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Fetal anomalies v6.21 RNU5A-1 Arina Puzriakova gene: RNU5A-1 was added
gene: RNU5A-1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNU5A-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU5A-1 were set to 40379786
Phenotypes for gene: RNU5A-1 were set to Neurodevelopmental disorder, MONDO:0700092
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 RIPPLY2 Arina Puzriakova gene: RIPPLY2 was added
gene: RIPPLY2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RIPPLY2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPPLY2 were set to 26238661; 25343988; 32212228; 33410135
Phenotypes for gene: RIPPLY2 were set to Spondylocostal dysostosis 6, OMIM:616566
Fetal anomalies v6.21 RBFOX2 Arina Puzriakova gene: RBFOX2 was added
gene: RBFOX2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RBFOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBFOX2 were set to 27670201; 25205790; 37165897; 26785492; 27485310; 35137168
Phenotypes for gene: RBFOX2 were set to Congenital heart disease, MONDO:0005453
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 PYGL Arina Puzriakova Added phenotypes Glycogen storage disease VI for gene: PYGL
Publications for gene: PYGL were updated from to 39891418
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 PTEN Arina Puzriakova Source Expert Review Amber was added to PTEN.
Mode of inheritance for gene PTEN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cowden syndrome 1 for gene: PTEN
Publications for gene: PTEN were updated from to 40261085
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 PSKH1 Arina Puzriakova gene: PSKH1 was added
gene: PSKH1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PSKH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSKH1 were set to 39132680
Phenotypes for gene: PSKH1 were set to hepatorenal syndrome, MONDO:0001382
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 PPFIA3 Arina Puzriakova gene: PPFIA3 was added
gene: PPFIA3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PPFIA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPFIA3 were set to 37034625; 38508193; 38723631; 38181735
Phenotypes for gene: PPFIA3 were set to Paul-Chao neurodevelopmental syndrome
Fetal anomalies v6.21 POU3F3 Arina Puzriakova gene: POU3F3 was added
gene: POU3F3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU3F3 were set to 37593446; 31303265
Phenotypes for gene: POU3F3 were set to Snijders Blok-Fisher syndrome
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 PIGQ Arina Puzriakova gene: PIGQ was added
gene: PIGQ was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGQ were set to 24463883; 25558065; 31148362; 32588908
Phenotypes for gene: PIGQ were set to Multiple congenital anomalies-hypotonia-seizures syndrome 4
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 PIGM Arina Puzriakova gene: PIGM was added
gene: PIGM was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PIGM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGM were set to 25293775; 16767100
Phenotypes for gene: PIGM were set to Glycosylphosphatidylinositol deficiency
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 PDE12 Arina Puzriakova Added phenotypes Mitochondrial disease, MONDO:0044970 for gene: PDE12
Fetal anomalies v6.21 PDCD2 Arina Puzriakova gene: PDCD2 was added
gene: PDCD2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PDCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDCD2 were set to 40208938
Phenotypes for gene: PDCD2 were set to hydrops fetalis and early pregnancy loss
Fetal anomalies v6.21 PAK2 Arina Puzriakova gene: PAK2 was added
gene: PAK2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK2 were set to 39994693; 40262506; 33693784; 38894571; 37808560; 39876536
Phenotypes for gene: PAK2 were set to Knobloch syndrome 2
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 ODC1 Arina Puzriakova gene: ODC1 was added
gene: ODC1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ODC1 were set to 40188065
Phenotypes for gene: ODC1 were set to Bachmann-Bupp syndrome
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 NT5E Arina Puzriakova gene: NT5E was added
gene: NT5E was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: NT5E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5E were set to 21288095; 32522903; 28825389; 26178434; 34999808; 27045881; 26010187
Phenotypes for gene: NT5E were set to arterial calcification; joint calcification
Fetal anomalies v6.21 NR2F1 Arina Puzriakova Source Expert Review Amber was added to NR2F1.
Mode of inheritance for gene NR2F1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome for gene: NR2F1
Publications for gene: NR2F1 were updated from to 40066675; 32712214; 31318166; 36221391; 32484994
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 NODAL Arina Puzriakova Mode of inheritance for gene NODAL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Heterotaxy, visceral, 5 for gene: NODAL
Publications for gene: NODAL were updated from to 9354794; 19064609
Fetal anomalies v6.21 NMNAT1 Arina Puzriakova Source Expert Review Amber was added to NMNAT1.
Added phenotypes Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis for gene: NMNAT1
Publications for gene: NMNAT1 were updated from to 39891418
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 NKX2-6 Arina Puzriakova Added phenotypes Conotruncal heart malformations; Persistent truncus arteriosus for gene: NKX2-6
Publications for gene: NKX2-6 were updated from 32198970; 15649947; 24421281; 25319568; 25380965 to 25319568; 15649947; 32198970; 39891418; 25380965; 24421281
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 NEPRO Arina Puzriakova gene: NEPRO was added
gene: NEPRO was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NEPRO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEPRO were set to 29620724; 31250547; 37294112; 26633546
Phenotypes for gene: NEPRO were set to Anauxetic dysplasia 3, OMIM:618853
Fetal anomalies v6.21 NDUFB7 Arina Puzriakova Added phenotypes Mitochondrial complex I deficiency, nuclear type 39 for gene: NDUFB7
Publications for gene: NDUFB7 were updated from 33502047; 27626371; 40025060 to 27626371; 40025060; 33502047
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 NAGLU Arina Puzriakova Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) for gene: NAGLU
Publications for gene: NAGLU were updated from to 40066675
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 MSL2 Arina Puzriakova gene: MSL2 was added
gene: MSL2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MSL2 were set to 38815585; 33057194; 31332282
Phenotypes for gene: MSL2 were set to Karayol-Borroto-Haghshenas neurodevelopmental syndrome
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 MAP3K3 Arina Puzriakova gene: MAP3K3 was added
gene: MAP3K3 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: MAP3K3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP3K3 were set to 25728774
Phenotypes for gene: MAP3K3 were set to Cerebral cavernous malformations 5
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 LSS Arina Puzriakova gene: LSS was added
gene: LSS was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 39359128
Phenotypes for gene: LSS were set to Cataract 44; Alopecia-intellectual disability syndrome 4
Fetal anomalies v6.21 LRRC8C Arina Puzriakova gene: LRRC8C was added
gene: LRRC8C was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: LRRC8C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRRC8C were set to 39623139
Phenotypes for gene: LRRC8C were set to TIMES syndrome
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 LDB1 Arina Puzriakova gene: LDB1 was added
gene: LDB1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: LDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LDB1 were set to 39680505
Phenotypes for gene: LDB1 were set to Congenital hydrocephalus, MONDO:0016349
Fetal anomalies v6.21 LAGE3 Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 2, X-linked for gene: LAGE3
Publications for gene: LAGE3 were updated from 31069511; 28805828 to 31069511; 28805828; 36682911
Fetal anomalies v6.21 KMT2E Arina Puzriakova Source Expert Review Amber was added to KMT2E.
Mode of inheritance for gene KMT2E was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes O'Donnell-Luria-Rodan syndrome for gene: KMT2E
Publications for gene: KMT2E were updated from to 40186013
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 C12orf66 Arina Puzriakova gene: C12orf66 was added
gene: C12orf66 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: C12orf66 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf66 were set to 39824192
Phenotypes for gene: C12orf66 were set to Intellectual developmental disorder, autosomal recessive 83
Fetal anomalies v6.21 KDM6B Arina Puzriakova gene: KDM6B was added
gene: KDM6B was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM6B were set to 31124270; 37196654
Phenotypes for gene: KDM6B were set to Stolerman neurodevelopmental syndrome, OMIM:618505
Fetal anomalies v6.21 KDM1A Arina Puzriakova Added phenotypes Cleft palate, psychomotor retardation, and distinctive facial features for gene: KDM1A
Publications for gene: KDM1A were updated from 27094131; 24838796; 26656649 to 27094131; 24838796; 26656649
Fetal anomalies v6.21 KCNH2 Arina Puzriakova gene: KCNH2 was added
gene: KCNH2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNH2 were set to 36973673; 38094730; 39698424
Phenotypes for gene: KCNH2 were set to Short QT syndrome 1, OMIM:609620; Long QT syndrome 2, OMIM:613688
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 KBTBD2 Arina Puzriakova gene: KBTBD2 was added
gene: KBTBD2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: KBTBD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KBTBD2 were set to 39313616
Phenotypes for gene: KBTBD2 were set to Neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.21 KAT7 Arina Puzriakova gene: KAT7 was added
gene: KAT7 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: KAT7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT7 were set to 40186013
Phenotypes for gene: KAT7 were set to Abnormal male external genitalia morphology; Tetralogy of Fallot
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 ITGAV Arina Puzriakova Added phenotypes Syndromic disease, MONDO:0002254 for gene: ITGAV
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 IFT27 Arina Puzriakova Added phenotypes Bardet-Biedl syndrome 19 for gene: IFT27
Publications for gene: IFT27 were updated from 25443296; 24488770; 26763875; 30761183 to 25443296; 37239474; 24488770; 30761183; 26763875; 2970430
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 HIRA Arina Puzriakova gene: HIRA was added
gene: HIRA was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIRA were set to 33417013; 38511226
Phenotypes for gene: HIRA were set to Complex neurodevelopmental disorder
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 HDAC3 Arina Puzriakova gene: HDAC3 was added
gene: HDAC3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: HDAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HDAC3 were set to 39047730
Phenotypes for gene: HDAC3 were set to HDAC3-related neurodevelopmental disorder
Fetal anomalies v6.21 GUK1 Arina Puzriakova gene: GUK1 was added
gene: GUK1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUK1 were set to 39230499
Phenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome 21
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 GNS Arina Puzriakova Added phenotypes Mucopolysaccharidosis type IIID, OMIM:252940 for gene: GNS
Fetal anomalies v6.21 GNPNAT1 Arina Puzriakova gene: GNPNAT1 was added
gene: GNPNAT1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPNAT1 were set to 39945447
Phenotypes for gene: GNPNAT1 were set to Rhizomelic dysplasia, Ain-Naz type
Fetal anomalies v6.21 GNAI2 Arina Puzriakova gene: GNAI2 was added
gene: GNAI2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAI2 were set to 39298586
Phenotypes for gene: GNAI2 were set to Syndromic developmental disorder
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 GALT Arina Puzriakova Source Expert Review Amber was added to GALT.
Added phenotypes Galactosemia for gene: GALT
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 G6PD Arina Puzriakova Source Expert Review Amber was added to G6PD.
Added phenotypes Glucose-6-phosphate dehydrogenase deficiency for gene: G6PD
Publications for gene: G6PD were updated from 33082562 to 39041728; 33082562
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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 FGG Arina Puzriakova gene: FGG was added
gene: FGG was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGG were set to 39891418
Phenotypes for gene: FGG were set to Afibrinogenemia, congenital; Hypofibrinogenemia, congenital
Fetal anomalies v6.21 FBXW11 Arina Puzriakova Added phenotypes Neurodevelopmental, jaw, eye, and digital syndrome for gene: FBXW11
Publications for gene: FBXW11 were updated from 31402090 to 31402090; 40188065
Fetal anomalies v6.21 FBXO22 Arina Puzriakova gene: FBXO22 was added
gene: FBXO22 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: FBXO22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXO22 were set to 40215970
Phenotypes for gene: FBXO22 were set to Tayoun-Maawali syndrome
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 EXOSC8 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia type 1C for gene: EXOSC8
Publications for gene: EXOSC8 were updated from 24989451; 34210538 to 38017281; 34210538; 24989451
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 ERG Arina Puzriakova gene: ERG was added
gene: ERG was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ERG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERG were set to 36928819
Phenotypes for gene: ERG were set to Lymphatic malformation 14
Fetal anomalies v6.21 EFL1 Arina Puzriakova gene: EFL1 was added
gene: EFL1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFL1 were set to 28331068; 31151987; 34115847; 29970384
Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2
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 DSE Arina Puzriakova gene: DSE was added
gene: DSE was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSE were set to 31655143; 25703627; 23704329; 32130795
Phenotypes for gene: DSE were set to Ehlers-Danlos syndrome, musculocontractural type 2
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 DNAJC21 Arina Puzriakova gene: DNAJC21 was added
gene: DNAJC21 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC21 were set to 29700810; 28062395; 27346687
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3
Fetal anomalies v6.21 DHX9 Arina Puzriakova gene: DHX9 was added
gene: DHX9 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX9 were set to 37369308; 37467750
Phenotypes for gene: DHX9 were set to Intellectual developmental disorder, autosomal dominant 75
Fetal anomalies v6.21 DHRSX Arina Puzriakova gene: DHRSX was added
gene: DHRSX was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Phenotypes for gene: DHRSX were set to Congenital disorder of glycosylation, type 1DD, OMIM:301133
Fetal anomalies v6.21 DDX17 Arina Puzriakova gene: DDX17 was added
gene: DDX17 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: DDX17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX17 were set to 39405200
Phenotypes for gene: DDX17 were set to Neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.21 DAND5 Arina Puzriakova gene: DAND5 was added
gene: DAND5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DAND5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAND5 were set to 36316122; 34215651
Phenotypes for gene: DAND5 were set to Heterotaxy, visceral, 13, autosomal
Fetal anomalies v6.21 CYP24A1 Arina Puzriakova gene: CYP24A1 was added
gene: CYP24A1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP24A1 were set to 28324001; 34307984; 22337913; 27105398
Phenotypes for gene: CYP24A1 were set to cystic kidney disease; hypercalcaemia; nephrocalcinosis
Fetal anomalies v6.21 COQ2 Arina Puzriakova Source Expert Review Amber was added to COQ2.
Added phenotypes Coenzyme Q10 deficiency, primary, 1 for gene: COQ2
Publications for gene: COQ2 were updated from to 39763161
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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 C1orf127 Arina Puzriakova Added phenotypes Heterotaxy, visceral, 14, autosomal for gene: C1orf127
Fetal anomalies v6.21 CHAF1A Arina Puzriakova gene: CHAF1A was added
gene: CHAF1A was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CHAF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHAF1A were set to 39333427
Phenotypes for gene: CHAF1A were set to Oculo-auriculo-vertebral spectrum
Fetal anomalies v6.21 CFI Arina Puzriakova gene: CFI was added
gene: CFI was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFI were set to 39891418
Phenotypes for gene: CFI were set to Complement factor I deficiency
Fetal anomalies v6.21 CELSR1 Arina Puzriakova Added phenotypes Lymphatic malformation-9 for gene: CELSR1
Publications for gene: CELSR1 were updated from 26855770; 31215153; 31403174 to 38272662; 31403174; 26855770; 31215153
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 CTGF Arina Puzriakova gene: CTGF was added
gene: CTGF was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CTGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTGF were set to 39506047; 12736220; 39414788
Phenotypes for gene: CTGF were set to Kyphomelic dysplasia
Fetal anomalies v6.21 BRD2 Arina Puzriakova gene: BRD2 was added
gene: BRD2 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: BRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRD2 were set to 40186013
Phenotypes for gene: BRD2 were set to Agenesis of corpus callosum
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 BICRA Arina Puzriakova gene: BICRA was added
gene: BICRA was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICRA were set to 33232675
Phenotypes for gene: BICRA were set to Coffin-Siris syndrome 12
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 BAIAP2 Arina Puzriakova gene: BAIAP2 was added
gene: BAIAP2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BAIAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAIAP2 were set to 38149472
Phenotypes for gene: BAIAP2 were set to Lissencephaly
Fetal anomalies v6.21 ASCC3 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 for gene: ASCC3
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 ARL6IP1 Arina Puzriakova gene: ARL6IP1 was added
gene: ARL6IP1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6IP1 were set to 39954331
Phenotypes for gene: ARL6IP1 were set to Spastic paraplegia 61, autosomal recessive, OMIM:615685
Fetal anomalies v6.21 ARL2BP Arina Puzriakova gene: ARL2BP was added
gene: ARL2BP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL2BP were set to 27790702; 36507858; 23849777; 38649918; 40384762
Phenotypes for gene: ARL2BP were set to Situs Inversus
Fetal anomalies v6.21 AGT Arina Puzriakova Added phenotypes Renal tubular dysgenesis for gene: AGT
Publications for gene: AGT were updated from 16116425; 28976722; 33163725; 34234805 to 34234805; 28976722; 16116425; 39641285; 33163725
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 v6.21 ACO2 Arina Puzriakova Added phenotypes Infantile cerebellar-retinal degeneration for gene: ACO2
Publications for gene: ACO2 were updated from 34056600 to 34056600; 39891418
Fetal anomalies v6.20 GNS Arina Puzriakova Phenotypes for gene: GNS were changed from MUCOPOLYSACCHARIDOSIS TYPE 3D to Mucopolysaccharidosis type IIID, OMIM:252940
Fetal anomalies v6.19 AGRN Arina Puzriakova Publications for gene: AGRN were set to 31730230
Fetal anomalies v6.18 AGRN Arina Puzriakova Phenotypes for gene: AGRN were changed from Fetal akinesia deformation sequence (FADS) to Fetal akinesia deformation sequence, MONDO:0008824
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 v6.16 ACO2 Arina Puzriakova Phenotypes for gene: ACO2 were changed from INFANTILE CEREBELLAR-RETINAL DEGENERATION to Infantile cerebellar-retinal degeneration, OMIM:614559
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 Classified gene: PDE12 as Amber List (moderate evidence)
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 v6.15 PDE12 Achchuthan Shanmugasundram Gene: pde12 has been classified as Amber List (Moderate Evidence).
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 v6.13 CDH1 Arina Puzriakova Phenotypes for gene: CDH1 were changed from Blepharo-cheiro-dontic syndrome to Blepharocheilodontic syndrome 1, OMIM:119580
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 v6.11 MYH3 Arina Puzriakova Publications for gene: MYH3 were set to
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 v6.10 MYH3 Arina Puzriakova Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.9 MYH3 Arina Puzriakova Tag Q3_25_MOI tag was added to gene: MYH3.
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 v6.8 FLVCR1 Eleanor Williams Publications for gene: FLVCR1 were set to
Fetal anomalies v6.7 FLVCR1 Eleanor Williams Classified gene: FLVCR1 as Amber List (moderate evidence)
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 v6.7 FLVCR1 Eleanor Williams Gene: flvcr1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.6 FLVCR1 Eleanor Williams Tag Q3_25_promote_green tag was added to gene: FLVCR1.
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 commented on gene: C1orf127: Added new-gene-name tag, new approved HGNC gene symbol for C1orf127 is CIROZ
Fetal anomalies v6.4 C1orf127 Arina Puzriakova Tag new-gene-name tag was added to gene: C1orf127.
Fetal anomalies v6.4 C1orf127 Arina Puzriakova Classified gene: C1orf127 as Amber List (moderate evidence)
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 v6.4 C1orf127 Arina Puzriakova Gene: c1orf127 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.3 C1orf127 Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: C1orf127.
Tag Q2_25_ NHS_review tag was added to gene: C1orf127.
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 v6.3 C1orf127 Arina Puzriakova Phenotypes for gene: C1orf127 were changed from Heterotaxy to Heterotaxy, visceral, 14, autosomal, OMIM:621080
Fetal anomalies v6.2 NEU1 Arina Puzriakova Phenotypes for gene: NEU1 were changed from SIALIDOSIS to Sialidosis, type I, OMIM:256550; Sialidosis, type II, OMIM:256550
Fetal anomalies v6.1 Sarah Leigh Panel version 6.0 has been signed off on 2025-04-30
Fetal anomalies v6.0 Sarah Leigh promoted panel to version 6.0
Fetal anomalies v5.98 GAS8 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: GAS8.
Fetal anomalies v5.98 GAS8 Achchuthan Shanmugasundram commented on gene: GAS8
Fetal anomalies v5.98 CCDC65 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: CCDC65.
Fetal anomalies v5.98 CCDC65 Achchuthan Shanmugasundram commented on gene: CCDC65
Fetal anomalies v5.98 ZSCAN10 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ZSCAN10.
Fetal anomalies v5.98 DISP1 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: DISP1.
Fetal anomalies v5.98 DISP1 Achchuthan Shanmugasundram Phenotypes for gene: DISP1 were changed from Holoprosencephaly 10, OMIM:62114 to Holoprosencephaly 10, OMIM:621143
Fetal anomalies v5.97 DISP1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: DISP1.
Fetal anomalies v5.97 DISP1 Achchuthan Shanmugasundram Phenotypes for gene: DISP1 were changed from Holoprosencephaly to Holoprosencephaly 10, OMIM:62114
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 Tag Q2_25_ promote_green tag was added to gene: GPKOW.
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 v5.94 GPKOW Sarah Leigh Publications for gene: GPKOW were set to 28612833
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 Classified gene: SIRT6 as Amber List (moderate evidence)
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 v5.93 SIRT6 Achchuthan Shanmugasundram Gene: sirt6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v5.92 SIRT6 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: SIRT6.
Tag Q2_25_expert_review tag was added to gene: SIRT6.
Fetal anomalies v5.92 SIRT6 Achchuthan Shanmugasundram Phenotypes for gene: SIRT6 were changed from PMID: 29555651 to Fetal anomaly, HP:0034057
Fetal anomalies v5.91 SIRT6 Achchuthan Shanmugasundram Publications for gene: SIRT6 were set to
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 Tag Q2_25_ MOI tag was added to gene: LMNB2.
Tag Q2_25_ NHS_review tag was added to gene: LMNB2.
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 v5.90 LMNB2 Sarah Leigh Phenotypes for gene: LMNB2 were changed from Microcephaly 27, primary, autosomal dominant, OMIM:619180 to Microcephaly 27, primary, autosomal dominant, OMIM:619180; microcephaly 27, primary, autosomal dominant, MONDO:0030929
Fetal anomalies v5.89 LMNB2 Sarah Leigh Publications for gene: LMNB2 were set to 33033404
Fetal anomalies v5.88 SCN4A Sarah Leigh Tag Q2_25_ MOI tag was added to gene: SCN4A.
Tag Q2_25_expert_review tag was added to gene: SCN4A.
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 v5.86 DET1 Sarah Leigh Publications for gene: DET1 were set to 39937864
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 Tag Q1_25_ expert_review tag was added to gene: NDUFB7.
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 Classified gene: NDUFB7 as Amber List (moderate evidence)
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 v5.84 NDUFB7 Arina Puzriakova Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v5.83 NDUFB7 Arina Puzriakova commented on gene: NDUFB7
Fetal anomalies v5.83 NDUFB7 Arina Puzriakova Tag Q1_25_ promote_green tag was added to gene: NDUFB7.
Fetal anomalies v5.83 NDUFB7 Arina Puzriakova Phenotypes for gene: NDUFB7 were changed from ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 to Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Fetal anomalies v5.82 NDUFB7 Arina Puzriakova Publications for gene: NDUFB7 were set to 33502047
Fetal anomalies v5.81 SPR Arina Puzriakova Phenotypes for gene: SPR were changed from DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Fetal anomalies v5.80 EFCAB1 Eleanor Williams changed review comment from: Added new-gene-name tag, new approved HGNC gene symbol forEFCAB1 is CLXN; to: Added new-gene-name tag, new approved HGNC gene symbol for EFCAB1 is CLXN
Fetal anomalies v5.80 EFCAB1 Eleanor Williams commented on gene: EFCAB1
Fetal anomalies v5.80 CCDC115 Eleanor Williams commented on gene: CCDC115
Fetal anomalies v5.80 CCDC115 Eleanor Williams Tag new-gene-name tag was added to gene: CCDC115.
Fetal anomalies v5.80 USP14 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: USP14.
Fetal anomalies v5.80 TSHZ3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TSHZ3.
Fetal anomalies v5.80 PAN2 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PAN2.
Fetal anomalies v5.80 MYBBP1A Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MYBBP1A.
Fetal anomalies v5.80 MAP4K4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MAP4K4.
Fetal anomalies v5.80 KIF5B Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: KIF5B.
Fetal anomalies v5.80 KIF24 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: KIF24.
Fetal anomalies v5.80 KDM2B Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: KDM2B.
Fetal anomalies v5.80 GON4L Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: GON4L.
Fetal anomalies v5.80 CBY1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CBY1.
Fetal anomalies v5.80 AMOTL1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: AMOTL1.
Fetal anomalies v5.80 WDR44 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WDR44.
Fetal anomalies v5.80 RNU4-2 Achchuthan Shanmugasundram Tag locus-type-rna-small-nuclear tag was added to gene: RNU4-2.
Tag gene-checked tag was added to gene: RNU4-2.
Fetal anomalies v5.80 PSMF1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PSMF1.
Fetal anomalies v5.80 HECTD4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HECTD4.
Fetal anomalies v5.80 EFCAB1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: EFCAB1.
Fetal anomalies v5.80 EFCAB1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: EFCAB1.
Fetal anomalies v5.80 DAW1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DAW1.
Fetal anomalies v5.80 C16orf62 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C16orf62.
Fetal anomalies v5.80 AL117258.1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: AL117258.1.
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 HYAL2 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: HYAL2.
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 v5.79 CNBP_CCTG Achchuthan Shanmugasundram Repeated Sequence for CNBP_CCTG was changed from CAGG to CCTG.
Fetal anomalies v5.78 ESAM Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ESAM.
Tag Q4_23_NHS_review was removed from gene: ESAM.
Fetal anomalies v5.78 CNBP_CCTG Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from STR: CNBP_CCTG.
Fetal anomalies v5.78 CNBP_CCTG Achchuthan Shanmugasundram edited their review of STR: CNBP_CCTG: Changed rating: AMBER
Fetal anomalies v5.78 CNBP_CCTG Achchuthan Shanmugasundram commented on STR: CNBP_CCTG
Fetal anomalies v5.78 KIF26A Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KIF26A.
Tag Q1_25_ promote_green was removed from gene: KIF26A.
Fetal anomalies v5.78 DAW1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DAW1.
Tag Q1_25_ promote_green was removed from gene: DAW1.
Fetal anomalies v5.78 ZRSR2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ZRSR2.
Tag Q1_25_ promote_green was removed from gene: ZRSR2.
Fetal anomalies v5.78 ZFX Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ZFX.
Tag Q1_25_ promote_green was removed from gene: ZFX.
Fetal anomalies v5.78 WDR44 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: WDR44.
Tag Q1_25_ promote_green was removed from gene: WDR44.
Fetal anomalies v5.78 WBP4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: WBP4.
Tag Q1_25_ promote_green was removed from gene: WBP4.
Fetal anomalies v5.78 WASHC5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: WASHC5.
Tag Q1_25_ promote_green was removed from gene: WASHC5.
Fetal anomalies v5.78 USP14 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: USP14.
Fetal anomalies v5.78 UFSP2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: UFSP2.
Tag Q1_25_ promote_green was removed from gene: UFSP2.
Fetal anomalies v5.78 U2AF2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: U2AF2.
Tag Q1_25_ promote_green was removed from gene: U2AF2.
Fetal anomalies v5.78 TSHZ3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TSHZ3.
Tag Q1_25_ promote_green was removed from gene: TSHZ3.
Fetal anomalies v5.78 TRIT1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TRIT1.
Tag Q1_25_ promote_green was removed from gene: TRIT1.
Fetal anomalies v5.78 TONSL Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TONSL.
Tag Q1_25_ promote_green was removed from gene: TONSL.
Fetal anomalies v5.78 TOGARAM1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TOGARAM1.
Tag Q1_25_ promote_green was removed from gene: TOGARAM1.
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 TBR1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TBR1.
Tag Q1_25_ promote_green was removed from gene: TBR1.
Fetal anomalies v5.78 TAF8 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TAF8.
Tag Q1_25_ promote_green was removed from gene: TAF8.
Fetal anomalies v5.78 SNF8 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SNF8.
Tag Q1_23_promote_green was removed from gene: SNF8.
Fetal anomalies v5.78 SNAP25 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SNAP25.
Tag Q1_25_ promote_green was removed from gene: SNAP25.
Fetal anomalies v5.78 SMPD1 Achchuthan Shanmugasundram Tag Q1_25_ demote_amber was removed from gene: SMPD1.
Tag Q1_25_ NHS_review was removed from gene: SMPD1.
Fetal anomalies v5.78 SLC4A10 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SLC4A10.
Tag Q1_25_ promote_green was removed from gene: SLC4A10.
Fetal anomalies v5.78 SLC34A1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SLC34A1.
Tag Q1_25_ promote_green was removed from gene: SLC34A1.
Fetal anomalies v5.78 SLC25A4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SLC25A4.
Tag Q1_25_ promote_green was removed from gene: SLC25A4.
Fetal anomalies v5.78 SETD1A Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SETD1A.
Tag Q1_25_ promote_green was removed from gene: SETD1A.
Fetal anomalies v5.78 SCYL2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SCYL2.
Tag Q1_25_ promote_green was removed from gene: SCYL2.
Fetal anomalies v5.78 SASS6 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SASS6.
Tag Q1_25_ promote_green was removed from gene: SASS6.
Fetal anomalies v5.78 RSPRY1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RSPRY1.
Tag Q1_25_ promote_green was removed from gene: RSPRY1.
Fetal anomalies v5.78 RSPO2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RSPO2.
Tag Q1_25_ promote_green was removed from gene: RSPO2.
Fetal anomalies v5.78 RRAS Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: RRAS.
Tag Q1_25_ promote_green was removed from gene: RRAS.
Fetal anomalies v5.78 RRAGC Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RRAGC.
Tag Q1_25_ promote_green was removed from gene: RRAGC.
Fetal anomalies v5.78 RPL13 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RPL13.
Tag Q1_25_ promote_green was removed from gene: RPL13.
Fetal anomalies v5.78 ROBO1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ROBO1.
Tag Q1_24_MOI was removed from gene: ROBO1.
Fetal anomalies v5.78 RNU4-2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RNU4-2.
Tag Q1_25_ promote_green was removed from gene: RNU4-2.
Fetal anomalies v5.78 RFWD3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RFWD3.
Tag Q1_25_ promote_green was removed from gene: RFWD3.
Fetal anomalies v5.78 RAP1B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RAP1B.
Tag Q1_25_ promote_green was removed from gene: RAP1B.
Fetal anomalies v5.78 RAB34 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RAB34.
Tag Q1_25_ promote_green was removed from gene: RAB34.
Fetal anomalies v5.78 PUM1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PUM1.
Tag Q1_25_ promote_green was removed from gene: PUM1.
Fetal anomalies v5.78 PSMF1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PSMF1.
Tag Q1_25_ promote_green was removed from gene: PSMF1.
Fetal anomalies v5.78 PLS3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PLS3.
Tag Q1_25_ promote_green was removed from gene: PLS3.
Fetal anomalies v5.78 PLD1 Achchuthan Shanmugasundram Tag Q1_25_ demote_amber was removed from gene: PLD1.
Tag Q1_25_ NHS_review was removed from gene: PLD1.
Tag Q2_24_expert_review was removed from gene: PLD1.
Fetal anomalies v5.78 PKDCC Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PKDCC.
Tag Q1_25_ promote_green was removed from gene: PKDCC.
Fetal anomalies v5.78 PIP5K1C Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PIP5K1C.
Tag Q1_25_ promote_green was removed from gene: PIP5K1C.
Fetal anomalies v5.78 PIGS Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PIGS.
Tag Q1_25_ promote_green was removed from gene: PIGS.
Fetal anomalies v5.78 PI4K2A Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PI4K2A.
Tag Q1_25_ promote_green was removed from gene: PI4K2A.
Fetal anomalies v5.78 PAN2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PAN2.
Tag Q1_25_ promote_green was removed from gene: PAN2.
Fetal anomalies v5.78 NUDT2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: NUDT2.
Tag Q1_25_ promote_green was removed from gene: NUDT2.
Fetal anomalies v5.78 NSUN6 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: NSUN6.
Tag Q1_25_ promote_green was removed from gene: NSUN6.
Fetal anomalies v5.78 NLRP3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: NLRP3.
Tag Q1_25_ promote_green was removed from gene: NLRP3.
Fetal anomalies v5.78 MYBBP1A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MYBBP1A.
Tag Q3_24_NHS_review was removed from gene: MYBBP1A.
Fetal anomalies v5.78 MSTO1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: MSTO1.
Tag Q1_24_MOI was removed from gene: MSTO1.
Fetal anomalies v5.78 MDFIC Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: MDFIC.
Tag Q2_24_promote_green was removed from gene: MDFIC.
Fetal anomalies v5.78 MAX Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: MAX.
Tag Q1_25_ promote_green was removed from gene: MAX.
Fetal anomalies v5.78 MAP4K4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: MAP4K4.
Tag Q1_25_ promote_green was removed from gene: MAP4K4.
Fetal anomalies v5.78 LOX Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LOX.
Tag Q1_25_ promote_green was removed from gene: LOX.
Fetal anomalies v5.78 LNPK Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LNPK.
Tag Q1_25_ promote_green was removed from gene: LNPK.
Fetal anomalies v5.78 LIPT2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LIPT2.
Tag Q1_25_ promote_green was removed from gene: LIPT2.
Fetal anomalies v5.78 LAMB2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LAMB2.
Tag Q1_25_ promote_green was removed from gene: LAMB2.
Fetal anomalies v5.78 LAMA5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LAMA5.
Tag Q1_25_ promote_green was removed from gene: LAMA5.
Fetal anomalies v5.78 KMT2B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KMT2B.
Tag Q1_25_ promote_green was removed from gene: KMT2B.
Fetal anomalies v5.78 KIF5B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KIF5B.
Tag Q1_25_ promote_green was removed from gene: KIF5B.
Fetal anomalies v5.78 KIF24 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KIF24.
Tag Q1_25_ promote_green was removed from gene: KIF24.
Fetal anomalies v5.78 KDM2B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KDM2B.
Tag Q1_25_ promote_green was removed from gene: KDM2B.
Fetal anomalies v5.78 KDELR2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KDELR2.
Tag Q1_25_ promote_green was removed from gene: KDELR2.
Fetal anomalies v5.78 KCNK9 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: KCNK9.
Tag Q2_24_NHS_review was removed from gene: KCNK9.
Fetal anomalies v5.78 KCNK3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KCNK3.
Tag Q1_25_ promote_green was removed from gene: KCNK3.
Fetal anomalies v5.78 INTS11 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: INTS11.
Tag Q1_25_ promote_green was removed from gene: INTS11.
Fetal anomalies v5.78 HECTD4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: HECTD4.
Tag Q1_25_ promote_green was removed from gene: HECTD4.
Fetal anomalies v5.78 GON4L Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: GON4L.
Tag Q1_25_ promote_green was removed from gene: GON4L.
Fetal anomalies v5.78 GNB2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GNB2.
Tag Q2_24_NHS_review was removed from gene: GNB2.
Fetal anomalies v5.78 FUZ Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FUZ.
Tag Q1_25_ promote_green was removed from gene: FUZ.
Fetal anomalies v5.78 FTO Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FTO.
Tag Q1_25_ promote_green was removed from gene: FTO.
Fetal anomalies v5.78 FOXP4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FOXP4.
Tag Q1_25_ promote_green was removed from gene: FOXP4.
Fetal anomalies v5.78 FOSL2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FOSL2.
Tag Q1_25_ promote_green was removed from gene: FOSL2.
Fetal anomalies v5.78 FN1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FN1.
Tag Q1_25_ promote_green was removed from gene: FN1.
Fetal anomalies v5.78 FILIP1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FILIP1.
Tag Q1_25_ promote_green was removed from gene: FILIP1.
Fetal anomalies v5.78 FAS Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FAS.
Tag Q1_25_ promote_green was removed from gene: FAS.
Fetal anomalies v5.78 ERI1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ERI1.
Tag Q1_25_ promote_green was removed from gene: ERI1.
Fetal anomalies v5.78 ENG Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ENG.
Tag Q1_25_ promote_green was removed from gene: ENG.
Fetal anomalies v5.78 EMG1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: EMG1.
Tag Q1_23_promote_green was removed from gene: EMG1.
Fetal anomalies v5.78 EFCAB1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: EFCAB1.
Tag Q1_25_ promote_green was removed from gene: EFCAB1.
Fetal anomalies v5.78 DRG1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DRG1.
Tag Q1_25_ promote_green was removed from gene: DRG1.
Fetal anomalies v5.78 DPYSL5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DPYSL5.
Tag Q1_25_ promote_green was removed from gene: DPYSL5.
Fetal anomalies v5.78 DLG5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DLG5.
Tag Q1_25_ promote_green was removed from gene: DLG5.
Fetal anomalies v5.78 DHX30 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DHX30.
Tag Q1_25_ promote_green was removed from gene: DHX30.
Fetal anomalies v5.78 DDRGK1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DDRGK1.
Tag Q1_25_ promote_green was removed from gene: DDRGK1.
Fetal anomalies v5.78 CSGALNACT1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CSGALNACT1.
Tag Q1_25_ promote_green was removed from gene: CSGALNACT1.
Fetal anomalies v5.78 CNOT2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CNOT2.
Tag Q1_25_ promote_green was removed from gene: CNOT2.
Fetal anomalies v5.78 CEP295 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CEP295.
Tag Q1_25_ promote_green was removed from gene: CEP295.
Fetal anomalies v5.78 CDK10 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CDK10.
Tag Q1_25_ promote_green was removed from gene: CDK10.
Fetal anomalies v5.78 CDH2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CDH2.
Tag Q1_25_ promote_green was removed from gene: CDH2.
Fetal anomalies v5.78 CBY1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CBY1.
Tag Q1_25_ promote_green was removed from gene: CBY1.
Fetal anomalies v5.78 CASP2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CASP2.
Tag Q1_25_ promote_green was removed from gene: CASP2.
Fetal anomalies v5.78 CACNA1S Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CACNA1S.
Tag Q1_25_ promote_green was removed from gene: CACNA1S.
Fetal anomalies v5.78 C16orf62 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: C16orf62.
Tag Q1_25_ promote_green was removed from gene: C16orf62.
Fetal anomalies v5.78 ATG7 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ATG7.
Tag Q1_25_ promote_green was removed from gene: ATG7.
Fetal anomalies v5.78 ASXL3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ASXL3.
Tag Q1_25_ promote_green was removed from gene: ASXL3.
Fetal anomalies v5.78 AMOTL1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: AMOTL1.
Tag Q1_25_ promote_green was removed from gene: AMOTL1.
Fetal anomalies v5.78 AL117258.1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: AL117258.1.
Tag Q1_25_ promote_green was removed from gene: AL117258.1.
Fetal anomalies v5.78 ADD1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ADD1.
Tag Q1_25_ promote_green was removed from gene: ADD1.
Fetal anomalies v5.78 ADAMTS15 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ADAMTS15.
Tag Q1_25_ promote_green was removed from gene: ADAMTS15.
Fetal anomalies v5.78 ACBD6 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ACBD6.
Tag Q1_25_ promote_green was removed from gene: ACBD6.
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 ZRSR2 Achchuthan Shanmugasundram Source Expert Review Green was added to ZRSR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ZFX Achchuthan Shanmugasundram Source Expert Review Green was added to ZFX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 WDR44 Achchuthan Shanmugasundram Source Expert Review Green was added to WDR44.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 WBP4 Achchuthan Shanmugasundram Source Expert Review Green was added to WBP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 WASHC5 Achchuthan Shanmugasundram Source Expert Review Green was added to WASHC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 USP14 Achchuthan Shanmugasundram Source NHS GMS was added to USP14.
Source Expert Review Green was added to USP14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 UFSP2 Achchuthan Shanmugasundram Source Expert Review Green was added to UFSP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 U2AF2 Achchuthan Shanmugasundram Source Expert Review Green was added to U2AF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TSHZ3 Achchuthan Shanmugasundram Source Expert Review Green was added to TSHZ3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TRIT1 Achchuthan Shanmugasundram Source Expert Review Green was added to TRIT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TONSL Achchuthan Shanmugasundram Source Expert Review Green was added to TONSL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TOGARAM1 Achchuthan Shanmugasundram Source Expert Review Green was added to TOGARAM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 TBR1 Achchuthan Shanmugasundram Source Expert Review Green was added to TBR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TAF8 Achchuthan Shanmugasundram Source Expert Review Green was added to TAF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SNF8 Achchuthan Shanmugasundram Source Expert Review Green was added to SNF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SNAP25 Achchuthan Shanmugasundram Source Expert Review Green was added to SNAP25.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SMPD1 Achchuthan Shanmugasundram Source Expert Review Amber was added to SMPD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v5.77 SLC4A10 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC4A10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SLC34A1 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC34A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SLC25A4 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SETD1A Achchuthan Shanmugasundram Source Expert Review Green was added to SETD1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SCYL2 Achchuthan Shanmugasundram Source Expert Review Green was added to SCYL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SASS6 Achchuthan Shanmugasundram Source Expert Review Green was added to SASS6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RSPRY1 Achchuthan Shanmugasundram Source Expert Review Green was added to RSPRY1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RSPO2 Achchuthan Shanmugasundram Source Expert Review Green was added to RSPO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RRAS Achchuthan Shanmugasundram Source Expert Review Green was added to RRAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RRAGC Achchuthan Shanmugasundram Source Expert Review Green was added to RRAGC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RPL13 Achchuthan Shanmugasundram Source Expert Review Green was added to RPL13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ROBO1 Achchuthan Shanmugasundram Mode of inheritance for gene ROBO1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.77 RNU4-2 Achchuthan Shanmugasundram Source Expert Review Green was added to RNU4-2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RFWD3 Achchuthan Shanmugasundram Source Expert Review Green was added to RFWD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RAP1B Achchuthan Shanmugasundram Source Expert Review Green was added to RAP1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RAB34 Achchuthan Shanmugasundram Source Expert Review Green was added to RAB34.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PUM1 Achchuthan Shanmugasundram Source Expert Review Green was added to PUM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PSMF1 Achchuthan Shanmugasundram Source Expert Review Green was added to PSMF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PLS3 Achchuthan Shanmugasundram Source Expert Review Green was added to PLS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PLD1 Achchuthan Shanmugasundram Source Expert Review Amber was added to PLD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v5.77 PKDCC Achchuthan Shanmugasundram Source Expert Review Green was added to PKDCC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PIP5K1C Achchuthan Shanmugasundram Source Expert Review Green was added to PIP5K1C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PIGS Achchuthan Shanmugasundram Source Expert Review Green was added to PIGS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PI4K2A Achchuthan Shanmugasundram Source Expert Review Green was added to PI4K2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PAN2 Achchuthan Shanmugasundram Source Expert Review Green was added to PAN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 NUDT2 Achchuthan Shanmugasundram Source Expert Review Green was added to NUDT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 NSUN6 Achchuthan Shanmugasundram Source Expert Review Green was added to NSUN6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 NLRP3 Achchuthan Shanmugasundram Source Expert Review Green was added to NLRP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 MYBBP1A Achchuthan Shanmugasundram Source NHS GMS was added to MYBBP1A.
Source Expert Review Green was added to MYBBP1A.
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 v5.77 MDFIC Achchuthan Shanmugasundram Source Expert Review Green was added to MDFIC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 MAX Achchuthan Shanmugasundram Source Expert Review Green was added to MAX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 MAP4K4 Achchuthan Shanmugasundram Source Expert Review Green was added to MAP4K4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 LOX Achchuthan Shanmugasundram Source Expert Review Green was added to LOX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 LNPK Achchuthan Shanmugasundram Source Expert Review Green was added to LNPK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 LIPT2 Achchuthan Shanmugasundram Source Expert Review Green was added to LIPT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 LAMB2 Achchuthan Shanmugasundram Source Expert Review Green was added to LAMB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 LAMA5 Achchuthan Shanmugasundram Source Expert Review Green was added to LAMA5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KMT2B Achchuthan Shanmugasundram Source Expert Review Green was added to KMT2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KIF5B Achchuthan Shanmugasundram Source Expert Review Green was added to KIF5B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KIF26A Achchuthan Shanmugasundram Source Expert Review Green was added to KIF26A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KIF24 Achchuthan Shanmugasundram Source Expert Review Green was added to KIF24.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KDM2B Achchuthan Shanmugasundram Source Expert Review Green was added to KDM2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KDELR2 Achchuthan Shanmugasundram Source Expert Review Green was added to KDELR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KCNK9 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNK9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KCNK3 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KCNC3 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 INTS11 Achchuthan Shanmugasundram Source Expert Review Green was added to INTS11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 HECTD4 Achchuthan Shanmugasundram Source Expert Review Green was added to HECTD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 GON4L Achchuthan Shanmugasundram Source Expert Review Green was added to GON4L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 GNB2 Achchuthan Shanmugasundram Source Expert Review Green was added to GNB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FUZ Achchuthan Shanmugasundram Source Expert Review Green was added to FUZ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FTO Achchuthan Shanmugasundram Source Expert Review Green was added to FTO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FOXP4 Achchuthan Shanmugasundram Source Expert Review Green was added to FOXP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FOSL2 Achchuthan Shanmugasundram Source Expert Review Green was added to FOSL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FN1 Achchuthan Shanmugasundram Source Expert Review Green was added to FN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FILIP1 Achchuthan Shanmugasundram Source Expert Review Green was added to FILIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FAS Achchuthan Shanmugasundram Source Expert Review Green was added to FAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ESAM Achchuthan Shanmugasundram Source Expert Review Green was added to ESAM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ERI1 Achchuthan Shanmugasundram Source Expert Review Green was added to ERI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ENG Achchuthan Shanmugasundram Source Expert Review Green was added to ENG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 EMG1 Achchuthan Shanmugasundram Source Expert Review Green was added to EMG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 EFCAB1 Achchuthan Shanmugasundram Source Expert Review Green was added to EFCAB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DRG1 Achchuthan Shanmugasundram Source Expert Review Green was added to DRG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DPYSL5 Achchuthan Shanmugasundram Source Expert Review Green was added to DPYSL5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DLG5 Achchuthan Shanmugasundram Source Expert Review Green was added to DLG5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DHX30 Achchuthan Shanmugasundram Source Expert Review Green was added to DHX30.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DDRGK1 Achchuthan Shanmugasundram Source Expert Review Green was added to DDRGK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DAW1 Achchuthan Shanmugasundram Source Expert Review Green was added to DAW1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CSGALNACT1 Achchuthan Shanmugasundram Source Expert Review Green was added to CSGALNACT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CNOT2 Achchuthan Shanmugasundram Source Expert Review Green was added to CNOT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CEP295 Achchuthan Shanmugasundram Source Expert Review Green was added to CEP295.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CDK10 Achchuthan Shanmugasundram Source Expert Review Green was added to CDK10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CDH2 Achchuthan Shanmugasundram Source Expert Review Green was added to CDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CBY1 Achchuthan Shanmugasundram Source Expert Review Green was added to CBY1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CASP2 Achchuthan Shanmugasundram Source Expert Review Green was added to CASP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CACNA1S Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1S.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 C16orf62 Achchuthan Shanmugasundram Source Expert Review Green was added to C16orf62.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ATG7 Achchuthan Shanmugasundram Source Expert Review Green was added to ATG7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ASXL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ASXL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 AMOTL1 Achchuthan Shanmugasundram Source Expert Review Green was added to AMOTL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 AL117258.1 Achchuthan Shanmugasundram Source Expert Review Green was added to AL117258.1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ADD1 Achchuthan Shanmugasundram Source Expert Review Green was added to ADD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ADAMTS15 Achchuthan Shanmugasundram Source Expert Review Green was added to ADAMTS15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ACBD6 Achchuthan Shanmugasundram Source Expert Review Green was added to ACBD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.76 DRC1 Achchuthan Shanmugasundram commented on gene: DRC1
Fetal anomalies v5.76 DPYSL5 Achchuthan Shanmugasundram commented on gene: DPYSL5
Fetal anomalies v5.76 DOHH Achchuthan Shanmugasundram commented on gene: DOHH
Fetal anomalies v5.76 DLX3 Achchuthan Shanmugasundram commented on gene: DLX3
Fetal anomalies v5.76 DLG5 Achchuthan Shanmugasundram commented on gene: DLG5
Fetal anomalies v5.76 DLG4 Achchuthan Shanmugasundram commented on gene: DLG4
Fetal anomalies v5.76 DHX30 Achchuthan Shanmugasundram commented on gene: DHX30
Fetal anomalies v5.76 DDRGK1 Achchuthan Shanmugasundram commented on gene: DDRGK1
Fetal anomalies v5.76 DCDC2 Achchuthan Shanmugasundram commented on gene: DCDC2
Fetal anomalies v5.76 DAW1 Achchuthan Shanmugasundram commented on gene: DAW1
Fetal anomalies v5.76 CYP2R1 Achchuthan Shanmugasundram commented on gene: CYP2R1
Fetal anomalies v5.76 CYP27B1 Achchuthan Shanmugasundram commented on gene: CYP27B1
Fetal anomalies v5.76 CYB5R3 Achchuthan Shanmugasundram commented on gene: CYB5R3
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 ROBO1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ROBO1.
Fetal anomalies v5.74 MSTO1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: MSTO1.
Fetal anomalies v5.74 SMPD1 Achchuthan Shanmugasundram Tag Q1_25_ demote_amber tag was added to gene: SMPD1.
Tag Q1_25_ NHS_review tag was added to gene: SMPD1.
Fetal anomalies v5.74 PLD1 Achchuthan Shanmugasundram Tag Q2_24_demote_red was removed from gene: PLD1.
Tag Q1_25_ demote_amber tag was added to gene: PLD1.
Tag Q1_25_ NHS_review tag was added to gene: PLD1.
Fetal anomalies v5.74 ZRSR2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ZRSR2.
Tag Q1_25_ promote_green tag was added to gene: ZRSR2.
Fetal anomalies v5.74 WDR44 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: WDR44.
Tag Q1_25_ promote_green tag was added to gene: WDR44.
Fetal anomalies v5.74 ZFX Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ZFX.
Tag Q1_25_ promote_green tag was added to gene: ZFX.
Fetal anomalies v5.74 WBP4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: WBP4.
Tag Q1_25_ promote_green tag was added to gene: WBP4.
Fetal anomalies v5.74 WASHC5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: WASHC5.
Tag Q1_25_ promote_green tag was added to gene: WASHC5.
Fetal anomalies v5.74 UFSP2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: UFSP2.
Tag Q1_25_ promote_green tag was added to gene: UFSP2.
Fetal anomalies v5.74 U2AF2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: U2AF2.
Tag Q1_25_ promote_green tag was added to gene: U2AF2.
Fetal anomalies v5.74 TSHZ3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: TSHZ3.
Tag Q1_25_ promote_green tag was added to gene: TSHZ3.
Fetal anomalies v5.74 TRIT1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: TRIT1.
Tag Q1_25_ promote_green tag was added to gene: TRIT1.
Fetal anomalies v5.74 TONSL Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: TONSL.
Tag Q1_25_ promote_green tag was added to gene: TONSL.
Fetal anomalies v5.74 TOGARAM1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: TOGARAM1.
Tag Q1_25_ promote_green tag was added to gene: TOGARAM1.
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 TBR1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: TBR1.
Tag Q1_25_ promote_green tag was added to gene: TBR1.
Fetal anomalies v5.74 TAF8 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: TAF8.
Tag Q1_25_ promote_green tag was added to gene: TAF8.
Fetal anomalies v5.74 SNF8 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SNF8.
Tag Q1_23_promote_green tag was added to gene: SNF8.
Fetal anomalies v5.74 SNAP25 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SNAP25.
Tag Q1_25_ promote_green tag was added to gene: SNAP25.
Fetal anomalies v5.74 SLC4A10 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SLC4A10.
Tag Q1_25_ promote_green tag was added to gene: SLC4A10.
Fetal anomalies v5.74 SLC34A1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SLC34A1.
Tag Q1_25_ promote_green tag was added to gene: SLC34A1.
Fetal anomalies v5.74 SLC25A4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SLC25A4.
Tag Q1_25_ promote_green tag was added to gene: SLC25A4.
Fetal anomalies v5.74 SETD1A Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SETD1A.
Tag Q1_25_ promote_green tag was added to gene: SETD1A.
Fetal anomalies v5.74 SCYL2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SCYL2.
Tag Q1_25_ promote_green tag was added to gene: SCYL2.
Fetal anomalies v5.74 SASS6 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SASS6.
Tag Q1_25_ promote_green tag was added to gene: SASS6.
Fetal anomalies v5.74 RSPRY1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RSPRY1.
Tag Q1_25_ promote_green tag was added to gene: RSPRY1.
Fetal anomalies v5.74 RSPO2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RSPO2.
Tag Q1_25_ promote_green tag was added to gene: RSPO2.
Fetal anomalies v5.74 RRAS Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: RRAS.
Fetal anomalies v5.74 RRAGC Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RRAGC.
Tag Q1_25_ promote_green tag was added to gene: RRAGC.
Fetal anomalies v5.74 RPL13 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RPL13.
Tag Q1_25_ promote_green tag was added to gene: RPL13.
Fetal anomalies v5.74 RNU4-2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RNU4-2.
Tag Q1_25_ promote_green tag was added to gene: RNU4-2.
Fetal anomalies v5.74 RFWD3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RFWD3.
Tag Q1_25_ promote_green tag was added to gene: RFWD3.
Fetal anomalies v5.74 RAP1B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RAP1B.
Tag Q1_25_ promote_green tag was added to gene: RAP1B.
Fetal anomalies v5.74 RAB34 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RAB34.
Tag Q1_25_ promote_green tag was added to gene: RAB34.
Fetal anomalies v5.74 PUM1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PUM1.
Tag Q1_25_ promote_green tag was added to gene: PUM1.
Fetal anomalies v5.74 PSMF1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PSMF1.
Tag Q1_25_ promote_green tag was added to gene: PSMF1.
Fetal anomalies v5.74 PLS3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PLS3.
Tag Q1_25_ promote_green tag was added to gene: PLS3.
Fetal anomalies v5.74 PKDCC Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PKDCC.
Tag Q1_25_ promote_green tag was added to gene: PKDCC.
Fetal anomalies v5.74 PIP5K1C Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: PIP5K1C.
Tag Q1_25_ promote_green tag was added to gene: PIP5K1C.
Fetal anomalies v5.74 PIP5K1C Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PIP5K1C.
Tag Q1_23_promote_green tag was added to gene: PIP5K1C.
Fetal anomalies v5.74 PIGS Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PIGS.
Tag Q1_25_ promote_green tag was added to gene: PIGS.
Fetal anomalies v5.74 PI4K2A Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PI4K2A.
Tag Q1_25_ promote_green tag was added to gene: PI4K2A.
Fetal anomalies v5.74 PAN2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PAN2.
Tag Q1_25_ promote_green tag was added to gene: PAN2.
Fetal anomalies v5.74 NUDT2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: NUDT2.
Tag Q1_25_ promote_green tag was added to gene: NUDT2.
Fetal anomalies v5.74 NSUN6 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: NSUN6.
Tag Q1_25_ promote_green tag was added to gene: NSUN6.
Fetal anomalies v5.74 NLRP3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: NLRP3.
Tag Q1_25_ promote_green tag was added to gene: NLRP3.
Fetal anomalies v5.74 MDFIC Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: MDFIC.
Fetal anomalies v5.74 MAX Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: MAX.
Tag Q1_25_ promote_green tag was added to gene: MAX.
Fetal anomalies v5.74 MAP4K4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: MAP4K4.
Tag Q1_25_ promote_green tag was added to gene: MAP4K4.
Fetal anomalies v5.74 LOX Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: LOX.
Tag Q1_25_ promote_green tag was added to gene: LOX.
Fetal anomalies v5.74 LNPK Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: LNPK.
Tag Q1_25_ promote_green tag was added to gene: LNPK.
Fetal anomalies v5.74 LIPT2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: LIPT2.
Tag Q1_25_ promote_green tag was added to gene: LIPT2.
Fetal anomalies v5.74 LAMB2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: LAMB2.
Tag Q1_25_ promote_green tag was added to gene: LAMB2.
Fetal anomalies v5.74 LAMA5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: LAMA5.
Tag Q1_25_ promote_green tag was added to gene: LAMA5.
Fetal anomalies v5.74 KMT2B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KMT2B.
Tag Q1_25_ promote_green tag was added to gene: KMT2B.
Fetal anomalies v5.74 KIF5B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KIF5B.
Tag Q1_25_ promote_green tag was added to gene: KIF5B.
Fetal anomalies v5.74 KIF26A Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KIF26A.
Tag Q1_25_ promote_green tag was added to gene: KIF26A.
Fetal anomalies v5.74 KIF24 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KIF24.
Tag Q1_25_ promote_green tag was added to gene: KIF24.
Fetal anomalies v5.74 KDM2B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KDM2B.
Tag Q1_25_ promote_green tag was added to gene: KDM2B.
Fetal anomalies v5.74 KDELR2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KDELR2.
Tag Q1_25_ promote_green tag was added to gene: KDELR2.
Fetal anomalies v5.74 KCNK3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KCNK3.
Tag Q1_25_ promote_green tag was added to gene: KCNK3.
Fetal anomalies v5.74 INTS11 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: INTS11.
Tag Q1_25_ promote_green tag was added to gene: INTS11.
Fetal anomalies v5.74 HECTD4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: HECTD4.
Tag Q1_25_ promote_green tag was added to gene: HECTD4.
Fetal anomalies v5.74 GON4L Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: GON4L.
Tag Q1_25_ promote_green tag was added to gene: GON4L.
Fetal anomalies v5.74 FUZ Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: FUZ.
Tag Q1_25_ promote_green tag was added to gene: FUZ.
Fetal anomalies v5.74 FTO Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: FTO.
Tag Q1_25_ promote_green tag was added to gene: FTO.
Fetal anomalies v5.74 FOXP4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: FOXP4.
Tag Q1_25_ promote_green tag was added to gene: FOXP4.
Fetal anomalies v5.74 FOSL2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: FOSL2.
Tag Q1_25_ promote_green tag was added to gene: FOSL2.
Fetal anomalies v5.74 FN1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: FN1.
Tag Q1_25_ promote_green tag was added to gene: FN1.
Fetal anomalies v5.74 FILIP1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: FILIP1.
Tag Q1_25_ promote_green tag was added to gene: FILIP1.
Fetal anomalies v5.74 FAS Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: FAS.
Tag Q1_25_ promote_green tag was added to gene: FAS.
Fetal anomalies v5.74 ERI1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ERI1.
Tag Q1_25_ promote_green tag was added to gene: ERI1.
Fetal anomalies v5.74 ENG Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ENG.
Tag Q1_25_ promote_green tag was added to gene: ENG.
Fetal anomalies v5.74 EMG1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: EMG1.
Tag Q1_25_ NHS_review tag was added to gene: EMG1.
Tag Q1_23_promote_green tag was added to gene: EMG1.
Fetal anomalies v5.74 EFCAB1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: EFCAB1.
Tag Q1_25_ promote_green tag was added to gene: EFCAB1.
Fetal anomalies v5.74 DRG1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: DRG1.
Tag Q1_25_ promote_green tag was added to gene: DRG1.
Fetal anomalies v5.74 DPYSL5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: DPYSL5.
Tag Q1_25_ promote_green tag was added to gene: DPYSL5.
Fetal anomalies v5.74 DLG5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: DLG5.
Tag Q1_25_ promote_green tag was added to gene: DLG5.
Fetal anomalies v5.74 DHX30 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: DHX30.
Tag Q1_25_ promote_green tag was added to gene: DHX30.
Fetal anomalies v5.74 DDRGK1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: DDRGK1.
Tag Q1_25_ promote_green tag was added to gene: DDRGK1.
Fetal anomalies v5.74 CSGALNACT1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CSGALNACT1.
Fetal anomalies v5.74 CNOT2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CNOT2.
Fetal anomalies v5.74 CEP295 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CEP295.
Fetal anomalies v5.74 CDK10 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CDK10.
Fetal anomalies v5.74 CDH2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CDH2.
Fetal anomalies v5.74 CBY1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CBY1.
Fetal anomalies v5.74 CASP2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CASP2.
Fetal anomalies v5.74 CACNA1S Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CACNA1S.
Fetal anomalies v5.74 C16orf62 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: C16orf62.
Fetal anomalies v5.74 ATG7 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ATG7.
Fetal anomalies v5.74 ASXL3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ASXL3.
Fetal anomalies v5.74 AMOTL1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: AMOTL1.
Fetal anomalies v5.74 AL117258.1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: AL117258.1.
Fetal anomalies v5.74 ADD1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ADD1.
Fetal anomalies v5.74 ADAMTS15 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ADAMTS15.
Fetal anomalies v5.74 ACBD6 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ACBD6.
Fetal anomalies v5.74 DAW1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: DAW1.
Fetal anomalies v5.74 DAW1 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: DAW1.
Fetal anomalies v5.74 CSGALNACT1 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CSGALNACT1.
Fetal anomalies v5.74 CNOT2 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CNOT2.
Fetal anomalies v5.74 CEP295 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CEP295.
Fetal anomalies v5.74 CDK10 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CDK10.
Fetal anomalies v5.74 CDH2 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CDH2.
Fetal anomalies v5.74 CBY1 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CBY1.
Fetal anomalies v5.74 CASP2 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CASP2.
Fetal anomalies v5.74 CACNA1S Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CACNA1S.
Fetal anomalies v5.74 C16orf62 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: C16orf62.
Fetal anomalies v5.74 ATG7 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: ATG7.
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 ASXL3 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: ASXL3.
Fetal anomalies v5.73 AMOTL1 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: AMOTL1.
Fetal anomalies v5.73 AL117258.1 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: AL117258.1.
Fetal anomalies v5.73 ADD1 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: ADD1.
Fetal anomalies v5.73 ADAMTS15 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: ADAMTS15.
Fetal anomalies v5.73 ACBD6 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: ACBD6.
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 v5.72 WASHC5 Achchuthan Shanmugasundram Phenotypes for gene: WASHC5 were changed from Ritscher-Schinzel syndrome 1 220210; Ritscher-Schinzel syndrome 1, OMIM:220210; Spastic paraplegia 8, autosomal dominant 603563 to Ritscher-Schinzel syndrome 1, OMIM:220210
Fetal anomalies v5.71 TUFM Achchuthan Shanmugasundram Phenotypes for gene: TUFM were changed from Combined oxidative phosphorylation deficiency 4, OMIM:610678; COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 to Combined oxidative phosphorylation deficiency 4, OMIM:610678
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 v5.68 TNFRSF13B Achchuthan Shanmugasundram Phenotypes for gene: TNFRSF13B were changed from Immunodeficiency, common variable, 2, OMIM:240500; IMMUNODEFICIENCY, COMMON VARIABLE, 2 to Immunodeficiency, common variable, 2, OMIM:240500
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 v5.63 STAG1 Achchuthan Shanmugasundram Phenotypes for gene: STAG1 were changed from Intellectual developmental disorder, autosomal dominant 47, OMIM:617635; STAG1 syndromic intellectual disability to Intellectual developmental disorder, autosomal dominant 47, OMIM:617635
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 v5.61 SMPD1 Achchuthan Shanmugasundram Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type B, OMIM:607616; NIEMANN-PICK DISEASE TYPE A; NIEMANN-PICK DISEASE TYPE B; Niemann-Pick disease, type A, OMIM:257200 to Niemann-Pick disease, type B, OMIM:607616; Niemann-Pick disease, type A, OMIM:257200
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 v5.59 SLC35A1 Achchuthan Shanmugasundram Phenotypes for gene: SLC35A1 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION; Congenital disorder of glycosylation, type IIf, OMIM:603585 to Congenital disorder of glycosylation, type IIf, OMIM:603585
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 v5.57 SLC24A4 Achchuthan Shanmugasundram Phenotypes for gene: SLC24A4 were changed from Amelogenesis imperfecta, type IIA5, OMIM:615887; AMELOGENESIS IMPERFECTA. to Amelogenesis imperfecta, type IIA5, OMIM:615887
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 v5.55 SASS6 Achchuthan Shanmugasundram Phenotypes for gene: SASS6 were changed from Microcephaly 14, primary, autosomal recessive, OMIM:616402; ?Microcephaly 14, primary, autosomal recessive 616402 to Microcephaly 14, primary, autosomal recessive, OMIM:616402
Fetal anomalies v5.54 RSPRY1 Achchuthan Shanmugasundram Phenotypes for gene: RSPRY1 were changed from PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA; Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723
Fetal anomalies v5.53 RRAS Achchuthan Shanmugasundram Phenotypes for gene: RRAS were changed from Noonan syndrome, MONDO:0018997; RRAS-related atypical Noonan syndrome to Noonan syndrome, MONDO:0018997
Fetal anomalies v5.52 NUAK2 Achchuthan Shanmugasundram Phenotypes for gene: NUAK2 were changed from Anencephaly; ?Anencephaly 2, OMIM:619452 to ?Anencephaly 2, OMIM:619452
Fetal anomalies v5.51 NHP2 Achchuthan Shanmugasundram Phenotypes for gene: NHP2 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; Dyskeratosis congenita, autosomal recessive 2, OMIM:613987 to Dyskeratosis congenita, autosomal recessive 2, OMIM:613987
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 v5.49 LRAT Achchuthan Shanmugasundram Phenotypes for gene: LRAT were changed from Leber congenital amaurosis 14, OMIM:613341; LEBER CONGENITAL AMAUROSIS to Leber congenital amaurosis 14, OMIM:613341
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 v5.44 KCNJ6 Achchuthan Shanmugasundram Phenotypes for gene: KCNJ6 were changed from Keppen-Lubinsky syndrome, OMIM:614098; KEPPEN-LUBINSKY SYNDROME to Keppen-Lubinsky syndrome, OMIM:614098
Fetal anomalies v5.43 KCNC3 Achchuthan Shanmugasundram Phenotypes for gene: KCNC3 were changed from Spinocerebellar ataxia 13, OMIM:605259; SPINOCEREBELLAR ATAXIA TYPE 13 to Spinocerebellar ataxia 13, OMIM:605259
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 v5.39 GNAQ Achchuthan Shanmugasundram Phenotypes for gene: GNAQ were changed from Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Congenital Hemangioma; Capillary malformations, congenital, 1, somatic, mosaic, OMIM:163000 to Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Capillary malformations, congenital, 1, somatic, mosaic, OMIM:163000
Fetal anomalies v5.38 GNA11 Achchuthan Shanmugasundram Phenotypes for gene: GNA11 were changed from Congenital Hemangioma; Hypocalciuric hypercalcemia, type II, OMIM:145981; Hypocalcemia, autosomal dominant 2, OMIM:615361 to Hypocalciuric hypercalcemia, type II, OMIM:145981; Hypocalcemia, autosomal dominant 2, OMIM:615361
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 v5.32 DRC1 Achchuthan Shanmugasundram Phenotypes for gene: DRC1 were changed from Ciliary dyskinesia, primary, 21, OMIM:615294; PRIMARY CILARY DYSKINEASIA to Ciliary dyskinesia, primary, 21, OMIM:615294
Fetal anomalies v5.31 DLG4 Achchuthan Shanmugasundram Phenotypes for gene: DLG4 were changed from DLG4 related intellectual disability; Intellectual developmental disorder, autosomal dominant 62, OMIM:618793 to Intellectual developmental disorder, autosomal dominant 62, OMIM:618793
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 v5.27 CRELD1 Achchuthan Shanmugasundram Phenotypes for gene: CRELD1 were changed from Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771; HETEROTAXY SYNDROME to Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771
Fetal anomalies v5.26 CLPP Achchuthan Shanmugasundram Phenotypes for gene: CLPP were changed from Perrault syndrome 3, OMIM:614129; PERRAULT SYNDROME to Perrault syndrome 3, OMIM:614129
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 v5.24 CHD3 Achchuthan Shanmugasundram Phenotypes for gene: CHD3 were changed from Apraxia of speech; Snijders Blok-Campeau syndrome, OMIM:618205 to Snijders Blok-Campeau syndrome, OMIM:618205
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 v5.21 CAMK2B Achchuthan Shanmugasundram Phenotypes for gene: CAMK2B were changed from INTELLECTUAL DISABILITY; Intellectual developmental disorder, autosomal dominant 54, OMIM:617799 to Intellectual developmental disorder, autosomal dominant 54, OMIM:617799
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 v5.17 ALG11 Achchuthan Shanmugasundram Phenotypes for gene: ALG11 were changed from ALG11-CDG; Congenital disorder of glycosylation, type Ip, OMIM:613661 to Congenital disorder of glycosylation, type Ip, OMIM:613661
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 C16orf62 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: C16orf62.
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 AL117258.1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: AL117258.1.
Fetal anomalies v5.16 ZSCAN10 Achchuthan Shanmugasundram commented on gene: ZSCAN10
Fetal anomalies v5.16 ZRSR2 Achchuthan Shanmugasundram commented on gene: ZRSR2
Fetal anomalies v5.16 ZNF750 Achchuthan Shanmugasundram commented on gene: ZNF750
Fetal anomalies v5.16 ZNF687 Achchuthan Shanmugasundram commented on gene: ZNF687
Fetal anomalies v5.16 ZNF423 Achchuthan Shanmugasundram commented on gene: ZNF423
Fetal anomalies v5.16 ZMYND8 Achchuthan Shanmugasundram commented on gene: ZMYND8
Fetal anomalies v5.16 ZFX Achchuthan Shanmugasundram commented on gene: ZFX
Fetal anomalies v5.16 XPNPEP3 Achchuthan Shanmugasundram commented on gene: XPNPEP3
Fetal anomalies v5.16 WNT9B Achchuthan Shanmugasundram commented on gene: WNT9B
Fetal anomalies v5.16 WISP3 Achchuthan Shanmugasundram commented on gene: WISP3
Fetal anomalies v5.16 WDR44 Achchuthan Shanmugasundram commented on gene: WDR44
Fetal anomalies v5.16 WBP4 Achchuthan Shanmugasundram commented on gene: WBP4
Fetal anomalies v5.16 WASHC5 Achchuthan Shanmugasundram commented on gene: WASHC5
Fetal anomalies v5.16 VHL Achchuthan Shanmugasundram commented on gene: VHL
Fetal anomalies v5.16 UQCC2 Achchuthan Shanmugasundram commented on gene: UQCC2
Fetal anomalies v5.16 UNC45A Achchuthan Shanmugasundram commented on gene: UNC45A
Fetal anomalies v5.16 UFSP2 Achchuthan Shanmugasundram commented on gene: UFSP2
Fetal anomalies v5.16 U2AF2 Achchuthan Shanmugasundram commented on gene: U2AF2
Fetal anomalies v5.16 TYROBP Achchuthan Shanmugasundram commented on gene: TYROBP
Fetal anomalies v5.16 TULP3 Achchuthan Shanmugasundram commented on gene: TULP3
Fetal anomalies v5.16 TUFM Achchuthan Shanmugasundram commented on gene: TUFM
Fetal anomalies v5.16 TTC25 Achchuthan Shanmugasundram commented on gene: TTC25
Fetal anomalies v5.16 TSHZ3 Achchuthan Shanmugasundram commented on gene: TSHZ3
Fetal anomalies v5.16 TRPM7 Achchuthan Shanmugasundram commented on gene: TRPM7
Fetal anomalies v5.16 TRIT1 Achchuthan Shanmugasundram commented on gene: TRIT1
Fetal anomalies v5.16 TREM2 Achchuthan Shanmugasundram commented on gene: TREM2
Fetal anomalies v5.16 TONSL Achchuthan Shanmugasundram commented on gene: TONSL
Fetal anomalies v5.16 TOMM7 Achchuthan Shanmugasundram commented on gene: TOMM7
Fetal anomalies v5.16 TOGARAM1 Achchuthan Shanmugasundram commented on gene: TOGARAM1
Fetal anomalies v5.16 TNRC6B Achchuthan Shanmugasundram commented on gene: TNRC6B
Fetal anomalies v5.16 TNFSF11 Achchuthan Shanmugasundram commented on gene: TNFSF11
Fetal anomalies v5.16 TNFRSF13B Achchuthan Shanmugasundram commented on gene: TNFRSF13B
Fetal anomalies v5.16 THSD1 Achchuthan Shanmugasundram commented on gene: THSD1
Fetal anomalies v5.16 TBR1 Achchuthan Shanmugasundram commented on gene: TBR1
Fetal anomalies v5.16 TAF8 Achchuthan Shanmugasundram commented on gene: TAF8
Fetal anomalies v5.16 TACR3 Achchuthan Shanmugasundram commented on gene: TACR3
Fetal anomalies v5.16 TAC3 Achchuthan Shanmugasundram commented on gene: TAC3
Fetal anomalies v5.16 STX5 Achchuthan Shanmugasundram commented on gene: STX5
Fetal anomalies v5.16 STAG1 Achchuthan Shanmugasundram commented on gene: STAG1
Fetal anomalies v5.16 SPIN4 Achchuthan Shanmugasundram commented on gene: SPIN4
Fetal anomalies v5.16 SNUPN Achchuthan Shanmugasundram commented on gene: SNUPN
Fetal anomalies v5.16 SNRPE Achchuthan Shanmugasundram commented on gene: SNRPE
Fetal anomalies v5.16 SNF8 Achchuthan Shanmugasundram commented on gene: SNF8
Fetal anomalies v5.16 SNAP25 Achchuthan Shanmugasundram commented on gene: SNAP25
Fetal anomalies v5.16 SMPD1 Achchuthan Shanmugasundram commented on gene: SMPD1
Fetal anomalies v5.16 SMOC2 Achchuthan Shanmugasundram commented on gene: SMOC2
Fetal anomalies v5.16 SLCO2A1 Achchuthan Shanmugasundram commented on gene: SLCO2A1
Fetal anomalies v5.16 SLC4A10 Achchuthan Shanmugasundram commented on gene: SLC4A10
Fetal anomalies v5.16 SLC35A1 Achchuthan Shanmugasundram commented on gene: SLC35A1
Fetal anomalies v5.16 SLC34A3 Achchuthan Shanmugasundram commented on gene: SLC34A3
Fetal anomalies v5.16 SLC34A1 Achchuthan Shanmugasundram commented on gene: SLC34A1
Fetal anomalies v5.16 SLC30A7 Achchuthan Shanmugasundram commented on gene: SLC30A7
Fetal anomalies v5.16 SLC25A4 Achchuthan Shanmugasundram commented on gene: SLC25A4
Fetal anomalies v5.16 SLC24A4 Achchuthan Shanmugasundram commented on gene: SLC24A4
Fetal anomalies v5.16 SIAH1 Achchuthan Shanmugasundram commented on gene: SIAH1
Fetal anomalies v5.16 SHROOM4 Achchuthan Shanmugasundram commented on gene: SHROOM4
Fetal anomalies v5.16 SHROOM3 Achchuthan Shanmugasundram commented on gene: SHROOM3
Fetal anomalies v5.16 SH3BP2 Achchuthan Shanmugasundram commented on gene: SH3BP2
Fetal anomalies v5.16 SGMS2 Achchuthan Shanmugasundram commented on gene: SGMS2
Fetal anomalies v5.16 SFRP4 Achchuthan Shanmugasundram commented on gene: SFRP4
Fetal anomalies v5.16 SETD1A Achchuthan Shanmugasundram commented on gene: SETD1A
Fetal anomalies v5.16 SCYL2 Achchuthan Shanmugasundram commented on gene: SCYL2
Fetal anomalies v5.16 SASS6 Achchuthan Shanmugasundram commented on gene: SASS6
Fetal anomalies v5.16 RSPRY1 Achchuthan Shanmugasundram commented on gene: RSPRY1
Fetal anomalies v5.16 RSPO2 Achchuthan Shanmugasundram commented on gene: RSPO2
Fetal anomalies v5.16 RRAS Achchuthan Shanmugasundram commented on gene: RRAS
Fetal anomalies v5.16 RRAGC Achchuthan Shanmugasundram commented on gene: RRAGC
Fetal anomalies v5.16 RPL13 Achchuthan Shanmugasundram commented on gene: RPL13
Fetal anomalies v5.16 ROBO2 Achchuthan Shanmugasundram commented on gene: ROBO2
Fetal anomalies v5.16 ROBO1 Achchuthan Shanmugasundram commented on gene: ROBO1
Fetal anomalies v5.16 RNU4-2 Achchuthan Shanmugasundram commented on gene: RNU4-2
Fetal anomalies v5.16 RINT1 Achchuthan Shanmugasundram commented on gene: RINT1
Fetal anomalies v5.16 RFWD3 Achchuthan Shanmugasundram commented on gene: RFWD3
Fetal anomalies v5.16 RASGRP2 Achchuthan Shanmugasundram commented on gene: RASGRP2
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 RAB34 Achchuthan Shanmugasundram commented on gene: RAB34
Fetal anomalies v5.16 PUM1 Achchuthan Shanmugasundram commented on gene: PUM1
Fetal anomalies v5.16 PSMF1 Achchuthan Shanmugasundram commented on gene: PSMF1
Fetal anomalies v5.16 PSMC3 Achchuthan Shanmugasundram commented on gene: PSMC3
Fetal anomalies v5.16 PSMB9 Achchuthan Shanmugasundram commented on gene: PSMB9
Fetal anomalies v5.16 PRKG2 Achchuthan Shanmugasundram commented on gene: PRKG2
Fetal anomalies v5.16 PRKCSH Achchuthan Shanmugasundram commented on gene: PRKCSH
Fetal anomalies v5.16 PLS3 Achchuthan Shanmugasundram commented on gene: PLS3
Fetal anomalies v5.16 PLD1 Achchuthan Shanmugasundram commented on gene: PLD1
Fetal anomalies v5.16 PKDCC Achchuthan Shanmugasundram commented on gene: PKDCC
Fetal anomalies v5.16 PISD Achchuthan Shanmugasundram commented on gene: PISD
Fetal anomalies v5.16 PIP5K1C Achchuthan Shanmugasundram commented on gene: PIP5K1C
Fetal anomalies v5.16 PIGY Achchuthan Shanmugasundram commented on gene: PIGY
Fetal anomalies v5.16 PIGS Achchuthan Shanmugasundram commented on gene: PIGS
Fetal anomalies v5.16 PIGG Achchuthan Shanmugasundram commented on gene: PIGG
Fetal anomalies v5.16 PI4K2A Achchuthan Shanmugasundram commented on gene: PI4K2A
Fetal anomalies v5.16 PHLDB1 Achchuthan Shanmugasundram commented on gene: PHLDB1
Fetal anomalies v5.16 PAN2 Achchuthan Shanmugasundram commented on gene: PAN2
Fetal anomalies v5.16 NUP214 Achchuthan Shanmugasundram commented on gene: NUP214
Fetal anomalies v5.16 NUDT2 Achchuthan Shanmugasundram commented on gene: NUDT2
Fetal anomalies v5.16 NUAK2 Achchuthan Shanmugasundram commented on gene: NUAK2
Fetal anomalies v5.16 NSUN6 Achchuthan Shanmugasundram commented on gene: NSUN6
Fetal anomalies v5.16 NSUN2 Achchuthan Shanmugasundram commented on gene: NSUN2
Fetal anomalies v5.16 NPR3 Achchuthan Shanmugasundram commented on gene: NPR3
Fetal anomalies v5.16 NPNT Achchuthan Shanmugasundram commented on gene: NPNT
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 NHP2 Achchuthan Shanmugasundram commented on gene: NHP2
Fetal anomalies v5.16 NARS Achchuthan Shanmugasundram commented on gene: NARS
Fetal anomalies v5.16 MSTO1 Achchuthan Shanmugasundram commented on gene: MSTO1
Fetal anomalies v5.16 MMP2 Achchuthan Shanmugasundram commented on gene: MMP2
Fetal anomalies v5.16 MMP15 Achchuthan Shanmugasundram commented on gene: MMP15
Fetal anomalies v5.16 MIR17HG Achchuthan Shanmugasundram commented on gene: MIR17HG
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 MBOAT7 Achchuthan Shanmugasundram commented on gene: MBOAT7
Fetal anomalies v5.16 MAX Achchuthan Shanmugasundram commented on gene: MAX
Fetal anomalies v5.16 MAPKBP1 Achchuthan Shanmugasundram commented on gene: MAPKBP1
Fetal anomalies v5.16 MAP4K4 Achchuthan Shanmugasundram commented on gene: MAP4K4
Fetal anomalies v5.16 LSM11 Achchuthan Shanmugasundram commented on gene: LSM11
Fetal anomalies v5.16 LRRK1 Achchuthan Shanmugasundram commented on gene: LRRK1
Fetal anomalies v5.16 LRIG2 Achchuthan Shanmugasundram commented on gene: LRIG2
Fetal anomalies v5.16 LRBA Achchuthan Shanmugasundram commented on gene: LRBA
Fetal anomalies v5.16 LRAT Achchuthan Shanmugasundram commented on gene: LRAT
Fetal anomalies v5.16 LPIN2 Achchuthan Shanmugasundram commented on gene: LPIN2
Fetal anomalies v5.16 LOX Achchuthan Shanmugasundram commented on gene: LOX
Fetal anomalies v5.16 LNPK Achchuthan Shanmugasundram commented on gene: LNPK
Fetal anomalies v5.16 LIPT2 Achchuthan Shanmugasundram commented on gene: LIPT2
Fetal anomalies v5.16 LIPN Achchuthan Shanmugasundram commented on gene: LIPN
Fetal anomalies v5.16 LINS1 Achchuthan Shanmugasundram commented on gene: LINS1
Fetal anomalies v5.16 LAMB2 Achchuthan Shanmugasundram commented on gene: LAMB2
Fetal anomalies v5.16 LAMA5 Achchuthan Shanmugasundram commented on gene: LAMA5
Fetal anomalies v5.16 KPTN Achchuthan Shanmugasundram commented on gene: KPTN
Fetal anomalies v5.16 KMT2B Achchuthan Shanmugasundram commented on gene: KMT2B
Fetal anomalies v5.16 KIF5B Achchuthan Shanmugasundram commented on gene: KIF5B
Fetal anomalies v5.16 KIF26A Achchuthan Shanmugasundram commented on gene: KIF26A
Fetal anomalies v5.16 KIF24 Achchuthan Shanmugasundram commented on gene: KIF24
Fetal anomalies v5.16 KDR Achchuthan Shanmugasundram commented on gene: KDR
Fetal anomalies v5.16 KDM5A Achchuthan Shanmugasundram commented on gene: KDM5A
Fetal anomalies v5.16 KDM2B Achchuthan Shanmugasundram commented on gene: KDM2B
Fetal anomalies v5.16 KDELR2 Achchuthan Shanmugasundram commented on gene: KDELR2
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 KCNN3 Achchuthan Shanmugasundram commented on gene: KCNN3
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 KCNK3 Achchuthan Shanmugasundram commented on gene: KCNK3
Fetal anomalies v5.16 KCNJ6 Achchuthan Shanmugasundram commented on gene: KCNJ6
Fetal anomalies v5.16 KCNC3 Achchuthan Shanmugasundram commented on gene: KCNC3
Fetal anomalies v5.16 ITCH Achchuthan Shanmugasundram commented on gene: ITCH
Fetal anomalies v5.16 INTS13 Achchuthan Shanmugasundram commented on gene: INTS13
Fetal anomalies v5.16 INTS11 Achchuthan Shanmugasundram commented on gene: INTS11
Fetal anomalies v5.16 INPP5K Achchuthan Shanmugasundram commented on gene: INPP5K
Fetal anomalies v5.16 IL1RN Achchuthan Shanmugasundram commented on gene: IL1RN
Fetal anomalies v5.16 IDH2 Achchuthan Shanmugasundram commented on gene: IDH2
Fetal anomalies v5.16 HECTD4 Achchuthan Shanmugasundram commented on gene: HECTD4
Fetal anomalies v5.16 HEATR3 Achchuthan Shanmugasundram commented on gene: HEATR3
Fetal anomalies v5.16 GTPBP1 Achchuthan Shanmugasundram commented on gene: GTPBP1
Fetal anomalies v5.16 GPC4 Achchuthan Shanmugasundram commented on gene: GPC4
Fetal anomalies v5.16 GPAA1 Achchuthan Shanmugasundram commented on gene: GPAA1
Fetal anomalies v5.16 GON4L Achchuthan Shanmugasundram commented on gene: GON4L
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 GNAQ Achchuthan Shanmugasundram commented on gene: GNAQ
Fetal anomalies v5.16 GNAI1 Achchuthan Shanmugasundram commented on gene: GNAI1
Fetal anomalies v5.16 GNA14 Achchuthan Shanmugasundram commented on gene: GNA14
Fetal anomalies v5.16 GNA11 Achchuthan Shanmugasundram commented on gene: GNA11
Fetal anomalies v5.16 GLIS2 Achchuthan Shanmugasundram commented on gene: GLIS2
Fetal anomalies v5.16 GDF2 Achchuthan Shanmugasundram commented on gene: GDF2
Fetal anomalies v5.16 GALNT3 Achchuthan Shanmugasundram commented on gene: GALNT3
Fetal anomalies v5.16 FZD6 Achchuthan Shanmugasundram commented on gene: FZD6
Fetal anomalies v5.16 FZD5 Achchuthan Shanmugasundram commented on gene: FZD5
Fetal anomalies v5.16 FUZ Achchuthan Shanmugasundram commented on gene: FUZ
Fetal anomalies v5.16 FTO Achchuthan Shanmugasundram commented on gene: FTO
Fetal anomalies v5.16 FRYL Achchuthan Shanmugasundram commented on gene: FRYL
Fetal anomalies v5.16 FOXP4 Achchuthan Shanmugasundram commented on gene: FOXP4
Fetal anomalies v5.16 FOXI3 Achchuthan Shanmugasundram commented on gene: FOXI3
Fetal anomalies v5.16 FOSL2 Achchuthan Shanmugasundram commented on gene: FOSL2
Fetal anomalies v5.16 FN1 Achchuthan Shanmugasundram commented on gene: FN1
Fetal anomalies v5.16 FLCN Achchuthan Shanmugasundram commented on gene: FLCN
Fetal anomalies v5.16 FILIP1 Achchuthan Shanmugasundram commented on gene: FILIP1
Fetal anomalies v5.16 FGF23 Achchuthan Shanmugasundram commented on gene: FGF23
Fetal anomalies v5.16 FGF16 Achchuthan Shanmugasundram commented on gene: FGF16
Fetal anomalies v5.16 FERMT3 Achchuthan Shanmugasundram commented on gene: FERMT3
Fetal anomalies v5.16 FAS Achchuthan Shanmugasundram commented on gene: FAS
Fetal anomalies v5.16 EXPH5 Achchuthan Shanmugasundram commented on gene: EXPH5
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 ERI1 Achchuthan Shanmugasundram commented on gene: ERI1
Fetal anomalies v5.16 ENG Achchuthan Shanmugasundram commented on gene: ENG
Fetal anomalies v5.16 EMILIN1 Achchuthan Shanmugasundram commented on gene: EMILIN1
Fetal anomalies v5.16 EMG1 Achchuthan Shanmugasundram commented on gene: EMG1
Fetal anomalies v5.16 EIF3B Achchuthan Shanmugasundram commented on gene: EIF3B
Fetal anomalies v5.16 EFEMP1 Achchuthan Shanmugasundram commented on gene: EFEMP1
Fetal anomalies v5.16 EFCAB1 Achchuthan Shanmugasundram commented on gene: EFCAB1
Fetal anomalies v5.16 DVL2 Achchuthan Shanmugasundram commented on gene: DVL2
Fetal anomalies v5.16 DRG1 Achchuthan Shanmugasundram commented on gene: DRG1
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 CUL3 Achchuthan Shanmugasundram commented on gene: CUL3
Fetal anomalies v5.16 CTSC Achchuthan Shanmugasundram commented on gene: CTSC
Fetal anomalies v5.16 CSTA Achchuthan Shanmugasundram commented on gene: CSTA
Fetal anomalies v5.16 CSMD1 Achchuthan Shanmugasundram commented on gene: CSMD1
Fetal anomalies v5.16 CSGALNACT1 Achchuthan Shanmugasundram commented on gene: CSGALNACT1
Fetal anomalies v5.16 CRELD1 Achchuthan Shanmugasundram commented on gene: CRELD1
Fetal anomalies v5.16 COPB2 Achchuthan Shanmugasundram commented on gene: COPB2
Fetal anomalies v5.16 CNOT2 Achchuthan Shanmugasundram commented on gene: CNOT2
Fetal anomalies v5.16 CLPP Achchuthan Shanmugasundram commented on gene: CLPP
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 CHD8 Achchuthan Shanmugasundram commented on gene: CHD8
Fetal anomalies v5.16 CHD3 Achchuthan Shanmugasundram commented on gene: CHD3
Fetal anomalies v5.16 CEP295 Achchuthan Shanmugasundram commented on gene: CEP295
Fetal anomalies v5.16 CELSR3 Achchuthan Shanmugasundram commented on gene: CELSR3
Fetal anomalies v5.16 CDK10 Achchuthan Shanmugasundram commented on gene: CDK10
Fetal anomalies v5.16 CDH2 Achchuthan Shanmugasundram commented on gene: CDH2
Fetal anomalies v5.16 CD40LG Achchuthan Shanmugasundram commented on gene: CD40LG
Fetal anomalies v5.16 CD151 Achchuthan Shanmugasundram commented on gene: CD151
Fetal anomalies v5.16 CBY1 Achchuthan Shanmugasundram commented on gene: CBY1
Fetal anomalies v5.16 CASP2 Achchuthan Shanmugasundram commented on gene: CASP2
Fetal anomalies v5.16 CAPRIN1 Achchuthan Shanmugasundram commented on gene: CAPRIN1
Fetal anomalies v5.16 CAMTA1 Achchuthan Shanmugasundram commented on gene: CAMTA1
Fetal anomalies v5.16 CAMK2B Achchuthan Shanmugasundram commented on gene: CAMK2B
Fetal anomalies v5.16 CACNA1S Achchuthan Shanmugasundram commented on gene: CACNA1S
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 C1GALT1C1 Achchuthan Shanmugasundram commented on gene: C1GALT1C1
Fetal anomalies v5.16 C16orf62 Achchuthan Shanmugasundram commented on gene: C16orf62
Fetal anomalies v5.16 BPTF Achchuthan Shanmugasundram commented on gene: BPTF
Fetal anomalies v5.16 AXIN1 Achchuthan Shanmugasundram commented on gene: AXIN1
Fetal anomalies v5.16 ATG7 Achchuthan Shanmugasundram commented on gene: ATG7
Fetal anomalies v5.16 ASXL3 Achchuthan Shanmugasundram commented on gene: ASXL3
Fetal anomalies v5.16 ASPH Achchuthan Shanmugasundram commented on gene: ASPH
Fetal anomalies v5.16 ASCC3 Achchuthan Shanmugasundram commented on gene: ASCC3
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 v5.16 AMOTL1 Achchuthan Shanmugasundram commented on gene: AMOTL1
Fetal anomalies v5.16 ALG5 Achchuthan Shanmugasundram commented on gene: ALG5
Fetal anomalies v5.16 ALG13 Achchuthan Shanmugasundram commented on gene: ALG13
Fetal anomalies v5.16 ALG11 Achchuthan Shanmugasundram commented on gene: ALG11
Fetal anomalies v5.16 AL117258.1 Achchuthan Shanmugasundram commented on gene: AL117258.1
Fetal anomalies v5.16 ADD1 Achchuthan Shanmugasundram commented on gene: ADD1
Fetal anomalies v5.16 ADAMTS15 Achchuthan Shanmugasundram commented on gene: ADAMTS15
Fetal anomalies v5.16 ACBD6 Achchuthan Shanmugasundram commented on gene: ACBD6
Fetal anomalies v5.16 ABCD4 Achchuthan Shanmugasundram commented on gene: ABCD4
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 v5.14 ROBO1 Achchuthan Shanmugasundram Phenotypes for gene: ROBO1 were changed from Neurooculorenal syndrome, OMIM:620305; Tetralogy of Fallot and septal defects to Neurooculorenal syndrome, OMIM:620305
Fetal anomalies v5.13 ZSCAN10 Achchuthan Shanmugasundram gene: ZSCAN10 was added
gene: ZSCAN10 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ZSCAN10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZSCAN10 were set to 38386308
Phenotypes for gene: ZSCAN10 were set to Otofacial neurodevelopmental syndrome, OMIM:620910
Fetal anomalies v5.13 ZRSR2 Achchuthan Shanmugasundram gene: ZRSR2 was added
gene: ZRSR2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZRSR2 were set to 38158857
Phenotypes for gene: ZRSR2 were set to Orofaciodigital syndrome XXI, OMIM:301132
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 ZNF687 Achchuthan Shanmugasundram gene: ZNF687 was added
gene: ZNF687 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ZNF687 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF687 were set to 26849110; 29493781
Phenotypes for gene: ZNF687 were set to Paget disease of bone 6, OMIM:616833
Fetal anomalies v5.13 ZNF423 Achchuthan Shanmugasundram Source NHS GMS was added to ZNF423.
Publications for gene: ZNF423 were updated from 22863007 to 39071699; 33531950; 22863007; 32925911
Fetal anomalies v5.13 ZMYND8 Achchuthan Shanmugasundram gene: ZMYND8 was added
gene: ZMYND8 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMYND8 were set to 35916866; 32530565
Phenotypes for gene: ZMYND8 were set to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related
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 WNT9B Achchuthan Shanmugasundram Source NHS GMS was added to WNT9B.
Fetal anomalies v5.13 WISP3 Achchuthan Shanmugasundram gene: WISP3 was added
gene: WISP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WISP3 were set to Progressive pseudorheumatoid dysplasia, OMIM:208230
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 WASHC5 Achchuthan Shanmugasundram Source NHS GMS was added to WASHC5.
Source Expert Review Amber was added to WASHC5.
Added phenotypes Ritscher-Schinzel syndrome 1, OMIM:220210 for gene: WASHC5
Publications for gene: WASHC5 were updated from to 24065355
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v5.13 VHL Achchuthan Shanmugasundram gene: VHL was added
gene: VHL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome, OMIM:193300
Fetal anomalies v5.13 UQCC2 Achchuthan Shanmugasundram Source NHS GMS was added to UQCC2.
Fetal anomalies v5.13 UNC45A Achchuthan Shanmugasundram gene: UNC45A was added
gene: UNC45A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: UNC45A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC45A were set to 29429573
Phenotypes for gene: UNC45A were set to Osteootohepatoenteric syndrome, OMIM:619377
Fetal anomalies v5.13 UFSP2 Achchuthan Shanmugasundram gene: UFSP2 was added
gene: UFSP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: UFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UFSP2 were set to 28892125; 32755715; 33473208; 26428751
Phenotypes for gene: UFSP2 were set to Spondyloepimetaphyseal dysplasia, Di Rocco type, OMIM:617974; ?Hip dysplasia, Beukes type, OMIM:142669
Fetal anomalies v5.13 U2AF2 Achchuthan Shanmugasundram gene: U2AF2 was added
gene: U2AF2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: U2AF2 were set to 34112922; 37134193; 37092751; 36747105
Phenotypes for gene: U2AF2 were set to Developmental delay, dysmorphic facies, and brain anomalies OMIM:620535
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 TULP3 Achchuthan Shanmugasundram gene: TULP3 was added
gene: TULP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TULP3 were set to 30799240; 36276950; 36460032; 35397207; 30799239
Phenotypes for gene: TULP3 were set to Hepatorenocardiac degenerative fibrosis, OMIM:619902
Fetal anomalies v5.13 TUFM Achchuthan Shanmugasundram Source NHS GMS was added to TUFM.
Added phenotypes Combined oxidative phosphorylation deficiency 4, OMIM:610678 for gene: TUFM
Publications for gene: TUFM were updated from to 26741492; 17160893
Fetal anomalies v5.13 TTC25 Achchuthan Shanmugasundram Source NHS GMS was added to TTC25.
Added phenotypes Ciliary dyskinesia, primary, 35, OMIM:617092 for gene: TTC25
Publications for gene: TTC25 were updated from to 33746037; 34215651; 33715250; 31765523; 27486780
Fetal anomalies v5.13 TSHZ3 Achchuthan Shanmugasundram gene: TSHZ3 was added
gene: TSHZ3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSHZ3 were set to 36553458; 34919690; 39420202
Phenotypes for gene: TSHZ3 were set to Congenital anomaly of kidney and urinary tract
Fetal anomalies v5.13 TRPM7 Achchuthan Shanmugasundram Source NHS GMS was added to TRPM7.
Source Expert Review Red was added to TRPM7.
Added phenotypes Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to, OMIM:105500 for gene: TRPM7
Publications for gene: TRPM7 were updated from 32503408; 31423533 to 39099563; 39621058; 35712613; 35561741; 31423533; 32503408
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 TRIT1 Achchuthan Shanmugasundram Source NHS GMS was added to TRIT1.
Publications for gene: TRIT1 were updated from 32088416 to 36049610; 32088416
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 TONSL Achchuthan Shanmugasundram gene: TONSL was added
gene: TONSL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TONSL were set to 32959051; 30773278; 30773277
Phenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510
Fetal anomalies v5.13 TOMM7 Achchuthan Shanmugasundram gene: TOMM7 was added
gene: TOMM7 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOMM7 were set to 36282599; 36299998
Phenotypes for gene: TOMM7 were set to Garg-Mishra progeroid syndrome, OMIM:620601
Fetal anomalies v5.13 TOGARAM1 Achchuthan Shanmugasundram Source NHS GMS was added to TOGARAM1.
Source Expert Review Amber was added to TOGARAM1.
Added phenotypes Joubert syndrome 37, OMIM:619185 for gene: TOGARAM1
Publications for gene: TOGARAM1 were updated from 32747439 to 32453716; 32747439
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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 TNFSF11 Achchuthan Shanmugasundram gene: TNFSF11 was added
gene: TNFSF11 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2, OMIM:259710
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 STX5 Achchuthan Shanmugasundram gene: STX5 was added
gene: STX5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: STX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STX5 were set to 34711829
Phenotypes for gene: STX5 were set to ?Congenital disorder of glycosylation, type IIaa, OMIM:620454
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 SNUPN Achchuthan Shanmugasundram gene: SNUPN was added
gene: SNUPN was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNUPN were set to 38413582; 38366623
Phenotypes for gene: SNUPN were set to Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793
Fetal anomalies v5.13 SNRPE Achchuthan Shanmugasundram Source NHS GMS was added to SNRPE.
Source Expert Review Red was added to SNRPE.
Mode of inheritance for gene SNRPE was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Hypotrichosis 11, OMIM:615059 for gene: SNRPE
Publications for gene: SNRPE were updated from to 9621144; 33792916
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
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 SMPD1 Achchuthan Shanmugasundram Source NHS GMS was added to SMPD1.
Added phenotypes Niemann-Pick disease, type B, OMIM:607616; Niemann-Pick disease, type A, OMIM:257200 for gene: SMPD1
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 SLC35A1 Achchuthan Shanmugasundram Source NHS GMS was added to SLC35A1.
Added phenotypes Congenital disorder of glycosylation, type IIf, OMIM:603585 for gene: SLC35A1
Publications for gene: SLC35A1 were updated from to 28856833; 30115659
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 SLC34A1 Achchuthan Shanmugasundram gene: SLC34A1 was added
gene: SLC34A1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC34A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC34A1 were set to 9560283; 12324554; 25050900
Phenotypes for gene: SLC34A1 were set to Infantile hypercalcemia-2, OMIM:616963
Fetal anomalies v5.13 SLC30A7 Achchuthan Shanmugasundram gene: SLC30A7 was added
gene: SLC30A7 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC30A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A7 were set to 36821639
Phenotypes for gene: SLC30A7 were set to Ziegler-Huang syndrome, OMIM:620501
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 SLC24A4 Achchuthan Shanmugasundram Source NHS GMS was added to SLC24A4.
Source Expert Review Red was added to SLC24A4.
Added phenotypes Amelogenesis imperfecta, type IIA5, OMIM:615887 for gene: SLC24A4
Publications for gene: SLC24A4 were updated from to 23375655; 24621671
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 SIAH1 Achchuthan Shanmugasundram gene: SIAH1 was added
gene: SIAH1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SIAH1 were set to 32430360
Phenotypes for gene: SIAH1 were set to Buratti-Harel syndrome, OMIM:619314
Fetal anomalies v5.13 SHROOM4 Achchuthan Shanmugasundram Source NHS GMS was added to SHROOM4.
Added phenotypes Abnormal corpus callosum for gene: SHROOM4
Publications for gene: SHROOM4 were updated from 32565546 to 36379543; 32565546
Fetal anomalies v5.13 SHROOM3 Achchuthan Shanmugasundram Source NHS GMS was added to SHROOM3.
Publications for gene: SHROOM3 were updated from to 32621286
Fetal anomalies v5.13 SH3BP2 Achchuthan Shanmugasundram gene: SH3BP2 was added
gene: SH3BP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SH3BP2 were set to Cherubism, OMIM:118400
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 SFRP4 Achchuthan Shanmugasundram gene: SFRP4 was added
gene: SFRP4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SFRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SFRP4 were set to 20174869; 27117872; 28100910; 22387305; 26273529; 27355534; 22965941; 24096177
Phenotypes for gene: SFRP4 were set to Pyle disease, OMIM:265900
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 SASS6 Achchuthan Shanmugasundram Source NHS GMS was added to SASS6.
Added phenotypes Microcephaly 14, primary, autosomal recessive, OMIM:616402 for gene: SASS6
Publications for gene: SASS6 were updated from 24951542 to 38501757; 24951542; 30639237; 36739862
Fetal anomalies v5.13 RSPRY1 Achchuthan Shanmugasundram Source NHS GMS was added to RSPRY1.
Added phenotypes Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 for gene: RSPRY1
Publications for gene: RSPRY1 were updated from to 26365341; 38562122; 30063090
Fetal anomalies v5.13 RSPO2 Achchuthan Shanmugasundram gene: RSPO2 was added
gene: RSPO2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RSPO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPO2 were set to 29769720; 32457899
Phenotypes for gene: RSPO2 were set to Tetraamelia syndrome 2, OMIM:618021
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 RRAGC Achchuthan Shanmugasundram gene: RRAGC was added
gene: RRAGC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAGC were set to 27234373; 37057673
Phenotypes for gene: RRAGC were set to Long-Olsen syndrome, OMIM:620609
Fetal anomalies v5.13 RPL13 Achchuthan Shanmugasundram gene: RPL13 was added
gene: RPL13 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL13 were set to 31630789
Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, OMIM:618728
Fetal anomalies v5.13 ROBO2 Achchuthan Shanmugasundram gene: ROBO2 was added
gene: ROBO2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROBO2 were set to 19350278; 17357069; 26026792; 29194579; 34059960; 18235093; 24429398
Phenotypes for gene: ROBO2 were set to Vesicoureteral reflux 2, OMIM:610878
Fetal anomalies v5.13 ROBO1 Achchuthan Shanmugasundram Source NHS GMS was added to ROBO1.
Added phenotypes Neurooculorenal syndrome, OMIM:620305 for gene: ROBO1
Publications for gene: ROBO1 were updated from 28592524; 28485101; 30712880; 29194579; 35227688 to 35227688; 28592524; 28286008; 28485101; 30712880; 29194579
Fetal anomalies v5.13 RNU4-2 Achchuthan Shanmugasundram gene: RNU4-2 was added
gene: RNU4-2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU4-2 were set to 38821540; 38859706; 38991538
Phenotypes for gene: RNU4-2 were set to ReNU syndrome, OMIM:620851
Fetal anomalies v5.13 RINT1 Achchuthan Shanmugasundram gene: RINT1 was added
gene: RINT1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RINT1 were set to 31204009
Phenotypes for gene: RINT1 were set to Infantile liver failure syndrome 3 OMIM:618641
Fetal anomalies v5.13 RFWD3 Achchuthan Shanmugasundram Source NHS GMS was added to RFWD3.
Source Expert Review Amber was added to RFWD3.
Publications for gene: RFWD3 were updated from 28691929 to 2869192; 38058754; 28691929
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v5.13 RASGRP2 Achchuthan Shanmugasundram gene: RASGRP2 was added
gene: RASGRP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RASGRP2 were set to 24958846; 18709451
Phenotypes for gene: RASGRP2 were set to ?Bleeding disorder, platelet-type, 18, OMIM:615888
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 RAB34 Achchuthan Shanmugasundram gene: RAB34 was added
gene: RAB34 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to 37619988; 37384395
Phenotypes for gene: RAB34 were set to Orofaciodigital syndrome XX, OMIM:620718
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 PSMC3 Achchuthan Shanmugasundram gene: PSMC3 was added
gene: PSMC3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PSMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSMC3 were set to 37256937
Phenotypes for gene: PSMC3 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v5.13 PSMB9 Achchuthan Shanmugasundram gene: PSMB9 was added
gene: PSMB9 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PSMB9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSMB9 were set to 33727065; 34819510
Phenotypes for gene: PSMB9 were set to Proteasome-associated autoinflammatory syndrome 6, OMIM:620796
Fetal anomalies v5.13 PRKG2 Achchuthan Shanmugasundram gene: PRKG2 was added
gene: PRKG2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PRKG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKG2 were set to 33106379; 34680883; 34782440
Phenotypes for gene: PRKG2 were set to Acromesomelic dysplasia 4, OMIM:619636; Spondylometaphyseal dysplasia, Pagnamenta type, OMIM:619638
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 PLD1 Achchuthan Shanmugasundram Publications for gene: PLD1 were updated from 27799408; 33645542; 33142350 to 33645542; 27799408; 33142350
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 PISD Achchuthan Shanmugasundram gene: PISD was added
gene: PISD was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PISD were set to 30488656; 3561949; 30858161; 31263216
Phenotypes for gene: PISD were set to Liberfarb syndrome, OMIM:618889
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 PIGS Achchuthan Shanmugasundram Source NHS GMS was added to PIGS.
Publications for gene: PIGS were updated from 30269814 to 30269814; 37035392; 33410539
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 PHLDB1 Achchuthan Shanmugasundram gene: PHLDB1 was added
gene: PHLDB1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PHLDB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHLDB1 were set to 36543534
Phenotypes for gene: PHLDB1 were set to Osteogenesis imperfecta, type XXIII, OMIM:620639
Fetal anomalies v5.13 PAN2 Achchuthan Shanmugasundram gene: PAN2 was added
gene: PAN2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PAN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAN2 were set to 35304602; 29620724
Phenotypes for gene: PAN2 were set to syndromic disease MONDO:0002254
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 NUAK2 Achchuthan Shanmugasundram Source NHS GMS was added to NUAK2.
Source Expert Review Red was added to NUAK2.
Added phenotypes ?Anencephaly 2, OMIM:619452 for gene: NUAK2
Publications for gene: NUAK2 were updated from 32845958; 22689267 to 22689267; 32845958
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 NSUN6 Achchuthan Shanmugasundram gene: NSUN6 was added
gene: NSUN6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NSUN6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSUN6 were set to 37226891
Phenotypes for gene: NSUN6 were set to Intellectual developmental disorder, autosomal recessive 82, OMIM:620779
Fetal anomalies v5.13 NSUN2 Achchuthan Shanmugasundram Source NHS GMS was added to NSUN2.
Source Expert Review Red was added to NSUN2.
Added phenotypes Intellectual developmental disorder, autosomal recessive 5, OMIM:611091 for gene: NSUN2
Publications for gene: NSUN2 were updated from to 37305761; 36420349; 38643142; 33002343
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 NPR3 Achchuthan Shanmugasundram gene: NPR3 was added
gene: NPR3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPR3 were set to 30032985; 10468599
Phenotypes for gene: NPR3 were set to Boudin-Mortier syndrome, OMIM:619543
Fetal anomalies v5.13 NPNT Achchuthan Shanmugasundram gene: NPNT was added
gene: NPNT was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPNT were set to 34049960; 35246978; 17537792
Phenotypes for gene: NPNT were set to Renal agenesis, MONDO:0018470, NPNT-related
Fetal anomalies v5.13 NLRP3 Achchuthan Shanmugasundram Source Expert Review Amber was added to NLRP3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v5.13 NHP2 Achchuthan Shanmugasundram Source NHS GMS was added to NHP2.
Added phenotypes Dyskeratosis congenita, autosomal recessive 2, OMIM:613987 for gene: NHP2
Publications for gene: NHP2 were updated from to 18523010
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 MSTO1 Achchuthan Shanmugasundram Source NHS GMS was added to MSTO1.
Publications for gene: MSTO1 were updated from 29339779; 28544275; 31604776; 31130378; 28554942; 37431817 to 31463572; 37431817; 28554942; 29339779; 28544275; 30684668; 31130378; 31604776
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 MMP15 Achchuthan Shanmugasundram Source NHS GMS was added to MMP15.
Publications for gene: MMP15 were updated from 33875846 to 33875846; 34988996
Fetal anomalies v5.13 MIR17HG Achchuthan Shanmugasundram Source NHS GMS was added to MIR17HG.
Publications for gene: MIR17HG were updated from to 36588757; 30672094; 26360630; 33818875
Fetal anomalies v5.13 MDFIC Achchuthan Shanmugasundram Source NHS GMS was added to MDFIC.
Fetal anomalies v5.13 MBOAT7 Achchuthan Shanmugasundram Source NHS GMS was added to MBOAT7.
Added phenotypes Intellectual developmental disorder, autosomal recessive 57, OMIM:617188 for gene: MBOAT7
Publications for gene: MBOAT7 were updated from to 36672789; 38088234; 32645526; 33335874; 38407511; 32744787; 34979703; 31852446; 37628684
Fetal anomalies v5.13 MAX Achchuthan Shanmugasundram gene: MAX was added
gene: MAX was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAX were set to 38141607
Phenotypes for gene: MAX were set to Polydactyly-macrocephaly syndrome, OMIM:620712
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 LSM11 Achchuthan Shanmugasundram gene: LSM11 was added
gene: LSM11 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to 33230297
Phenotypes for gene: LSM11 were set to ?Aicardi-Goutieres syndrome 8, OMIM:619486
Fetal anomalies v5.13 LRRK1 Achchuthan Shanmugasundram gene: LRRK1 was added
gene: LRRK1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LRRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRK1 were set to 32119750; 27829680; 27055475; 31571209
Phenotypes for gene: LRRK1 were set to Osteosclerotic metaphyseal dysplasia, OMIM:615198
Fetal anomalies v5.13 LRIG2 Achchuthan Shanmugasundram Source NHS GMS was added to LRIG2.
Publications for gene: LRIG2 were updated from to 30885509; 27855655; 23313374
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 LRAT Achchuthan Shanmugasundram Source NHS GMS was added to LRAT.
Source Expert Review Red was added to LRAT.
Added phenotypes Leber congenital amaurosis 14, OMIM:613341 for gene: LRAT
Publications for gene: LRAT were updated from to 18055821; 17011878; 11381255
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 LPIN2 Achchuthan Shanmugasundram gene: LPIN2 was added
gene: LPIN2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPIN2 were set to 29912021
Phenotypes for gene: LPIN2 were set to Majeed syndrome, OMIM:609628
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 LINS1 Achchuthan Shanmugasundram Source NHS GMS was added to LINS1.
Added phenotypes Intellectual developmental disorder, autosomal recessive 27, OMIM:614340 for gene: LINS1
Publications for gene: LINS1 were updated from to 34450347; 32499722; 39138116; 32802957; 38563234; 28181389; 31922598
Fetal anomalies v5.13 LAMB2 Achchuthan Shanmugasundram gene: LAMB2 was added
gene: LAMB2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB2 were set to 14136829; 15372515; 17256789
Phenotypes for gene: LAMB2 were set to Pierson syndrome, OMIM:609049
Fetal anomalies v5.13 LAMA5 Achchuthan Shanmugasundram gene: LAMA5 was added
gene: LAMA5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA5 were set to 32439764; 35584218; 35419533; 36714636; 37985485
Phenotypes for gene: LAMA5 were set to Nephrotic syndrome, type 26, OMIM:620049
Fetal anomalies v5.13 KPTN Achchuthan Shanmugasundram Source NHS GMS was added to KPTN.
Publications for gene: KPTN were updated from to 39083632
Fetal anomalies v5.13 KMT2B Achchuthan Shanmugasundram Source NHS GMS was added to KMT2B.
Mode of inheritance for gene KMT2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder, autosomal dominant 68, OMIM:619934 for gene: KMT2B
Publications for gene: KMT2B were updated from to 29276005; 29697234; 33150406
Fetal anomalies v5.13 KIF5B Achchuthan Shanmugasundram gene: KIF5B was added
gene: KIF5B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to 36018820; 35342932
Phenotypes for gene: KIF5B were set to kyphomelic dysplasia, MONDO:0008881
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 KIF24 Achchuthan Shanmugasundram gene: KIF24 was added
gene: KIF24 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KIF24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF24 were set to 35748595
Phenotypes for gene: KIF24 were set to skeletal dysplasia, MONDO:0018230
Fetal anomalies v5.13 KDR Achchuthan Shanmugasundram gene: KDR was added
gene: KDR was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDR were set to 28991257; 34113005; 30232381
Phenotypes for gene: KDR were set to Hemangioma, capillary infantile, somatic, OMIM:602089
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 KDM2B Achchuthan Shanmugasundram gene: KDM2B was added
gene: KDM2B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2B were set to 36322151
Phenotypes for gene: KDM2B were set to Neurodevelopmental disorder MONDO:0700092, KDM2B-related
Fetal anomalies v5.13 KDELR2 Achchuthan Shanmugasundram gene: KDELR2 was added
gene: KDELR2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDELR2 were set to 33053334
Phenotypes for gene: KDELR2 were set to Osteogenesis imperfecta, type XXI, OMIM:619131
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 KCNK9 Achchuthan Shanmugasundram Source NHS GMS was added to KCNK9.
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 KCNC3 Achchuthan Shanmugasundram Source NHS GMS was added to KCNC3.
Mode of inheritance for gene KCNC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Spinocerebellar ataxia 13, OMIM:605259 for gene: KCNC3
Publications for gene: KCNC3 were updated from to 20301404
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 INTS13 Achchuthan Shanmugasundram gene: INTS13 was added
gene: INTS13 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS13 were set to 36229431
Phenotypes for gene: INTS13 were set to orofaciodigital syndrome, MONDO:0015375
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 IL1RN Achchuthan Shanmugasundram gene: IL1RN was added
gene: IL1RN was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL1RN were set to 19494219; 19494218
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency, OMIM:612852
Fetal anomalies v5.13 IDH2 Achchuthan Shanmugasundram gene: IDH2 was added
gene: IDH2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IDH2 were set to 20847235; 38782764
Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2, OMIM:613657
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 HEATR3 Achchuthan Shanmugasundram gene: HEATR3 was added
gene: HEATR3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR3 were set to 35213692
Phenotypes for gene: HEATR3 were set to Diamond-Blackfan anemia 21, OMIM:620072
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 GPC4 Achchuthan Shanmugasundram gene: GPC4 was added
gene: GPC4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPC4 were set to 9001804; 21567928; 30982611; 17726694; 12605449; 4708024; 18541962
Phenotypes for gene: GPC4 were set to Keipert syndrome, OMIM:301026
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 GON4L Achchuthan Shanmugasundram gene: GON4L was added
gene: GON4L was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GON4L were set to 39500882
Phenotypes for gene: GON4L were set to complex neurodevelopmental disorder, MONDO:0100038
Fetal anomalies v5.13 GNB2 Achchuthan Shanmugasundram Source NHS GMS was added to GNB2.
Publications for gene: GNB2 were updated from 31698099; 34183358; 36658419 to 31698099; 36658419; 34183358
Fetal anomalies v5.13 GNAQ Achchuthan Shanmugasundram Source NHS GMS was added to GNAQ.
Source Expert Review Red was added to GNAQ.
Added phenotypes Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Capillary malformations, congenital, 1, somatic, mosaic, OMIM:163000 for gene: GNAQ
Publications for gene: GNAQ were updated from to 23656586; 37606556; 36263782
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 GNAI1 Achchuthan Shanmugasundram Source NHS GMS was added to GNAI1.
Source Expert Review Red was added to GNAI1.
Publications for gene: GNAI1 were updated from to 34819662; 38441201; 39083633; 33473207; 34685729
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 GNA14 Achchuthan Shanmugasundram Source NHS GMS was added to GNA14.
Publications for gene: GNA14 were updated from to 38917801
Fetal anomalies v5.13 GNA11 Achchuthan Shanmugasundram Source NHS GMS was added to GNA11.
Added phenotypes Hypocalciuric hypercalcemia, type II, OMIM:145981; Hypocalcemia, autosomal dominant 2, OMIM:615361 for gene: GNA11
Publications for gene: GNA11 were updated from to 27438697
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 GDF2 Achchuthan Shanmugasundram Source NHS GMS was added to GDF2.
Source Expert Review Amber was added to GDF2.
Mode of inheritance for gene GDF2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506 for gene: GDF2
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v5.13 GALNT3 Achchuthan Shanmugasundram gene: GALNT3 was added
gene: GALNT3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial, 1, OMIM:211900
Fetal anomalies v5.13 FZD6 Achchuthan Shanmugasundram Source NHS GMS was added to FZD6.
Fetal anomalies v5.13 FZD5 Achchuthan Shanmugasundram Source NHS GMS was added to FZD5.
Source Expert Review Red was added to FZD5.
Mode of inheritance for gene FZD5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD5 were updated from to 33633439; 36695497; 32737437; 26908622
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 FRYL Achchuthan Shanmugasundram gene: FRYL was added
gene: FRYL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FRYL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FRYL were set to 38479391
Phenotypes for gene: FRYL were set to Neurodevelopmental disorder, MONDO:0700092, FRYL-related
Fetal anomalies v5.13 FOXP4 Achchuthan Shanmugasundram Source NHS GMS was added to FOXP4.
Added phenotypes Congenital diaphragmatic hernia for gene: FOXP4
Publications for gene: FOXP4 were updated from 33110267 to 33110267; 36301021
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 FOSL2 Achchuthan Shanmugasundram gene: FOSL2 was added
gene: FOSL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Aplasia cutis-enamel dysplasia syndrome, OMIM:620789
Fetal anomalies v5.13 FN1 Achchuthan Shanmugasundram Source NHS GMS was added to FN1.
Added phenotypes Spondylometaphyseal dysplasia, corner fracture type, OMIM:184255 for gene: FN1
Publications for gene: FN1 were updated from to 32200603
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 FGF23 Achchuthan Shanmugasundram gene: FGF23 was added
gene: FGF23 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: FGF23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF23 were set to Tumoral calcinosis, hyperphosphatemic, familial, OMIM:6211900; Hypophosphatemic rickets, autosomal dominant, OMIM:6193100
Fetal anomalies v5.13 FGF16 Achchuthan Shanmugasundram gene: FGF16 was added
gene: FGF16 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FGF16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGF16 were set to 25333065; 24706454; 23709756
Phenotypes for gene: FGF16 were set to Metacarpal 4-5 fusion, OMIM:309630
Fetal anomalies v5.13 FERMT3 Achchuthan Shanmugasundram gene: FERMT3 was added
gene: FERMT3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FERMT3 were set to 19064721; 19234460
Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III OMIM:612840
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 EXPH5 Achchuthan Shanmugasundram Source NHS GMS was added to EXPH5.
Source Expert Review Red was added to EXPH5.
Added phenotypes Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, OMIM:615028 for gene: EXPH5
Publications for gene: EXPH5 were updated from to 24443915; 23176819; 32176379; 24005056; 27730671; 27384765
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 ESAM Achchuthan Shanmugasundram Source NHS GMS was added to ESAM.
Publications for gene: ESAM were updated from 36996813 to 39414991; 36996813
Fetal anomalies v5.13 ERI1 Achchuthan Shanmugasundram gene: ERI1 was added
gene: ERI1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERI1 were set to 36208065; 37352860; 28488351; 33942433
Phenotypes for gene: ERI1 were set to Spondyloepimetaphyseal dysplasia, Guo-Campeau type, OMIM:620663; Hoxha-Aliu syndrome, OMIM:620662
Fetal anomalies v5.13 ENG Achchuthan Shanmugasundram Source NHS GMS was added to ENG.
Publications for gene: ENG were updated from to 36588762; 32954511; 15520401
Fetal anomalies v5.13 EMILIN1 Achchuthan Shanmugasundram gene: EMILIN1 was added
gene: EMILIN1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EMILIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMILIN1 were set to 14701737; 36351433
Phenotypes for gene: EMILIN1 were set to Arterial tortuosity-bone fragility syndrome, OMIM:620908
Fetal anomalies v5.13 EMG1 Achchuthan Shanmugasundram Source NHS GMS was added to EMG1.
Fetal anomalies v5.13 EIF3B Achchuthan Shanmugasundram gene: EIF3B was added
gene: EIF3B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EIF3B were set to Single kidney; Bilateral cleft lip and palate; Tetralogy of Fallot; Asplenia
Fetal anomalies v5.13 EFEMP1 Achchuthan Shanmugasundram gene: EFEMP1 was added
gene: EFEMP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EFEMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP1 were set to 33807164; 17872905; 22489068; 32006683; 31792352
Phenotypes for gene: EFEMP1 were set to Cutis laxa, autosomal recessive, type ID, OMIM:620780
Fetal anomalies v5.13 EFCAB1 Achchuthan Shanmugasundram gene: EFCAB1 was added
gene: EFCAB1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFCAB1 were set to 36727596
Phenotypes for gene: EFCAB1 were set to Ciliary dyskinesia, primary, 53, OMIM:620642
Fetal anomalies v5.13 DVL2 Achchuthan Shanmugasundram gene: DVL2 was added
gene: DVL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DVL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL2 were set to 35047859; 33599851; 30521570
Phenotypes for gene: DVL2 were set to Robinow syndrome, MONDO:0019978
Fetal anomalies v5.13 DRG1 Achchuthan Shanmugasundram gene: DRG1 was added
gene: DRG1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DRG1 were set to 37179472
Phenotypes for gene: DRG1 were set to Tan-Almurshedi syndrome, OMIM:620641
Fetal anomalies v5.13 DRC1 Achchuthan Shanmugasundram Source NHS GMS was added to DRC1.
Added phenotypes Ciliary dyskinesia, primary, 21, OMIM:615294 for gene: DRC1
Publications for gene: DRC1 were updated from to 39152285; 39462806; 34851034
Fetal anomalies v5.13 DPYSL5 Achchuthan Shanmugasundram gene: DPYSL5 was added
gene: DPYSL5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DPYSL5 were set to 33894126
Phenotypes for gene: DPYSL5 were set to Ritscher-Schinzel syndrome 4, OMIM:619435
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 DLX3 Achchuthan Shanmugasundram gene: DLX3 was added
gene: DLX3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: DLX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLX3 were set to 26104267; 26762616
Phenotypes for gene: DLX3 were set to Amelogenesis imperfecta, type IV, OMIM:104510; Trichodontoosseous syndrome, OMIM:190320
Fetal anomalies v5.13 DLG5 Achchuthan Shanmugasundram gene: DLG5 was added
gene: DLG5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLG5 were set to 32631816; 30791088
Phenotypes for gene: DLG5 were set to Yuksel-Vogel-Bauser syndrome, OMIM:620703
Fetal anomalies v5.13 DLG4 Achchuthan Shanmugasundram Source NHS GMS was added to DLG4.
Mode of inheritance for gene DLG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder, autosomal dominant 62, OMIM:618793 for gene: DLG4
Publications for gene: DLG4 were updated from to 37347881
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 DDRGK1 Achchuthan Shanmugasundram gene: DDRGK1 was added
gene: DDRGK1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DDRGK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDRGK1 were set to 35670300; 35377455; 28263186; 36243336
Phenotypes for gene: DDRGK1 were set to Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557
Fetal anomalies v5.13 DCDC2 Achchuthan Shanmugasundram Source NHS GMS was added to DCDC2.
Added phenotypes Sclerosing cholangitis, neonatal, OMIM:617394 for gene: DCDC2
Publications for gene: DCDC2 were updated from to 37296768; 36816379; 36938759; 35570614; 34155636
Fetal anomalies v5.13 DAW1 Achchuthan Shanmugasundram gene: DAW1 was added
gene: DAW1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124; 28991257
Phenotypes for gene: DAW1 were set to Ciliary dyskinesia, primary, 52, OMIM:620570
Fetal anomalies v5.13 CYP2R1 Achchuthan Shanmugasundram gene: CYP2R1 was added
gene: CYP2R1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2R1 were set to 28548312; 15128933
Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation deficiency, OMIM:600081
Fetal anomalies v5.13 CYP27B1 Achchuthan Shanmugasundram gene: CYP27B1 was added
gene: CYP27B1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27B1 were set to 34492747; 9486994; 27473561; 12050193; 9415400; 33823104
Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I, OMIM:264700
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 CTSC Achchuthan Shanmugasundram gene: CTSC was added
gene: CTSC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 32601924; 14974080; 11106356; 10581027; 10662808
Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome, OMIM:245000; Haim-Munk syndrome, OMIM:245010
Fetal anomalies v5.13 CSTA Achchuthan Shanmugasundram Source NHS GMS was added to CSTA.
Source Expert Review Red was added to CSTA.
Added phenotypes Peeling skin syndrome 4, OMIM:607936 for gene: CSTA
Publications for gene: CSTA were updated from to 21944047; 12890214; 25400170; 22066523
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 CSMD1 Achchuthan Shanmugasundram gene: CSMD1 was added
gene: CSMD1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSMD1 were set to 38816421
Phenotypes for gene: CSMD1 were set to Complex neurodevelopmental disorder, MONDO:0100038
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 CRELD1 Achchuthan Shanmugasundram Source NHS GMS was added to CRELD1.
Mode of inheritance for gene CRELD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 for gene: CRELD1
Publications for gene: CRELD1 were updated from to 37947183
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 CLPP Achchuthan Shanmugasundram Source NHS GMS was added to CLPP.
Added phenotypes Perrault syndrome 3, OMIM:614129 for gene: CLPP
Publications for gene: CLPP were updated from to 38454547; 37932750; 34338890; 38249302
Fetal anomalies v5.13 CLCN5 Achchuthan Shanmugasundram Source NHS GMS was added to CLCN5.
Publications for gene: CLCN5 were updated from 36307859; 36495297; 37229200 to 36495297; 38267993; 36307859; 37229200
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 CHD3 Achchuthan Shanmugasundram Source NHS GMS was added to CHD3.
Mode of inheritance for gene CHD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Snijders Blok-Campeau syndrome, OMIM:618205 for gene: CHD3
Publications for gene: CHD3 were updated from to 32483341; 39050258; 30397230; 37761804
Fetal anomalies v5.13 CEP295 Achchuthan Shanmugasundram gene: CEP295 was added
gene: CEP295 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CEP295 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP295 were set to 38154379
Phenotypes for gene: CEP295 were set to Seckel syndrome 11, OMIM:620767
Fetal anomalies v5.13 CELSR3 Achchuthan Shanmugasundram gene: CELSR3 was added
gene: CELSR3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CELSR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CELSR3 were set to 38429302
Phenotypes for gene: CELSR3 were set to Neurodevelopmental disorder, MONDO:0700092, CELSR3-related
Fetal anomalies v5.13 CDK10 Achchuthan Shanmugasundram gene: CDK10 was added
gene: CDK10 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK10 were set to 34974531; 28886341
Phenotypes for gene: CDK10 were set to Al Kaissi syndrome, OMIM:617694
Fetal anomalies v5.13 CDH2 Achchuthan Shanmugasundram gene: CDH2 was added
gene: CDH2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH2 were set to 31650526; 31585109
Phenotypes for gene: CDH2 were set to Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929
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 CAMK2B Achchuthan Shanmugasundram Source NHS GMS was added to CAMK2B.
Mode of inheritance for gene CAMK2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder, autosomal dominant 54, OMIM:617799 for gene: CAMK2B
Publications for gene: CAMK2B were updated from to 37734707; 29100089; 29560374
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 CACHD1 Achchuthan Shanmugasundram Source NHS GMS was added to CACHD1.
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 C16orf62 Achchuthan Shanmugasundram gene: C16orf62 was added
gene: C16orf62 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C16orf62 were set to 36113987
Phenotypes for gene: C16orf62 were set to Ritscher-Schinzel syndrome 3, OMIM:619135
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 ATG7 Achchuthan Shanmugasundram gene: ATG7 was added
gene: ATG7 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to 17726112; 16625205; 34161705
Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422
Fetal anomalies v5.13 ASXL3 Achchuthan Shanmugasundram Source NHS GMS was added to ASXL3.
Mode of inheritance for gene ASXL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASXL3 were updated from 29316359; 32565546; 33820833 to 38420660; 33820833; 32565546; 29316359
Fetal anomalies v5.13 ASPH Achchuthan Shanmugasundram Source NHS GMS was added to ASPH.
Source Expert Review Red was added to ASPH.
Publications for gene: ASPH were updated from 28976722 to 30194805; 24768550; 23687502; 11241487; 8749053; 28976722
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 ASCC3 Achchuthan Shanmugasundram gene: ASCC3 was added
gene: ASCC3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC3 were set to 35047834; 21937992
Phenotypes for gene: ASCC3 were set to Intellectual developmental disorder, autosomal recessive 81, OMIM:620700
Fetal anomalies v5.13 ARV1 Achchuthan Shanmugasundram Source NHS GMS was added to ARV1.
Publications for gene: ARV1 were updated from 34296759; 36307859 to 36307859; 34296759
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 ALG5 Achchuthan Shanmugasundram gene: ALG5 was added
gene: ALG5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ALG5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG5 were set to 35896117
Phenotypes for gene: ALG5 were set to Polycystic kidney disease 7, OMIM:620056
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 ALG11 Achchuthan Shanmugasundram Source NHS GMS was added to ALG11.
Added phenotypes Congenital disorder of glycosylation, type Ip, OMIM:613661 for gene: ALG11
Publications for gene: ALG11 were updated from to 30770273
Fetal anomalies v5.13 AL117258.1 Achchuthan Shanmugasundram gene: AL117258.1 was added
gene: AL117258.1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: AL117258.1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AL117258.1 were set to 34903892; 39513328
Phenotypes for gene: AL117258.1 were set to Heterotaxy, visceral, 12, autosomal, OMIM:619702
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 v5.13 ABCD4 Achchuthan Shanmugasundram Source NHS GMS was added to ABCD4.
Publications for gene: ABCD4 were updated from to 33729671
Fetal anomalies v5.12 EMG1 Achchuthan Shanmugasundram Phenotypes for gene: EMG1 were changed from Bowen-Conradi syndrome; Bowen-Conradi syndrome, 211180 to Bowen-Conradi syndrome, OMIM:211180
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 Classified gene: ITGAV as Amber List (moderate evidence)
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 v5.10 ITGAV Achchuthan Shanmugasundram Gene: itgav has been classified as Amber List (Moderate 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 v5.9 ITGAV Achchuthan Shanmugasundram Publications for gene: ITGAV were set to 39526957
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 Classified gene: CACHD1 as Amber List (moderate evidence)
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 v5.7 CACHD1 Achchuthan Shanmugasundram Gene: cachd1 has been classified as Amber List (Moderate 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 v5.5 EXOSC5 Sarah Leigh Publications for gene: EXOSC5 were set to 32504085; 29302074; 34089229; 30950035
Fetal anomalies v5.4 EXOSC5 Sarah Leigh Publications for gene: EXOSC5 were set to 32504085; 29302074; 34089229; 30950035
Fetal anomalies v5.3 EXOSC5 Sarah Leigh Publications for gene: EXOSC5 were set to 32504085; 29302074
Fetal anomalies v5.2 RRAS Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RRAS.
Fetal anomalies v5.2 MYBBP1A Achchuthan Shanmugasundram Phenotypes for gene: MYBBP1A were changed from to non-immune hydrops fetalis, MONDO:0009369
Fetal anomalies v5.1 MYBBP1A Achchuthan Shanmugasundram Tag Q3_24_MOI was removed from gene: MYBBP1A.
Fetal anomalies v5.1 Sarah Leigh Panel version 5.0 has been signed off on 2024-10-30
Fetal anomalies v5.0 Sarah Leigh promoted panel to version 5.0
Fetal anomalies v4.198 CENPJ Arina Puzriakova Tag new-gene-name tag was added to gene: CENPJ.
Fetal anomalies v4.198 CENPJ Arina Puzriakova commented on gene: CENPJ
Fetal anomalies v4.198 CCDC103 Arina Puzriakova Tag new-gene-name tag was added to gene: CCDC103.
Fetal anomalies v4.198 CCDC103 Arina Puzriakova commented on gene: CCDC103
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 v4.198 XYLT1 Sarah Leigh Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2 to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
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 v4.197 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to
Fetal anomalies v4.196 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Fetal anomalies v4.196 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Fetal anomalies v4.195 YIF1B Arina Puzriakova Tag gene-checked tag was added to gene: YIF1B.
Fetal anomalies v4.195 WDR37 Arina Puzriakova Tag gene-checked tag was added to gene: WDR37.
Fetal anomalies v4.195 TXNDC15 Arina Puzriakova Phenotypes for gene: TXNDC15 were changed from Meckel Gruber syndrome to Meckel syndrome 14, OMIM:619879
Fetal anomalies v4.194 TUBGCP2 Arina Puzriakova Tag gene-checked tag was added to gene: TUBGCP2.
Fetal anomalies v4.194 TRIM71 Arina Puzriakova Tag gene-checked tag was added to gene: TRIM71.
Fetal anomalies v4.194 TMEM218 Arina Puzriakova Tag gene-checked tag was added to gene: TMEM218.
Fetal anomalies v4.194 RNU12 Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU12.
Tag gene-checked tag was added to gene: RNU12.
Fetal anomalies v4.194 HYAL2 Arina Puzriakova Tag gene-checked tag was added to gene: HYAL2.
Fetal anomalies v4.194 FBRSL1 Arina Puzriakova Tag gene-checked tag was added to gene: FBRSL1.
Fetal anomalies v4.194 FAT1 Arina Puzriakova Tag gene-checked tag was added to gene: FAT1.
Fetal anomalies v4.194 FAM149B1 Arina Puzriakova Tag gene-checked tag was added to gene: FAM149B1.
Fetal anomalies v4.194 EXOC3L2 Arina Puzriakova Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; Meckel-Gruber-like syndrome to Brain malformation renal syndrome, OMIM:620943; Dandy-Walker malformation; Meckel-Gruber-like syndrome
Fetal anomalies v4.193 EXOC3L2 Arina Puzriakova Tag gene-checked was removed from gene: EXOC3L2.
Fetal anomalies v4.193 ERGIC1 Arina Puzriakova Tag gene-checked tag was added to gene: ERGIC1.
Fetal anomalies v4.193 DYNC1I1 Arina Puzriakova Tag gene-checked tag was added to gene: DYNC1I1.
Fetal anomalies v4.193 CEP85L Arina Puzriakova Tag gene-checked tag was added to gene: CEP85L.
Fetal anomalies v4.193 C2orf69 Arina Puzriakova Tag gene-checked tag was added to gene: C2orf69.
Fetal anomalies v4.193 C11orf70 Arina Puzriakova Phenotypes for gene: C11orf70 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 38, OMIM:618063
Fetal anomalies v4.192 TLL1 Achchuthan Shanmugasundram Tag Q2_24_demote_amber was removed from gene: TLL1.
Tag Q2_24_NHS_review was removed from gene: TLL1.
Fetal anomalies v4.192 CELSR1 Achchuthan Shanmugasundram Tag Q2_24_demote_amber was removed from gene: CELSR1.
Tag Q2_24_NHS_review was removed from gene: CELSR1.
Fetal anomalies v4.192 ZNF699 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF699.
Tag Q3_24_NHS_review was removed from gene: ZNF699.
Fetal anomalies v4.192 ZNF526 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF526.
Tag Q3_24_NHS_review was removed from gene: ZNF526.
Fetal anomalies v4.192 ZNF462 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF462.
Tag Q3_24_NHS_review was removed from gene: ZNF462.
Fetal anomalies v4.192 ZNF335 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF335.
Tag Q3_24_NHS_review was removed from gene: ZNF335.
Fetal anomalies v4.192 ZMYM2 Achchuthan Shanmugasundram Tag Q3_24_NHS_review was removed from gene: ZMYM2.
Tag Q3_24_MOI was removed from gene: ZMYM2.
Fetal anomalies v4.192 ZMIZ1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZMIZ1.
Tag Q3_24_NHS_review was removed from gene: ZMIZ1.
Fetal anomalies v4.192 WWOX Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: WWOX.
Tag Q3_24_NHS_review was removed from gene: WWOX.
Fetal anomalies v4.192 WDR4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: WDR4.
Tag Q3_24_NHS_review was removed from gene: WDR4.
Fetal anomalies v4.192 WDR37 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: WDR37.
Tag Q3_24_NHS_review was removed from gene: WDR37.
Fetal anomalies v4.192 VPS4A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: VPS4A.
Tag Q3_24_NHS_review was removed from gene: VPS4A.
Fetal anomalies v4.192 UBA2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: UBA2.
Tag Q3_24_NHS_review was removed from gene: UBA2.
Fetal anomalies v4.192 TSEN15 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TSEN15.
Tag Q3_24_NHS_review was removed from gene: TSEN15.
Fetal anomalies v4.192 TRRAP Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TRRAP.
Tag Q3_24_NHS_review was removed from gene: TRRAP.
Fetal anomalies v4.192 TRIM71 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TRIM71.
Tag Q3_24_NHS_review was removed from gene: TRIM71.
Fetal anomalies v4.192 TP73 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TP73.
Tag Q3_24_NHS_review was removed from gene: TP73.
Fetal anomalies v4.192 TOR1AIP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TOR1AIP1.
Tag Q3_24_NHS_review was removed from gene: TOR1AIP1.
Fetal anomalies v4.192 TMTC3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TMTC3.
Tag Q3_24_NHS_review was removed from gene: TMTC3.
Fetal anomalies v4.192 TMEM218 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TMEM218.
Tag Q3_24_NHS_review was removed from gene: TMEM218.
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 STT3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: STT3A.
Tag Q3_24_NHS_review was removed from gene: STT3A.
Fetal anomalies v4.192 SPTB Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SPTB.
Tag Q3_24_NHS_review was removed from gene: SPTB.
Fetal anomalies v4.192 SPINT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SPINT2.
Tag Q3_24_NHS_review was removed from gene: SPINT2.
Fetal anomalies v4.192 SPEN Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SPEN.
Tag Q3_24_NHS_review was removed from gene: SPEN.
Fetal anomalies v4.192 SOX11 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SOX11.
Tag Q3_24_NHS_review was removed from gene: SOX11.
Fetal anomalies v4.192 SMARCD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SMARCD1.
Tag Q3_24_NHS_review was removed from gene: SMARCD1.
Fetal anomalies v4.192 SMAD2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SMAD2.
Tag Q3_24_NHS_review was removed from gene: SMAD2.
Fetal anomalies v4.192 SKIV2L Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SKIV2L.
Tag Q3_24_NHS_review was removed from gene: SKIV2L.
Fetal anomalies v4.192 SIN3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SIN3A.
Tag Q3_24_NHS_review was removed from gene: SIN3A.
Fetal anomalies v4.192 SHMT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SHMT2.
Tag Q3_24_NHS_review was removed from gene: SHMT2.
Fetal anomalies v4.192 SEMA3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SEMA3A.
Tag Q3_24_NHS_review was removed from gene: SEMA3A.
Fetal anomalies v4.192 SCN5A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SCN5A.
Tag Q3_24_NHS_review was removed from gene: SCN5A.
Fetal anomalies v4.192 SCN3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SCN3A.
Tag Q3_24_NHS_review was removed from gene: SCN3A.
Fetal anomalies v4.192 SCAF4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SCAF4.
Tag Q3_24_NHS_review was removed from gene: SCAF4.
Fetal anomalies v4.192 RPL15 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RPL15.
Tag Q3_24_NHS_review was removed from gene: RPL15.
Fetal anomalies v4.192 RNU12 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RNU12.
Tag Q3_24_NHS_review was removed from gene: RNU12.
Fetal anomalies v4.192 RNF125 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RNF125.
Tag Q3_24_NHS_review was removed from gene: RNF125.
Fetal anomalies v4.192 RNF113A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RNF113A.
Tag Q3_24_NHS_review was removed from gene: RNF113A.
Fetal anomalies v4.192 RLIM Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RLIM.
Tag Q3_24_NHS_review was removed from gene: RLIM.
Fetal anomalies v4.192 RBP4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RBP4.
Tag Q3_24_NHS_review was removed from gene: RBP4.
Fetal anomalies v4.192 RAD51 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RAD51.
Tag Q3_24_NHS_review was removed from gene: RAD51.
Fetal anomalies v4.192 RAD50 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RAD50.
Tag Q3_24_NHS_review was removed from gene: RAD50.
Fetal anomalies v4.192 PXDN Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PXDN.
Tag Q3_24_NHS_review was removed from gene: PXDN.
Fetal anomalies v4.192 PTPN23 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PTPN23.
Tag Q3_24_NHS_review was removed from gene: PTPN23.
Fetal anomalies v4.192 PRR12 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PRR12.
Tag Q3_24_NHS_review was removed from gene: PRR12.
Fetal anomalies v4.192 PRF1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PRF1.
Tag Q3_24_NHS_review was removed from gene: PRF1.
Fetal anomalies v4.192 PPP3CA Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPP3CA.
Tag Q3_24_NHS_review was removed from gene: PPP3CA.
Fetal anomalies v4.192 PPP2R3C Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPP2R3C.
Tag Q3_24_NHS_review was removed from gene: PPP2R3C.
Fetal anomalies v4.192 PPP2CA Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPP2CA.
Tag Q3_24_NHS_review was removed from gene: PPP2CA.
Fetal anomalies v4.192 PPIL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPIL1.
Tag Q3_24_NHS_review was removed from gene: PPIL1.
Fetal anomalies v4.192 PLPBP Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PLPBP.
Tag Q3_24_NHS_review was removed from gene: PLPBP.
Fetal anomalies v4.192 PLEC Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PLEC.
Tag Q3_24_NHS_review was removed from gene: PLEC.
Fetal anomalies v4.192 PIGH Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PIGH.
Tag Q3_24_NHS_review was removed from gene: PIGH.
Fetal anomalies v4.192 PIDD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PIDD1.
Tag Q3_24_NHS_review was removed from gene: PIDD1.
Fetal anomalies v4.192 PHF21A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PHF21A.
Tag Q3_24_NHS_review was removed from gene: PHF21A.
Fetal anomalies v4.192 PGAP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PGAP1.
Tag Q3_24_NHS_review was removed from gene: PGAP1.
Fetal anomalies v4.192 PDE3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PDE3A.
Tag Q3_24_NHS_review was removed from gene: PDE3A.
Fetal anomalies v4.192 PCDH12 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PCDH12.
Tag Q3_24_NHS_review was removed from gene: PCDH12.
Fetal anomalies v4.192 PAX1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PAX1.
Tag Q3_24_NHS_review was removed from gene: PAX1.
Fetal anomalies v4.192 PACS2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PACS2.
Tag Q3_24_NHS_review was removed from gene: PACS2.
Fetal anomalies v4.192 PACS1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PACS1.
Tag Q3_24_NHS_review was removed from gene: PACS1.
Fetal anomalies v4.192 OTUD6B Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: OTUD6B.
Tag Q3_24_NHS_review was removed from gene: OTUD6B.
Fetal anomalies v4.192 NUP188 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NUP188.
Tag Q3_24_NHS_review was removed from gene: NUP188.
Fetal anomalies v4.192 NSRP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NSRP1.
Tag Q3_24_NHS_review was removed from gene: NSRP1.
Fetal anomalies v4.192 NONO Achchuthan Shanmugasundram Tag watchlist was removed from gene: NONO.
Tag Q3_24_promote_green was removed from gene: NONO.
Tag Q3_24_NHS_review was removed from gene: NONO.
Fetal anomalies v4.192 NFIB Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NFIB.
Tag Q3_24_NHS_review was removed from gene: NFIB.
Fetal anomalies v4.192 NFIA Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NFIA.
Tag Q3_24_NHS_review was removed from gene: NFIA.
Fetal anomalies v4.192 MYOD1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: MYOD1.
Tag Q3_24_promote_green was removed from gene: MYOD1.
Tag Q3_24_NHS_review was removed from gene: MYOD1.
Fetal anomalies v4.192 MPDZ Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MPDZ.
Tag Q3_24_NHS_review was removed from gene: MPDZ.
Fetal anomalies v4.192 MINPP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MINPP1.
Tag Q3_24_NHS_review was removed from gene: MINPP1.
Fetal anomalies v4.192 MED27 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MED27.
Tag Q3_24_NHS_review was removed from gene: MED27.
Fetal anomalies v4.192 MED25 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MED25.
Tag Q3_24_NHS_review was removed from gene: MED25.
Fetal anomalies v4.192 MCIDAS Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MCIDAS.
Tag Q3_24_NHS_review was removed from gene: MCIDAS.
Fetal anomalies v4.192 MAPKAPK5 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAPKAPK5.
Tag Q3_24_NHS_review was removed from gene: MAPKAPK5.
Fetal anomalies v4.192 MAN2C1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAN2C1.
Tag Q3_24_NHS_review was removed from gene: MAN2C1.
Fetal anomalies v4.192 MAB21L1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAB21L1.
Tag Q3_24_NHS_review was removed from gene: MAB21L1.
Fetal anomalies v4.192 LTBP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: LTBP1.
Tag Q3_24_NHS_review was removed from gene: LTBP1.
Fetal anomalies v4.192 KIF4A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: KIF4A.
Tag Q3_24_NHS_review was removed from gene: KIF4A.
Fetal anomalies v4.192 KIDINS220 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: KIDINS220.
Tag Q3_24_NHS_review was removed from gene: KIDINS220.
Tag to_be_confirmed_NHSE was removed from gene: KIDINS220.
Fetal anomalies v4.192 JAM3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: JAM3.
Tag Q3_24_NHS_review was removed from gene: JAM3.
Fetal anomalies v4.192 IRX5 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: IRX5.
Tag Q3_24_NHS_review was removed from gene: IRX5.
Fetal anomalies v4.192 INTS1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: INTS1.
Tag Q3_24_NHS_review was removed from gene: INTS1.
Fetal anomalies v4.192 IFT74 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: IFT74.
Tag Q3_24_NHS_review was removed from gene: IFT74.
Fetal anomalies v4.192 HYAL2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HYAL2.
Tag Q3_24_NHS_review was removed from gene: HYAL2.
Fetal anomalies v4.192 HSPA9 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HSPA9.
Tag Q3_24_NHS_review was removed from gene: HSPA9.
Fetal anomalies v4.192 HS2ST1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HS2ST1.
Tag Q3_24_NHS_review was removed from gene: HS2ST1.
Fetal anomalies v4.192 HNRNPH2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HNRNPH2.
Tag Q3_24_NHS_review was removed from gene: HNRNPH2.
Fetal anomalies v4.192 HMX1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HMX1.
Tag Q3_24_NHS_review was removed from gene: HMX1.
Fetal anomalies v4.192 HK1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HK1.
Tag Q3_24_NHS_review was removed from gene: HK1.
Fetal anomalies v4.192 HHAT Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HHAT.
Tag Q3_24_NHS_review was removed from gene: HHAT.
Fetal anomalies v4.192 H3F3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: H3F3A.
Tag Q3_24_NHS_review was removed from gene: H3F3A.
Fetal anomalies v4.192 GTPBP2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GTPBP2.
Tag Q3_24_NHS_review was removed from gene: GTPBP2.
Fetal anomalies v4.192 GRM7 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GRM7.
Tag Q3_24_NHS_review was removed from gene: GRM7.
Fetal anomalies v4.192 GPX4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GPX4.
Tag Q3_24_NHS_review was removed from gene: GPX4.
Fetal anomalies v4.192 GHR Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GHR.
Tag Q3_24_NHS_review was removed from gene: GHR.
Fetal anomalies v4.192 GFRA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GFRA1.
Tag Q3_24_NHS_review was removed from gene: GFRA1.
Fetal anomalies v4.192 GDF11 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GDF11.
Tag Q3_24_NHS_review was removed from gene: GDF11.
Fetal anomalies v4.192 GATA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GATA1.
Tag Q3_24_NHS_review was removed from gene: GATA1.
Fetal anomalies v4.192 FRA10AC1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FRA10AC1.
Tag Q3_24_NHS_review was removed from gene: FRA10AC1.
Fetal anomalies v4.192 FOXJ1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FOXJ1.
Tag Q3_24_NHS_review was removed from gene: FOXJ1.
Fetal anomalies v4.192 FBRSL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FBRSL1.
Tag Q3_24_NHS_review was removed from gene: FBRSL1.
Fetal anomalies v4.192 FAT1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FAT1.
Tag Q3_24_NHS_review was removed from gene: FAT1.
Fetal anomalies v4.192 FAM149B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FAM149B1.
Tag Q3_24_NHS_review was removed from gene: FAM149B1.
Fetal anomalies v4.192 EXOC7 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: EXOC7.
Tag Q3_24_NHS_review was removed from gene: EXOC7.
Fetal anomalies v4.192 ERBB3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ERBB3.
Tag Q3_24_NHS_review was removed from gene: ERBB3.
Fetal anomalies v4.192 ERGIC1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ERGIC1.
Tag Q3_24_NHS_review was removed from gene: ERGIC1.
Fetal anomalies v4.192 EN1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: EN1.
Tag Q3_24_promote_green was removed from gene: EN1.
Tag Q3_24_NHS_review was removed from gene: EN1.
Fetal anomalies v4.192 EFEMP2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: EFEMP2.
Tag Q3_24_NHS_review was removed from gene: EFEMP2.
Fetal anomalies v4.192 EEF2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: EEF2.
Tag Q3_24_NHS_review was removed from gene: EEF2.
Fetal anomalies v4.192 DYNC1I2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DYNC1I2.
Tag Q3_24_NHS_review was removed from gene: DYNC1I2.
Fetal anomalies v4.192 DYNC1I1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DYNC1I1.
Tag Q3_24_NHS_review was removed from gene: DYNC1I1.
Fetal anomalies v4.192 DPF2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DPF2.
Tag Q3_24_NHS_review was removed from gene: DPF2.
Fetal anomalies v4.192 DLL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DLL1.
Tag Q3_24_NHS_review was removed from gene: DLL1.
Fetal anomalies v4.192 DEPDC5 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DEPDC5.
Tag Q3_24_NHS_review was removed from gene: DEPDC5.
Fetal anomalies v4.192 DCC Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DCC.
Tag Q3_24_NHS_review was removed from gene: DCC.
Fetal anomalies v4.192 CYBB Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CYBB.
Tag Q3_24_NHS_review was removed from gene: CYBB.
Fetal anomalies v4.192 CTNNA2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CTNNA2.
Tag Q3_24_NHS_review was removed from gene: CTNNA2.
Fetal anomalies v4.192 COA7 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: COA7.
Tag Q3_24_NHS_review was removed from gene: COA7.
Fetal anomalies v4.192 CLTC Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CLTC.
Tag Q3_24_NHS_review was removed from gene: CLTC.
Fetal anomalies v4.192 CFAP52 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CFAP52.
Tag Q3_24_NHS_review was removed from gene: CFAP52.
Fetal anomalies v4.192 CFAP45 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CFAP45.
Tag Q3_24_NHS_review was removed from gene: CFAP45.
Fetal anomalies v4.192 CEP85L Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CEP85L.
Tag Q3_23_NHS_review was removed from gene: CEP85L.
Fetal anomalies v4.192 CCDC22 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CCDC22.
Tag Q3_24_NHS_review was removed from gene: CCDC22.
Fetal anomalies v4.192 C2orf69 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: C2orf69.
Tag Q3_24_NHS_review was removed from gene: C2orf69.
Fetal anomalies v4.192 C12orf57 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: C12orf57.
Tag Q3_24_NHS_review was removed from gene: C12orf57.
Fetal anomalies v4.192 BRD4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: BRD4.
Tag Q3_24_NHS_review was removed from gene: BRD4.
Fetal anomalies v4.192 BRCA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: BRCA1.
Tag Q3_24_NHS_review was removed from gene: BRCA1.
Fetal anomalies v4.192 ATN1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ATN1.
Tag Q3_24_NHS_review was removed from gene: ATN1.
Fetal anomalies v4.192 ATAD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ATAD1.
Tag Q3_24_NHS_review was removed from gene: ATAD1.
Fetal anomalies v4.192 ARL3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ARL3.
Tag Q3_24_NHS_review was removed from gene: ARL3.
Fetal anomalies v4.192 ARID2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ARID2.
Tag Q3_24_NHS_review was removed from gene: ARID2.
Fetal anomalies v4.192 APC2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: APC2.
Tag Q3_24_NHS_review was removed from gene: APC2.
Fetal anomalies v4.192 AP4S1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AP4S1.
Tag Q3_24_NHS_review was removed from gene: AP4S1.
Fetal anomalies v4.192 AP4B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AP4B1.
Tag Q3_24_NHS_review was removed from gene: AP4B1.
Fetal anomalies v4.192 ANGPT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ANGPT2.
Tag Q3_24_NHS_review was removed from gene: ANGPT2.
Fetal anomalies v4.192 ALPK3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ALPK3.
Tag Q3_24_NHS_review was removed from gene: ALPK3.
Fetal anomalies v4.192 ALG14 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ALG14.
Tag Q3_24_NHS_review was removed from gene: ALG14.
Fetal anomalies v4.192 ALDH1A2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ALDH1A2.
Tag Q3_24_NHS_review was removed from gene: ALDH1A2.
Fetal anomalies v4.192 AFF3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AFF3.
Tag Q3_24_NHS_review was removed from gene: AFF3.
Fetal anomalies v4.192 ADCY6 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ADCY6.
Tag Q3_24_NHS_review was removed from gene: ADCY6.
Fetal anomalies v4.192 ACVRL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ACVRL1.
Tag Q3_24_NHS_review was removed from gene: ACVRL1.
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 ZNF699 Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF699.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ZNF526 Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF526.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ZNF462 Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF462.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ZNF335 Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF335.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ZMYM2 Achchuthan Shanmugasundram Mode of inheritance for gene ZMYM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.191 ZMIZ1 Achchuthan Shanmugasundram Source Expert Review Green was added to ZMIZ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 WWOX Achchuthan Shanmugasundram Source NHS GMS was added to WWOX.
Source Expert Review Green was added to WWOX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 WDR4 Achchuthan Shanmugasundram Source Expert Review Green was added to WDR4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 WDR37 Achchuthan Shanmugasundram Source Expert Review Green was added to WDR37.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 VPS4A Achchuthan Shanmugasundram Source Expert Review Green was added to VPS4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 UBR7 Achchuthan Shanmugasundram Source Expert Review Green was added to UBR7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 UBA2 Achchuthan Shanmugasundram Source Expert Review Green was added to UBA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TSEN15 Achchuthan Shanmugasundram Source NHS GMS was added to TSEN15.
Source Expert Review Green was added to TSEN15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TRRAP Achchuthan Shanmugasundram Source Expert Review Green was added to TRRAP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TRIM71 Achchuthan Shanmugasundram Source Expert Review Green was added to TRIM71.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TP73 Achchuthan Shanmugasundram Source Expert Review Green was added to TP73.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TOR1AIP1 Achchuthan Shanmugasundram Source Expert Review Green was added to TOR1AIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TMTC3 Achchuthan Shanmugasundram Source NHS GMS was added to TMTC3.
Source Expert Review Green was added to TMTC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TMEM218 Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM218.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TLL1 Achchuthan Shanmugasundram Source Expert Review Amber was added to TLL1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
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 v4.191 STT3A Achchuthan Shanmugasundram Source Expert Review Green was added to STT3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SPTB Achchuthan Shanmugasundram Source Expert Review Green was added to SPTB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SPINT2 Achchuthan Shanmugasundram Source Expert Review Green was added to SPINT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SPEN Achchuthan Shanmugasundram Source Expert Review Green was added to SPEN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SOX11 Achchuthan Shanmugasundram Source Expert Review Green was added to SOX11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SMARCD1 Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SMAD2 Achchuthan Shanmugasundram Source Expert Review Green was added to SMAD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SKIV2L Achchuthan Shanmugasundram Source Expert Review Green was added to SKIV2L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SIN3A Achchuthan Shanmugasundram Source Expert Review Green was added to SIN3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SHMT2 Achchuthan Shanmugasundram Source Expert Review Green was added to SHMT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SEMA3A Achchuthan Shanmugasundram Source Expert Review Green was added to SEMA3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SCN5A Achchuthan Shanmugasundram Source Expert Review Green was added to SCN5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SCN3A Achchuthan Shanmugasundram Source Expert Review Green was added to SCN3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SCAF4 Achchuthan Shanmugasundram Source Expert Review Green was added to SCAF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RPL15 Achchuthan Shanmugasundram Source Expert Review Green was added to RPL15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RNU12 Achchuthan Shanmugasundram Source Expert Review Green was added to RNU12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RNF125 Achchuthan Shanmugasundram Source Expert Review Green was added to RNF125.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RNF113A Achchuthan Shanmugasundram Source Expert Review Green was added to RNF113A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RLIM Achchuthan Shanmugasundram Source Expert Review Green was added to RLIM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RBP4 Achchuthan Shanmugasundram Source Expert Review Green was added to RBP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RAD51 Achchuthan Shanmugasundram Source Expert Review Green was added to RAD51.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RAD50 Achchuthan Shanmugasundram Source Expert Review Green was added to RAD50.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PXDN Achchuthan Shanmugasundram Source NHS GMS was added to PXDN.
Source Expert Review Green was added to PXDN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PTPN23 Achchuthan Shanmugasundram Source Expert Review Green was added to PTPN23.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PRR12 Achchuthan Shanmugasundram Source Expert Review Green was added to PRR12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PRF1 Achchuthan Shanmugasundram Source Expert Review Green was added to PRF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PPP3CA Achchuthan Shanmugasundram Source Expert Review Green was added to PPP3CA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PPP2R3C Achchuthan Shanmugasundram Source Expert Review Green was added to PPP2R3C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PPP2CA Achchuthan Shanmugasundram Source Expert Review Green was added to PPP2CA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PPIL1 Achchuthan Shanmugasundram Source Expert Review Green was added to PPIL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PLPBP Achchuthan Shanmugasundram Source NHS GMS was added to PLPBP.
Source Expert Review Green was added to PLPBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PLEC Achchuthan Shanmugasundram Source Expert Review Green was added to PLEC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PIGH Achchuthan Shanmugasundram Source Expert Review Green was added to PIGH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PIDD1 Achchuthan Shanmugasundram Source Expert Review Green was added to PIDD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PHF21A Achchuthan Shanmugasundram Source Expert Review Green was added to PHF21A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PGAP1 Achchuthan Shanmugasundram Source NHS GMS was added to PGAP1.
Source Expert Review Green was added to PGAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PDE3A Achchuthan Shanmugasundram Source Expert Review Green was added to PDE3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PCDH12 Achchuthan Shanmugasundram Source Expert Review Green was added to PCDH12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PAX1 Achchuthan Shanmugasundram Source Expert Review Green was added to PAX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PACS2 Achchuthan Shanmugasundram Source Expert Review Green was added to PACS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PACS1 Achchuthan Shanmugasundram Source Expert Review Green was added to PACS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 OTUD6B Achchuthan Shanmugasundram Source NHS GMS was added to OTUD6B.
Source Expert Review Green was added to OTUD6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NUP188 Achchuthan Shanmugasundram Source Expert Review Green was added to NUP188.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NSRP1 Achchuthan Shanmugasundram Source Expert Review Green was added to NSRP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NONO Achchuthan Shanmugasundram Source Expert Review Green was added to NONO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NFIB Achchuthan Shanmugasundram Source Expert Review Green was added to NFIB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NFIA Achchuthan Shanmugasundram Source Expert Review Green was added to NFIA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MYOD1 Achchuthan Shanmugasundram Source NHS GMS was added to MYOD1.
Source Expert Review Green was added to MYOD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MPDZ Achchuthan Shanmugasundram Source Expert Review Green was added to MPDZ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MINPP1 Achchuthan Shanmugasundram Source Expert Review Green was added to MINPP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MED27 Achchuthan Shanmugasundram Source Expert Review Green was added to MED27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MED25 Achchuthan Shanmugasundram Source Expert Review Green was added to MED25.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MCIDAS Achchuthan Shanmugasundram Source Expert Review Green was added to MCIDAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MAPKAPK5 Achchuthan Shanmugasundram Source Expert Review Green was added to MAPKAPK5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MAN2C1 Achchuthan Shanmugasundram Source Expert Review Green was added to MAN2C1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MAB21L1 Achchuthan Shanmugasundram Source Expert Review Green was added to MAB21L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 LTBP1 Achchuthan Shanmugasundram Source Expert Review Green was added to LTBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 KIF4A Achchuthan Shanmugasundram Source Expert Review Green was added to KIF4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 KIDINS220 Achchuthan Shanmugasundram Source Expert Review Green was added to KIDINS220.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 JAM3 Achchuthan Shanmugasundram Source NHS GMS was added to JAM3.
Source Expert Review Green was added to JAM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 IRX5 Achchuthan Shanmugasundram Source NHS GMS was added to IRX5.
Source Expert Review Green was added to IRX5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 INTS1 Achchuthan Shanmugasundram Source Expert Review Green was added to INTS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 IFT74 Achchuthan Shanmugasundram Source Expert Review Green was added to IFT74.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HYAL2 Achchuthan Shanmugasundram Source Expert Review Green was added to HYAL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HSPA9 Achchuthan Shanmugasundram Source Expert Review Green was added to HSPA9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HS2ST1 Achchuthan Shanmugasundram Source Expert Review Green was added to HS2ST1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HNRNPH2 Achchuthan Shanmugasundram Source NHS GMS was added to HNRNPH2.
Source Expert Review Green was added to HNRNPH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HMX1 Achchuthan Shanmugasundram Source NHS GMS was added to HMX1.
Source Expert Review Green was added to HMX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HK1 Achchuthan Shanmugasundram Source Expert Review Green was added to HK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HHAT Achchuthan Shanmugasundram Source Expert Review Green was added to HHAT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 H3F3A Achchuthan Shanmugasundram Source Expert Review Green was added to H3F3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GTPBP2 Achchuthan Shanmugasundram Source Expert Review Green was added to GTPBP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GRM7 Achchuthan Shanmugasundram Source Expert Review Green was added to GRM7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GPX4 Achchuthan Shanmugasundram Source NHS GMS was added to GPX4.
Source Expert Review Green was added to GPX4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GHR Achchuthan Shanmugasundram Source Expert Review Green was added to GHR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GFRA1 Achchuthan Shanmugasundram Source NHS GMS was added to GFRA1.
Source Expert Review Green was added to GFRA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GDF11 Achchuthan Shanmugasundram Source Expert Review Green was added to GDF11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GATA1 Achchuthan Shanmugasundram Source NHS GMS was added to GATA1.
Source Expert Review Green was added to GATA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FRA10AC1 Achchuthan Shanmugasundram Source Expert Review Green was added to FRA10AC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FOXJ1 Achchuthan Shanmugasundram Source Expert Review Green was added to FOXJ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FBRSL1 Achchuthan Shanmugasundram Source Expert Review Green was added to FBRSL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FAT1 Achchuthan Shanmugasundram Source Expert Review Green was added to FAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FAM149B1 Achchuthan Shanmugasundram Source Expert Review Green was added to FAM149B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 EXOC7 Achchuthan Shanmugasundram Source Expert Review Green was added to EXOC7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ERGIC1 Achchuthan Shanmugasundram Source Expert Review Green was added to ERGIC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ERBB3 Achchuthan Shanmugasundram Source Expert Review Green was added to ERBB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 EN1 Achchuthan Shanmugasundram Source NHS GMS was added to EN1.
Source Expert Review Green was added to EN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 EFEMP2 Achchuthan Shanmugasundram Source Expert Review Green was added to EFEMP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 EEF2 Achchuthan Shanmugasundram Source Expert Review Green was added to EEF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DYNC1I2 Achchuthan Shanmugasundram Source Expert Review Green was added to DYNC1I2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DYNC1I1 Achchuthan Shanmugasundram Source Expert Review Green was added to DYNC1I1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DPF2 Achchuthan Shanmugasundram Source Expert Review Green was added to DPF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DLL1 Achchuthan Shanmugasundram Source Expert Review Green was added to DLL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DEPDC5 Achchuthan Shanmugasundram Source NHS GMS was added to DEPDC5.
Source Expert Review Green was added to DEPDC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DCC Achchuthan Shanmugasundram Source NHS GMS was added to DCC.
Source Expert Review Green was added to DCC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CYBB Achchuthan Shanmugasundram Source Expert Review Green was added to CYBB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CTNNA2 Achchuthan Shanmugasundram Source Expert Review Green was added to CTNNA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 COA7 Achchuthan Shanmugasundram Source Expert Review Green was added to COA7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CLTC Achchuthan Shanmugasundram Source Expert Review Green was added to CLTC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CFAP52 Achchuthan Shanmugasundram Source Expert Review Green was added to CFAP52.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CFAP45 Achchuthan Shanmugasundram Source Expert Review Green was added to CFAP45.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CEP85L Achchuthan Shanmugasundram Source Expert Review Green was added to CEP85L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CELSR1 Achchuthan Shanmugasundram Source Expert Review Amber was added to CELSR1.
Source NHS GMS was added to CELSR1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v4.191 CCDC22 Achchuthan Shanmugasundram Source NHS GMS was added to CCDC22.
Source Expert Review Green was added to CCDC22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 C2orf69 Achchuthan Shanmugasundram Source Expert Review Green was added to C2orf69.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 C12orf57 Achchuthan Shanmugasundram Source NHS GMS was added to C12orf57.
Source Expert Review Green was added to C12orf57.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 BRD4 Achchuthan Shanmugasundram Source Expert Review Green was added to BRD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 BRCA1 Achchuthan Shanmugasundram Source Expert Review Green was added to BRCA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ATN1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ATAD1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATAD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ARL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ARL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ARID2 Achchuthan Shanmugasundram Source Expert Review Green was added to ARID2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 APC2 Achchuthan Shanmugasundram Source Expert Review Green was added to APC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 AP4S1 Achchuthan Shanmugasundram Source NHS GMS was added to AP4S1.
Source Expert Review Green was added to AP4S1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 AP4B1 Achchuthan Shanmugasundram Source NHS GMS was added to AP4B1.
Source Expert Review Green was added to AP4B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ANGPT2 Achchuthan Shanmugasundram Source Expert Review Green was added to ANGPT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ALPK3 Achchuthan Shanmugasundram Source Expert Review Green was added to ALPK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ALG14 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ALDH1A2 Achchuthan Shanmugasundram Source Expert Review Green was added to ALDH1A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 AFF3 Achchuthan Shanmugasundram Source Expert Review Green was added to AFF3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ADCY6 Achchuthan Shanmugasundram Source Expert Review Green was added to ADCY6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ACVRL1 Achchuthan Shanmugasundram Source Expert Review Green was added to ACVRL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.190 MYBBP1A Sarah Leigh Classified gene: MYBBP1A as Amber List (moderate 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 v4.190 MYBBP1A Sarah Leigh Gene: mybbp1a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.189 MYBBP1A Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: MYBBP1A.
Tag Q3_24_MOI tag was added to gene: MYBBP1A.
Fetal anomalies v4.189 MYBBP1A Sarah Leigh Tag Q3_24_promote_green tag was added to gene: MYBBP1A.
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 v4.189 MYBBP1A Sarah Leigh Classified gene: MYBBP1A as Amber List (moderate evidence)
Fetal anomalies v4.189 MYBBP1A Sarah Leigh Gene: mybbp1a has been classified as Amber List (Moderate Evidence).
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 v4.187 TTI2 Achchuthan Shanmugasundram Phenotypes for gene: TTI2 were changed from Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly; AUTOSOMAL RECESSIVE MENTAL RETARDATION to Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly
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 v4.185 SLC5A5 Achchuthan Shanmugasundram Publications for gene: SLC5A5 were set to
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 v4.183 KCNQ1 Achchuthan Shanmugasundram Phenotypes for gene: KCNQ1 were changed from Long QT syndrome 1, OMIM:192500; JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 to Long QT syndrome 1, OMIM:192500
Fetal anomalies v4.182 ITPR1 Achchuthan Shanmugasundram Phenotypes for gene: ITPR1 were changed from SPINOCEREBELLAR ATAXIA TYPE15; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE; Gillespie Syndrome to Spinocerebellar ataxia 29, congenital nonprogressive, OMIM:117360; Spinocerebellar ataxia 15, OMIM:606658; Gillespie syndrome, OMIM:206700
Fetal anomalies v4.181 FRMPD4 Achchuthan Shanmugasundram Phenotypes for gene: FRMPD4 were changed from Intellectual Disability; Intellectual Disability, X-linked 104, OMIM:300983 to Intellectual Disability, X-linked 104, OMIM:300983
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 v4.177 CLMP Achchuthan Shanmugasundram Phenotypes for gene: CLMP were changed from CONGENITAL SHORT BOWEL SYNDROME; Congenital short bowel syndrome, OMIM:615237 to Congenital short bowel syndrome, OMIM:615237
Fetal anomalies v4.176 AUTS2 Achchuthan Shanmugasundram Phenotypes for gene: AUTS2 were changed from SYNDROMIC INTELLECTUAL DISABILITY to Intellectual developmental disorder, autosomal dominant 26, OMIM:615834
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 v4.174 AIMP1 Achchuthan Shanmugasundram Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, OMIM:260600; LEUKODYSTROPHY, HYPOMYELINATING, 3 to Leukodystrophy, hypomyelinating, 3, OMIM:260600
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 v4.172 ZFPM2 Achchuthan Shanmugasundram Publications for gene: ZFPM2 were set to 24702427
Fetal anomalies v4.171 ZFPM2 Achchuthan Shanmugasundram Phenotypes for gene: ZFPM2 were changed from Diaphragmatic hernia 3, OMIM:610187 to Diaphragmatic hernia 3, OMIM:610187; Tetralogy of Fallot, OMIM:187500
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 v4.169 UNC13D Achchuthan Shanmugasundram Publications for gene: UNC13D were set to 33249554
Fetal anomalies v4.168 UNC13D Achchuthan Shanmugasundram Phenotypes for gene: UNC13D were changed from Pancytopenia; ?Hydrops fetalis to Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898
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 v4.166 TRAPPC11 Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC11 were changed from MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S to Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356
Fetal anomalies v4.165 TRAPPC11 Achchuthan Shanmugasundram Publications for gene: TRAPPC11 were set to
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 v4.162 SNAP29 Achchuthan Shanmugasundram Publications for gene: SNAP29 were set to 15968592; 21073448; 28388629
Fetal anomalies v4.161 SLC4A1 Achchuthan Shanmugasundram Phenotypes for gene: SLC4A1 were changed from RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR; Ovalocytosis, SA type, OMIM:166900 to Ovalocytosis, SA type, OMIM:166900
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 v4.159 RIN2 Achchuthan Shanmugasundram Publications for gene: RIN2 were set to
Fetal anomalies v4.158 RIN2 Achchuthan Shanmugasundram Phenotypes for gene: RIN2 were changed from MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS to Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075
Fetal anomalies v4.157 RAD51C Achchuthan Shanmugasundram Phenotypes for gene: RAD51C were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP 0 to Fanconi anemia, complementation group O, OMIM:613390
Fetal anomalies v4.156 RAD51C Achchuthan Shanmugasundram Publications for gene: RAD51C were set to
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 v4.154 QARS Achchuthan Shanmugasundram Phenotypes for gene: QARS were changed from MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760
Fetal anomalies v4.153 QARS Achchuthan Shanmugasundram Publications for gene: QARS were set to
Fetal anomalies v4.152 POLD1 Achchuthan Shanmugasundram Phenotypes for gene: POLD1 were changed from Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381; SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
Fetal anomalies v4.151 PLOD3 Achchuthan Shanmugasundram Publications for gene: PLOD3 were set to 18834968; 33743358
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 v4.149 PLAA Achchuthan Shanmugasundram Publications for gene: PLAA were set to
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 v4.143 MITF Achchuthan Shanmugasundram Publications for gene: MITF were set to 27889061
Fetal anomalies v4.142 MGAT2 Achchuthan Shanmugasundram Phenotypes for gene: MGAT2 were changed from Congenital disorder of glycosylation, type Iia, OMIM:212066 to Congenital disorder of glycosylation, type IIa, OMIM:212066
Fetal anomalies v4.141 MGAT2 Achchuthan Shanmugasundram Phenotypes for gene: MGAT2 were changed from Congenital disorder of glycosylation, type Iia, OMIM:212066; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A to Congenital disorder of glycosylation, type Iia, OMIM:212066
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 v4.139 MED17 Achchuthan Shanmugasundram Publications for gene: MED17 were set to
Fetal anomalies v4.138 MAMLD1 Achchuthan Shanmugasundram Phenotypes for gene: MAMLD1 were changed from X-LINKED HYPOSPADIAS TYPE 2 to Hypospadias 2, OMIM:300758
Fetal anomalies v4.137 MAMLD1 Achchuthan Shanmugasundram Publications for gene: MAMLD1 were set to
Fetal anomalies v4.136 KDM1A Achchuthan Shanmugasundram Phenotypes for gene: KDM1A were changed from Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728; Developmental delay and distinctive facial features to Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728
Fetal anomalies v4.135 KCNH1 Achchuthan Shanmugasundram Phenotypes for gene: KCNH1 were changed from Zimmermann-Laband syndrome 1, OMIM:135500; TEMPLE BARRAISTER SYNDROME to Zimmermann-Laband syndrome 1, OMIM:135500
Fetal anomalies v4.134 HIST1H4C Achchuthan Shanmugasundram Phenotypes for gene: HIST1H4C were changed from HIST1H4C; Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758 to Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758
Fetal anomalies v4.133 GLMN Achchuthan Shanmugasundram Phenotypes for gene: GLMN were changed from Glomulovenous malformations, OMIM:138000; GLOMUVENOUS MALFORMATIONS to Glomulovenous malformations, OMIM:138000
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 v4.131 FGF9 Achchuthan Shanmugasundram Phenotypes for gene: FGF9 were changed from Multiple synostoses syndrome 3, OMIM:612961; MULTIPLE SYNOSTOSES SYNDROME TYPE 3 to Multiple synostoses syndrome 3, OMIM:612961
Fetal anomalies v4.130 EMC1 Achchuthan Shanmugasundram Phenotypes for gene: EMC1 were changed from Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.; Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 to Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875
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 v4.128 DOCK7 Achchuthan Shanmugasundram Publications for gene: DOCK7 were set to
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 v4.126 DNAJC19 Achchuthan Shanmugasundram Publications for gene: DNAJC19 were set to
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 v4.124 CTDP1 Achchuthan Shanmugasundram Publications for gene: CTDP1 were set to 24690360; 14517542; 20301787; 29174527
Fetal anomalies v4.123 CPAMD8 Achchuthan Shanmugasundram Phenotypes for gene: CPAMD8 were changed from Anterior Segment Dysgenesis to Anterior segment dysgenesis 8, OMIM:617319
Fetal anomalies v4.122 CPAMD8 Achchuthan Shanmugasundram Publications for gene: CPAMD8 were set to
Fetal anomalies v4.121 COLGALT1 Achchuthan Shanmugasundram Phenotypes for gene: COLGALT1 were changed from Brain small vessel disease 3, MIM# 618360 to Brain small vessel disease 3, OMIM:618360
Fetal anomalies v4.120 CELSR1 Achchuthan Shanmugasundram Publications for gene: CELSR1 were set to
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 v4.118 CACNA1D Achchuthan Shanmugasundram Publications for gene: CACNA1D were set to 32410215
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 v4.115 ASXL2 Achchuthan Shanmugasundram Phenotypes for gene: ASXL2 were changed from Developmental delay, macrocephaly, and dysmorphic features; Shashi-Pena syndrome, OMIM:617190 to Shashi-Pena syndrome, OMIM:617190
Fetal anomalies v4.114 AP4M1 Achchuthan Shanmugasundram Phenotypes for gene: AP4M1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 to Spastic paraplegia 50, autosomal recessive, OMIM:612936
Fetal anomalies v4.113 AP4M1 Achchuthan Shanmugasundram Publications for gene: AP4M1 were set to
Fetal anomalies v4.112 AGT Achchuthan Shanmugasundram Publications for gene: AGT were set to 28976722
Fetal anomalies v4.111 ACVR1 Achchuthan Shanmugasundram Phenotypes for gene: ACVR1 were changed from FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; Fibrodysplasia ossificans progressiva, OMIM:135100 to Fibrodysplasia ossificans progressiva, OMIM:135100
Fetal anomalies v4.110 AARS Achchuthan Shanmugasundram Publications for gene: AARS were set to
Fetal anomalies v4.109 ZNF699 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF699.
Tag Q3_24_NHS_review tag was added to gene: ZNF699.
Fetal anomalies v4.109 ZNF526 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF526.
Tag Q3_24_NHS_review tag was added to gene: ZNF526.
Fetal anomalies v4.109 ZNF462 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF462.
Tag Q3_24_NHS_review tag was added to gene: ZNF462.
Fetal anomalies v4.109 ZNF335 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF335.
Tag Q3_24_NHS_review tag was added to gene: ZNF335.
Fetal anomalies v4.109 ZMYM2 Achchuthan Shanmugasundram Publications for gene: ZMYM2 were set to
Fetal anomalies v4.108 ZMYM2 Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: ZMYM2.
Fetal anomalies v4.108 ZMYM2 Achchuthan Shanmugasundram Tag Q3_24_MOI tag was added to gene: ZMYM2.
Fetal anomalies v4.108 ZMIZ1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZMIZ1.
Tag Q3_24_NHS_review tag was added to gene: ZMIZ1.
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 v4.107 WWOX Achchuthan Shanmugasundram Publications for gene: WWOX were set to
Fetal anomalies v4.106 WWOX Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WWOX.
Tag Q3_24_NHS_review tag was added to gene: WWOX.
Fetal anomalies v4.106 WDR4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WDR4.
Tag Q3_24_NHS_review tag was added to gene: WDR4.
Fetal anomalies v4.106 WDR37 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WDR37.
Tag Q3_24_NHS_review tag was added to gene: WDR37.
Fetal anomalies v4.106 VPS4A Achchuthan Shanmugasundram edited their review of gene: VPS4A: Changed phenotypes to: CIMDAG syndrome, MIM #619273
Fetal anomalies v4.106 VPS4A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: VPS4A.
Tag Q3_24_NHS_review tag was added to gene: VPS4A.
Fetal anomalies v4.106 UBA2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: UBA2.
Tag Q3_24_NHS_review tag was added to gene: UBA2.
Fetal anomalies v4.106 TSEN15 Achchuthan Shanmugasundram Phenotypes for gene: TSEN15 were changed from Pontocerebellar Hypoplasia and Progressive Microcephaly to Pontocerebellar hypoplasia, type 2F, OMIM:617026
Fetal anomalies v4.105 TSEN15 Achchuthan Shanmugasundram Publications for gene: TSEN15 were set to
Fetal anomalies v4.104 TSEN15 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TSEN15.
Tag Q3_24_NHS_review tag was added to gene: TSEN15.
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 TRRAP Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TRRAP.
Tag Q3_24_NHS_review tag was added to gene: TRRAP.
Fetal anomalies v4.103 TRIM71 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TRIM71.
Tag Q3_24_NHS_review tag was added to gene: TRIM71.
Fetal anomalies v4.103 TP73 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TP73.
Tag Q3_24_NHS_review tag was added to gene: TP73.
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 v4.102 TOR1AIP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TOR1AIP1.
Tag Q3_24_NHS_review tag was added to gene: TOR1AIP1.
Fetal anomalies v4.102 TMTC3 Achchuthan Shanmugasundram Phenotypes for gene: TMTC3 were changed from Lissencephaly 8, OMIM:617255 to Lissencephaly 8, OMIM:617255
Fetal anomalies v4.102 TMTC3 Achchuthan Shanmugasundram Phenotypes for gene: TMTC3 were changed from Cobblestone Lissencephaly to Lissencephaly 8, OMIM:617255
Fetal anomalies v4.101 TMTC3 Achchuthan Shanmugasundram Publications for gene: TMTC3 were set to
Fetal anomalies v4.100 TMTC3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TMTC3.
Tag Q3_24_NHS_review tag was added to gene: TMTC3.
Fetal anomalies v4.100 TMEM218 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TMEM218.
Tag Q3_24_NHS_review tag was added to gene: TMEM218.
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 v4.98 STT3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: STT3A.
Tag Q3_24_NHS_review tag was added to gene: STT3A.
Fetal anomalies v4.98 SPTB Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SPTB.
Tag Q3_24_NHS_review tag was added to gene: SPTB.
Fetal anomalies v4.98 SPINT2 Achchuthan Shanmugasundram Phenotypes for gene: SPINT2 were changed from congenital secretory sodium diarrhea 3, MONDO:0010036; Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420 to Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420; congenital secretory sodium diarrhea 3, MONDO:0010036
Fetal anomalies v4.97 SPINT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SPINT2.
Tag Q3_24_NHS_review tag was added to gene: SPINT2.
Fetal anomalies v4.97 SPEN Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SPEN.
Tag Q3_24_NHS_review tag was added to gene: SPEN.
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 v4.96 SOX11 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SOX11.
Tag Q3_24_NHS_review tag was added to gene: SOX11.
Fetal anomalies v4.96 SMARCD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SMARCD1.
Tag Q3_24_NHS_review tag was added to gene: SMARCD1.
Fetal anomalies v4.96 SMAD2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SMAD2.
Tag Q3_24_NHS_review tag was added to gene: SMAD2.
Fetal anomalies v4.96 SKIV2L Achchuthan Shanmugasundram Phenotypes for gene: SKIV2L were changed from Trichohepatoenteric syndrome 2, OMIM:614602; TRICHOHEPATOENTERIC SYNDROME 2 to Trichohepatoenteric syndrome 2, OMIM:614602
Fetal anomalies v4.95 SKIV2L Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SKIV2L.
Tag Q3_24_NHS_review tag was added to gene: SKIV2L.
Fetal anomalies v4.95 SIN3A Achchuthan Shanmugasundram Phenotypes for gene: SIN3A were changed from Witteveen-Kolk syndrome, OMIM:613406 to Witteveen-Kolk syndrome, OMIM:613406
Fetal anomalies v4.94 SIN3A Achchuthan Shanmugasundram Phenotypes for gene: SIN3A were changed from SYNDROMIC INTELLECTUAL DISABILITY; Witteveen-Kolk syndrome, OMIM:613406 to Witteveen-Kolk syndrome, OMIM:613406
Fetal anomalies v4.93 SIN3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SIN3A.
Tag Q3_24_NHS_review tag was added to gene: SIN3A.
Fetal anomalies v4.93 SHMT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SHMT2.
Tag Q3_24_NHS_review tag was added to gene: SHMT2.
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 SEMA3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SEMA3A.
Tag Q3_24_NHS_review tag was added to gene: SEMA3A.
Fetal anomalies v4.91 SCN5A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SCN5A.
Tag Q3_24_NHS_review tag was added to gene: SCN5A.
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 v4.89 SCN3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SCN3A.
Tag Q3_24_NHS_review tag was added to gene: SCN3A.
Fetal anomalies v4.89 SCAF4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SCAF4.
Tag Q3_24_NHS_review tag was added to gene: SCAF4.
Fetal anomalies v4.89 RPL15 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RPL15.
Tag Q3_24_NHS_review tag was added to gene: RPL15.
Fetal anomalies v4.89 RNU12 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RNU12.
Tag Q3_24_NHS_review tag was added to gene: RNU12.
Fetal anomalies v4.89 RNF125 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RNF125.
Tag Q3_24_NHS_review tag was added to gene: RNF125.
Fetal anomalies v4.89 RNF113A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RNF113A.
Tag Q3_24_NHS_review tag was added to gene: RNF113A.
Fetal anomalies v4.89 RLIM Achchuthan Shanmugasundram Phenotypes for gene: RLIM were changed from Tonne-Kalscheuer syndrome, OMIM:300978; INTELLECTUAL DISABILITY to Tonne-Kalscheuer syndrome, OMIM:300978
Fetal anomalies v4.88 RLIM Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RLIM.
Tag Q3_24_NHS_review tag was added to gene: RLIM.
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 v4.88 RBP4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RBP4.
Tag Q3_24_NHS_review tag was added to gene: RBP4.
Fetal anomalies v4.88 RAD51 Achchuthan Shanmugasundram Phenotypes for gene: RAD51 were changed from Fanconi anaemia, complementation group R, MIM# 617244; MIRROR MOVEMENTS 2 to Fanconi anaemia, complementation group R, OMIM:617244
Fetal anomalies v4.87 RAD51 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RAD51.
Tag Q3_24_NHS_review tag was added to gene: RAD51.
Fetal anomalies v4.87 RAD50 Achchuthan Shanmugasundram Phenotypes for gene: RAD50 were changed from MONDO:0013118; Nijmegen breakage syndrome-like disorder, OMIM:613078 to Nijmegen breakage syndrome-like disorder, OMIM:613078; MONDO:0013118
Fetal anomalies v4.86 RAD50 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RAD50.
Tag Q3_24_NHS_review tag was added to gene: RAD50.
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 v4.85 PXDN Achchuthan Shanmugasundram Publications for gene: PXDN were set to
Fetal anomalies v4.84 PXDN Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PXDN.
Tag Q3_24_NHS_review tag was added to gene: PXDN.
Fetal anomalies v4.84 PTPN23 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PTPN23.
Tag Q3_24_NHS_review tag was added to gene: PTPN23.
Fetal anomalies v4.84 PRR12 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PRR12.
Tag Q3_24_NHS_review tag was added to gene: PRR12.
Fetal anomalies v4.84 PRF1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PRF1.
Tag Q3_24_NHS_review tag was added to gene: PRF1.
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 v4.83 PPP3CA Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPP3CA.
Tag Q3_24_NHS_review tag was added to gene: PPP3CA.
Fetal anomalies v4.83 PPP2R3C Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPP2R3C.
Tag Q3_24_NHS_review tag was added to gene: PPP2R3C.
Fetal anomalies v4.83 PPP2CA Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPP2CA.
Tag Q3_24_NHS_review tag was added to gene: PPP2CA.
Fetal anomalies v4.83 PPIL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPIL1.
Tag Q3_24_NHS_review tag was added to gene: PPIL1.
Fetal anomalies v4.83 PLPBP Achchuthan Shanmugasundram Phenotypes for gene: PLPBP were changed from Vitamin-B6-Dependent Epilepsy to Epilepsy, early-onset, vitamin B6-dependent, OMIM:617290
Fetal anomalies v4.82 PLPBP Achchuthan Shanmugasundram Publications for gene: PLPBP were set to
Fetal anomalies v4.81 PLPBP Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PLPBP.
Tag Q3_24_NHS_review tag was added to gene: PLPBP.
Fetal anomalies v4.81 PLEC Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PLEC.
Tag Q3_24_NHS_review tag was added to gene: PLEC.
Fetal anomalies v4.81 PIGH Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PIGH.
Tag Q3_24_NHS_review tag was added to gene: PIGH.
Fetal anomalies v4.81 PIDD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PIDD1.
Tag Q3_24_NHS_review tag was added to gene: PIDD1.
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 PHF21A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PHF21A.
Tag Q3_24_NHS_review tag was added to gene: PHF21A.
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 v4.79 PGAP1 Achchuthan Shanmugasundram Publications for gene: PGAP1 were set to
Fetal anomalies v4.78 PGAP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PGAP1.
Tag Q3_24_NHS_review tag was added to gene: PGAP1.
Fetal anomalies v4.78 PDE3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PDE3A.
Tag Q3_24_NHS_review tag was added to gene: PDE3A.
Fetal anomalies v4.78 PCDH12 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PCDH12.
Tag Q3_24_NHS_review tag was added to gene: PCDH12.
Fetal anomalies v4.78 PAX1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PAX1.
Tag Q3_24_NHS_review tag was added to gene: PAX1.
Fetal anomalies v4.78 PACS2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PACS2.
Tag Q3_24_NHS_review tag was added to gene: PACS2.
Fetal anomalies v4.78 PACS1 Achchuthan Shanmugasundram Phenotypes for gene: PACS1 were changed from Schuurs-Hoeijmakers syndrome, OMIM:615009; INTELLECTUAL DISABILITY to Schuurs-Hoeijmakers syndrome, OMIM:615009
Fetal anomalies v4.77 PACS1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PACS1.
Tag Q3_24_NHS_review tag was added to gene: PACS1.
Fetal anomalies v4.77 OTUD6B Achchuthan Shanmugasundram Publications for gene: OTUD6B were set to
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 OTUD6B Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: OTUD6B.
Tag Q3_24_NHS_review tag was added to gene: OTUD6B.
Fetal anomalies v4.75 NUP188 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NUP188.
Tag Q3_24_NHS_review tag was added to gene: NUP188.
Fetal anomalies v4.75 NSRP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NSRP1.
Tag Q3_24_NHS_review tag was added to gene: NSRP1.
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 NONO Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NONO.
Tag Q3_24_NHS_review tag was added to gene: NONO.
Fetal anomalies v4.74 NFIB Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NFIB.
Tag Q3_24_NHS_review tag was added to gene: NFIB.
Fetal anomalies v4.74 NFIA Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NFIA.
Tag Q3_24_NHS_review tag was added to gene: NFIA.
Fetal anomalies v4.74 MYOD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MYOD1.
Tag Q3_24_NHS_review tag was added to gene: MYOD1.
Fetal anomalies v4.74 MPDZ Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MPDZ.
Tag Q3_24_NHS_review tag was added to gene: MPDZ.
Fetal anomalies v4.74 MINPP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MINPP1.
Tag Q3_24_NHS_review tag was added to gene: MINPP1.
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 MED27 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MED27.
Tag Q3_24_NHS_review tag was added to gene: MED27.
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 v4.72 MED25 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MED25.
Tag Q3_24_NHS_review tag was added to gene: MED25.
Fetal anomalies v4.72 MCIDAS Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MCIDAS.
Tag Q3_24_NHS_review tag was added to gene: MCIDAS.
Fetal anomalies v4.72 MAPKAPK5 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAPKAPK5.
Tag Q3_24_NHS_review tag was added to gene: MAPKAPK5.
Fetal anomalies v4.72 MAN2C1 Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, MIM# 619775 to Congenital disorder of deglycosylation 2, OMIM:619775
Fetal anomalies v4.71 MAN2C1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAN2C1.
Tag Q3_24_NHS_review tag was added to gene: MAN2C1.
Fetal anomalies v4.71 MAB21L1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAB21L1.
Tag Q3_24_NHS_review tag was added to gene: MAB21L1.
Fetal anomalies v4.71 LTBP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LTBP1.
Tag Q3_24_NHS_review tag was added to gene: LTBP1.
Fetal anomalies v4.71 KIF4A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: KIF4A.
Tag Q3_24_NHS_review tag was added to gene: KIF4A.
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 v4.70 KIDINS220 Achchuthan Shanmugasundram Publications for gene: KIDINS220 were set to 33205811; 28934391; 22048169
Fetal anomalies v4.69 KIDINS220 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: KIDINS220.
Tag Q3_24_NHS_review tag was added to gene: KIDINS220.
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 v4.68 JAM3 Achchuthan Shanmugasundram Publications for gene: JAM3 were set to
Fetal anomalies v4.67 JAM3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: JAM3.
Tag Q3_24_NHS_review tag was added to gene: JAM3.
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 v4.66 IRX5 Achchuthan Shanmugasundram Publications for gene: IRX5 were set to
Fetal anomalies v4.65 IRX5 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: IRX5.
Tag Q3_24_NHS_review tag was added to gene: IRX5.
Fetal anomalies v4.65 INTS1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: INTS1.
Tag Q3_24_NHS_review tag was added to gene: INTS1.
Fetal anomalies v4.65 IFT74 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: IFT74.
Tag Q3_24_NHS_review tag was added to gene: IFT74.
Fetal anomalies v4.65 HYAL2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HYAL2.
Tag Q3_24_NHS_review tag was added to gene: HYAL2.
Fetal anomalies v4.65 HSPA9 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HSPA9.
Tag Q3_24_NHS_review tag was added to gene: HSPA9.
Fetal anomalies v4.65 HS2ST1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HS2ST1.
Tag Q3_24_NHS_review tag was added to gene: HS2ST1.
Fetal anomalies v4.65 HNRNPH2 Achchuthan Shanmugasundram Phenotypes for gene: HNRNPH2 were changed from Neurodevelopmental Disorder in Females to Intellectual developmental disorder, X-linked, syndromic, Bain type, OMIM:300986
Fetal anomalies v4.64 HNRNPH2 Achchuthan Shanmugasundram Publications for gene: HNRNPH2 were set to
Fetal anomalies v4.63 HNRNPH2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HNRNPH2.
Tag Q3_24_NHS_review tag was added to gene: HNRNPH2.
Fetal anomalies v4.63 HMX1 Achchuthan Shanmugasundram Phenotypes for gene: HMX1 were changed from OCULOAURICULAR SYNDROME to Oculoauricular syndrome, OMIM:612109
Fetal anomalies v4.62 HMX1 Achchuthan Shanmugasundram Publications for gene: HMX1 were set to
Fetal anomalies v4.61 HMX1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HMX1.
Tag Q3_24_NHS_review tag was added to gene: HMX1.
Fetal anomalies v4.61 HK1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HK1.
Tag Q3_24_NHS_review tag was added to gene: HK1.
Fetal anomalies v4.61 HHAT Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HHAT.
Tag Q3_24_NHS_review tag was added to gene: HHAT.
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 v4.60 H3F3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: H3F3A.
Tag Q3_24_NHS_review tag was added to gene: H3F3A.
Fetal anomalies v4.60 GTPBP2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GTPBP2.
Tag Q3_24_NHS_review tag was added to gene: GTPBP2.
Fetal anomalies v4.60 GRM7 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GRM7.
Tag Q3_24_NHS_review tag was added to gene: GRM7.
Fetal anomalies v4.60 GPX4 Achchuthan Shanmugasundram Publications for gene: GPX4 were set to
Fetal anomalies v4.59 GPX4 Achchuthan Shanmugasundram Phenotypes for gene: GPX4 were changed from SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE to Spondylometaphyseal dysplasia, Sedaghatian type, OMIM:250220
Fetal anomalies v4.58 GPX4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GPX4.
Tag Q3_24_NHS_review tag was added to gene: GPX4.
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 v4.57 GHR Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GHR.
Tag Q3_24_NHS_review tag was added to gene: GHR.
Fetal anomalies v4.57 GFRA1 Achchuthan Shanmugasundram Publications for gene: GFRA1 were set to 33020172
Fetal anomalies v4.56 GFRA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GFRA1.
Tag Q3_24_NHS_review tag was added to gene: GFRA1.
Fetal anomalies v4.56 GDF11 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GDF11.
Tag Q3_24_NHS_review tag was added to gene: GDF11.
Fetal anomalies v4.56 GATA1 Achchuthan Shanmugasundram Tag Q3_24_expert_review was removed from gene: GATA1.
Tag Q3_24_NHS_review tag was added to gene: GATA1.
Fetal anomalies v4.56 FRA10AC1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FRA10AC1.
Tag Q3_24_NHS_review tag was added to gene: FRA10AC1.
Fetal anomalies v4.56 FOXJ1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FOXJ1.
Tag Q3_24_NHS_review tag was added to gene: FOXJ1.
Fetal anomalies v4.56 FBRSL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FBRSL1.
Tag Q3_24_NHS_review tag was added to gene: FBRSL1.
Fetal anomalies v4.56 FBRSL1 Achchuthan Shanmugasundram Phenotypes for gene: FBRSL1 were changed from congenital heart defect; Congenital malformations to Congenital heart defect; Congenital malformations
Fetal anomalies v4.55 FAT1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAT1.
Tag Q3_24_NHS_review tag was added to gene: FAT1.
Fetal anomalies v4.55 FAM149B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAM149B1.
Tag Q3_24_NHS_review tag was added to gene: FAM149B1.
Fetal anomalies v4.55 EXOC7 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EXOC7.
Tag Q3_24_NHS_review tag was added to gene: EXOC7.
Fetal anomalies v4.55 ERGIC1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ERGIC1.
Tag Q3_24_NHS_review tag was added to gene: ERGIC1.
Fetal anomalies v4.55 ERBB3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ERBB3.
Tag Q3_24_NHS_review tag was added to gene: ERBB3.
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 v4.55 EN1 Achchuthan Shanmugasundram Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, OMIM:619217; ENDOVE syndrome, limb-brain type, OMIM:619218 to ENDOVE syndrome, limb-brain type, OMIM:619218
Fetal anomalies v4.54 EN1 Achchuthan Shanmugasundram Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218 to ENDOVE syndrome, limb-only type, OMIM:619217; ENDOVE syndrome, limb-brain type, OMIM:619218
Fetal anomalies v4.53 EN1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EN1.
Tag Q3_24_NHS_review tag was added to gene: EN1.
Fetal anomalies v4.53 EFEMP2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EFEMP2.
Tag Q3_24_NHS_review tag was added to gene: EFEMP2.
Fetal anomalies v4.53 EEF2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EEF2.
Tag Q3_24_NHS_review tag was added to gene: EEF2.
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 v4.51 DYNC1I2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DYNC1I2.
Tag Q3_24_NHS_review tag was added to gene: DYNC1I2.
Fetal anomalies v4.51 DYNC1I1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DYNC1I1.
Tag Q3_24_NHS_review tag was added to gene: DYNC1I1.
Fetal anomalies v4.51 DPF2 Achchuthan Shanmugasundram Phenotypes for gene: DPF2 were changed from Coffin-Siris syndrome 7, OMIM:618027; Coffin Siris like disorder to Coffin-Siris syndrome 7, OMIM:618027
Fetal anomalies v4.50 DPF2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DPF2.
Tag Q3_24_NHS_review tag was added to gene: DPF2.
Fetal anomalies v4.50 DLL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DLL1.
Tag Q3_24_NHS_review tag was added to gene: DLL1.
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 v4.49 DEPDC5 Achchuthan Shanmugasundram Publications for gene: DEPDC5 were set to 32848577
Fetal anomalies v4.48 DEPDC5 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DEPDC5.
Tag Q3_24_NHS_review tag was added to gene: DEPDC5.
Fetal anomalies v4.48 DCC Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: DCC.
Fetal anomalies v4.48 CYBB Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CYBB.
Tag Q3_24_NHS_review tag was added to gene: CYBB.
Fetal anomalies v4.48 CTNNA2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CTNNA2.
Tag Q3_24_NHS_review tag was added to gene: CTNNA2.
Fetal anomalies v4.48 COA7 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: COA7.
Tag Q3_24_NHS_review tag was added to gene: COA7.
Fetal anomalies v4.48 CLTC Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CLTC.
Tag Q3_24_NHS_review tag was added to gene: CLTC.
Fetal anomalies v4.48 CFAP52 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CFAP52.
Tag Q3_24_NHS_review tag was added to gene: CFAP52.
Fetal anomalies v4.48 CFAP45 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CFAP45.
Tag Q3_24_NHS_review tag was added to gene: CFAP45.
Fetal anomalies v4.48 CEP85L Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CEP85L.
Tag Q3_23_NHS_review tag was added to gene: CEP85L.
Fetal anomalies v4.48 CCDC22 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CCDC22.
Tag Q3_24_NHS_review tag was added to gene: CCDC22.
Fetal anomalies v4.48 CCDC22 Achchuthan Shanmugasundram Phenotypes for gene: CCDC22 were changed from SYNDROMIC X-LINKED INTELLECTUAL DISABILITY to Ritscher-Schinzel syndrome 2, OMIM:300963
Fetal anomalies v4.47 CCDC22 Achchuthan Shanmugasundram Publications for gene: CCDC22 were set to
Fetal anomalies v4.46 C2orf69 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: C2orf69.
Tag Q3_24_NHS_review tag was added to gene: C2orf69.
Fetal anomalies v4.46 C12orf57 Achchuthan Shanmugasundram Phenotypes for gene: C12orf57 were changed from COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY; TEMTAMY SYNDROME to Temtamy syndrome, OMIM:218340
Fetal anomalies v4.45 C12orf57 Achchuthan Shanmugasundram Publications for gene: C12orf57 were set to
Fetal anomalies v4.44 C12orf57 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: C12orf57.
Tag Q3_24_NHS_review tag was added to gene: C12orf57.
Fetal anomalies v4.44 BRD4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: BRD4.
Tag Q3_24_NHS_review tag was added to gene: BRD4.
Fetal anomalies v4.44 BRCA1 Achchuthan Shanmugasundram Phenotypes for gene: BRCA1 were changed from INTELLECTUAL DISABILITY; Fanconi anaemia, complementation group S, OMIM:617883 to Fanconi anaemia, complementation group S, OMIM:617883
Fetal anomalies v4.43 BRCA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: BRCA1.
Tag Q3_24_NHS_review tag was added to gene: BRCA1.
Fetal anomalies v4.43 ATN1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ATN1.
Tag Q3_24_NHS_review tag was added to gene: ATN1.
Fetal anomalies v4.43 ATAD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ATAD1.
Tag Q3_24_NHS_review tag was added to gene: ATAD1.
Fetal anomalies v4.43 ARL3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ARL3.
Tag Q3_24_NHS_review tag was added to gene: ARL3.
Fetal anomalies v4.43 ARID2 Achchuthan Shanmugasundram Phenotypes for gene: ARID2 were changed from ARID2-Coffin-Siris like disorder; Coffin-Siris syndrome 6, OMIM:617808 to Coffin-Siris syndrome 6, OMIM:617808
Fetal anomalies v4.42 ARID2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ARID2.
Tag Q3_24_NHS_review tag was added to gene: ARID2.
Fetal anomalies v4.42 APC2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: APC2.
Tag Q3_24_NHS_review tag was added to gene: APC2.
Fetal anomalies v4.42 AP4S1 Achchuthan Shanmugasundram Phenotypes for gene: AP4S1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 to Spastic paraplegia 52, autosomal recessive, OMIM:614067
Fetal anomalies v4.41 AP4S1 Achchuthan Shanmugasundram Publications for gene: AP4S1 were set to
Fetal anomalies v4.40 AP4S1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: AP4S1.
Tag Q3_24_NHS_review tag was added to gene: AP4S1.
Fetal anomalies v4.40 AP4B1 Achchuthan Shanmugasundram Publications for gene: AP4B1 were set to
Fetal anomalies v4.39 AP4B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: AP4B1.
Tag Q3_24_NHS_review tag was added to gene: AP4B1.
Fetal anomalies v4.39 ANGPT2 Achchuthan Shanmugasundram Phenotypes for gene: ANGPT2 were changed from hydrops fetalis, MONDO:0015193; Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662 to hydrops fetalis, MONDO:0015193; Lymphatic malformation 10, OMIM:619369; lymphatic malformation 10, MONDO:0023662
Fetal anomalies v4.38 ANGPT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ANGPT2.
Tag Q3_24_NHS_review tag was added to gene: ANGPT2.
Fetal anomalies v4.38 ALPK3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ALPK3.
Tag Q3_24_NHS_review tag was added to gene: ALPK3.
Fetal anomalies v4.38 ALG14 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ALG14.
Tag Q3_24_NHS_review tag was added to gene: ALG14.
Fetal anomalies v4.38 ALDH1A2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ALDH1A2.
Tag Q3_24_NHS_review tag was added to gene: ALDH1A2.
Fetal anomalies v4.38 AFF3 Achchuthan Shanmugasundram Phenotypes for gene: AFF3 were changed from KINSSHIP syndrome, OMIM:619297 to KINSSHIP syndrome, OMIM:619297
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 AFF3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: AFF3.
Tag Q3_24_NHS_review tag was added to gene: AFF3.
Fetal anomalies v4.36 ADCY6 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ADCY6.
Tag Q3_24_NHS_review tag was added to gene: ADCY6.
Fetal anomalies v4.36 ACVRL1 Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: ACVRL1.
Fetal anomalies v4.36 ACVRL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ACVRL1.
Fetal anomalies v4.36 ZNHIT3 Achchuthan Shanmugasundram commented on gene: ZNHIT3
Fetal anomalies v4.36 ZNF699 Achchuthan Shanmugasundram commented on gene: ZNF699
Fetal anomalies v4.36 ZNF526 Achchuthan Shanmugasundram commented on gene: ZNF526
Fetal anomalies v4.36 ZNF462 Achchuthan Shanmugasundram commented on gene: ZNF462
Fetal anomalies v4.36 ZNF335 Achchuthan Shanmugasundram commented on gene: ZNF335
Fetal anomalies v4.36 ZMYM2 Achchuthan Shanmugasundram commented on gene: ZMYM2
Fetal anomalies v4.36 ZMIZ1 Achchuthan Shanmugasundram commented on gene: ZMIZ1
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 ZBTB24 Achchuthan Shanmugasundram commented on gene: ZBTB24
Fetal anomalies v4.36 YRDC Achchuthan Shanmugasundram commented on gene: YRDC
Fetal anomalies v4.36 YIPF5 Achchuthan Shanmugasundram commented on gene: YIPF5
Fetal anomalies v4.36 YIF1B Achchuthan Shanmugasundram commented on gene: YIF1B
Fetal anomalies v4.36 YAP1 Achchuthan Shanmugasundram commented on gene: YAP1
Fetal anomalies v4.36 WWOX Achchuthan Shanmugasundram commented on gene: WWOX
Fetal anomalies v4.36 WDR4 Achchuthan Shanmugasundram commented on gene: WDR4
Fetal anomalies v4.36 WDR37 Achchuthan Shanmugasundram commented on gene: WDR37
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 UNC13D Achchuthan Shanmugasundram commented on gene: UNC13D
Fetal anomalies v4.36 UBR7 Achchuthan Shanmugasundram commented on gene: UBR7
Fetal anomalies v4.36 UBA2 Achchuthan Shanmugasundram commented on gene: UBA2
Fetal anomalies v4.36 TUBGCP2 Achchuthan Shanmugasundram commented on gene: TUBGCP2
Fetal anomalies v4.36 TTI2 Achchuthan Shanmugasundram commented on gene: TTI2
Fetal anomalies v4.36 TSHR Achchuthan Shanmugasundram commented on gene: TSHR
Fetal anomalies v4.36 TSEN15 Achchuthan Shanmugasundram commented on gene: TSEN15
Fetal anomalies v4.36 TRRAP Achchuthan Shanmugasundram commented on gene: TRRAP
Fetal anomalies v4.36 TRNT1 Achchuthan Shanmugasundram commented on gene: TRNT1
Fetal anomalies v4.36 TRIO Achchuthan Shanmugasundram commented on gene: TRIO
Fetal anomalies v4.36 TRIM71 Achchuthan Shanmugasundram commented on gene: TRIM71
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 TPO Achchuthan Shanmugasundram commented on gene: TPO
Fetal anomalies v4.36 TP73 Achchuthan Shanmugasundram commented on gene: TP73
Fetal anomalies v4.36 TOR1AIP1 Achchuthan Shanmugasundram commented on gene: TOR1AIP1
Fetal anomalies v4.36 TOP2B Achchuthan Shanmugasundram commented on gene: TOP2B
Fetal anomalies v4.36 TNFRSF11A Achchuthan Shanmugasundram commented on gene: TNFRSF11A
Fetal anomalies v4.36 TMTC3 Achchuthan Shanmugasundram commented on gene: TMTC3
Fetal anomalies v4.36 TMEM218 Achchuthan Shanmugasundram commented on gene: TMEM218
Fetal anomalies v4.36 TLL1 Achchuthan Shanmugasundram commented on gene: TLL1
Fetal anomalies v4.36 TLK2 Achchuthan Shanmugasundram commented on gene: TLK2
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 TG Achchuthan Shanmugasundram commented on gene: TG
Fetal anomalies v4.36 TBX22 Achchuthan Shanmugasundram commented on gene: TBX22
Fetal anomalies v4.36 TBC1D1 Achchuthan Shanmugasundram commented on gene: TBC1D1
Fetal anomalies v4.36 TAOK1 Achchuthan Shanmugasundram commented on gene: TAOK1
Fetal anomalies v4.36 SZT2 Achchuthan Shanmugasundram commented on gene: SZT2
Fetal anomalies v4.36 SYT2 Achchuthan Shanmugasundram commented on gene: SYT2
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 STT3A Achchuthan Shanmugasundram commented on gene: STT3A
Fetal anomalies v4.36 STK4 Achchuthan Shanmugasundram commented on gene: STK4
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 STAT3 Achchuthan Shanmugasundram commented on gene: STAT3
Fetal anomalies v4.36 SPTB Achchuthan Shanmugasundram commented on gene: SPTB
Fetal anomalies v4.36 SPTA1 Achchuthan Shanmugasundram commented on gene: SPTA1
Fetal anomalies v4.36 SPRED2 Achchuthan Shanmugasundram commented on gene: SPRED2
Fetal anomalies v4.36 SPINT2 Achchuthan Shanmugasundram commented on gene: SPINT2
Fetal anomalies v4.36 SPEN Achchuthan Shanmugasundram commented on gene: SPEN
Fetal anomalies v4.36 SOX11 Achchuthan Shanmugasundram commented on gene: SOX11
Fetal anomalies v4.36 SNAP29 Achchuthan Shanmugasundram commented on gene: SNAP29
Fetal anomalies v4.36 SMARCD1 Achchuthan Shanmugasundram commented on gene: SMARCD1
Fetal anomalies v4.36 SMARCAL1 Achchuthan Shanmugasundram commented on gene: SMARCAL1
Fetal anomalies v4.36 SMAD6 Achchuthan Shanmugasundram commented on gene: SMAD6
Fetal anomalies v4.36 SMAD2 Achchuthan Shanmugasundram commented on gene: SMAD2
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 SLC4A1 Achchuthan Shanmugasundram commented on gene: SLC4A1
Fetal anomalies v4.36 SLC25A26 Achchuthan Shanmugasundram commented on gene: SLC25A26
Fetal anomalies v4.36 SLC22A5 Achchuthan Shanmugasundram commented on gene: SLC22A5
Fetal anomalies v4.36 SLC20A1 Achchuthan Shanmugasundram commented on gene: SLC20A1
Fetal anomalies v4.36 SKIV2L Achchuthan Shanmugasundram commented on gene: SKIV2L
Fetal anomalies v4.36 SIN3A Achchuthan Shanmugasundram commented on gene: SIN3A
Fetal anomalies v4.36 SHMT2 Achchuthan Shanmugasundram commented on gene: SHMT2
Fetal anomalies v4.36 SF3B2 Achchuthan Shanmugasundram commented on gene: SF3B2
Fetal anomalies v4.36 SERPINA11 Achchuthan Shanmugasundram commented on gene: SERPINA11
Fetal anomalies v4.36 SEMA3A Achchuthan Shanmugasundram commented on gene: SEMA3A
Fetal anomalies v4.36 SCNN1G Achchuthan Shanmugasundram commented on gene: SCNN1G
Fetal anomalies v4.36 SCNN1B Achchuthan Shanmugasundram commented on gene: SCNN1B
Fetal anomalies v4.36 SCNN1A Achchuthan Shanmugasundram commented on gene: SCNN1A
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 SCN3A Achchuthan Shanmugasundram commented on gene: SCN3A
Fetal anomalies v4.36 SCAF4 Achchuthan Shanmugasundram commented on gene: SCAF4
Fetal anomalies v4.36 RPL15 Achchuthan Shanmugasundram commented on gene: RPL15
Fetal anomalies v4.36 RNU12 Achchuthan Shanmugasundram commented on gene: RNU12
Fetal anomalies v4.36 RNF125 Achchuthan Shanmugasundram commented on gene: RNF125
Fetal anomalies v4.36 RNF113A Achchuthan Shanmugasundram commented on gene: RNF113A
Fetal anomalies v4.36 RLIM Achchuthan Shanmugasundram commented on gene: RLIM
Fetal anomalies v4.36 RIN2 Achchuthan Shanmugasundram commented on gene: RIN2
Fetal anomalies v4.36 RHOA Achchuthan Shanmugasundram commented on gene: RHOA
Fetal anomalies v4.36 RHEB Achchuthan Shanmugasundram commented on gene: RHEB
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 RAP1B Achchuthan Shanmugasundram commented on gene: RAP1B
Fetal anomalies v4.36 RAD51C Achchuthan Shanmugasundram commented on gene: RAD51C
Fetal anomalies v4.36 RAD51 Achchuthan Shanmugasundram commented on gene: RAD51
Fetal anomalies v4.36 RAD50 Achchuthan Shanmugasundram commented on gene: RAD50
Fetal anomalies v4.36 RAB11B Achchuthan Shanmugasundram commented on gene: RAB11B
Fetal anomalies v4.36 QARS Achchuthan Shanmugasundram commented on gene: QARS
Fetal anomalies v4.36 PXDN Achchuthan Shanmugasundram commented on gene: PXDN
Fetal anomalies v4.36 PTPN23 Achchuthan Shanmugasundram commented on gene: PTPN23
Fetal anomalies v4.36 PRR12 Achchuthan Shanmugasundram commented on gene: PRR12
Fetal anomalies v4.36 PRF1 Achchuthan Shanmugasundram commented on gene: PRF1
Fetal anomalies v4.36 PPP3CA Achchuthan Shanmugasundram commented on gene: PPP3CA
Fetal anomalies v4.36 PPP2R3C Achchuthan Shanmugasundram commented on gene: PPP2R3C
Fetal anomalies v4.36 PPP2CA Achchuthan Shanmugasundram commented on gene: PPP2CA
Fetal anomalies v4.36 PPP1R13L Achchuthan Shanmugasundram commented on gene: PPP1R13L
Fetal anomalies v4.36 PPP1R12A Achchuthan Shanmugasundram commented on gene: PPP1R12A
Fetal anomalies v4.36 PPIL1 Achchuthan Shanmugasundram commented on gene: PPIL1
Fetal anomalies v4.36 POLD1 Achchuthan Shanmugasundram commented on gene: POLD1
Fetal anomalies v4.36 PLPBP Achchuthan Shanmugasundram commented on gene: PLPBP
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 PLEC Achchuthan Shanmugasundram commented on gene: PLEC
Fetal anomalies v4.36 PLAA Achchuthan Shanmugasundram commented on gene: PLAA
Fetal anomalies v4.36 PKP2 Achchuthan Shanmugasundram commented on gene: PKP2
Fetal anomalies v4.36 PIGH Achchuthan Shanmugasundram commented on gene: PIGH
Fetal anomalies v4.36 PIDD1 Achchuthan Shanmugasundram commented on gene: PIDD1
Fetal anomalies v4.36 PI4KA Achchuthan Shanmugasundram commented on gene: PI4KA
Fetal anomalies v4.36 PHF21A Achchuthan Shanmugasundram commented on gene: PHF21A
Fetal anomalies v4.36 PHEX Achchuthan Shanmugasundram commented on gene: PHEX
Fetal anomalies v4.36 PGAP1 Achchuthan Shanmugasundram commented on gene: PGAP1
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 PDE3A Achchuthan Shanmugasundram commented on gene: PDE3A
Fetal anomalies v4.36 PCDH12 Achchuthan Shanmugasundram commented on gene: PCDH12
Fetal anomalies v4.36 PAX1 Achchuthan Shanmugasundram commented on gene: PAX1
Fetal anomalies v4.36 PARP6 Achchuthan Shanmugasundram commented on gene: PARP6
Fetal anomalies v4.36 PAM16 Achchuthan Shanmugasundram commented on gene: PAM16
Fetal anomalies v4.36 PACS2 Achchuthan Shanmugasundram commented on gene: PACS2
Fetal anomalies v4.36 PACS1 Achchuthan Shanmugasundram commented on gene: PACS1
Fetal anomalies v4.36 OTUD6B Achchuthan Shanmugasundram commented on gene: OTUD6B
Fetal anomalies v4.36 OTUD5 Achchuthan Shanmugasundram commented on gene: OTUD5
Fetal anomalies v4.36 ORAI1 Achchuthan Shanmugasundram commented on gene: ORAI1
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 NUP188 Achchuthan Shanmugasundram commented on gene: NUP188
Fetal anomalies v4.36 NSRP1 Achchuthan Shanmugasundram commented on gene: NSRP1
Fetal anomalies v4.36 NSD2 Achchuthan Shanmugasundram commented on gene: NSD2
Fetal anomalies v4.36 NPRL3 Achchuthan Shanmugasundram commented on gene: NPRL3
Fetal anomalies v4.36 NPRL2 Achchuthan Shanmugasundram commented on gene: NPRL2
Fetal anomalies v4.36 NPL Achchuthan Shanmugasundram commented on gene: NPL
Fetal anomalies v4.36 NOVA2 Achchuthan Shanmugasundram commented on gene: NOVA2
Fetal anomalies v4.36 NONO Achchuthan Shanmugasundram commented on gene: NONO
Fetal anomalies v4.36 NLRP3 Achchuthan Shanmugasundram commented on gene: NLRP3
Fetal anomalies v4.36 NKX2-6 Achchuthan Shanmugasundram commented on gene: NKX2-6
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 NFIB Achchuthan Shanmugasundram commented on gene: NFIB
Fetal anomalies v4.36 NFIA Achchuthan Shanmugasundram commented on gene: NFIA
Fetal anomalies v4.36 NEXN Achchuthan Shanmugasundram commented on gene: NEXN
Fetal anomalies v4.36 NCAPD2 Achchuthan Shanmugasundram commented on gene: NCAPD2
Fetal anomalies v4.36 NAA15 Achchuthan Shanmugasundram commented on gene: NAA15
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 MYOD1 Achchuthan Shanmugasundram commented on gene: MYOD1
Fetal anomalies v4.36 MYBPC3 Achchuthan Shanmugasundram commented on gene: MYBPC3
Fetal anomalies v4.36 MVK Achchuthan Shanmugasundram commented on gene: MVK
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 MT-TL1 Achchuthan Shanmugasundram commented on gene: MT-TL1
Fetal anomalies v4.36 MT-TE Achchuthan Shanmugasundram commented on gene: MT-TE
Fetal anomalies v4.36 MPZ Achchuthan Shanmugasundram commented on gene: MPZ
Fetal anomalies v4.36 MPDZ Achchuthan Shanmugasundram commented on gene: MPDZ
Fetal anomalies v4.36 MNS1 Achchuthan Shanmugasundram commented on gene: MNS1
Fetal anomalies v4.36 MITF Achchuthan Shanmugasundram commented on gene: MITF
Fetal anomalies v4.36 MINPP1 Achchuthan Shanmugasundram commented on gene: MINPP1
Fetal anomalies v4.36 MGAT2 Achchuthan Shanmugasundram commented on gene: MGAT2
Fetal anomalies v4.36 MED27 Achchuthan Shanmugasundram commented on gene: MED27
Fetal anomalies v4.36 MED25 Achchuthan Shanmugasundram commented on gene: MED25
Fetal anomalies v4.36 MED17 Achchuthan Shanmugasundram commented on gene: MED17
Fetal anomalies v4.36 MCIDAS Achchuthan Shanmugasundram commented on gene: MCIDAS
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 MAST1 Achchuthan Shanmugasundram commented on gene: MAST1
Fetal anomalies v4.36 MAPKAPK5 Achchuthan Shanmugasundram commented on gene: MAPKAPK5
Fetal anomalies v4.36 MAPK8IP3 Achchuthan Shanmugasundram commented on gene: MAPK8IP3
Fetal anomalies v4.36 MAPK1 Achchuthan Shanmugasundram commented on gene: MAPK1
Fetal anomalies v4.36 MAP1B Achchuthan Shanmugasundram commented on gene: MAP1B
Fetal anomalies v4.36 MAN2C1 Achchuthan Shanmugasundram commented on gene: MAN2C1
Fetal anomalies v4.36 MAMLD1 Achchuthan Shanmugasundram commented on gene: MAMLD1
Fetal anomalies v4.36 MAB21L1 Achchuthan Shanmugasundram commented on gene: MAB21L1
Fetal anomalies v4.36 LTBP1 Achchuthan Shanmugasundram commented on gene: LTBP1
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 KIF4A Achchuthan Shanmugasundram commented on gene: KIF4A
Fetal anomalies v4.36 KIF21B Achchuthan Shanmugasundram commented on gene: KIF21B
Fetal anomalies v4.36 KIDINS220 Achchuthan Shanmugasundram commented on gene: KIDINS220
Fetal anomalies v4.36 KIAA0825 Achchuthan Shanmugasundram commented on gene: KIAA0825
Fetal anomalies v4.36 KIAA0556 Achchuthan Shanmugasundram commented on gene: KIAA0556
Fetal anomalies v4.36 KDM1A Achchuthan Shanmugasundram commented on gene: KDM1A
Fetal anomalies v4.36 KCNQ1 Achchuthan Shanmugasundram commented on gene: KCNQ1
Fetal anomalies v4.36 KCNJ8 Achchuthan Shanmugasundram commented on gene: KCNJ8
Fetal anomalies v4.36 KCNH1 Achchuthan Shanmugasundram commented on gene: KCNH1
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 JAM3 Achchuthan Shanmugasundram commented on gene: JAM3
Fetal anomalies v4.36 ITPR1 Achchuthan Shanmugasundram commented on gene: ITPR1
Fetal anomalies v4.36 IRX5 Achchuthan Shanmugasundram commented on gene: IRX5
Fetal anomalies v4.36 IQCE Achchuthan Shanmugasundram commented on gene: IQCE
Fetal anomalies v4.36 INTS1 Achchuthan Shanmugasundram commented on gene: INTS1
Fetal anomalies v4.36 IKZF1 Achchuthan Shanmugasundram commented on gene: IKZF1
Fetal anomalies v4.36 IFT74 Achchuthan Shanmugasundram commented on gene: IFT74
Fetal anomalies v4.36 IFT27 Achchuthan Shanmugasundram commented on gene: IFT27
Fetal anomalies v4.36 HYAL2 Achchuthan Shanmugasundram commented on gene: HYAL2
Fetal anomalies v4.36 HSPA9 Achchuthan Shanmugasundram commented on gene: HSPA9
Fetal anomalies v4.36 HS2ST1 Achchuthan Shanmugasundram commented on gene: HS2ST1
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 HNRNPH2 Achchuthan Shanmugasundram commented on gene: HNRNPH2
Fetal anomalies v4.36 HMX1 Achchuthan Shanmugasundram commented on gene: HMX1
Fetal anomalies v4.36 HMGB1 Achchuthan Shanmugasundram commented on gene: HMGB1
Fetal anomalies v4.36 HK1 Achchuthan Shanmugasundram commented on gene: HK1
Fetal anomalies v4.36 HIST1H4C Achchuthan Shanmugasundram commented on gene: HIST1H4C
Fetal anomalies v4.36 HHAT Achchuthan Shanmugasundram commented on gene: HHAT
Fetal anomalies v4.36 HERC1 Achchuthan Shanmugasundram commented on gene: HERC1
Fetal anomalies v4.36 H3F3A Achchuthan Shanmugasundram commented on gene: H3F3A
Fetal anomalies v4.36 GTPBP2 Achchuthan Shanmugasundram commented on gene: GTPBP2
Fetal anomalies v4.36 GRM7 Achchuthan Shanmugasundram commented on gene: GRM7
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 GLMN Achchuthan Shanmugasundram commented on gene: GLMN
Fetal anomalies v4.36 GHR Achchuthan Shanmugasundram commented on gene: GHR
Fetal anomalies v4.36 GFRA1 Achchuthan Shanmugasundram commented on gene: GFRA1
Fetal anomalies v4.36 GDF11 Achchuthan Shanmugasundram commented on gene: GDF11
Fetal anomalies v4.36 GATA5 Achchuthan Shanmugasundram commented on gene: GATA5
Fetal anomalies v4.36 GATA1 Achchuthan Shanmugasundram commented on gene: GATA1
Fetal anomalies v4.36 GABRB2 Achchuthan Shanmugasundram commented on gene: GABRB2
Fetal anomalies v4.36 G6PD Achchuthan Shanmugasundram commented on gene: G6PD
Fetal anomalies v4.36 FRMPD4 Achchuthan Shanmugasundram commented on gene: FRMPD4
Fetal anomalies v4.36 FRA10AC1 Achchuthan Shanmugasundram commented on gene: FRA10AC1
Fetal anomalies v4.36 FOXJ1 Achchuthan Shanmugasundram commented on gene: FOXJ1
Fetal anomalies v4.36 FGF9 Achchuthan Shanmugasundram commented on gene: FGF9
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 FBRSL1 Achchuthan Shanmugasundram commented on gene: FBRSL1
Fetal anomalies v4.36 FAT1 Achchuthan Shanmugasundram commented on gene: FAT1
Fetal anomalies v4.36 FAM149B1 Achchuthan Shanmugasundram commented on gene: FAM149B1
Fetal anomalies v4.36 EXOSC9 Achchuthan Shanmugasundram commented on gene: EXOSC9
Fetal anomalies v4.36 EXOSC8 Achchuthan Shanmugasundram commented on gene: EXOSC8
Fetal anomalies v4.36 EXOSC5 Achchuthan Shanmugasundram commented on gene: EXOSC5
Fetal anomalies v4.36 EXOC7 Achchuthan Shanmugasundram commented on gene: EXOC7
Fetal anomalies v4.36 ERGIC1 Achchuthan Shanmugasundram commented on gene: ERGIC1
Fetal anomalies v4.36 ERBB3 Achchuthan Shanmugasundram commented on gene: ERBB3
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 EMC1 Achchuthan Shanmugasundram commented on gene: EMC1
Fetal anomalies v4.36 EIF3F Achchuthan Shanmugasundram commented on gene: EIF3F
Fetal anomalies v4.36 EFEMP2 Achchuthan Shanmugasundram commented on gene: EFEMP2
Fetal anomalies v4.36 EEF2 Achchuthan Shanmugasundram commented on gene: EEF2
Fetal anomalies v4.36 EDN3 Achchuthan Shanmugasundram commented on gene: EDN3
Fetal anomalies v4.36 DYNC1I2 Achchuthan Shanmugasundram commented on gene: DYNC1I2
Fetal anomalies v4.36 DYNC1I1 Achchuthan Shanmugasundram commented on gene: DYNC1I1
Fetal anomalies v4.36 DPH1 Achchuthan Shanmugasundram commented on gene: DPH1
Fetal anomalies v4.36 DPF2 Achchuthan Shanmugasundram commented on gene: DPF2
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 DNAJC19 Achchuthan Shanmugasundram commented on gene: DNAJC19
Fetal anomalies v4.36 DLL1 Achchuthan Shanmugasundram commented on gene: DLL1
Fetal anomalies v4.36 DICER1 Achchuthan Shanmugasundram commented on gene: DICER1
Fetal anomalies v4.36 DEPDC5 Achchuthan Shanmugasundram commented on gene: DEPDC5
Fetal anomalies v4.36 DEAF1 Achchuthan Shanmugasundram commented on gene: DEAF1
Fetal anomalies v4.36 DDX6 Achchuthan Shanmugasundram commented on gene: DDX6
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 D2HGDH Achchuthan Shanmugasundram commented on gene: D2HGDH
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 CWF19L1 Achchuthan Shanmugasundram commented on gene: CWF19L1
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 CTDP1 Achchuthan Shanmugasundram commented on gene: CTDP1
Fetal anomalies v4.36 CPAMD8 Achchuthan Shanmugasundram commented on gene: CPAMD8
Fetal anomalies v4.36 COLGALT1 Achchuthan Shanmugasundram commented on gene: COLGALT1
Fetal anomalies v4.36 COL9A3 Achchuthan Shanmugasundram commented on gene: COL9A3
Fetal anomalies v4.36 COL27A1 Achchuthan Shanmugasundram commented on gene: COL27A1
Fetal anomalies v4.36 COL25A1 Achchuthan Shanmugasundram commented on gene: COL25A1
Fetal anomalies v4.36 COA7 Achchuthan Shanmugasundram commented on gene: COA7
Fetal anomalies v4.36 CLTC Achchuthan Shanmugasundram commented on gene: CLTC
Fetal anomalies v4.36 CLMP Achchuthan Shanmugasundram commented on gene: CLMP
Fetal anomalies v4.36 CLCNKB Achchuthan Shanmugasundram commented on gene: CLCNKB
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 CFAP52 Achchuthan Shanmugasundram commented on gene: CFAP52
Fetal anomalies v4.36 CFAP45 Achchuthan Shanmugasundram commented on gene: CFAP45
Fetal anomalies v4.36 CEP85L Achchuthan Shanmugasundram commented on gene: CEP85L
Fetal anomalies v4.36 CELSR1 Achchuthan Shanmugasundram commented on gene: CELSR1
Fetal anomalies v4.36 CCDC22 Achchuthan Shanmugasundram commented on gene: CCDC22
Fetal anomalies v4.36 CAPN15 Achchuthan Shanmugasundram commented on gene: CAPN15
Fetal anomalies v4.36 CALCRL Achchuthan Shanmugasundram commented on gene: CALCRL
Fetal anomalies v4.36 CACNA1D Achchuthan Shanmugasundram commented on gene: CACNA1D
Fetal anomalies v4.36 CACNA1A Achchuthan Shanmugasundram commented on gene: CACNA1A
Fetal anomalies v4.36 C2orf69 Achchuthan Shanmugasundram commented on gene: C2orf69
Fetal anomalies v4.36 C12orf57 Achchuthan Shanmugasundram commented on gene: C12orf57
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 BRD4 Achchuthan Shanmugasundram commented on gene: BRD4
Fetal anomalies v4.36 BRCA1 Achchuthan Shanmugasundram commented on gene: BRCA1
Fetal anomalies v4.36 BCAS3 Achchuthan Shanmugasundram commented on gene: BCAS3
Fetal anomalies v4.36 B9D1 Achchuthan Shanmugasundram commented on gene: B9D1
Fetal anomalies v4.36 AUTS2 Achchuthan Shanmugasundram commented on gene: AUTS2
Fetal anomalies v4.36 ATP6V1B2 Achchuthan Shanmugasundram commented on gene: ATP6V1B2
Fetal anomalies v4.36 ATP1A3 Achchuthan Shanmugasundram commented on gene: ATP1A3
Fetal anomalies v4.36 ATP11C Achchuthan Shanmugasundram commented on gene: ATP11C
Fetal anomalies v4.36 ATN1 Achchuthan Shanmugasundram commented on gene: ATN1
Fetal anomalies v4.36 ATAD1 Achchuthan Shanmugasundram commented on gene: ATAD1
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 ARL3 Achchuthan Shanmugasundram commented on gene: ARL3
Fetal anomalies v4.36 ARID2 Achchuthan Shanmugasundram commented on gene: ARID2
Fetal anomalies v4.36 ARF1 Achchuthan Shanmugasundram commented on gene: ARF1
Fetal anomalies v4.36 APC2 Achchuthan Shanmugasundram commented on gene: APC2
Fetal anomalies v4.36 AP4S1 Achchuthan Shanmugasundram commented on gene: AP4S1
Fetal anomalies v4.36 AP4M1 Achchuthan Shanmugasundram commented on gene: AP4M1
Fetal anomalies v4.36 AP4B1 Achchuthan Shanmugasundram commented on gene: AP4B1
Fetal anomalies v4.36 ANKRD17 Achchuthan Shanmugasundram commented on gene: ANKRD17
Fetal anomalies v4.36 ANKLE2 Achchuthan Shanmugasundram commented on gene: ANKLE2
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 AMBRA1 Achchuthan Shanmugasundram commented on gene: AMBRA1
Fetal anomalies v4.36 ALPK3 Achchuthan Shanmugasundram commented on gene: ALPK3
Fetal anomalies v4.36 ALG14 Achchuthan Shanmugasundram commented on gene: ALG14
Fetal anomalies v4.36 ALDH1A2 Achchuthan Shanmugasundram commented on gene: ALDH1A2
Fetal anomalies v4.36 ALB Achchuthan Shanmugasundram commented on gene: ALB
Fetal anomalies v4.36 AIMP1 Achchuthan Shanmugasundram commented on gene: AIMP1
Fetal anomalies v4.36 AGT Achchuthan Shanmugasundram commented on gene: AGT
Fetal anomalies v4.36 AFF3 Achchuthan Shanmugasundram commented on gene: AFF3
Fetal anomalies v4.36 ADCY6 Achchuthan Shanmugasundram commented on gene: ADCY6
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 v4.36 ACVRL1 Achchuthan Shanmugasundram commented on gene: ACVRL1
Fetal anomalies v4.36 ACVR1 Achchuthan Shanmugasundram commented on gene: ACVR1
Fetal anomalies v4.36 ACSL4 Achchuthan Shanmugasundram commented on gene: ACSL4
Fetal anomalies v4.36 ABHD16A Achchuthan Shanmugasundram commented on gene: ABHD16A
Fetal anomalies v4.36 AARS Achchuthan Shanmugasundram commented on gene: AARS
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 ZNHIT3 Achchuthan Shanmugasundram gene: ZNHIT3 was added
gene: ZNHIT3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNHIT3 were set to 28335020; 31048081
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, OMIM:260565
Fetal anomalies v4.34 ZNF699 Achchuthan Shanmugasundram gene: ZNF699 was added
gene: ZNF699 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF699 were set to 33875846
Phenotypes for gene: ZNF699 were set to DEGCAGS syndrome, OMIM:619488
Fetal anomalies v4.34 ZNF526 Achchuthan Shanmugasundram gene: ZNF526 was added
gene: ZNF526 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 33397746; 21937992; 25558065
Phenotypes for gene: ZNF526 were set to Dentici-Novelli neurodevelopmental syndrome, OMIM:619877
Fetal anomalies v4.34 ZNF462 Achchuthan Shanmugasundram Source NHS GMS was added to ZNF462.
Mode of inheritance for gene ZNF462 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Weiss-Kruszka syndrome, OMIM:618619 for gene: ZNF462
Publications for gene: ZNF462 were updated from to 28513610; 31361404
Fetal anomalies v4.34 ZNF335 Achchuthan Shanmugasundram gene: ZNF335 was added
gene: ZNF335 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF335 were set to 23178126; 34982360; 29652087; 27540107
Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive, OMIM:615095
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 ZBTB24 Achchuthan Shanmugasundram gene: ZBTB24 was added
gene: ZBTB24 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB24 were set to 21596365; 21906047; 32061411; 29023266; 32865561; 22786748; 23739126; 28128455
Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, OMIM:614069
Fetal anomalies v4.34 YRDC Achchuthan Shanmugasundram gene: YRDC was added
gene: YRDC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YRDC were set to 31481669; 34545459
Phenotypes for gene: YRDC were set to Galloway-Mowat syndrome 10, OMIM:619609
Fetal anomalies v4.34 YIPF5 Achchuthan Shanmugasundram gene: YIPF5 was added
gene: YIPF5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIPF5 were set to 33164986
Phenotypes for gene: YIPF5 were set to Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278
Fetal anomalies v4.34 YIF1B Achchuthan Shanmugasundram gene: YIF1B was added
gene: YIF1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIF1B were set to 26077767; 32006098
Phenotypes for gene: YIF1B were set to Kaya-Barakat-Masson syndrome, OMIM:619125
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 WDR37 Achchuthan Shanmugasundram gene: WDR37 was added
gene: WDR37 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR37 were set to 31327508; 31327510
Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome, OMIM:618652
Fetal anomalies v4.34 VPS4A Achchuthan Shanmugasundram gene: VPS4A was added
gene: VPS4A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to CIMDAG syndrome, OMIM:619273
Fetal anomalies v4.34 UBR7 Achchuthan Shanmugasundram gene: UBR7 was added
gene: UBR7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Li-Campeau syndrome, OMIM:619189
Fetal anomalies v4.34 UBA2 Achchuthan Shanmugasundram gene: UBA2 was added
gene: UBA2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBA2 were set to 31332306; 31587267
Phenotypes for gene: UBA2 were set to ACCES syndrome, OMIM:619959
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 TTI2 Achchuthan Shanmugasundram Source NHS GMS was added to TTI2.
Source Expert Review Red was added to TTI2.
Added phenotypes Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly for gene: TTI2
Publications for gene: TTI2 were updated from to 32061250; 31737043; 23956177
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
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 TRIM71 Achchuthan Shanmugasundram gene: TRIM71 was added
gene: TRIM71 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM71 were set to 32168371; 29983323; 30975633
Phenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1, OMIM:618667
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 TP73 Achchuthan Shanmugasundram gene: TP73 was added
gene: TP73 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to 34077761; 31130284
Phenotypes for gene: TP73 were set to Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466
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 TOP2B Achchuthan Shanmugasundram gene: TOP2B was added
gene: TOP2B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31409799
Phenotypes for gene: TOP2B were set to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, OMIM:609296
Fetal anomalies v4.34 TNFRSF11A Achchuthan Shanmugasundram gene: TNFRSF11A was added
gene: TNFRSF11A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF11A were set to 18606301; 32048120
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, OMIM:612301
Fetal anomalies v4.34 TMEM218 Achchuthan Shanmugasundram gene: TMEM218 was added
gene: TMEM218 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to 25161209; 33791682
Phenotypes for gene: TMEM218 were set to Joubert syndrome 39, OMIM:619562
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 TBC1D1 Achchuthan Shanmugasundram gene: TBC1D1 was added
gene: TBC1D1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TBC1D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBC1D1 were set to 26572137
Phenotypes for gene: TBC1D1 were set to CAKUT
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 STT3B Achchuthan Shanmugasundram gene: STT3B was added
gene: STT3B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: STT3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STT3B were set to 33082562
Phenotypes for gene: STT3B were set to Congenital disorder of glycosylation, type Ix, OMIM:615597
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 STK4 Achchuthan Shanmugasundram gene: STK4 was added
gene: STK4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STK4 were set to 22294732; 26117625; 22174160; 22952854
Phenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, OMIM:614868
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 STAT3 Achchuthan Shanmugasundram gene: STAT3 was added
gene: STAT3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 31771449; 34366294; 30617622
Phenotypes for gene: STAT3 were set to Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952; Hyper-IgE recurrent infection syndrome, OMIM:147060
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 SPRED2 Achchuthan Shanmugasundram gene: SPRED2 was added
gene: SPRED2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to 34626534; 36394128
Phenotypes for gene: SPRED2 were set to Noonan syndrome 14, OMIM:619745
Fetal anomalies v4.34 SPINT2 Achchuthan Shanmugasundram gene: SPINT2 was added
gene: SPINT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINT2 were set to 19185281; 24142340; 30445423; 20009592; 33374714; 33029133; 33547739
Phenotypes for gene: SPINT2 were set to congenital secretory sodium diarrhea 3, MONDO:0010036; Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420
Fetal anomalies v4.34 SPEN Achchuthan Shanmugasundram gene: SPEN was added
gene: SPEN was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPEN were set to 33596411
Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome, OMIM:619312
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 SMARCD1 Achchuthan Shanmugasundram gene: SMARCD1 was added
gene: SMARCD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCD1 were set to 30879640
Phenotypes for gene: SMARCD1 were set to Coffin-Siris syndrome 11, OMIM:618779
Fetal anomalies v4.34 SMAD6 Achchuthan Shanmugasundram gene: SMAD6 was added
gene: SMAD6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD6 were set to 22275001; 31138930; 32499606; 27606499
Phenotypes for gene: SMAD6 were set to {Craniosynostosis 7, susceptibility to}, OMIM:617439; Aortic valve disease 2, OMIM:614823; {Radioulnar synostosis, nonsyndromic}, OMIM:179300
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 SLC4A1 Achchuthan Shanmugasundram Source Expert Review Amber was added to SLC4A1.
Source NHS GMS was added to SLC4A1.
Added phenotypes Ovalocytosis, SA type, OMIM:166900 for gene: SLC4A1
Publications for gene: SLC4A1 were updated from to 33082562; 24652967
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 SLC25A26 Achchuthan Shanmugasundram Source Expert Review Amber was added to SLC25A26.
Source NHS GMS was added to SLC25A26.
Added phenotypes Combined oxidative phosphorylation deficiency 28, OMIM:616794 for gene: SLC25A26
Publications for gene: SLC25A26 were updated from to 26522469; 33082562
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 SLC22A5 Achchuthan Shanmugasundram Source Expert Review Amber was added to SLC22A5.
Source NHS GMS was added to SLC22A5.
Publications for gene: SLC22A5 were updated from 10545605; 11261427 to 33082562; 10545605; 11261427
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 SKIV2L Achchuthan Shanmugasundram Source Expert Review Amber was added to SKIV2L.
Source NHS GMS was added to SKIV2L.
Added phenotypes Trichohepatoenteric syndrome 2, OMIM:614602 for gene: SKIV2L
Publications for gene: SKIV2L were updated from to 22444670; 27431780
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 SIN3A Achchuthan Shanmugasundram Source NHS GMS was added to SIN3A.
Mode of inheritance for gene SIN3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Witteveen-Kolk syndrome, OMIM:613406 for gene: SIN3A
Publications for gene: SIN3A were updated from to 27399968
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 SF3B2 Achchuthan Shanmugasundram gene: SF3B2 was added
gene: SF3B2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SF3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SF3B2 were set to 34344887; 37555391
Phenotypes for gene: SF3B2 were set to Craniofacial microsomia, OMIM:164210
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 SCNN1G Achchuthan Shanmugasundram gene: SCNN1G was added
gene: SCNN1G was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNN1G were set to 31522814; 11231969; 8640238; 7633160
Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type IB3, autosomal recessive, OMIM:620126
Fetal anomalies v4.34 SCNN1B Achchuthan Shanmugasundram gene: SCNN1B was added
gene: SCNN1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNN1B were set to 8589714
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, OMIM:264350
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 SCAF4 Achchuthan Shanmugasundram gene: SCAF4 was added
gene: SCAF4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCAF4 were set to 32730804
Phenotypes for gene: SCAF4 were set to Fliedner-Zweier syndrome, OMIM:620511
Fetal anomalies v4.34 RPL15 Achchuthan Shanmugasundram gene: RPL15 was added
gene: RPL15 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL15 were set to 23812780; 20301769; 29599205
Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, OMIM:615550; multiple congenital malformations; hydrops
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 RNF125 Achchuthan Shanmugasundram gene: RNF125 was added
gene: RNF125 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF125 were set to 25196541
Phenotypes for gene: RNF125 were set to Tenorio syndrome, OMIM:616260
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 RHEB Achchuthan Shanmugasundram gene: RHEB was added
gene: RHEB was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: RHEB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHEB were set to 29051493; 31337748
Phenotypes for gene: RHEB were set to Macrocephaly; Intellectual disability; Focal cortical dysplasia
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 RAD51 Achchuthan Shanmugasundram Source NHS GMS was added to RAD51.
Mode of inheritance for gene RAD51 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Fanconi anaemia, complementation group R, MIM# 617244 for gene: RAD51
Publications for gene: RAD51 were updated from to 30907510; 26253028; 26681308
Fetal anomalies v4.34 RAD50 Achchuthan Shanmugasundram gene: RAD50 was added
gene: RAD50 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD50 were set to 33378670; 32212377; 19409520
Phenotypes for gene: RAD50 were set to MONDO:0013118; Nijmegen breakage syndrome-like disorder, OMIM:613078
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 PRF1 Achchuthan Shanmugasundram gene: PRF1 was added
gene: PRF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to 19595804; 26199792; 30070073
Phenotypes for gene: PRF1 were set to Aplastic anaemia, OMIM:609135; Haemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553
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 PPP1R12A Achchuthan Shanmugasundram gene: PPP1R12A was added
gene: PPP1R12A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP1R12A were set to 31883643
Phenotypes for gene: PPP1R12A were set to holoprosencephaly; disorder of sex development; Intellectual disability
Fetal anomalies v4.34 PPIL1 Achchuthan Shanmugasundram gene: PPIL1 was added
gene: PPIL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia, type 14, OMIM:619301
Fetal anomalies v4.34 POLD1 Achchuthan Shanmugasundram Source Expert Review Amber was added to POLD1.
Source NHS GMS was added to POLD1.
Mode of inheritance for gene POLD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381 for gene: POLD1
Publications for gene: POLD1 were updated from to 23770608
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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