB were set to Elliptocytosis-3, OMIM:617948; Anemia, neonatal hemolytic, fatal or near-fatal, OMIM:617948; Spherocytosis, type 2, OMIM:616649
Fetal anomalies v4.34 SPTA1 Achchuthan Shanmugasundram Source NHS GMS was added to SPTA1.
Source Expert Review Red was added to SPTA1.
Mode of inheritance for gene SPTA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Elliptocytosis-2, OMIM:130600; Spherocytosis, type 3, OMIM:270970 for gene: SPTA1
Publications for gene: SPTA1 were updated from 31333484; 34132406 to 31333484; 33082562; 34132406
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 SOX11 Achchuthan Shanmugasundram Source NHS GMS was added to SOX11.
Mode of inheritance for gene SOX11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866 for gene: SOX11
Publications for gene: SOX11 were updated from to 33785884; 24886874; 31530938; 33086258; 33430815
Fetal anomalies v4.34 SMAD2 Achchuthan Shanmugasundram gene: SMAD2 was added
gene: SMAD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD2 were set to 30157302; 29967133; 23665959
Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome 6, OMIM:619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, OMIM:619657
Fetal anomalies v4.34 SHMT2 Achchuthan Shanmugasundram gene: SHMT2 was added
gene: SHMT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHMT2 were set to 33015733
Phenotypes for gene: SHMT2 were set to Polymicrogyria; corpus callosum anomalies; Microcephaly; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121
Fetal anomalies v4.34 SERPINA11 Achchuthan Shanmugasundram Source NHS GMS was added to SERPINA11.
Source Expert Review Red was added to SERPINA11.
Added phenotypes SERPINA11-prenatal lethal disorder for gene: SERPINA11
Publications for gene: SERPINA11 were updated from 28749478; 31742715 to 33082562; 31742715; 28749478
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 SEMA3A Achchuthan Shanmugasundram gene: SEMA3A was added
gene: SEMA3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SEMA3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEMA3A were set to 20301509; 22927827; 24124006; 33369061; 21059704; 28075028
Phenotypes for gene: SEMA3A were set to skeletal anomalies; {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease
Fetal anomalies v4.34 SCNN1A Achchuthan Shanmugasundram gene: SCNN1A was added
gene: SCNN1A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SCNN1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1A were set to 8589714; 31301676
Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I, OMIM:264350
Fetal anomalies v4.34 SCN5A Achchuthan Shanmugasundram gene: SCN5A was added
gene: SCN5A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN5A were set to 19419784; 22064211; 15184283
Phenotypes for gene: SCN5A were set to {Sudden infant death syndrome, susceptibility to}, OMIM:272120; Long QT syndrome 3, OMIM:603830
Fetal anomalies v4.34 SCN3A Achchuthan Shanmugasundram Source NHS GMS was added to SCN3A.
Mode of inheritance for gene SCN3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Epileptic encephalopathy, early infantile, 62, OMIM:617938; Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development for gene: SCN3A
Publications for gene: SCN3A were updated from to 29740860; 32515017; 30146301
Fetal anomalies v4.34 RNU12 Achchuthan Shanmugasundram gene: RNU12 was added
gene: RNU12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU12 were set to 34085356
Phenotypes for gene: RNU12 were set to Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations; CDAGS syndrome, OMIM:603116
Fetal anomalies v4.34 RNF113A Achchuthan Shanmugasundram gene: RNF113A was added
gene: RNF113A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RNF113A were set to 25612912; 31793730; 31880405
Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive, OMIM:300953
Fetal anomalies v4.34 RLIM Achchuthan Shanmugasundram Source NHS GMS was added to RLIM.
Mode of inheritance for gene RLIM was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Tonne-Kalscheuer syndrome, OMIM:300978 for gene: RLIM
Publications for gene: RLIM were updated from to 29728705; 25735484; 25644381
Fetal anomalies v4.34 RHOA Achchuthan Shanmugasundram gene: RHOA was added
gene: RHOA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RHOA were set to Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727
Fetal anomalies v4.34 RBP4 Achchuthan Shanmugasundram gene: RBP4 was added
gene: RBP4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RBP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBP4 were set to 29178648; 25910211
Phenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10, OMIM:616428
Fetal anomalies v4.34 RAP1B Achchuthan Shanmugasundram gene: RAP1B was added
gene: RAP1B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAP1B were set to 26280580; 32627184
Phenotypes for gene: RAP1B were set to Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654
Fetal anomalies v4.34 RAB11B Achchuthan Shanmugasundram Source NHS GMS was added to RAB11B.
Mode of inheritance for gene RAB11B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 for gene: RAB11B
Publications for gene: RAB11B were updated from to 29106825
Fetal anomalies v4.34 PTPN23 Achchuthan Shanmugasundram gene: PTPN23 was added
gene: PTPN23 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN23 were set to 29899372; 29090338; 25558065; 31395947; 27848944
Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890
Fetal anomalies v4.34 PRR12 Achchuthan Shanmugasundram gene: PRR12 was added
gene: PRR12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRR12 were set to 29556724; 33314030
Phenotypes for gene: PRR12 were set to Neuroocular syndrome, OMIM:619539; Complex microphthalmia
Fetal anomalies v4.34 PPP3CA Achchuthan Shanmugasundram Source NHS GMS was added to PPP3CA.
Mode of inheritance for gene PPP3CA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265 for gene: PPP3CA
Publications for gene: PPP3CA were updated from to 28942967; 33082562; 29432562
Fetal anomalies v4.34 PPP2R3C Achchuthan Shanmugasundram gene: PPP2R3C was added
gene: PPP2R3C was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PPP2R3C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP2R3C were set to 30893644; 34714774; 34750818
Phenotypes for gene: PPP2R3C were set to Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM:618419
Fetal anomalies v4.34 PPP2CA Achchuthan Shanmugasundram gene: PPP2CA was added
gene: PPP2CA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities, OMIM:618354
Fetal anomalies v4.34 PPP1R13L Achchuthan Shanmugasundram gene: PPP1R13L was added
gene: PPP1R13L was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 32666529; 28864777
Phenotypes for gene: PPP1R13L were set to Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519
Fetal anomalies v4.34 PLEC Achchuthan Shanmugasundram gene: PLEC was added
gene: PLEC was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PLEC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLEC were set to 28824526; 31509265; 22144912; 21263134; 21109228; 20624679
Phenotypes for gene: PLEC were set to Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723; Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950; Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138; Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670
Fetal anomalies v4.34 PKP2 Achchuthan Shanmugasundram gene: PKP2 was added
gene: PKP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PKP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKP2 were set to 33082562
Phenotypes for gene: PKP2 were set to Severe cardiomyopathy with left ventricular noncompaction
Fetal anomalies v4.34 PIGH Achchuthan Shanmugasundram gene: PIGH was added
gene: PIGH was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGH were set to 29603516; 29573052; 33156547; 35445667
Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, OMIM:618010
Fetal anomalies v4.34 PIDD1 Achchuthan Shanmugasundram gene: PIDD1 was added
gene: PIDD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIDD1 were set to 33414379; 28397838; 34163010; 29302074
Phenotypes for gene: PIDD1 were set to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, OMIM:619827
Fetal anomalies v4.34 PI4KA Achchuthan Shanmugasundram gene: PI4KA was added
gene: PI4KA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 34415310
Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Fetal anomalies v4.34 PHF21A Achchuthan Shanmugasundram Source NHS GMS was added to PHF21A.
Mode of inheritance for gene PHF21A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725 for gene: PHF21A
Publications for gene: PHF21A were updated from to 31649809; 30487643; 22770980
Fetal anomalies v4.34 PHEX Achchuthan Shanmugasundram gene: PHEX was added
gene: PHEX was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PHEX 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: PHEX were set to 9106524; 16055933; 19219621; 29791829
Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant, OMIM:307800
Fetal anomalies v4.34 PACS2 Achchuthan Shanmugasundram gene: PACS2 was added
gene: PACS2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PACS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PACS2 were set to 29656858; 34894068; 34859793
Phenotypes for gene: PACS2 were set to Developmental and epileptic encephalopathy 66, OMIM:618067
Fetal anomalies v4.34 ORAI1 Achchuthan Shanmugasundram gene: ORAI1 was added
gene: ORAI1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ORAI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ORAI1 were set to 31448844
Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2, OMIM:615883
Fetal anomalies v4.34 NSRP1 Achchuthan Shanmugasundram gene: NSRP1 was added
gene: NSRP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSRP1 were set to 34385670
Phenotypes for gene: NSRP1 were set to Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities, OMIM:620001
Fetal anomalies v4.34 NPRL3 Achchuthan Shanmugasundram gene: NPRL3 was added
gene: NPRL3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPRL3 were set to 27173016; 33461085; 35136953; 26285051
Phenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3, OMIM:617118
Fetal anomalies v4.34 NPRL2 Achchuthan Shanmugasundram gene: NPRL2 was added
gene: NPRL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPRL2 were set to 29281825; 31625153; 22268191; 27173016; 33461085
Phenotypes for gene: NPRL2 were set to Epilepsy, familial focal, with variable foci 2, OMIM:617116
Fetal anomalies v4.34 NOVA2 Achchuthan Shanmugasundram Source NHS GMS was added to NOVA2.
Mode of inheritance for gene NOVA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859 for gene: NOVA2
Publications for gene: NOVA2 were updated from to 32197073
Fetal anomalies v4.34 NONO Achchuthan Shanmugasundram Source NHS GMS was added to NONO.
Mode of inheritance for gene NONO was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967 for gene: NONO
Publications for gene: NONO were updated from 31680349; 32397791 to 27329731; 32397791; 26571461; 31680349; 27550220
Fetal anomalies v4.34 NID1 Achchuthan Shanmugasundram gene: NID1 was added
gene: NID1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NID1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NID1 were set to 30773799; 12480912; 25558065; 23674478
Phenotypes for gene: NID1 were set to Hydrocephalus with or without seizures; Dandy-Walker malformation and occipital cephalocele
Fetal anomalies v4.34 NFIB Achchuthan Shanmugasundram gene: NFIB was added
gene: NFIB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIB were set to 30388402; 32902921; 33130023
Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, OMIM:618286
Fetal anomalies v4.34 NFIA Achchuthan Shanmugasundram gene: NFIA was added
gene: NFIA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIA were set to 32926563; 35018717; 36553517; 33973697
Phenotypes for gene: NFIA were set to Brain malformations with or without urinary tract defects, OMIM:613735
Fetal anomalies v4.34 NEXN Achchuthan Shanmugasundram Source NHS GMS was added to NEXN.
Mode of inheritance for gene NEXN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NEXN were updated from 32058062; 33027564 to 33947203; 32058062; 35166435; 33027564; 33949776
Fetal anomalies v4.34 NAA15 Achchuthan Shanmugasundram Source NHS GMS was added to NAA15.
Mode of inheritance for gene NAA15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787 for gene: NAA15
Publications for gene: NAA15 were updated from to 31127942; 33557580
Fetal anomalies v4.34 MYBPC3 Achchuthan Shanmugasundram Source NHS GMS was added to MYBPC3.
Mode of inheritance for gene MYBPC3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cardiomyopathy, hypertrophic, 4, OMIM:115197 for gene: MYBPC3
Publications for gene: MYBPC3 were updated from 19858127; 28749478 to 19858127; 16679492; 28749478; 17937428
Fetal anomalies v4.34 MPZ Achchuthan Shanmugasundram Source Expert Review Amber was added to MPZ.
Source NHS GMS was added to MPZ.
Mode of inheritance for gene MPZ was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Hypomyelinating neuropathy, congenital, 2, OMIM:618184 for gene: MPZ
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 MPDZ Achchuthan Shanmugasundram gene: MPDZ was added
gene: MPDZ was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDZ were set to 29499638; 30518636; 23240096; 28556411
Phenotypes for gene: MPDZ were set to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219
Fetal anomalies v4.34 MNS1 Achchuthan Shanmugasundram gene: MNS1 was added
gene: MNS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNS1 were set to 30148830; 31534215
Phenotypes for gene: MNS1 were set to Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948
Fetal anomalies v4.34 MED27 Achchuthan Shanmugasundram gene: MED27 was added
gene: MED27 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286
Fetal anomalies v4.34 MED25 Achchuthan Shanmugasundram gene: MED25 was added
gene: MED25 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 32324310; 25792360; 32816121
Phenotypes for gene: MED25 were set to Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; hypospadias, thin corpus callosum, cerebral ventricular dilatation; multiple congenital anomalies; congenital heart defects; Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449
Fetal anomalies v4.34 MAST1 Achchuthan Shanmugasundram gene: MAST1 was added
gene: MAST1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 32818970; 32198973; 31721002; 30449657
Phenotypes for gene: MAST1 were set to cerebellar hypoplasia; corpus callosum anomalies; cortical malformations; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:61827
Fetal anomalies v4.34 MAPK8IP3 Achchuthan Shanmugasundram gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8IP3 were set to 30945334; 30612693
Phenotypes for gene: MAPK8IP3 were set to cerebral atrophy; Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443; corpus callosum anomalies; polymicrogyria
Fetal anomalies v4.34 INTS1 Achchuthan Shanmugasundram gene: INTS1 was added
gene: INTS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS1 were set to 28542170; 31428919; 30622326
Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857
Fetal anomalies v4.34 HS2ST1 Achchuthan Shanmugasundram gene: HS2ST1 was added
gene: HS2ST1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to arthrogryposis; Neurofacioskeletal syndrome with or without renal agenesis, OMIM:619194; multiple congenital anomalies
Fetal anomalies v4.34 HOXA2 Achchuthan Shanmugasundram gene: HOXA2 was added
gene: HOXA2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HOXA2 were set to 32649979; 27503514; 28109504; 18394579; 23775976; 31567444
Phenotypes for gene: HOXA2 were set to Microtia with or without hearing impairment (AD), OMIM:612290
Fetal anomalies v4.34 HK1 Achchuthan Shanmugasundram gene: HK1 was added
gene: HK1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HK1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HK1 were set to 33082562
Phenotypes for gene: HK1 were set to Hemolytic anemia due to hexokinase deficiency, OMIM:235700; Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547
Fetal anomalies v4.34 GRM7 Achchuthan Shanmugasundram gene: GRM7 was added
gene: GRM7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM7 were set to 32286009; 32248644
Phenotypes for gene: GRM7 were set to Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922
Fetal anomalies v4.34 GHR Achchuthan Shanmugasundram Source Expert Review Amber was added to GHR.
Source NHS GMS was added to GHR.
Added phenotypes Growth hormone insensitivity, partial, OMIM:604271; Laron dwarfism, OMIM:262500 for gene: GHR
Publications for gene: GHR were updated from to 9360502
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 GABRB2 Achchuthan Shanmugasundram Source NHS GMS was added to GABRB2.
Mode of inheritance for gene GABRB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental and epileptic encephalopathy 92, OMIM:617829 for gene: GABRB2
Publications for gene: GABRB2 were updated from to 33325057; 27789573; 29100083
Fetal anomalies v4.34 G6PD Achchuthan Shanmugasundram gene: G6PD was added
gene: G6PD was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: G6PD 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: G6PD were set to 33082562
Phenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism), OMIM:300908
Fetal anomalies v4.34 FRA10AC1 Achchuthan Shanmugasundram gene: FRA10AC1 was added
gene: FRA10AC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRA10AC1 were set to 34694367
Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113
Fetal anomalies v4.34 FAT1 Achchuthan Shanmugasundram gene: FAT1 was added
gene: FAT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT1 were set to 34013115; 33418956; 34202629; 26905694; 32902815; 30862798
Phenotypes for gene: FAT1 were set to hand and foot anomalies; nephropathy; ocular anomalies; multiple congenital anomalies
Fetal anomalies v4.34 EXOC7 Achchuthan Shanmugasundram gene: EXOC7 was added
gene: EXOC7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC7 were set to 32103185
Phenotypes for gene: EXOC7 were set to Neurodevelopmental disorder with seizures and brain atrophy, OMIM:619072
Fetal anomalies v4.34 ERGIC1 Achchuthan Shanmugasundram gene: ERGIC1 was added
gene: ERGIC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ERGIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERGIC1 were set to 31230720; 28317099; 34037256
Phenotypes for gene: ERGIC1 were set to Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100
Fetal anomalies v4.34 ERBB3 Achchuthan Shanmugasundram gene: ERBB3 was added
gene: ERBB3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERBB3 were set to 17701904; 31752936; 33720042
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, OMIM:607598
Fetal anomalies v4.34 EMC1 Achchuthan Shanmugasundram Source NHS GMS was added to EMC1.
Mode of inheritance for gene EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 for gene: EMC1
Publications for gene: EMC1 were updated from to 29271071; 26942288
Fetal anomalies v4.34 EDN3 Achchuthan Shanmugasundram gene: EDN3 was added
gene: EDN3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EDN3 were set to 9359047; 27370713; 11303518; 10231870; 8630502; 30171849
Phenotypes for gene: EDN3 were set to Central hypoventilation syndrome, congenital, OMIM:209880; Waardenburg syndrome, type 4B, OMIM:613265; {Hirschsprung disease, susceptibility to, 4}, OMIM:613712
Fetal anomalies v4.34 DYNC1I2 Achchuthan Shanmugasundram gene: DYNC1I2 was added
gene: DYNC1I2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Fetal anomalies v4.34 DLL1 Achchuthan Shanmugasundram gene: DLL1 was added
gene: DLL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709
Fetal anomalies v4.34 DICER1 Achchuthan Shanmugasundram gene: DICER1 was added
gene: DICER1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DICER1 were set to 35114704; 29343557; 33208384; 31232238; 27960159; 24676357; 26227654
Phenotypes for gene: DICER1 were set to GLOW syndrome, somatic mosaic, OMIM:618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors , OMIM:138800; Pleuropulmonary blastoma, OMIM:601200
Fetal anomalies v4.34 DEAF1 Achchuthan Shanmugasundram Source NHS GMS was added to DEAF1.
Mode of inheritance for gene DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Vulto-van Silfout-de Vries syndrome, OMIM:615828; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171 for gene: DEAF1
Publications for gene: DEAF1 were updated from to 28940898; 30923367; 26048982; 24726472; 26834045
Fetal anomalies v4.34 DDX6 Achchuthan Shanmugasundram Source NHS GMS was added to DDX6.
Source Expert Review Red was added to DDX6.
Mode of inheritance for gene DDX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653 for gene: DDX6
Publications for gene: DDX6 were updated from to 31422817
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 CYBB Achchuthan Shanmugasundram gene: CYBB was added
gene: CYBB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CYBB 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: CYBB were set to 16795136; 33082562
Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, OMIM:306400
Fetal anomalies v4.34 CTNNA2 Achchuthan Shanmugasundram gene: CTNNA2 was added
gene: CTNNA2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174
Fetal anomalies v4.34 COL9A3 Achchuthan Shanmugasundram Source NHS GMS was added to COL9A3.
Mode of inheritance for gene COL9A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Stickler syndrome, type VI, OMIM:620022 for gene: COL9A3
Publications for gene: COL9A3 were updated from to 15551337; 31090205; 25381065; 24273071; 33570243; 30450842
Fetal anomalies v4.34 COL25A1 Achchuthan Shanmugasundram Source NHS GMS was added to COL25A1.
Source Expert Review Red was added to COL25A1.
Added phenotypes Arthrogryposis multiplex congenita, MONDO:0015168 for gene: COL25A1
Publications for gene: COL25A1 were updated from to 26437029; 35077597
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 COA7 Achchuthan Shanmugasundram gene: COA7 was added
gene: COA7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 27683825; 29718187
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, OMIM:618387
Fetal anomalies v4.34 CFAP52 Achchuthan Shanmugasundram gene: CFAP52 was added
gene: CFAP52 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP52 were set to 33139725; 25469542
Phenotypes for gene: CFAP52 were set to Heterotaxy, visceral, 10, autosomal, with male infertility, OMIM:619607
Fetal anomalies v4.34 CFAP45 Achchuthan Shanmugasundram gene: CFAP45 was added
gene: CFAP45 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP45 were set to 33139725
Phenotypes for gene: CFAP45 were set to Heterotaxy, visceral, 11, autosomal, with male infertility, OMIM:619608
Fetal anomalies v4.34 CAPN15 Achchuthan Shanmugasundram gene: CAPN15 was added
gene: CAPN15 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN15 were set to 32885237
Phenotypes for gene: CAPN15 were set to microphthalmia HP:0000568; coloboma HP:0000589; Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318
Fetal anomalies v4.34 CACNA1A Achchuthan Shanmugasundram Source NHS GMS was added to CACNA1A.
Mode of inheritance for gene CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental and epileptic encephalopathy 42, OMIM:617106 for gene: CACNA1A
Publications for gene: CACNA1A were updated from to 27476654
Fetal anomalies v4.34 ATP6V1B2 Achchuthan Shanmugasundram Source NHS GMS was added to ATP6V1B2.
Source Expert Review Red was added to ATP6V1B2.
Mode of inheritance for gene ATP6V1B2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480; Zimmermann-Laband syndrome 2, OMIM:616455 for gene: ATP6V1B2
Publications for gene: ATP6V1B2 were updated from to 28396750; 24913193; 25915598
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 ATP1A3 Achchuthan Shanmugasundram Source Expert Review Amber was added to ATP1A3.
Source NHS GMS was added to ATP1A3.
Mode of inheritance for gene ATP1A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Polymicrogyria; Developmental and epileptic encephalopathy 99, OMIM:619606 for gene: ATP1A3
Publications for gene: ATP1A3 were updated from to 33880529; 33762331
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 APC2 Achchuthan Shanmugasundram gene: APC2 was added
gene: APC2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, OMIM:618677
Fetal anomalies v4.34 ANGPT2 Achchuthan Shanmugasundram Source NHS GMS was added to ANGPT2.
Mode of inheritance for gene ANGPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes hydrops fetalis, MONDO:0015193 for gene: ANGPT2
Fetal anomalies v4.34 ALPK3 Achchuthan Shanmugasundram gene: ALPK3 was added
gene: ALPK3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPK3 were set to 26846950; 28630369
Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, OMIM:618052
Fetal anomalies v4.34 ALG14 Achchuthan Shanmugasundram gene: ALG14 was added
gene: ALG14 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to 34971077; 23404334; 28733338; 30221345
Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227; Myopathy, epilepsy, and progressive cerebral atrophy, OMIM:619036
Fetal anomalies v4.34 ALDH1A2 Achchuthan Shanmugasundram gene: ALDH1A2 was added
gene: ALDH1A2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A2 were set to 33565183; 36263470
Phenotypes for gene: ALDH1A2 were set to Diaphragmatic hernia 4, with cardiovascular defects, OMIM:620025
Fetal anomalies v4.34 ADCY6 Achchuthan Shanmugasundram gene: ADCY6 was added
gene: ADCY6 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY6 were set to 33820833; 26257172; 24319099; 31846058
Phenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8, OMIM:616287; MONDO:0014570
Fetal anomalies v4.33 GATA1 Sarah Leigh changed review comment from: Three GATA1 variants have been associated with OMIM:301083, including fetal hydrops in at least three unrelated cases (PMID: 20301538; 30914438; 29949202; 35580337).; to: Three GATA1 variants have been associated with OMIM:301083, including fetal hydrops in at least three unrelated cases (PMID: 20301538; 30914438; 29949202; 35580337). This gene could be relevant to the fetal anomalies panel.
Fetal anomalies v4.32 GATA1 Sarah Leigh gene: GATA1 was added
gene: GATA1 was added to Fetal anomalies. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GATA1 were set to 10700180; 33082562; 20301538; 30914438; 29949202; 35580337
Phenotypes for gene: GATA1 were set to Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835; Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083
Fetal anomalies v4.31 DCC Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Fetal anomalies v4.30 DCC Achchuthan Shanmugasundram Phenotypes for gene: DCC were changed from Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability to Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542
Fetal anomalies v4.28 DCC Achchuthan Shanmugasundram Mode of inheritance for gene: DCC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.27 DCC Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 19127048, 19720981, 20431009, 21242494, 28250454, 31697046, 28250456, 33141514; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600, Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.24 FZD6 Sarah Leigh reviewed gene: FZD6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.23 MED12 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v4.23 MED12 Achchuthan Shanmugasundram reviewed gene: MED12: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.23 USP14 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are four unrelated families snd functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.; to: Comment on list classification: There are four unrelated families and functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Fetal anomalies v4.23 USP14 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated families snd functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Fetal anomalies v4.21 USP14 Achchuthan Shanmugasundram Phenotypes for gene: USP14 were changed from Syndromic disease MONDO:0002254, USP14-related to syndromic disease, MONDO:0002254; distal arthrogryposis, MONDO:0019942
Fetal anomalies v4.20 USP14 Achchuthan Shanmugasundram reviewed gene: USP14: Rating: GREEN; Mode of pathogenicity: None; Publications: 35066879, 38469793; Phenotypes: syndromic disease, MONDO:0002254, distal arthrogryposis, MONDO:0019942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.20 MDFIC Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six unrelated cases and functional evidence) for the promotion of this gene to green rating in the next GMS update.
Fetal anomalies v4.19 MDFIC Achchuthan Shanmugasundram Phenotypes for gene: MDFIC were changed from conducting lymphatic anomaly with lymphedema to Lymphatic malformation 12, OMIM:620014
Fetal anomalies v4.17 MDFIC Achchuthan Shanmugasundram reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 35235341; Phenotypes: Lymphatic malformation 12, OMIM:620014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.17 KCNT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, PMID:36307859 reported a foetus with increased nuchal translucency and bilateral choroid plexus cysts. Hence, the rating can be updated from red to amber.
Fetal anomalies v4.15 KCNK9 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are several unrelated cases reported with KCNK9 variants and Birk-Barel syndrome (MIM #612292). Clinical presentations include motor and speech delay, impaired intellectual development, early feeding difficulties, muscular hypotonia, behavioral abnormalities and dysmorphic features.

In addition, this gene has also been associated with phenotypes on the DD panel of Gene2Phenotype resource with 'limited' rating.

As reviewed by Sarah Graham, a foetus has also been reported with KCNK9 variant and with phenotypes consistent with this disorder.

Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v4.12 KCNK9 Achchuthan Shanmugasundram reviewed gene: KCNK9: Rating: GREEN; Mode of pathogenicity: None; Publications: 36307859; Phenotypes: Birk-Barel syndrome, OMIM:612292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v4.12 GNB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, monoallelic GNB2 variants are associated with a neurodevelopmental disorder with features including dysmorphic facial features, cardiac and renal abnormalities.

This gene has been associated with phenotypes in OMIM (MIM #619503) and DD panel of Gene2Phenotype resource (with 'Definitive' rating, previously known as 'confirmed').

A foetus was also reported with phenotypes consistent with this gene.

Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v4.11 GNB2 Achchuthan Shanmugasundram Phenotypes for gene: GNB2 were changed from to Neurodevelopmental disorder with hypotonia and dysmorphic facies, OMIM:619503
Fetal anomalies v4.9 GNB2 Achchuthan Shanmugasundram reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31698099, 34183358, 36658419; Phenotypes: Neurodevelopmental disorder with hypotonia and dysmorphic facies, OMIM:619503; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.9 CLCN5 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: AS reviewed by Sarah Graham, this gene has been rated red in this panel.; to: Comment on list classification: As reviewed by Sarah Graham, this gene has been rated red in this panel.
Fetal anomalies v4.9 CLCN5 Achchuthan Shanmugasundram Added comment: Comment on list classification: AS reviewed by Sarah Graham, this gene has been rated red in this panel.
Fetal anomalies v4.7 ARV1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, there are four cases from three different families (including two foetuses from a single family) reported with biallelic ARV1 variants and prenatal abnormalities. However, it should be noted that multiple major structural anomalies were not reported in these cases. Hence, this gene should be rated amber with the current evidence.
Fetal anomalies v4.6 ARV1 Achchuthan Shanmugasundram Phenotypes for gene: ARV1 were changed from to Developmental and epileptic encephalopathy 38, OMIM:617020
Fetal anomalies v4.4 ARV1 Achchuthan Shanmugasundram reviewed gene: ARV1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34296759, 36307859; Phenotypes: Developmental and epileptic encephalopathy 38, OMIM:617020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.4 CLCN5 Sarah Leigh Phenotypes for gene: CLCN5 were changed from to Dent disease 1, OMIM:300009; Hypophosphatemic rickets, OMIM:300554; Nephrolithiasis, type I, OMIM:310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990
Fetal anomalies v4.3 GNB2 Sarah Graham gene: GNB2 was added
gene: GNB2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB2 were set to 36658419
Mode of pathogenicity for gene: GNB2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: GNB2 was set to GREEN
Added comment: Gene associated with autosomal dominant neurodevelopmental disorder; features include dysmorphic facial features, cardiac and renal abnormalities (OMIM #619503). Recurrent de novo pathogenic missense variant p.(Lys89Glu) (https://www.ncbi.nlm.nih.gov/clinvar/variation/1217306/) reported in a fetus with phenotype consistent with this gene: cardiac abnormalities (hypoplastic left heart and hypoplastic aortic arch, double outlet right ventricle, great arteries located side-by-side, ventricular septal defect, persistent left superior vena cava connecting to coronary sinus), renal agenesis, mildly dysmorphic facies (Byrne 2023 PMID: 36658419).
Sources: Literature
Fetal anomalies v4.3 KCNT1 Sarah Graham reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36307859; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.3 CLCN5 Sarah Graham gene: CLCN5 was added
gene: CLCN5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CLCN5 were set to 36307859; 36495297; 37229200
Review for gene: CLCN5 was set to RED
Added comment: Loss-of-function variants associated with X-linked recessive renal tubular disorders. Maternally inherited hemizygous splice variant, c.934-1G>T, reported in 3 male fetuses with variable phenotypes across 3 studies from the same centre. Phenotypes in reported cases: polyhydramnios and large size for gestational age (Fu 2022 PMID: 36307859, case 229); growth restriction, polyhydramnios, pre-term birth at 31 weeks (Zhou 2023 PMID: 36495297, patient 5); microcephaly (Wang 2023 PMID: 37229200, patient 18). No definitive evidence that this variant is pathogenic. As all prenatal reports are of the same variant and from the same centre, concern that these may be incidental findings due to variant frequency in the local population (variant absent from gnomAD).
Sources: Literature
Fetal anomalies v4.3 ARV1 Sarah Graham gene: ARV1 was added
gene: ARV1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ARV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARV1 were set to PMID: 36307859; 34296759
Review for gene: ARV1 was set to AMBER
Added comment: Biallelic loss-of-function variants associated with autosomal recessive developmental and epileptic encephalopathy-38 (DEE38). Biallelic variants reported prenatally in 3 families (4 fetuses) in association with abnormal scan findings, particularly renal abnormalities. Renal abnormalities are not a common postnatal finding in this disorder, so causal relationship to scan findings is unclear.

Salian 2021 PMID: 34296759, patient 3 - compound heterozygous frameshift and missense variants, p.(Pro174Alafs*14) and p.(Cys34Tyr), with prenatal hydronephrosis, postnatally profound ID, seizures, genitourinary abnormalities. Salian 2021 PMID: 34296759, Patients 5/6 (successive pregnancies of consanguineous parents) - homozygous c.674-1G>A; patient 5 termination at week 22 due to megaureter, small femora and humeri and narrow thorax; patient 6 NT 6.3 mm at week 14, bilaterally dilated renal pelvis at week 16+1. Fu 2022 PMID: 36307859 - compound het frameshift variants, p.(Glu137Asnfs*13) and p.(Pro174Alafs*14), reported in a fetus with dilation of lateral ventricles and polyhydramnios.
Sources: Literature
Fetal anomalies v4.3 KCNK9 Sarah Graham gene: KCNK9 was added
gene: KCNK9 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: KCNK9 were set to PMID: 36307859
Review for gene: KCNK9 was set to GREEN
Added comment: The recurrent p.(Gly236Arg) variant is well established as the cause of KCNK9 Imprinting Syndrome / Birk-Barel Syndrome (OMIM #612292) when present on the maternal allele. This variant has been reported as a de novo finding on exome sequencing in a fetus with scan findings consistent with this disorder (micrognathia, cleft palate). PMID: 36307859
Sources: Literature
Fetal anomalies v4.3 TLL1 Arina Puzriakova Added comment: Comment on list classification: TLL1 was re-reviewed by the GMS specialist team and it was decided that this gene should be demoted from Green to Amber, in line with the review by Stephanie Allen (Birmingham Women's Hospital).
Fetal anomalies v4.2 CELSR1 Arina Puzriakova Added comment: Comment on list classification: CELSR1 was re-reviewed by the GMS specialist team and it was decided that this gene should be demoted from Green to Amber, in line with the review by Stephanie Allen (Birmingham Women's Hospital).
Fetal anomalies v4.1 MDFIC Dmitrijs Rots gene: MDFIC was added
gene: MDFIC was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDFIC were set to PMID: 35235341
Phenotypes for gene: MDFIC were set to conducting lymphatic anomaly with lymphedema
Review for gene: MDFIC was set to GREEN
Added comment: Six independet families with specific phenotype and AR inheritance + mouse model. Enough for green rating.
Sources: Literature
Fetal anomalies v4.1 CELSR1 Stephanie Allen changed review comment from: This gene and phenotype were re-reviewed by the fetal anomaly panel review group in May 2024. Suggest downgrade to amber:
Clingen presentation - 3 phenotypes linked NTD as a susceptibility locus only, epilepsy no obvious prenatal link. Lymphatic malformations good evidence for truncating variants only. Variable expressivity/penetrance in males. Females earliest onset reported form birth but no evidence of hydrops. Usual onset adolescents. Not enough evidence, suggest Amber to watch for link to hydrops.; to: This gene and phenotype were re-reviewed by the fetal anomaly panel review group in May 2024. Suggest downgrade to amber:
Clingen presentation - 3 phenotypes linked NTD as a susceptibility locus only, epilepsy no obvious prenatal link. Lymphatic malformations good evidence for truncating variants only. Variable expressivity/penetrance in males. Females earliest onset reported form birth but no evidence of hydrops. Usual onset adolescents. Not enough evidence, suggest Amber to watch for link to hydrops.
Fetal anomalies v4.1 TLL1 Stephanie Allen reviewed gene: TLL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v4.1 CELSR1 Stephanie Allen reviewed gene: CELSR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v3.168 IGF1 Arina Puzriakova Phenotypes for gene: IGF1 were changed from INSULIN-LIKE GROWTH FACTOR I DEFICIENCY to Insulin-like growth factor I deficiency, OMIM:608747
Fetal anomalies v3.167 LIG4 Arina Puzriakova Phenotypes for gene: LIG4 were changed from SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION; LIG4 SYNDROME to LIG4 syndrome, OMIM:606593
Fetal anomalies v3.157 USP14 Zornitza Stark gene: USP14 was added
gene: USP14 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP14 were set to 38469793
Phenotypes for gene: USP14 were set to Syndromic disease MONDO:0002254, USP14-related
Review for gene: USP14 was set to AMBER
Added comment: PMID 38469793: biallelic USP14 variants in four individuals from three unrelated families: one fetus, a newborn with a syndromic NDD, and two siblings affected by a progressive neurological disease. Specifically, the two siblings from the latter family carried two compound heterozygous variants c.8T>C p.(Leu3Pro) and c.988C>T p.(Arg330*), while the fetus had a homozygous frameshift c.899_902del p.(Lys300Serfs*24) variant and the newborn patient harbored a homozygous frameshift c.233_236del p.(Leu78Glnfs*11) variant. The fetus and the newborn had extensive brain malformations.
Sources: Literature
Fetal anomalies v3.157 PLD1 Arina Puzriakova changed review comment from: Comment on list classification: This Green gene was signed off in Nov 2022 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.; to: Comment on list classification: This Green gene was signed off in Mar 2023 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.
Fetal anomalies v3.157 PLD1 Arina Puzriakova Added comment: Comment on list classification: This Green gene was signed off in Nov 2022 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.
Fetal anomalies v3.156 PLD1 Arina Puzriakova commented on gene: PLD1: Copied review from Paediatric or syndromic cardiomyopathy (749) v3.43 panel:

Jesse Hayesmoore (Oxford Regional Genetics Laboratory)
Red List (low evidence)

"On the basis of functional data described in PMIDs: 27799408 and 33645542, PLD1 certainly seems to be a plausible functional candidate for causality of cardiac valvular defects. The main paper linking this gene with congenital heart disease / cardiomyopathy is Lahrouchi et al. (2021; PMID: 33645542; note this also includes the same 2 cases as described in Ta-Shma et al. 2017 PMID: 27799408). The paper presents 19 families with severe fetal- / neonatal-onset congenital heart (mainly valvular) defects and 2 with cardiomyopathy where affected babies were homozygous or compound heterozygous for PLD1 variants. The paper also provides some functional analysis of missense variants detected, showing that many but not all of them result significant loss of PLD1 function. Unfortunately, the paper does not include a LOD score, and there is very little cosegregation data presented for any of the variants. In addition, 4 of the 31 variants they promote as pathogenic for autosomal recessive disease are detected in multiple homozygous individuals on gnomAD, which I think provides significant evidence that they might not be pathogenic for a severe autosomal recessive condition. Most notably, 1 of the variants (i.e. I668F), which the authors promote as a pathogenic Ashkenazi Jewish founder variant (but which is also fairly frequent in non-Finnish Europeans) is detected in 7 homozygotes on gnomAD and was found to have ~80% loss of PLD1 function in their assay. This suggests that significant loss of function of this gene (i.e. down to 20%) might not be causative of a severe recessive condition (that is not to say that total or near total loss of function is not causative). Three other of the variants promoted as pathogenic in this article are also detected in homozygotes on gnomAD.

I think one of the major pieces of missing information required to make a full assessment of this gene’s linkage to disease is that is unknown how frequent biallelic (apparently loss of function) variant genotypes are in the general population or in healthy control individuals. Although homozygosity for any one variant can be determined from gnomAD, compound heterozygosity (which is likely to represent the vast majority of biallelic genotypes) cannot be assessed on gnomAD, and I can find no record in the literature of this being assessed in a normal control cohort. Without this information, we cannot know whether biallelic PLD1 genotypes are specific to babies with this severe phenotype. Without knowing this, and in the absence of any significant cosegregation data for any variant, there is no reasonable basis upon which one can conclude that this is a valid autosomal recessive gene for the phenotype. Without such validation, PVS1 cannot be applied for any apparent loss of function variant. Given this, and the general lack of cosegregation data for any one variant, I do not believe there is any PLD1 variant reported in the literature that could be classified as anything but uncertain significance (if not benign or likely benign) on the basis of current variant classification guidelines. Also, there are only two cases of biallelic variants in neonates where the primary phenotype is cardiomyopathy, and of these only one was dilated cardiomyopathy (the other was histiocytoid cardiomyopathy). Hence, the evidence linking this gene to cardiomyopathy is even weaker than it is for valvular defects. I, therefore, do not feel there is sufficient evidence to justify this gene being tested as part of the R135 paediatric cardiomyopathy gene panel.

Other papers (e.g. PMIDs: 33142350, 35380090, 36923242, 37770978) reporting a link between PLD1 genotypes and early onset cardiac disease (not cardiomyopathy) have been published. However, again, I do not think there is sufficient data in the articles to allow any of the variants detected to be confidently classified as anything but VUS according to current variant classification guidelines."
Created: 31 Jan 2024, 12:04 p.m. | Last Modified: 31 Jan 2024, 12:17 p.m
Fetal anomalies v3.155 GRM1 Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Zornitza Stark. Could not find any evidence of prenatal phenotypes in patients with GRM1 variants.
Fetal anomalies v3.152 NRXN2 Sarah Leigh Added comment: Comment on list classification: There insufficient evidence between NRXN2 variants and autism for this gene to be rated amber.
Fetal anomalies v3.151 RRAS Sarah Leigh edited their review of gene: RRAS: Added comment: RRAS variants have not associated with a phenotype in OMIM or MONDO, but Gen2Phen lists a strong association between RRAS variants and RRAS-related atypical Noonan syndrome. Three germline RRAS variants have been reported (PMID: 24705357; 32815881; 34935735), associated with a RASopathy, which includes myelodysplastic syndrome and contributes to leukaemogenesis.; Changed rating: GREEN; Changed publications to: 24705357, 32815881, 34935735
Fetal anomalies v3.147 FZD5 Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Microphthalmia/coloboma 11, OMIM:620731)
Fetal anomalies v3.147 FZD5 Arina Puzriakova Phenotypes for gene: FZD5 were changed from Autosomal Dominant Coloboma to Microphthalmia/coloboma 11, OMIM:620731
Fetal anomalies v3.146 RECQL4 Arina Puzriakova Phenotypes for gene: RECQL4 were changed from RAPADILINO SYNDROME; ROTHMUND-THOMSON SYNDROME; BALLER-GEROLD SYNDROME to Baller-Gerold syndrome, OMIM:218600; RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400
Fetal anomalies v3.142 ROBO1 Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'monoallelic' to 'both mono- and biallelic' at the next GMS panel update.

Biallelic variants in the ROBO1 gene are associated with neurooculorenal syndrome (OMIM:620305). Clinical manifestations are generally highly variable and involve several organ systems. However, some cases do present in utero with renal agenesis and structural brain abnormalities (PMID: 29194579; 35227688) indicating that the phenotype is relevant to this panel.
Fetal anomalies v3.140 SPATA5 Arina Puzriakova Phenotypes for gene: SPATA5 were changed from EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577
Fetal anomalies v3.137 NHEJ1 Arina Puzriakova Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291 to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291
Fetal anomalies v3.135 MSTO1 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal.
Fetal anomalies v3.135 MSTO1 Sarah Leigh Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v3.133 MSTO1 Sarah Leigh reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.127 PRX Arina Puzriakova Phenotypes for gene: PRX were changed from Charcot-Marie-Tooth disease, type 4F 614895; Dejerine-Sottas disease 145900 to Dejerine-Sottas disease, OMIM; 145900
Fetal anomalies v3.126 PRX Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'both mono- and biallelic' to 'biallelic' as only recessive cases have been reported in literature.

OMIM states AD/AR inheritance for Dejerine-Sottas disease as this can be caused by both heterozygous and homozygous variants in other genes (e.g. PMP22, EGR2) but seemingly not in PRX.
Fetal anomalies v3.126 PRX Arina Puzriakova Mode of inheritance for gene: PRX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.124 CNBP_CCTG Sarah Leigh Deleted their comment
Fetal anomalies v3.124 CNBP_CCTG Sarah Leigh commented on STR: CNBP_CCTG: As STR: CNBP_CCTG has been reviewed and confirmed by the NHS Genomic Medicine Service, it can be rated as Green on this panel.
Fetal anomalies v3.124 CNBP_CCTG Sarah Leigh reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v3.123 SLC12A6 Arina Puzriakova Phenotypes for gene: SLC12A6 were changed from AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY to Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068; Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000
Fetal anomalies v3.121 NSMF Arina Puzriakova Mode of pathogenicity for gene: NSMF was changed from to Other
Fetal anomalies v3.120 NSMF Arina Puzriakova Phenotypes for gene: NSMF were changed from Hypogonadotropic hypogonadism 9 with or without anosmia 614838 to Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838
Fetal anomalies v3.119 SEC23B Arina Puzriakova Phenotypes for gene: SEC23B were changed from ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II to Dyserythropoietic anemia, congenital, type II, OMIM:224100
Fetal anomalies v3.118 ESAM Achchuthan Shanmugasundram Phenotypes for gene: ESAM were changed from intracranial hemorrhage; cerebral anomalies to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
Fetal anomalies v3.116 ESAM Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Julia Baptista, PMID:36996813 reported foetal intracranial hemorrhage in four foetuses from three unrelated families. Hence, there is sufficient evidence for this gene to be promoted to green rating in this panel in the next GMS review.
Fetal anomalies v3.115 ESAM Achchuthan Shanmugasundram reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 36996813; Phenotypes: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.115 FAM111A Sarah Leigh Added comment: Comment on mode of inheritance: PMID: 34382758 reports an autosomal recessive case of Kenny-Caffey Syndrome Type 2. The proband had inherited FAM111A variants from his healthy parents (paternal heterozygous missense
variant c.976T>A (p.L326I) and maternal heterozygous
in-frame deletion variant c.1714_1716del (p.Ile572del,
rs779963813)).
Fetal anomalies v3.111 CDX2 Eleanor Williams commented on gene: CDX2: Removed the Q2_23_promote_green tag as has now been promoted to green.
Fetal anomalies v3.111 CLCN4 Sarah Leigh changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Fetal anomalies v3.111 ZMYM2 Sarah Leigh reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 WLS Sarah Leigh reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 UQCRFS1 Sarah Leigh reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 TK2 Sarah Leigh reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 SLC25A46 Sarah Leigh reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 SCUBE3 Sarah Leigh edited their review of gene: SCUBE3: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 RMND1 Sarah Leigh reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 RAB11A Sarah Leigh reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 QRSL1 Sarah Leigh reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PRKACB Sarah Leigh reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 PRKACA Sarah Leigh reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v3.111 PNPLA8 Sarah Leigh reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PLXND1 Sarah Leigh reviewed gene: PLXND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PET100 Sarah Leigh reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PDHX Sarah Leigh reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PDHB Sarah Leigh reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PC Sarah Leigh reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFS1 Sarah Leigh reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFB3 Sarah Leigh reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFB10 Sarah Leigh reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFAF8 Sarah Leigh reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFA6 Sarah Leigh reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 MYL9 Sarah Leigh reviewed gene: MYL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 MTFMT Sarah Leigh reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 MECOM Sarah Leigh reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 KIF21A Sarah Leigh reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 KDM5C Sarah Leigh reviewed gene: KDM5C: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.111 IBA57 Sarah Leigh reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 GATB Sarah Leigh reviewed gene: GATB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 ECHS1 Sarah Leigh reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 EARS2 Sarah Leigh reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 DNA2 Sarah Leigh reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 DARS2 Sarah Leigh reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 COQ7 Sarah Leigh reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 CLCN4 Sarah Leigh reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.111 CDX2 Sarah Leigh reviewed gene: CDX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v3.111 C1QBP Sarah Leigh reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 C19orf70 Sarah Leigh reviewed gene: C19orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 ATP5O Sarah Leigh reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 AGTR1 Sarah Leigh reviewed gene: AGTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 AARS2 Sarah Leigh reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.110 KDM5C Sarah Leigh Source NHS GMS was added to KDM5C.
Mode of inheritance for gene KDM5C was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.109 NRXN2 Dmitrijs Rots reviewed gene: NRXN2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36923655; Phenotypes: ASD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted