Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
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
Fetal anomalies v4.34 PKP2 Achchuthan Shanmugasundram gene: PKP2 was added
gene: PKP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PKP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKP2 were set to 33082562
Phenotypes for gene: PKP2 were set to Severe cardiomyopathy with left ventricular noncompaction
Fetal anomalies v4.34 PIGH Achchuthan Shanmugasundram gene: PIGH was added
gene: PIGH was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGH were set to 29603516; 29573052; 33156547; 35445667
Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, OMIM:618010
Fetal anomalies v4.34 PIDD1 Achchuthan Shanmugasundram gene: PIDD1 was added
gene: PIDD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIDD1 were set to 33414379; 28397838; 34163010; 29302074
Phenotypes for gene: PIDD1 were set to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, OMIM:619827
Fetal anomalies v4.34 PI4KA Achchuthan Shanmugasundram gene: PI4KA was added
gene: PI4KA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 34415310
Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Fetal anomalies v4.34 PHF21A Achchuthan Shanmugasundram Source NHS GMS was added to PHF21A.
Mode of inheritance for gene PHF21A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725 for gene: PHF21A
Publications for gene: PHF21A were updated from to 31649809; 30487643; 22770980
Fetal anomalies v4.34 PHEX Achchuthan Shanmugasundram gene: PHEX was added
gene: PHEX was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PHEX were set to 9106524; 16055933; 19219621; 29791829
Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant, OMIM:307800
Fetal anomalies v4.34 PDE6D Achchuthan Shanmugasundram gene: PDE6D was added
gene: PDE6D was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE6D were set to 30423442; 24166846
Phenotypes for gene: PDE6D were set to Joubert syndrome 22, OMIM:615665
Fetal anomalies v4.34 PDE3A Achchuthan Shanmugasundram gene: PDE3A was added
gene: PDE3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE3A were set to 25961942
Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, OMIM:112410
Fetal anomalies v4.34 PCDH12 Achchuthan Shanmugasundram gene: PCDH12 was added
gene: PCDH12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 30178464; 27164683
Phenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280
Fetal anomalies v4.34 PAX1 Achchuthan Shanmugasundram gene: PAX1 was added
gene: PAX1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAX1 were set to 23851939; 29681087; 32111619
Phenotypes for gene: PAX1 were set to Otofaciocervical syndrome 2, OMIM:615560
Fetal anomalies v4.34 PARP6 Achchuthan Shanmugasundram gene: PARP6 was added
gene: PARP6 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PARP6 were set to 34067418
Phenotypes for gene: PARP6 were set to Microcephaly; Intellectual disability; Epilepsy
Fetal anomalies v4.34 PAM16 Achchuthan Shanmugasundram gene: PAM16 was added
gene: PAM16 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAM16 were set to 27354339; 24786642
Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM:613320
Fetal anomalies v4.34 PACS2 Achchuthan Shanmugasundram gene: PACS2 was added
gene: PACS2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PACS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PACS2 were set to 29656858; 34894068; 34859793
Phenotypes for gene: PACS2 were set to Developmental and epileptic encephalopathy 66, OMIM:618067
Fetal anomalies v4.34 PACS1 Achchuthan Shanmugasundram Source NHS GMS was added to PACS1.
Mode of inheritance for gene PACS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Schuurs-Hoeijmakers syndrome, OMIM:615009 for gene: PACS1
Publications for gene: PACS1 were updated from 30712880 to 30712880; 32672908; 23159249; 26842493
Fetal anomalies v4.34 ORAI1 Achchuthan Shanmugasundram gene: ORAI1 was added
gene: ORAI1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ORAI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ORAI1 were set to 31448844
Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2, OMIM:615883
Fetal anomalies v4.34 NUP188 Achchuthan Shanmugasundram gene: NUP188 was added
gene: NUP188 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP188 were set to 28726809; 32021605; 32275884
Phenotypes for gene: NUP188 were set to microcephaly; ID; Sandestig-Stefanova syndrome, OMIM:618804; structural brain abnormalities; cataract
Fetal anomalies v4.34 NSRP1 Achchuthan Shanmugasundram gene: NSRP1 was added
gene: NSRP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSRP1 were set to 34385670
Phenotypes for gene: NSRP1 were set to Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities, OMIM:620001
Fetal anomalies v4.34 NSD2 Achchuthan Shanmugasundram gene: NSD2 was added
gene: NSD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSD2 were set to 31171569; 30345613
Phenotypes for gene: NSD2 were set to Rauch-Steindl syndrome, OMIM:619695
Fetal anomalies v4.34 NPRL3 Achchuthan Shanmugasundram gene: NPRL3 was added
gene: NPRL3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPRL3 were set to 27173016; 33461085; 35136953; 26285051
Phenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3, OMIM:617118
Fetal anomalies v4.34 NPRL2 Achchuthan Shanmugasundram gene: NPRL2 was added
gene: NPRL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPRL2 were set to 29281825; 31625153; 22268191; 27173016; 33461085
Phenotypes for gene: NPRL2 were set to Epilepsy, familial focal, with variable foci 2, OMIM:617116
Fetal anomalies v4.34 NPL Achchuthan Shanmugasundram gene: NPL was added
gene: NPL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPL were set to 33082562
Phenotypes for gene: NPL were set to Sialic aciduria
Fetal anomalies v4.34 NOVA2 Achchuthan Shanmugasundram Source NHS GMS was added to NOVA2.
Mode of inheritance for gene NOVA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859 for gene: NOVA2
Publications for gene: NOVA2 were updated from to 32197073
Fetal anomalies v4.34 NONO Achchuthan Shanmugasundram Source NHS GMS was added to NONO.
Mode of inheritance for gene NONO was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967 for gene: NONO
Publications for gene: NONO were updated from 31680349; 32397791 to 27329731; 32397791; 26571461; 31680349; 27550220
Fetal anomalies v4.34 NLRP3 Achchuthan Shanmugasundram gene: NLRP3 was added
gene: NLRP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLRP3 were set to 12928894; 12483741; 12032915
Phenotypes for gene: NLRP3 were set to CINCA syndrome, OMIM:607115
Fetal anomalies v4.34 NKX2-6 Achchuthan Shanmugasundram gene: NKX2-6 was added
gene: NKX2-6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NKX2-6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-6 were set to 32198970; 15649947; 24421281; 25319568; 25380965
Phenotypes for gene: NKX2-6 were set to Persistent truncus arteriosus, OMIM:217095; Conotruncal heart malformations, OMIM:217095
Fetal anomalies v4.34 NID1 Achchuthan Shanmugasundram gene: NID1 was added
gene: NID1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NID1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NID1 were set to 30773799; 12480912; 25558065; 23674478
Phenotypes for gene: NID1 were set to Hydrocephalus with or without seizures; Dandy-Walker malformation and occipital cephalocele
Fetal anomalies v4.34 NFIB Achchuthan Shanmugasundram gene: NFIB was added
gene: NFIB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIB were set to 30388402; 32902921; 33130023
Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, OMIM:618286
Fetal anomalies v4.34 NFIA Achchuthan Shanmugasundram gene: NFIA was added
gene: NFIA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIA were set to 32926563; 35018717; 36553517; 33973697
Phenotypes for gene: NFIA were set to Brain malformations with or without urinary tract defects, OMIM:613735
Fetal anomalies v4.34 NEXN Achchuthan Shanmugasundram Source NHS GMS was added to NEXN.
Mode of inheritance for gene NEXN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NEXN were updated from 32058062; 33027564 to 33947203; 32058062; 35166435; 33027564; 33949776
Fetal anomalies v4.34 NCAPD2 Achchuthan Shanmugasundram gene: NCAPD2 was added
gene: NCAPD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPD2 were set to 27737959; 28097321; 31056748
Phenotypes for gene: NCAPD2 were set to Microcephaly 21, primary, autosomal recessive, OMIM:617983
Fetal anomalies v4.34 NAA15 Achchuthan Shanmugasundram Source NHS GMS was added to NAA15.
Mode of inheritance for gene NAA15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787 for gene: NAA15
Publications for gene: NAA15 were updated from to 31127942; 33557580
Fetal anomalies v4.34 MYSM1 Achchuthan Shanmugasundram gene: MYSM1 was added
gene: MYSM1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 33082562
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, OMIM:618116
Fetal anomalies v4.34 MYBPC3 Achchuthan Shanmugasundram Source NHS GMS was added to MYBPC3.
Mode of inheritance for gene MYBPC3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cardiomyopathy, hypertrophic, 4, OMIM:115197 for gene: MYBPC3
Publications for gene: MYBPC3 were updated from 19858127; 28749478 to 19858127; 16679492; 28749478; 17937428
Fetal anomalies v4.34 MVK Achchuthan Shanmugasundram gene: MVK was added
gene: MVK was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 27012807; 16722536
Phenotypes for gene: MVK were set to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377
Fetal anomalies v4.34 MTX2 Achchuthan Shanmugasundram gene: MTX2 was added
gene: MTX2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome, OMIM:619127
Fetal anomalies v4.34 MT-TL1 Achchuthan Shanmugasundram gene: MT-TL1 was added
gene: MT-TL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Publications for gene: MT-TL1 were set to 33082562
Phenotypes for gene: MT-TL1 were set to Mitochondrial tRNA deficiency
Fetal anomalies v4.34 MT-TE Achchuthan Shanmugasundram gene: MT-TE was added
gene: MT-TE was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Publications for gene: MT-TE were set to 33082562; 17161635
Phenotypes for gene: MT-TE were set to Mitochondrial tRNA deficiency
Fetal anomalies v4.34 MPZ Achchuthan Shanmugasundram Source Expert Review Amber was added to MPZ.
Source NHS GMS was added to MPZ.
Mode of inheritance for gene MPZ was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Hypomyelinating neuropathy, congenital, 2, OMIM:618184 for gene: MPZ
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 MPDZ Achchuthan Shanmugasundram gene: MPDZ was added
gene: MPDZ was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDZ were set to 29499638; 30518636; 23240096; 28556411
Phenotypes for gene: MPDZ were set to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219
Fetal anomalies v4.34 MNS1 Achchuthan Shanmugasundram gene: MNS1 was added
gene: MNS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNS1 were set to 30148830; 31534215
Phenotypes for gene: MNS1 were set to Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948
Fetal anomalies v4.34 MINPP1 Achchuthan Shanmugasundram gene: MINPP1 was added
gene: MINPP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33168985; 33257696
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia, type 16, OMIM:619527
Fetal anomalies v4.34 MGAT2 Achchuthan Shanmugasundram Source Expert Review Amber was added to MGAT2.
Source NHS GMS was added to MGAT2.
Added phenotypes Congenital disorder of glycosylation, type Iia, OMIM:212066 for gene: MGAT2
Publications for gene: MGAT2 were updated from to 33082562
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 MED27 Achchuthan Shanmugasundram gene: MED27 was added
gene: MED27 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286
Fetal anomalies v4.34 MED25 Achchuthan Shanmugasundram gene: MED25 was added
gene: MED25 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 32324310; 25792360; 32816121
Phenotypes for gene: MED25 were set to Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; hypospadias, thin corpus callosum, cerebral ventricular dilatation; multiple congenital anomalies; congenital heart defects; Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449
Fetal anomalies v4.34 MCIDAS Achchuthan Shanmugasundram gene: MCIDAS was added
gene: MCIDAS was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MCIDAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCIDAS were set to 25048963; 32802948; 30237576
Phenotypes for gene: MCIDAS were set to Hydrocephalus; Ciliary dyskinesia, primary, 42, OMIM:618695; Choroid plexus hyperplasia; Arachnoid cyst
Fetal anomalies v4.34 MBTPS1 Achchuthan Shanmugasundram gene: MBTPS1 was added
gene: MBTPS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBTPS1 were set to 32857899; 32420688; 30046013
Phenotypes for gene: MBTPS1 were set to ?Spondyloepiphyseal dysplasia, Kondo-Fu type, OMIM:618392
Fetal anomalies v4.34 MAST1 Achchuthan Shanmugasundram gene: MAST1 was added
gene: MAST1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 32818970; 32198973; 31721002; 30449657
Phenotypes for gene: MAST1 were set to cerebellar hypoplasia; corpus callosum anomalies; cortical malformations; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:61827
Fetal anomalies v4.34 MAPKAPK5 Achchuthan Shanmugasundram gene: MAPKAPK5 was added
gene: MAPKAPK5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKAPK5 were set to 35575217; 33442026
Phenotypes for gene: MAPKAPK5 were set to Neurocardiofaciodigital syndrome, OMIM:619869
Fetal anomalies v4.34 MAPK8IP3 Achchuthan Shanmugasundram gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8IP3 were set to 30945334; 30612693
Phenotypes for gene: MAPK8IP3 were set to cerebral atrophy; Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443; corpus callosum anomalies; polymicrogyria
Fetal anomalies v4.34 MAPK1 Achchuthan Shanmugasundram gene: MAPK1 was added
gene: MAPK1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK1 were set to 32721402
Phenotypes for gene: MAPK1 were set to Noonan syndrome 13, OMIM:619087
Fetal anomalies v4.34 MAP1B Achchuthan Shanmugasundram gene: MAP1B was added
gene: MAP1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP1B were set to 33772511; 30150678; 31317654; 30214071
Phenotypes for gene: MAP1B were set to Polymicrogyria; Periventricular nodular heterotopia 9, OMIM:618918
Fetal anomalies v4.34 MAN2C1 Achchuthan Shanmugasundram gene: MAN2C1 was added
gene: MAN2C1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2C1 were set to 35045343
Phenotypes for gene: MAN2C1 were set to Congenital disorder of deglycosylation 2, MIM# 619775
Fetal anomalies v4.34 MAB21L1 Achchuthan Shanmugasundram gene: MAB21L1 was added
gene: MAB21L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome OMIM:618479
Fetal anomalies v4.34 LTBP1 Achchuthan Shanmugasundram gene: LTBP1 was added
gene: LTBP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP1 were set to 33991472
Phenotypes for gene: LTBP1 were set to Cutis laxa, autosomal recessive, type IIE, OMIM:619451
Fetal anomalies v4.34 LAGE3 Achchuthan Shanmugasundram gene: LAGE3 was added
gene: LAGE3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: LAGE3 were set to 31069511; 28805828
Phenotypes for gene: LAGE3 were set to Galloway-Mowat syndrome 2, X-linked, OMIM:301006
Fetal anomalies v4.34 KIF4A Achchuthan Shanmugasundram gene: KIF4A was added
gene: KIF4A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KIF4A were set to 34346154; 30679815; 24812067
Phenotypes for gene: KIF4A were set to Hydrocephalus; Intellectual developmental disorder, X-linked 100, OMIM:300923
Fetal anomalies v4.34 KIF21B Achchuthan Shanmugasundram gene: KIF21B was added
gene: KIF21B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KIF21B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF21B were set to 32415109
Phenotypes for gene: KIF21B were set to Global developmental delay; Neurodevelopmental disorder, MONDO:0700092; Intellectual disability; Abnormality of brain morphology; Microcephaly
Fetal anomalies v4.34 KIAA0825 Achchuthan Shanmugasundram gene: KIAA0825 was added
gene: KIAA0825 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KIAA0825 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0825 were set to 30982135; 32147526; 33776623
Phenotypes for gene: KIAA0825 were set to Polydactyly, postaxial, type A10, OMIM:618498
Fetal anomalies v4.34 KIAA0556 Achchuthan Shanmugasundram gene: KIAA0556 was added
gene: KIAA0556 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0556 were set to 27245168; 26714646
Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26, OMIM:616784
Fetal anomalies v4.34 KDM1A Achchuthan Shanmugasundram Source NHS GMS was added to KDM1A.
Mode of inheritance for gene KDM1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728 for gene: KDM1A
Publications for gene: KDM1A were updated from to 27094131; 24838796; 26656649
Fetal anomalies v4.34 KCNQ1 Achchuthan Shanmugasundram Source NHS GMS was added to KCNQ1.
Mode of inheritance for gene KCNQ1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Long QT syndrome 1, OMIM:192500 for gene: KCNQ1
Publications for gene: KCNQ1 were updated from to 27539165
Fetal anomalies v4.34 KCNJ8 Achchuthan Shanmugasundram Source NHS GMS was added to KCNJ8.
Mode of inheritance for gene KCNJ8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ8 were updated from 24176758; 24700710; 25275207 to 25275207; 24700710; 24176758
Fetal anomalies v4.34 KCNH1 Achchuthan Shanmugasundram Source NHS GMS was added to KCNH1.
Mode of inheritance for gene KCNH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Zimmermann-Laband syndrome 1, OMIM:135500 for gene: KCNH1
Publications for gene: KCNH1 were updated from to 33811134
Fetal anomalies v4.34 KAT5 Achchuthan Shanmugasundram gene: KAT5 was added
gene: KAT5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT5 were set to 32822602
Phenotypes for gene: KAT5 were set to Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM:619103
Fetal anomalies v4.34 IQCE Achchuthan Shanmugasundram gene: IQCE was added
gene: IQCE was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQCE were set to 28488682; 31549751
Phenotypes for gene: IQCE were set to Polydactyly, postaxial, type A7 OMIM:617642
Fetal anomalies v4.34 INTS1 Achchuthan Shanmugasundram gene: INTS1 was added
gene: INTS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS1 were set to 28542170; 31428919; 30622326
Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857
Fetal anomalies v4.34 IKZF1 Achchuthan Shanmugasundram gene: IKZF1 was added
gene: IKZF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF1 were set to 33082562
Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13, OMIM:616873
Fetal anomalies v4.34 IFT74 Achchuthan Shanmugasundram gene: IFT74 was added
gene: IFT74 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 32144365; 27486776; 33531668
Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 22, OMIM:617119; Joubert syndrome 40, OMIM:619582
Fetal anomalies v4.34 IFT27 Achchuthan Shanmugasundram gene: IFT27 was added
gene: IFT27 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT27 were set to 25443296; 24488770; 26763875; 30761183
Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, OMIM:615996
Fetal anomalies v4.34 HYAL2 Achchuthan Shanmugasundram gene: HYAL2 was added
gene: HYAL2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL2 were set to 23172227; 28081210; 26515055; 34906488
Phenotypes for gene: HYAL2 were set to congenital cardiac malformations; Cleft lip and palate; cor triatriatum
Fetal anomalies v4.34 HSPA9 Achchuthan Shanmugasundram gene: HSPA9 was added
gene: HSPA9 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 26598328; 26491070; 32869452
Phenotypes for gene: HSPA9 were set to Anemia, sideroblastic, 4, OMIM:182170; Even-plus syndrome, OMIM:616854
Fetal anomalies v4.34 HS2ST1 Achchuthan Shanmugasundram gene: HS2ST1 was added
gene: HS2ST1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to arthrogryposis; Neurofacioskeletal syndrome with or without renal agenesis, OMIM:619194; multiple congenital anomalies
Fetal anomalies v4.34 HOXA2 Achchuthan Shanmugasundram gene: HOXA2 was added
gene: HOXA2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HOXA2 were set to 32649979; 27503514; 28109504; 18394579; 23775976; 31567444
Phenotypes for gene: HOXA2 were set to Microtia with or without hearing impairment (AD), OMIM:612290
Fetal anomalies v4.34 HMGB1 Achchuthan Shanmugasundram gene: HMGB1 was added
gene: HMGB1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HMGB1 were set to 34164801
Phenotypes for gene: HMGB1 were set to Neurodevelopmental disorder MONDO:0700092, HMGB1-related; intellectual disability; microcephaly
Fetal anomalies v4.34 HK1 Achchuthan Shanmugasundram gene: HK1 was added
gene: HK1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HK1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HK1 were set to 33082562
Phenotypes for gene: HK1 were set to Hemolytic anemia due to hexokinase deficiency, OMIM:235700; Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547
Fetal anomalies v4.34 HIST1H4C Achchuthan Shanmugasundram Source NHS GMS was added to HIST1H4C.
Mode of inheritance for gene HIST1H4C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758 for gene: HIST1H4C
Publications for gene: HIST1H4C were updated from to 28920961; 35202563
Fetal anomalies v4.34 HHAT Achchuthan Shanmugasundram gene: HHAT was added
gene: HHAT was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 33749989; 30912300; 24784881
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome, OMIM:600092
Fetal anomalies v4.34 HERC1 Achchuthan Shanmugasundram gene: HERC1 was added
gene: HERC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HERC1 were set to 28323226; 26138117; 27108999; 26153217
Phenotypes for gene: HERC1 were set to Macrocephaly, dysmorphic facies, and psychomotor retardation, OMIM:617011
Fetal anomalies v4.34 H3F3A Achchuthan Shanmugasundram Source Expert Review Amber was added to H3F3A.
Source NHS GMS was added to H3F3A.
Mode of inheritance for gene H3F3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720 for gene: H3F3A
Publications for gene: H3F3A were updated from to 33268356
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 GTPBP2 Achchuthan Shanmugasundram gene: GTPBP2 was added
gene: GTPBP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 29449720; 30790272; 26675814
Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, OMIM:617988
Fetal anomalies v4.34 GRM7 Achchuthan Shanmugasundram gene: GRM7 was added
gene: GRM7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM7 were set to 32286009; 32248644
Phenotypes for gene: GRM7 were set to Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922
Fetal anomalies v4.34 GLMN Achchuthan Shanmugasundram Source Expert Review Amber was added to GLMN.
Source NHS GMS was added to GLMN.
Mode of inheritance for gene GLMN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Glomulovenous malformations, OMIM:138000 for gene: GLMN
Publications for gene: GLMN were updated from to 33082562; 23801931
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 GHR Achchuthan Shanmugasundram Source Expert Review Amber was added to GHR.
Source NHS GMS was added to GHR.
Added phenotypes Growth hormone insensitivity, partial, OMIM:604271; Laron dwarfism, OMIM:262500 for gene: GHR
Publications for gene: GHR were updated from to 9360502
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 GDF11 Achchuthan Shanmugasundram gene: GDF11 was added
gene: GDF11 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF11 were set to 31215115; 34113007
Phenotypes for gene: GDF11 were set to ?Vertebral hypersegmentation and orofacial anomalies, OMIM:619122
Fetal anomalies v4.34 GATA5 Achchuthan Shanmugasundram gene: GATA5 was added
gene: GATA5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATA5 were set to 33082562
Phenotypes for gene: GATA5 were set to Congenital heart defects, multiple types, 5, OMIM:617912
Fetal anomalies v4.34 GABRB2 Achchuthan Shanmugasundram Source NHS GMS was added to GABRB2.
Mode of inheritance for gene GABRB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental and epileptic encephalopathy 92, OMIM:617829 for gene: GABRB2
Publications for gene: GABRB2 were updated from to 33325057; 27789573; 29100083
Fetal anomalies v4.34 G6PD Achchuthan Shanmugasundram gene: G6PD was added
gene: G6PD was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: G6PD were set to 33082562
Phenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism), OMIM:300908
Fetal anomalies v4.34 FRMPD4 Achchuthan Shanmugasundram Source NHS GMS was added to FRMPD4.
Source Expert Review Red was added to FRMPD4.
Added phenotypes Intellectual Disability, X-linked 104, OMIM:300983 for gene: FRMPD4
Publications for gene: FRMPD4 were updated from to 25644381; 29267967
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 FRA10AC1 Achchuthan Shanmugasundram gene: FRA10AC1 was added
gene: FRA10AC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRA10AC1 were set to 34694367
Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113
Fetal anomalies v4.34 FOXJ1 Achchuthan Shanmugasundram gene: FOXJ1 was added
gene: FOXJ1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXJ1 were set to 31630787
Phenotypes for gene: FOXJ1 were set to Ciliary dyskinesia, primary, 43, OMIM:618699
Fetal anomalies v4.34 FGF9 Achchuthan Shanmugasundram Source NHS GMS was added to FGF9.
Mode of inheritance for gene FGF9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Multiple synostoses syndrome 3, OMIM:612961 for gene: FGF9
Publications for gene: FGF9 were updated from to 33174625; 19589401; 28730625; 33140402; 19219044
Fetal anomalies v4.34 FBXW11 Achchuthan Shanmugasundram gene: FBXW11 was added
gene: FBXW11 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXW11 were set to 31402090
Phenotypes for gene: FBXW11 were set to Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914
Fetal anomalies v4.34 FBRSL1 Achchuthan Shanmugasundram gene: FBRSL1 was added
gene: FBRSL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBRSL1 were set to 32424618; 34805182
Phenotypes for gene: FBRSL1 were set to congenital heart defect; Congenital malformations
Fetal anomalies v4.34 FAT1 Achchuthan Shanmugasundram gene: FAT1 was added
gene: FAT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT1 were set to 34013115; 33418956; 34202629; 26905694; 32902815; 30862798
Phenotypes for gene: FAT1 were set to hand and foot anomalies; nephropathy; ocular anomalies; multiple congenital anomalies
Fetal anomalies v4.34 FAM149B1 Achchuthan Shanmugasundram gene: FAM149B1 was added
gene: FAM149B1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to 30905400
Phenotypes for gene: FAM149B1 were set to Joubert syndrome 36, OMIM:618763
Fetal anomalies v4.34 EXOSC9 Achchuthan Shanmugasundram gene: EXOSC9 was added
gene: EXOSC9 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOSC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC9 were set to 30690203; 33040083; 29727687
Phenotypes for gene: EXOSC9 were set to Pontocerebellar hypoplasia, type 1D, OMIM:618065
Fetal anomalies v4.34 EXOSC8 Achchuthan Shanmugasundram gene: EXOSC8 was added
gene: EXOSC8 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC8 were set to 24989451; 34210538
Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Fetal anomalies v4.34 EXOSC5 Achchuthan Shanmugasundram gene: EXOSC5 was added
gene: EXOSC5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOSC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC5 were set to 32504085; 29302074
Phenotypes for gene: EXOSC5 were set to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, OMIM:619576
Fetal anomalies v4.34 EXOC7 Achchuthan Shanmugasundram gene: EXOC7 was added
gene: EXOC7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC7 were set to 32103185
Phenotypes for gene: EXOC7 were set to Neurodevelopmental disorder with seizures and brain atrophy, OMIM:619072
Fetal anomalies v4.34 ERGIC1 Achchuthan Shanmugasundram gene: ERGIC1 was added
gene: ERGIC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ERGIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERGIC1 were set to 31230720; 28317099; 34037256
Phenotypes for gene: ERGIC1 were set to Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100
Fetal anomalies v4.34 ERBB3 Achchuthan Shanmugasundram gene: ERBB3 was added
gene: ERBB3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERBB3 were set to 17701904; 31752936; 33720042
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, OMIM:607598
Fetal anomalies v4.34 EMC1 Achchuthan Shanmugasundram Source NHS GMS was added to EMC1.
Mode of inheritance for gene EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 for gene: EMC1
Publications for gene: EMC1 were updated from to 29271071; 26942288
Fetal anomalies v4.34 EIF3F Achchuthan Shanmugasundram gene: EIF3F was added
gene: EIF3F was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 33736665
Phenotypes for gene: EIF3F were set to Intellectual developmental disorder, autosomal recessive 67, OMIM:618295
Fetal anomalies v4.34 EFEMP2 Achchuthan Shanmugasundram gene: EFEMP2 was added
gene: EFEMP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP2 were set to 19664000; 23532871; 31548410; 30140196
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, OMIM:614437
Fetal anomalies v4.34 EEF2 Achchuthan Shanmugasundram gene: EEF2 was added
gene: EEF2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EEF2 were set to 33355653
Phenotypes for gene: EEF2 were set to hydrocephalus; Neurodevelopmental disorder; macrocephaly
Fetal anomalies v4.34 EDN3 Achchuthan Shanmugasundram gene: EDN3 was added
gene: EDN3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EDN3 were set to 9359047; 27370713; 11303518; 10231870; 8630502; 30171849
Phenotypes for gene: EDN3 were set to Central hypoventilation syndrome, congenital, OMIM:209880; Waardenburg syndrome, type 4B, OMIM:613265; {Hirschsprung disease, susceptibility to, 4}, OMIM:613712
Fetal anomalies v4.34 DYNC1I2 Achchuthan Shanmugasundram gene: DYNC1I2 was added
gene: DYNC1I2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Fetal anomalies v4.34 DYNC1I1 Achchuthan Shanmugasundram gene: DYNC1I1 was added
gene: DYNC1I1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DYNC1I1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYNC1I1 were set to 32219838; 25231166; 22914741
Phenotypes for gene: DYNC1I1 were set to Split-hand/split-foot malformation (SHFM)
Fetal anomalies v4.34 DPF2 Achchuthan Shanmugasundram Source NHS GMS was added to DPF2.
Mode of inheritance for gene DPF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Coffin-Siris syndrome 7, OMIM:618027 for gene: DPF2
Publications for gene: DPF2 were updated from to 29429572; 31706665
Fetal anomalies v4.34 DLL1 Achchuthan Shanmugasundram gene: DLL1 was added
gene: DLL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709
Fetal anomalies v4.34 DICER1 Achchuthan Shanmugasundram gene: DICER1 was added
gene: DICER1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DICER1 were set to 35114704; 29343557; 33208384; 31232238; 27960159; 24676357; 26227654
Phenotypes for gene: DICER1 were set to GLOW syndrome, somatic mosaic, OMIM:618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors , OMIM:138800; Pleuropulmonary blastoma, OMIM:601200
Fetal anomalies v4.34 DEAF1 Achchuthan Shanmugasundram Source NHS GMS was added to DEAF1.
Mode of inheritance for gene DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Vulto-van Silfout-de Vries syndrome, OMIM:615828; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171 for gene: DEAF1
Publications for gene: DEAF1 were updated from to 28940898; 30923367; 26048982; 24726472; 26834045
Fetal anomalies v4.34 DDX6 Achchuthan Shanmugasundram Source NHS GMS was added to DDX6.
Source Expert Review Red was added to DDX6.
Mode of inheritance for gene DDX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653 for gene: DDX6
Publications for gene: DDX6 were updated from to 31422817
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 D2HGDH Achchuthan Shanmugasundram gene: D2HGDH was added
gene: D2HGDH was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, OMIM:600721
Fetal anomalies v4.34 CYBB Achchuthan Shanmugasundram gene: CYBB was added
gene: CYBB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CYBB were set to 16795136; 33082562
Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, OMIM:306400
Fetal anomalies v4.34 CWF19L1 Achchuthan Shanmugasundram gene: CWF19L1 was added
gene: CWF19L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to 27016154
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, OMIM:616127
Fetal anomalies v4.34 CTNNA2 Achchuthan Shanmugasundram gene: CTNNA2 was added
gene: CTNNA2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174
Fetal anomalies v4.34 COLGALT1 Achchuthan Shanmugasundram gene: COLGALT1 was added
gene: COLGALT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLGALT1 were set to 31759980; 30412317; 33709034
Phenotypes for gene: COLGALT1 were set to Brain small vessel disease 3, MIM# 618360
Fetal anomalies v4.34 COL9A3 Achchuthan Shanmugasundram Source NHS GMS was added to COL9A3.
Mode of inheritance for gene COL9A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Stickler syndrome, type VI, OMIM:620022 for gene: COL9A3
Publications for gene: COL9A3 were updated from to 15551337; 31090205; 25381065; 24273071; 33570243; 30450842
Fetal anomalies v4.34 COL27A1 Achchuthan Shanmugasundram gene: COL27A1 was added
gene: COL27A1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL27A1 were set to 24986830; 28276056; 28322503
Phenotypes for gene: COL27A1 were set to Steel syndrome, OMIM:615155
Fetal anomalies v4.34 COL25A1 Achchuthan Shanmugasundram Source NHS GMS was added to COL25A1.
Source Expert Review Red was added to COL25A1.
Added phenotypes Arthrogryposis multiplex congenita, MONDO:0015168 for gene: COL25A1
Publications for gene: COL25A1 were updated from to 26437029; 35077597
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 COA7 Achchuthan Shanmugasundram gene: COA7 was added
gene: COA7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 27683825; 29718187
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, OMIM:618387
Fetal anomalies v4.34 CLTC Achchuthan Shanmugasundram Source NHS GMS was added to CLTC.
Mode of inheritance for gene CLTC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLTC were updated from 33743358 to 33743358; 26822784; 31776469; 34230591; 29100083
Fetal anomalies v4.34 CLMP Achchuthan Shanmugasundram Source NHS GMS was added to CLMP.
Source Expert Review Red was added to CLMP.
Added phenotypes Congenital short bowel syndrome, OMIM:615237 for gene: CLMP
Publications for gene: CLMP were updated from to 22155368
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 CITED2 Achchuthan Shanmugasundram gene: CITED2 was added
gene: CITED2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CITED2 were set to 16287139; 29536580; 33706167; 31515672; 11694877; 33439552
Phenotypes for gene: CITED2 were set to Atrial septal defect 8, OMIM:614433; Ventricular septal defect 2, OMIM:614431; Congenital heart disease
Fetal anomalies v4.34 CFAP52 Achchuthan Shanmugasundram gene: CFAP52 was added
gene: CFAP52 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP52 were set to 33139725; 25469542
Phenotypes for gene: CFAP52 were set to Heterotaxy, visceral, 10, autosomal, with male infertility, OMIM:619607
Fetal anomalies v4.34 CFAP45 Achchuthan Shanmugasundram gene: CFAP45 was added
gene: CFAP45 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP45 were set to 33139725
Phenotypes for gene: CFAP45 were set to Heterotaxy, visceral, 11, autosomal, with male infertility, OMIM:619608
Fetal anomalies v4.34 CEP85L Achchuthan Shanmugasundram gene: CEP85L was added
gene: CEP85L was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEP85L were set to 32097630
Phenotypes for gene: CEP85L were set to Lissencephaly 10, posterior predominant, OMIM:618873
Fetal anomalies v4.34 CAPN15 Achchuthan Shanmugasundram gene: CAPN15 was added
gene: CAPN15 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN15 were set to 32885237
Phenotypes for gene: CAPN15 were set to microphthalmia HP:0000568; coloboma HP:0000589; Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318
Fetal anomalies v4.34 CALCRL Achchuthan Shanmugasundram Source Expert Review Amber was added to CALCRL.
Source NHS GMS was added to CALCRL.
Publications for gene: CALCRL were updated from 30115739; 16537897 to 33082562; 30115739; 16537897
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 CACNA1A Achchuthan Shanmugasundram Source NHS GMS was added to CACNA1A.
Mode of inheritance for gene CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental and epileptic encephalopathy 42, OMIM:617106 for gene: CACNA1A
Publications for gene: CACNA1A were updated from to 27476654
Fetal anomalies v4.34 C2orf69 Achchuthan Shanmugasundram gene: C2orf69 was added
gene: C2orf69 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 33945503; 34038740
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency 53, OMIM:619423
Fetal anomalies v4.34 BRF1 Achchuthan Shanmugasundram gene: BRF1 was added
gene: BRF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRF1 were set to 27748960; 25561519
Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome, OMIM:616202
Fetal anomalies v4.34 BRD4 Achchuthan Shanmugasundram gene: BRD4 was added
gene: BRD4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRD4 were set to 34035299; 30302754; 29379197; 11997514
Phenotypes for gene: BRD4 were set to Cornelia de Lange syndrome 6, OMIM:620568
Fetal anomalies v4.34 BRCA1 Achchuthan Shanmugasundram Source Expert Review Amber was added to BRCA1.
Source NHS GMS was added to BRCA1.
Added phenotypes Fanconi anaemia, complementation group S, OMIM:617883 for gene: BRCA1
Publications for gene: BRCA1 were updated from to 29712865; 29133208; 34680915
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 BCAS3 Achchuthan Shanmugasundram gene: BCAS3 was added
gene: BCAS3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to Hengel-Maroofian-Schols syndrome, OMIM:619641
Fetal anomalies v4.34 AUTS2 Achchuthan Shanmugasundram Source NHS GMS was added to AUTS2.
Mode of inheritance for gene AUTS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AUTS2 were updated from to 23332918; 25205402; 31474318
Fetal anomalies v4.34 ATP6V1B2 Achchuthan Shanmugasundram Source NHS GMS was added to ATP6V1B2.
Source Expert Review Red was added to ATP6V1B2.
Mode of inheritance for gene ATP6V1B2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480; Zimmermann-Laband syndrome 2, OMIM:616455 for gene: ATP6V1B2
Publications for gene: ATP6V1B2 were updated from to 28396750; 24913193; 25915598
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 ATP1A3 Achchuthan Shanmugasundram Source Expert Review Amber was added to ATP1A3.
Source NHS GMS was added to ATP1A3.
Mode of inheritance for gene ATP1A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Polymicrogyria; Developmental and epileptic encephalopathy 99, OMIM:619606 for gene: ATP1A3
Publications for gene: ATP1A3 were updated from to 33880529; 33762331
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 ATP11C Achchuthan Shanmugasundram gene: ATP11C was added
gene: ATP11C was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATP11C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP11C were set to 33082562
Phenotypes for gene: ATP11C were set to ?Hemolytic anemia, congenital, X-linked, OMIM:301015
Fetal anomalies v4.34 ATN1 Achchuthan Shanmugasundram gene: ATN1 was added
gene: ATN1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATN1 were set to 30827498; 34212383
Phenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
Fetal anomalies v4.34 ATAD1 Achchuthan Shanmugasundram gene: ATAD1 was added
gene: ATAD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD1 were set to 29390050; 29659736; 28180185
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, OMIM:618011
Fetal anomalies v4.34 ASXL2 Achchuthan Shanmugasundram Source NHS GMS was added to ASXL2.
Mode of inheritance for gene ASXL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Shashi-Pena syndrome, OMIM:617190 for gene: ASXL2
Publications for gene: ASXL2 were updated from to 27693232; 33751773
Fetal anomalies v4.34 ARL3 Achchuthan Shanmugasundram gene: ARL3 was added
gene: ARL3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812; 16565502
Phenotypes for gene: ARL3 were set to Joubert syndrome 35, OMIM:618161
Fetal anomalies v4.34 ARID2 Achchuthan Shanmugasundram Source NHS GMS was added to ARID2.
Mode of inheritance for gene ARID2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Coffin-Siris syndrome 6, OMIM:617808 for gene: ARID2
Publications for gene: ARID2 were updated from to 28884947; 26238514; 35813374; 30838730; 28124119; 29698805
Fetal anomalies v4.34 ARF1 Achchuthan Shanmugasundram gene: ARF1 was added
gene: ARF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARF1 were set to 28868155; 34353862
Phenotypes for gene: ARF1 were set to Periventricular nodular heterotopia 8, OMIM:618185
Fetal anomalies v4.34 APC2 Achchuthan Shanmugasundram gene: APC2 was added
gene: APC2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, OMIM:618677
Fetal anomalies v4.34 ANKRD17 Achchuthan Shanmugasundram gene: ANKRD17 was added
gene: ANKRD17 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD17 were set to 33909992
Phenotypes for gene: ANKRD17 were set to multiple congenital malformations; Chopra-Amiel-Gordon syndrome, OMIM:619504
Fetal anomalies v4.34 ANKLE2 Achchuthan Shanmugasundram gene: ANKLE2 was added
gene: ANKLE2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ANKLE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANKLE2 were set to 31735666; 25259927; 30214071
Phenotypes for gene: ANKLE2 were set to Microcephaly 16, primary, autosomal recessive, OMIM:616681
Fetal anomalies v4.34 ANGPT2 Achchuthan Shanmugasundram Source NHS GMS was added to ANGPT2.
Mode of inheritance for gene ANGPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes hydrops fetalis, MONDO:0015193 for gene: ANGPT2
Fetal anomalies v4.34 AMBRA1 Achchuthan Shanmugasundram Source NHS GMS was added to AMBRA1.
Source Expert Review Red was added to AMBRA1.
Publications for gene: AMBRA1 were updated from 17589504; 32333458 to 32333458; 17589504
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 ALPK3 Achchuthan Shanmugasundram gene: ALPK3 was added
gene: ALPK3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPK3 were set to 26846950; 28630369
Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, OMIM:618052
Fetal anomalies v4.34 ALG14 Achchuthan Shanmugasundram gene: ALG14 was added
gene: ALG14 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to 34971077; 23404334; 28733338; 30221345
Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227; Myopathy, epilepsy, and progressive cerebral atrophy, OMIM:619036
Fetal anomalies v4.34 ALDH1A2 Achchuthan Shanmugasundram gene: ALDH1A2 was added
gene: ALDH1A2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A2 were set to 33565183; 36263470
Phenotypes for gene: ALDH1A2 were set to Diaphragmatic hernia 4, with cardiovascular defects, OMIM:620025
Fetal anomalies v4.34 ALB Achchuthan Shanmugasundram gene: ALB was added
gene: ALB was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALB were set to 31057599; 15300429; 23730173
Phenotypes for gene: ALB were set to Analbuminemia, OMIM:616000
Fetal anomalies v4.34 AIMP1 Achchuthan Shanmugasundram Source NHS GMS was added to AIMP1.
Source Expert Review Red was added to AIMP1.
Added phenotypes Leukodystrophy, hypomyelinating, 3, OMIM:260600 for gene: AIMP1
Publications for gene: AIMP1 were updated from to 32531460; 33402283; 21092922; 24958424; 30477741; 30486714; 26173967
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 AFF3 Achchuthan Shanmugasundram Source NHS GMS was added to AFF3.
Mode of inheritance for gene AFF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes KINSSHIP syndrome, OMIM:619297 for gene: AFF3
Publications for gene: AFF3 were updated from to 31388108; 33961779
Fetal anomalies v4.34 ADCY6 Achchuthan Shanmugasundram gene: ADCY6 was added
gene: ADCY6 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY6 were set to 33820833; 26257172; 24319099; 31846058
Phenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8, OMIM:616287; MONDO:0014570
Fetal anomalies v4.34 ADAMTS19 Achchuthan Shanmugasundram gene: ADAMTS19 was added
gene: ADAMTS19 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS19 were set to 31844321; 32323311
Phenotypes for gene: ADAMTS19 were set to Cardiac valvular dysplasia 2, OMIM:620067
Fetal anomalies v4.34 ACVRL1 Achchuthan Shanmugasundram Source NHS GMS was added to ACVRL1.
Mode of inheritance for gene ACVRL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVRL1 were updated from 27381467; 32170914 to 21988128; 26126400; 27381467; 32170914
Fetal anomalies v4.34 ACVR1 Achchuthan Shanmugasundram Source NHS GMS was added to ACVR1.
Mode of inheritance for gene ACVR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Fibrodysplasia ossificans progressiva, OMIM:135100 for gene: ACVR1
Publications for gene: ACVR1 were updated from to 16642017; 29089047
Fetal anomalies v4.34 ACSL4 Achchuthan Shanmugasundram Source NHS GMS was added to ACSL4.
Source Expert Review Red was added to ACSL4.
Added phenotypes Mental retardation, X-linked 63 , OMIM:300387 for gene: ACSL4
Publications for gene: ACSL4 were updated from to 12525535
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 ABHD16A Achchuthan Shanmugasundram gene: ABHD16A was added
gene: ABHD16A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD16A were set to 34866177; 34489854; 34587489
Phenotypes for gene: ABHD16A were set to Spastic paraplegia 86, autosomal recessive, OMIM:619735
Fetal anomalies v4.33 RMRP Sarah Leigh commented on gene: RMRP
Fetal anomalies v4.33 H19 Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: H19.
Fetal anomalies v4.33 GATA1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: GATA1.
Tag Q3_24_expert_review tag was added to gene: GATA1.
Fetal anomalies v4.33 GATA1 Sarah Leigh changed review comment from: Three GATA1 variants have been associated with OMIM:301083, including fetal hydrops in at least three unrelated cases (PMID: 20301538; 30914438; 29949202; 35580337).; to: Three GATA1 variants have been associated with OMIM:301083, including fetal hydrops in at least three unrelated cases (PMID: 20301538; 30914438; 29949202; 35580337). This gene could be relevant to the fetal anomalies panel.
Fetal anomalies v4.33 GATA1 Sarah Leigh Classified gene: GATA1 as Amber List (moderate evidence)
Fetal anomalies v4.33 GATA1 Sarah Leigh Gene: gata1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.32 GATA1 Sarah Leigh Entity copied from Fetal hydrops v1.86
Fetal anomalies v4.32 GATA1 Sarah Leigh gene: GATA1 was added
gene: GATA1 was added to Fetal anomalies. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GATA1 were set to 10700180; 33082562; 20301538; 30914438; 29949202; 35580337
Phenotypes for gene: GATA1 were set to Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835; Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083
Fetal anomalies v4.31 MT-TP Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP.
Fetal anomalies v4.31 RMRP Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Fetal anomalies v4.31 SNORD118 Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORD118.
Fetal anomalies v4.31 RNU4ATAC Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC.
Fetal anomalies v4.31 DCC Achchuthan Shanmugasundram Classified gene: DCC as Amber List (moderate evidence)
Fetal anomalies v4.31 DCC Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Fetal anomalies v4.31 DCC Achchuthan Shanmugasundram Gene: dcc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.30 DCC Achchuthan Shanmugasundram Phenotypes for gene: DCC were changed from Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability to Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542
Fetal anomalies v4.29 DCC Achchuthan Shanmugasundram Publications for gene: DCC were set to
Fetal anomalies v4.28 DCC Achchuthan Shanmugasundram Mode of inheritance for gene: DCC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.27 DCC Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DCC.
Fetal anomalies v4.27 DCC Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 19127048, 19720981, 20431009, 21242494, 28250454, 31697046, 28250456, 33141514; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600, Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.27 MIR17HG Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: MIR17HG.
Fetal anomalies v4.27 FZD6 Sarah Leigh Phenotypes for gene: FZD6 were changed from NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10 to Nail disorder, nonsyndromic congenital, 1, OMIM:161050
Fetal anomalies v4.26 FZD6 Sarah Leigh Publications for gene: FZD6 were set to
Fetal anomalies v4.25 FZD6 Sarah Leigh Classified gene: FZD6 as Amber List (moderate evidence)
Fetal anomalies v4.25 FZD6 Sarah Leigh Gene: fzd6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.24 FZD6 Sarah Leigh reviewed gene: FZD6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.24 ANGPT2 Sarah Leigh Entity copied from Fetal hydrops v1.67
Fetal anomalies v4.24 ANGPT2 Sarah Leigh gene: ANGPT2 was added
gene: ANGPT2 was added to Fetal anomalies. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: ANGPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANGPT2 were set to 32908006; 34876502
Phenotypes for gene: ANGPT2 were set to Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662
Fetal anomalies v4.23 ESAM Achchuthan Shanmugasundram Tag Q4_23_expert_review was removed from gene: ESAM.
Tag Q4_23_NHS_review tag was added to gene: ESAM.
Fetal anomalies v4.23 MED12 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v4.23 MED12 Achchuthan Shanmugasundram reviewed gene: MED12: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.23 USP14 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are four unrelated families snd functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.; to: Comment on list classification: There are four unrelated families and functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Fetal anomalies v4.23 USP14 Achchuthan Shanmugasundram Classified gene: USP14 as Amber List (moderate evidence)
Fetal anomalies v4.23 USP14 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated families snd functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Fetal anomalies v4.23 USP14 Achchuthan Shanmugasundram Gene: usp14 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.22 USP14 Achchuthan Shanmugasundram Publications for gene: USP14 were set to 38469793
Fetal anomalies v4.21 USP14 Achchuthan Shanmugasundram Phenotypes for gene: USP14 were changed from Syndromic disease MONDO:0002254, USP14-related to syndromic disease, MONDO:0002254; distal arthrogryposis, MONDO:0019942
Fetal anomalies v4.20 USP14 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: USP14.
Fetal anomalies v4.20 USP14 Achchuthan Shanmugasundram reviewed gene: USP14: Rating: GREEN; Mode of pathogenicity: None; Publications: 35066879, 38469793; Phenotypes: syndromic disease, MONDO:0002254, distal arthrogryposis, MONDO:0019942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.20 MDFIC Achchuthan Shanmugasundram Classified gene: MDFIC as Amber List (moderate evidence)
Fetal anomalies v4.20 MDFIC Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six unrelated cases and functional evidence) for the promotion of this gene to green rating in the next GMS update.
Fetal anomalies v4.20 MDFIC Achchuthan Shanmugasundram Gene: mdfic has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.19 MDFIC Achchuthan Shanmugasundram Phenotypes for gene: MDFIC were changed from conducting lymphatic anomaly with lymphedema to Lymphatic malformation 12, OMIM:620014
Fetal anomalies v4.18 MDFIC Achchuthan Shanmugasundram Publications for gene: MDFIC were set to PMID: 35235341
Fetal anomalies v4.17 MDFIC Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: MDFIC.
Fetal anomalies v4.17 MDFIC Achchuthan Shanmugasundram reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 35235341; Phenotypes: Lymphatic malformation 12, OMIM:620014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.17 KCNK9 Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: KCNK9.
Fetal anomalies v4.17 KCNT1 Achchuthan Shanmugasundram Classified gene: KCNT1 as Amber List (moderate evidence)
Fetal anomalies v4.17 KCNT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, PMID:36307859 reported a foetus with increased nuchal translucency and bilateral choroid plexus cysts. Hence, the rating can be updated from red to amber.
Fetal anomalies v4.17 KCNT1 Achchuthan Shanmugasundram Gene: kcnt1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.16 KCNT1 Achchuthan Shanmugasundram Mode of inheritance for gene: KCNT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.15 KCNK9 Achchuthan Shanmugasundram Classified gene: KCNK9 as Amber List (moderate evidence)
Fetal anomalies v4.15 KCNK9 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are several unrelated cases reported with KCNK9 variants and Birk-Barel syndrome (MIM #612292). Clinical presentations include motor and speech delay, impaired intellectual development, early feeding difficulties, muscular hypotonia, behavioral abnormalities and dysmorphic features.

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

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

Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v4.15 KCNK9 Achchuthan Shanmugasundram Gene: kcnk9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.14 KCNK9 Achchuthan Shanmugasundram Phenotypes for gene: KCNK9 were changed from to Birk-Barel syndrome, OMIM:612292
Fetal anomalies v4.13 KCNK9 Achchuthan Shanmugasundram Publications for gene: KCNK9 were set to PMID: 36307859
Fetal anomalies v4.12 KCNK9 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: KCNK9.
Fetal anomalies v4.12 KCNK9 Achchuthan Shanmugasundram reviewed gene: KCNK9: Rating: GREEN; Mode of pathogenicity: None; Publications: 36307859; Phenotypes: Birk-Barel syndrome, OMIM:612292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v4.12 GNB2 Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: GNB2.
Fetal anomalies v4.12 GNB2 Achchuthan Shanmugasundram Classified gene: GNB2 as Amber List (moderate evidence)
Fetal anomalies v4.12 GNB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, monoallelic GNB2 variants are associated with a neurodevelopmental disorder with features including dysmorphic facial features, cardiac and renal abnormalities.

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

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

Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v4.12 GNB2 Achchuthan Shanmugasundram Gene: gnb2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.11 GNB2 Achchuthan Shanmugasundram Phenotypes for gene: GNB2 were changed from to Neurodevelopmental disorder with hypotonia and dysmorphic facies, OMIM:619503
Fetal anomalies v4.10 GNB2 Achchuthan Shanmugasundram Publications for gene: GNB2 were set to 36658419
Fetal anomalies v4.9 GNB2 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: GNB2.
Fetal anomalies v4.9 GNB2 Achchuthan Shanmugasundram reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31698099, 34183358, 36658419; Phenotypes: Neurodevelopmental disorder with hypotonia and dysmorphic facies, OMIM:619503; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.9 CLCN5 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: AS reviewed by Sarah Graham, this gene has been rated red in this panel.; to: Comment on list classification: As reviewed by Sarah Graham, this gene has been rated red in this panel.
Fetal anomalies v4.9 CLCN5 Achchuthan Shanmugasundram Classified gene: CLCN5 as Red List (low evidence)
Fetal anomalies v4.9 CLCN5 Achchuthan Shanmugasundram Added comment: Comment on list classification: AS reviewed by Sarah Graham, this gene has been rated red in this panel.
Fetal anomalies v4.9 CLCN5 Achchuthan Shanmugasundram Gene: clcn5 has been classified as Red List (Low Evidence).
Fetal anomalies v4.8 CLCN5 Achchuthan Shanmugasundram Classified gene: CLCN5 as Red List (low evidence)
Fetal anomalies v4.8 CLCN5 Achchuthan Shanmugasundram Gene: clcn5 has been classified as Red List (Low Evidence).
Fetal anomalies v4.7 ARV1 Achchuthan Shanmugasundram Classified gene: ARV1 as Amber List (moderate evidence)
Fetal anomalies v4.7 ARV1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, there are four cases from three different families (including two foetuses from a single family) reported with biallelic ARV1 variants and prenatal abnormalities. However, it should be noted that multiple major structural anomalies were not reported in these cases. Hence, this gene should be rated amber with the current evidence.
Fetal anomalies v4.7 ARV1 Achchuthan Shanmugasundram Gene: arv1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.6 ARV1 Achchuthan Shanmugasundram Phenotypes for gene: ARV1 were changed from to Developmental and epileptic encephalopathy 38, OMIM:617020
Fetal anomalies v4.5 ARV1 Achchuthan Shanmugasundram Publications for gene: ARV1 were set to PMID: 36307859; 34296759
Fetal anomalies v4.4 ARV1 Achchuthan Shanmugasundram reviewed gene: ARV1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34296759, 36307859; Phenotypes: Developmental and epileptic encephalopathy 38, OMIM:617020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.4 CLCN5 Sarah Leigh Phenotypes for gene: CLCN5 were changed from to Dent disease 1, OMIM:300009; Hypophosphatemic rickets, OMIM:300554; Nephrolithiasis, type I, OMIM:310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990
Fetal anomalies v4.3 GNB2 Sarah Graham gene: GNB2 was added
gene: GNB2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB2 were set to 36658419
Mode of pathogenicity for gene: GNB2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: GNB2 was set to GREEN
Added comment: Gene associated with autosomal dominant neurodevelopmental disorder; features include dysmorphic facial features, cardiac and renal abnormalities (OMIM #619503). Recurrent de novo pathogenic missense variant p.(Lys89Glu) (https://www.ncbi.nlm.nih.gov/clinvar/variation/1217306/) reported in a fetus with phenotype consistent with this gene: cardiac abnormalities (hypoplastic left heart and hypoplastic aortic arch, double outlet right ventricle, great arteries located side-by-side, ventricular septal defect, persistent left superior vena cava connecting to coronary sinus), renal agenesis, mildly dysmorphic facies (Byrne 2023 PMID: 36658419).
Sources: Literature
Fetal anomalies v4.3 KCNT1 Sarah Graham reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36307859; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.3 CLCN5 Sarah Graham gene: CLCN5 was added
gene: CLCN5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CLCN5 were set to 36307859; 36495297; 37229200
Review for gene: CLCN5 was set to RED
Added comment: Loss-of-function variants associated with X-linked recessive renal tubular disorders. Maternally inherited hemizygous splice variant, c.934-1G>T, reported in 3 male fetuses with variable phenotypes across 3 studies from the same centre. Phenotypes in reported cases: polyhydramnios and large size for gestational age (Fu 2022 PMID: 36307859, case 229); growth restriction, polyhydramnios, pre-term birth at 31 weeks (Zhou 2023 PMID: 36495297, patient 5); microcephaly (Wang 2023 PMID: 37229200, patient 18). No definitive evidence that this variant is pathogenic. As all prenatal reports are of the same variant and from the same centre, concern that these may be incidental findings due to variant frequency in the local population (variant absent from gnomAD).
Sources: Literature
Fetal anomalies v4.3 ARV1 Sarah Graham gene: ARV1 was added
gene: ARV1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ARV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARV1 were set to PMID: 36307859; 34296759
Review for gene: ARV1 was set to AMBER
Added comment: Biallelic loss-of-function variants associated with autosomal recessive developmental and epileptic encephalopathy-38 (DEE38). Biallelic variants reported prenatally in 3 families (4 fetuses) in association with abnormal scan findings, particularly renal abnormalities. Renal abnormalities are not a common postnatal finding in this disorder, so causal relationship to scan findings is unclear.

Salian 2021 PMID: 34296759, patient 3 - compound heterozygous frameshift and missense variants, p.(Pro174Alafs*14) and p.(Cys34Tyr), with prenatal hydronephrosis, postnatally profound ID, seizures, genitourinary abnormalities. Salian 2021 PMID: 34296759, Patients 5/6 (successive pregnancies of consanguineous parents) - homozygous c.674-1G>A; patient 5 termination at week 22 due to megaureter, small femora and humeri and narrow thorax; patient 6 NT 6.3 mm at week 14, bilaterally dilated renal pelvis at week 16+1. Fu 2022 PMID: 36307859 - compound het frameshift variants, p.(Glu137Asnfs*13) and p.(Pro174Alafs*14), reported in a fetus with dilation of lateral ventricles and polyhydramnios.
Sources: Literature
Fetal anomalies v4.3 KCNK9 Sarah Graham gene: KCNK9 was added
gene: KCNK9 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: KCNK9 were set to PMID: 36307859
Review for gene: KCNK9 was set to GREEN
Added comment: The recurrent p.(Gly236Arg) variant is well established as the cause of KCNK9 Imprinting Syndrome / Birk-Barel Syndrome (OMIM #612292) when present on the maternal allele. This variant has been reported as a de novo finding on exome sequencing in a fetus with scan findings consistent with this disorder (micrognathia, cleft palate). PMID: 36307859
Sources: Literature
Fetal anomalies v4.3 TLL1 Arina Puzriakova Classified gene: TLL1 as Green List (high evidence)
Fetal anomalies v4.3 TLL1 Arina Puzriakova Added comment: Comment on list classification: TLL1 was re-reviewed by the GMS specialist team and it was decided that this gene should be demoted from Green to Amber, in line with the review by Stephanie Allen (Birmingham Women's Hospital).
Fetal anomalies v4.3 TLL1 Arina Puzriakova Gene: tll1 has been classified as Green List (High Evidence).
Fetal anomalies v4.2 TLL1 Arina Puzriakova Tag Q2_24_demote_amber tag was added to gene: TLL1.
Tag Q2_24_NHS_review tag was added to gene: TLL1.
Fetal anomalies v4.2 CELSR1 Arina Puzriakova Classified gene: CELSR1 as Green List (high evidence)
Fetal anomalies v4.2 CELSR1 Arina Puzriakova Added comment: Comment on list classification: CELSR1 was re-reviewed by the GMS specialist team and it was decided that this gene should be demoted from Green to Amber, in line with the review by Stephanie Allen (Birmingham Women's Hospital).
Fetal anomalies v4.2 CELSR1 Arina Puzriakova Gene: celsr1 has been classified as Green List (High Evidence).
Fetal anomalies v4.1 CELSR1 Arina Puzriakova Tag Q2_24_demote_amber tag was added to gene: CELSR1.
Tag Q2_24_NHS_review tag was added to gene: CELSR1.
Fetal anomalies v4.1 MDFIC Dmitrijs Rots gene: MDFIC was added
gene: MDFIC was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDFIC were set to PMID: 35235341
Phenotypes for gene: MDFIC were set to conducting lymphatic anomaly with lymphedema
Review for gene: MDFIC was set to GREEN
Added comment: Six independet families with specific phenotype and AR inheritance + mouse model. Enough for green rating.
Sources: Literature
Fetal anomalies v4.1 CELSR1 Stephanie Allen changed review comment from: This gene and phenotype were re-reviewed by the fetal anomaly panel review group in May 2024. Suggest downgrade to amber:
Clingen presentation - 3 phenotypes linked NTD as a susceptibility locus only, epilepsy no obvious prenatal link. Lymphatic malformations good evidence for truncating variants only. Variable expressivity/penetrance in males. Females earliest onset reported form birth but no evidence of hydrops. Usual onset adolescents. Not enough evidence, suggest Amber to watch for link to hydrops.; to: This gene and phenotype were re-reviewed by the fetal anomaly panel review group in May 2024. Suggest downgrade to amber:
Clingen presentation - 3 phenotypes linked NTD as a susceptibility locus only, epilepsy no obvious prenatal link. Lymphatic malformations good evidence for truncating variants only. Variable expressivity/penetrance in males. Females earliest onset reported form birth but no evidence of hydrops. Usual onset adolescents. Not enough evidence, suggest Amber to watch for link to hydrops.
Fetal anomalies v4.1 TLL1 Stephanie Allen reviewed gene: TLL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v4.1 CELSR1 Stephanie Allen reviewed gene: CELSR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2024-05-01
Fetal anomalies v4.0 Arina Puzriakova promoted panel to version 4.0
Fetal anomalies v3.169 CENPF Arina Puzriakova Phenotypes for gene: CENPF were changed from Stromme syndrome, 243605 to Stromme syndrome, OMIM:243605
Fetal anomalies v3.168 IGF1 Arina Puzriakova Phenotypes for gene: IGF1 were changed from INSULIN-LIKE GROWTH FACTOR I DEFICIENCY to Insulin-like growth factor I deficiency, OMIM:608747
Fetal anomalies v3.167 LIG4 Arina Puzriakova Phenotypes for gene: LIG4 were changed from SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION; LIG4 SYNDROME to LIG4 syndrome, OMIM:606593
Fetal anomalies v3.166 ORC1 Arina Puzriakova Phenotypes for gene: ORC1 were changed from MEIER-GORLIN SYNDROME 1 to Meier-Gorlin syndrome 1, OMIM:224690
Fetal anomalies v3.165 ORC4 Arina Puzriakova Phenotypes for gene: ORC4 were changed from MEIER-GORLIN SYNDROME 2 to Meier-Gorlin syndrome 2, OMIM:613800
Fetal anomalies v3.164 ORC6 Arina Puzriakova Phenotypes for gene: ORC6 were changed from MEIER-GORLIN SYNDROME 3 to Meier-Gorlin syndrome 3, OMIM:613803
Fetal anomalies v3.163 PCNT Arina Puzriakova Phenotypes for gene: PCNT were changed from MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
Fetal anomalies v3.162 RNU4ATAC Arina Puzriakova Phenotypes for gene: RNU4ATAC were changed from MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I to Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
Fetal anomalies v3.161 TRAIP Arina Puzriakova Phenotypes for gene: TRAIP were changed from Seckel syndrome 9 to Seckel syndrome 9, OMIM:616777
Fetal anomalies v3.160 XRCC4 Arina Puzriakova Phenotypes for gene: XRCC4 were changed from PRIMORDIAL DWARFISM to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541
Fetal anomalies v3.159 CDC6 Arina Puzriakova Phenotypes for gene: CDC6 were changed from MEIER-GORLIN SYNDROME 5 to Meier-Gorlin syndrome 5, OMIM:613805
Fetal anomalies v3.158 CDT1 Arina Puzriakova Phenotypes for gene: CDT1 were changed from MEIER-GORLIN SYNDROME 4 to Meier-Gorlin syndrome 4, OMIM:613804
Fetal anomalies v3.157 USP14 Zornitza Stark gene: USP14 was added
gene: USP14 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP14 were set to 38469793
Phenotypes for gene: USP14 were set to Syndromic disease MONDO:0002254, USP14-related
Review for gene: USP14 was set to AMBER
Added comment: PMID 38469793: biallelic USP14 variants in four individuals from three unrelated families: one fetus, a newborn with a syndromic NDD, and two siblings affected by a progressive neurological disease. Specifically, the two siblings from the latter family carried two compound heterozygous variants c.8T>C p.(Leu3Pro) and c.988C>T p.(Arg330*), while the fetus had a homozygous frameshift c.899_902del p.(Lys300Serfs*24) variant and the newborn patient harbored a homozygous frameshift c.233_236del p.(Leu78Glnfs*11) variant. The fetus and the newborn had extensive brain malformations.
Sources: Literature
Fetal anomalies v3.157 PLD1 Arina Puzriakova changed review comment from: Comment on list classification: This Green gene was signed off in Nov 2022 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.; to: Comment on list classification: This Green gene was signed off in Mar 2023 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.
Fetal anomalies v3.157 PLD1 Arina Puzriakova Classified gene: PLD1 as Green List (high evidence)
Fetal anomalies v3.157 PLD1 Arina Puzriakova Added comment: Comment on list classification: This Green gene was signed off in Nov 2022 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.
Fetal anomalies v3.157 PLD1 Arina Puzriakova Gene: pld1 has been classified as Green List (High Evidence).
Fetal anomalies v3.156 PLD1 Arina Puzriakova Tag Q2_24_demote_red tag was added to gene: PLD1.
Tag Q2_24_expert_review tag was added to gene: PLD1.
Fetal anomalies v3.156 PLD1 Arina Puzriakova commented on gene: PLD1: Copied review from Paediatric or syndromic cardiomyopathy (749) v3.43 panel:

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

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

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

Other papers (e.g. PMIDs: 33142350, 35380090, 36923242, 37770978) reporting a link between PLD1 genotypes and early onset cardiac disease (not cardiomyopathy) have been published. However, again, I do not think there is sufficient data in the articles to allow any of the variants detected to be confidently classified as anything but VUS according to current variant classification guidelines."
Created: 31 Jan 2024, 12:04 p.m. | Last Modified: 31 Jan 2024, 12:17 p.m
Fetal anomalies v3.156 GLI3 Arina Puzriakova Phenotypes for gene: GLI3 were changed from PALLISTER-HALL SYNDROME; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; PREAXIAL POLYDACTYLY TYPE IV; POSTAXIAL POLYDACTYLY TYPE A to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510; Polydactyly, postaxial, types A1 and B, OMIM:174200; Polydactyly, preaxial, type IV, OMIM:174700
Fetal anomalies v3.155 GRM1 Arina Puzriakova Classified gene: GRM1 as Red List (low evidence)
Fetal anomalies v3.155 GRM1 Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Zornitza Stark. Could not find any evidence of prenatal phenotypes in patients with GRM1 variants.
Fetal anomalies v3.155 GRM1 Arina Puzriakova Gene: grm1 has been classified as Red List (Low Evidence).
Fetal anomalies v3.154 ADA Arina Puzriakova Phenotypes for gene: ADA were changed from Combined B and T cell defect; Adenosine deaminase deficiency (Disorders of purine metabolism); SCID; Infantile enterocolitis & monogenic inflammatory bowel disease to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700
Fetal anomalies v3.153 ADA Arina Puzriakova Phenotypes for gene: ADA were changed from ADENOSINE DEAMINASE DEFICIENCY to Combined B and T cell defect; Adenosine deaminase deficiency (Disorders of purine metabolism); SCID; Infantile enterocolitis & monogenic inflammatory bowel disease
Fetal anomalies v3.152 NRXN2 Sarah Leigh Classified gene: NRXN2 as Red List (low evidence)
Fetal anomalies v3.152 NRXN2 Sarah Leigh Added comment: Comment on list classification: There insufficient evidence between NRXN2 variants and autism for this gene to be rated amber.
Fetal anomalies v3.152 NRXN2 Sarah Leigh Gene: nrxn2 has been classified as Red List (Low Evidence).
Fetal anomalies v3.151 RRAS Sarah Leigh Tag Q2_24_promote_green tag was added to gene: RRAS.
Fetal anomalies v3.151 RRAS Sarah Leigh edited their review of gene: RRAS: Added comment: RRAS variants have not associated with a phenotype in OMIM or MONDO, but Gen2Phen lists a strong association between RRAS variants and RRAS-related atypical Noonan syndrome. Three germline RRAS variants have been reported (PMID: 24705357; 32815881; 34935735), associated with a RASopathy, which includes myelodysplastic syndrome and contributes to leukaemogenesis.; Changed rating: GREEN; Changed publications to: 24705357, 32815881, 34935735
Fetal anomalies v3.151 RRAS Sarah Leigh Added comment: Comment on phenotypes: Phenotype from Gen2Phen
Fetal anomalies v3.151 RRAS Sarah Leigh Phenotypes for gene: RRAS were changed from ATYPICAL NOONAN SYNDROME to RRAS-related atypical Noonan syndrome
Fetal anomalies v3.150 RRAS Sarah Leigh Publications for gene: RRAS were set to
Fetal anomalies v3.149 NRXN2 Sarah Leigh Publications for gene: NRXN2 were set to
Fetal anomalies v3.147 FZD5 Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Microphthalmia/coloboma 11, OMIM:620731)
Fetal anomalies v3.147 FZD5 Arina Puzriakova Phenotypes for gene: FZD5 were changed from Autosomal Dominant Coloboma to Microphthalmia/coloboma 11, OMIM:620731
Fetal anomalies v3.146 RECQL4 Arina Puzriakova Phenotypes for gene: RECQL4 were changed from RAPADILINO SYNDROME; ROTHMUND-THOMSON SYNDROME; BALLER-GEROLD SYNDROME to Baller-Gerold syndrome, OMIM:218600; RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400
Fetal anomalies v3.145 STAMBP Arina Puzriakova Phenotypes for gene: STAMBP were changed from MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME to Microcephaly-capillary malformation syndrome, OMIM:614261
Fetal anomalies v3.144 PIK3R2 Arina Puzriakova Phenotypes for gene: PIK3R2 were changed from MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Fetal anomalies v3.143 ROBO1 Arina Puzriakova Publications for gene: ROBO1 were set to 28592524; 28485101; 30712880; 29194579; 35227688
Fetal anomalies v3.143 ROBO1 Arina Puzriakova Publications for gene: ROBO1 were set to 28592524; 28485101; 30712880
Fetal anomalies v3.142 ROBO1 Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'monoallelic' to 'both mono- and biallelic' at the next GMS panel update.

Biallelic variants in the ROBO1 gene are associated with neurooculorenal syndrome (OMIM:620305). Clinical manifestations are generally highly variable and involve several organ systems. However, some cases do present in utero with renal agenesis and structural brain abnormalities (PMID: 29194579; 35227688) indicating that the phenotype is relevant to this panel.
Fetal anomalies v3.142 ROBO1 Arina Puzriakova Mode of inheritance for gene: ROBO1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.141 ROBO1 Arina Puzriakova Phenotypes for gene: ROBO1 were changed from tetralogy of Fallot and septal defects to Tetralogy of Fallot and septal defects; Neurooculorenal syndrome, OMIM:620305
Fetal anomalies v3.140 ROBO1 Arina Puzriakova Tag Q1_24_MOI tag was added to gene: ROBO1.
Fetal anomalies v3.140 SPATA5 Arina Puzriakova Phenotypes for gene: SPATA5 were changed from EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577
Fetal anomalies v3.139 CCBE1 Arina Puzriakova Phenotypes for gene: CCBE1 were changed from HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Fetal anomalies v3.138 SMARCAL1 Arina Puzriakova Phenotypes for gene: SMARCAL1 were changed from SCHIMKE IMMUNOOSSEOUS DYSPLASIA to Schimke immunoosseous dysplasia, OMIM:242900
Fetal anomalies v3.137 NHEJ1 Arina Puzriakova Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291 to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291
Fetal anomalies v3.136 EFNB1 Arina Puzriakova Phenotypes for gene: EFNB1 were changed from CRANIOFRONTONASAL SYNDROME to Craniofrontonasal dysplasia, OMIM:304110
Fetal anomalies v3.135 MSTO1 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal.
Fetal anomalies v3.135 MSTO1 Sarah Leigh Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v3.134 MSTO1 Sarah Leigh Tag Q1_24_MOI tag was added to gene: MSTO1.
Fetal anomalies v3.134 MSTO1 Sarah Leigh Publications for gene: MSTO1 were set to 29339779; 28544275; 31604776; 31130378; 28554942
Fetal anomalies v3.133 MSTO1 Sarah Leigh reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.133 TUSC3 Arina Puzriakova Phenotypes for gene: TUSC3 were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 to Intellectual developmental disorder, autosomal recessive 7, OMIM:611093
Fetal anomalies v3.132 CC2D1A Arina Puzriakova Phenotypes for gene: CC2D1A were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 to Intellectual developmental disorder, autosomal recessive 3, OMIM:608443
Fetal anomalies v3.131 ASPM Arina Puzriakova Phenotypes for gene: ASPM were changed from PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY to Microcephaly 5, primary, autosomal recessive, OMIM:608716
Fetal anomalies v3.130 PKLR Arina Puzriakova Phenotypes for gene: PKLR were changed from Pyruvate kinase deficiency 266200 to Pyruvate kinase deficiency, OMIM:266200
Fetal anomalies v3.129 MYLK Arina Puzriakova Phenotypes for gene: MYLK were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome; MMIH to Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210
Fetal anomalies v3.128 PRX Arina Puzriakova Phenotypes for gene: PRX were changed from Dejerine-Sottas disease, OMIM; 145900 to Dejerine-Sottas disease, OMIM:145900
Fetal anomalies v3.127 PRX Arina Puzriakova Phenotypes for gene: PRX were changed from Charcot-Marie-Tooth disease, type 4F 614895; Dejerine-Sottas disease 145900 to Dejerine-Sottas disease, OMIM; 145900
Fetal anomalies v3.126 PRX Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'both mono- and biallelic' to 'biallelic' as only recessive cases have been reported in literature.

OMIM states AD/AR inheritance for Dejerine-Sottas disease as this can be caused by both heterozygous and homozygous variants in other genes (e.g. PMP22, EGR2) but seemingly not in PRX.
Fetal anomalies v3.126 PRX Arina Puzriakova Mode of inheritance for gene: PRX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.125 CNBP Sarah Leigh Tag currently-ngs-unreportable was removed from gene: CNBP.
Fetal anomalies v3.125 CNBP_CCTG Sarah Leigh Classified STR: CNBP_CCTG as Amber List (moderate evidence)
Fetal anomalies v3.125 CNBP_CCTG Sarah Leigh Str: cnbp_cctg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.124 CNBP_CCTG Sarah Leigh Tag NGS Not Validated was removed from STR: CNBP_CCTG.
Tag Q1_24_promote_green tag was added to STR: CNBP_CCTG.
Fetal anomalies v3.124 CNBP_CCTG Sarah Leigh Deleted their comment
Fetal anomalies v3.124 CNBP_CCTG Sarah Leigh commented on STR: CNBP_CCTG: As STR: CNBP_CCTG has been reviewed and confirmed by the NHS Genomic Medicine Service, it can be rated as Green on this panel.
Fetal anomalies v3.124 CNBP_CCTG Sarah Leigh reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v3.124 TRIT1 Eleanor Williams Phenotypes for gene: TRIT1 were changed from Combined oxidative phosphorylation deficiency 35, OMIM:617873 to Combined oxidative phosphorylation deficiency 35, OMIM:617873; combined oxidative phosphorylation deficiency 35, MONDO:0054742
Fetal anomalies v3.123 SLC12A6 Arina Puzriakova Phenotypes for gene: SLC12A6 were changed from AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY to Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068; Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000
Fetal anomalies v3.122 MED12 Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: MED12.
Tag Q3_21_expert_review was removed from gene: MED12.
Fetal anomalies v3.122 KIDINS220 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: KIDINS220.
Tag Q2_21_expert_review was removed from gene: KIDINS220.
Tag Q2_21_MOI was removed from gene: KIDINS220.
Fetal anomalies v3.122 LIFR Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: LIFR.
Tag Q2_22_expert_review was removed from gene: LIFR.
Fetal anomalies v3.122 KMT2B Arina Puzriakova Phenotypes for gene: KMT2B were changed from Complex early-onset dystonia to Dystonia 28, childhood-onset, OMIM:617284; Complex early-onset dystonia
Fetal anomalies v3.121 NSMF Arina Puzriakova Mode of pathogenicity for gene: NSMF was changed from to Other
Fetal anomalies v3.120 NSMF Arina Puzriakova Phenotypes for gene: NSMF were changed from Hypogonadotropic hypogonadism 9 with or without anosmia 614838 to Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838
Fetal anomalies v3.119 SEC23B Arina Puzriakova Phenotypes for gene: SEC23B were changed from ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II to Dyserythropoietic anemia, congenital, type II, OMIM:224100
Fetal anomalies v3.118 ESAM Achchuthan Shanmugasundram Phenotypes for gene: ESAM were changed from intracranial hemorrhage; cerebral anomalies to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
Fetal anomalies v3.117 ESAM Achchuthan Shanmugasundram Publications for gene: ESAM were set to PMID: 36996813
Fetal anomalies v3.116 ESAM Achchuthan Shanmugasundram Classified gene: ESAM as Amber List (moderate evidence)
Fetal anomalies v3.116 ESAM Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Julia Baptista, PMID:36996813 reported foetal intracranial hemorrhage in four foetuses from three unrelated families. Hence, there is sufficient evidence for this gene to be promoted to green rating in this panel in the next GMS review.
Fetal anomalies v3.116 ESAM Achchuthan Shanmugasundram Gene: esam has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.115 ESAM Achchuthan Shanmugasundram Tag Q4_23_expert_review tag was added to gene: ESAM.
Fetal anomalies v3.115 ESAM Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ESAM.
Fetal anomalies v3.115 ESAM Achchuthan Shanmugasundram reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 36996813; Phenotypes: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.115 FAM111A Sarah Leigh Added comment: Comment on mode of inheritance: PMID: 34382758 reports an autosomal recessive case of Kenny-Caffey Syndrome Type 2. The proband had inherited FAM111A variants from his healthy parents (paternal heterozygous missense
variant c.976T>A (p.L326I) and maternal heterozygous
in-frame deletion variant c.1714_1716del (p.Ile572del,
rs779963813)).
Fetal anomalies v3.115 FAM111A Sarah Leigh Mode of inheritance for gene: FAM111A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.114 FAM111A Sarah Leigh Publications for gene: FAM111A were set to
Fetal anomalies v3.111 C1QBP Eleanor Williams commented on gene: C1QBP
Fetal anomalies v3.111 C1QBP Eleanor Williams Tag Q2_23_promote_green was removed from gene: C1QBP.
Tag Q2_23_NHS_review was removed from gene: C1QBP.
Fetal anomalies v3.111 CDX2 Eleanor Williams commented on gene: CDX2: Removed the Q2_23_promote_green tag as has now been promoted to green.
Fetal anomalies v3.111 CDX2 Eleanor Williams Tag Q2_23_promote_green was removed from gene: CDX2.
Fetal anomalies v3.111 TRIT1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TRIT1.
Fetal anomalies v3.111 NDUFAF8 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: NDUFAF8.
Fetal anomalies v3.111 SPATA5 Achchuthan Shanmugasundram commented on gene: SPATA5
Fetal anomalies v3.111 ROBO1 Arina Puzriakova Tag gene-checked was removed from gene: ROBO1.
Fetal anomalies v3.111 CDX2 Eleanor Williams Tag gene-checked tag was added to gene: CDX2.
Fetal anomalies v3.111 CDX2 Eleanor Williams commented on gene: CDX2
Fetal anomalies v3.111 ECHS1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: ECHS1.
Tag Q2_23_NHS_review was removed from gene: ECHS1.
Fetal anomalies v3.111 GATB Sarah Leigh Tag Q2_23_promote_green was removed from gene: GATB.
Tag Q2_23_NHS_review was removed from gene: GATB.
Fetal anomalies v3.111 IBA57 Sarah Leigh Tag Q2_23_promote_green was removed from gene: IBA57.
Tag Q2_23_NHS_review was removed from gene: IBA57.
Fetal anomalies v3.111 KIF21A Sarah Leigh Tag Q2_23_promote_green was removed from gene: KIF21A.
Tag Q2_23_NHS_review was removed from gene: KIF21A.
Fetal anomalies v3.111 MECOM Sarah Leigh Tag Q2_23_promote_green was removed from gene: MECOM.
Tag Q2_23_NHS_review was removed from gene: MECOM.
Fetal anomalies v3.111 MTFMT Sarah Leigh Tag Q2_23_promote_green was removed from gene: MTFMT.
Tag Q2_23_NHS_review was removed from gene: MTFMT.
Fetal anomalies v3.111 MYL9 Sarah Leigh Tag Q2_23_promote_green was removed from gene: MYL9.
Fetal anomalies v3.111 NDUFA6 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFA6.
Tag Q2_23_NHS_review was removed from gene: NDUFA6.
Fetal anomalies v3.111 NDUFAF8 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFAF8.
Tag Q2_23_NHS_review was removed from gene: NDUFAF8.
Fetal anomalies v3.111 NDUFB10 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFB10.
Tag Q2_23_NHS_review was removed from gene: NDUFB10.
Fetal anomalies v3.111 NDUFB3 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFB3.
Tag Q2_23_NHS_review was removed from gene: NDUFB3.
Fetal anomalies v3.111 NDUFS1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFS1.
Tag Q2_23_NHS_review was removed from gene: NDUFS1.
Fetal anomalies v3.111 PC Sarah Leigh Tag Q2_23_promote_green was removed from gene: PC.
Tag Q2_23_NHS_review was removed from gene: PC.
Fetal anomalies v3.111 PDHB Sarah Leigh Tag Q2_23_promote_green was removed from gene: PDHB.
Tag Q2_23_NHS_review was removed from gene: PDHB.
Fetal anomalies v3.111 PDHX Sarah Leigh Tag Q2_23_promote_green was removed from gene: PDHX.
Tag Q2_23_NHS_review was removed from gene: PDHX.
Fetal anomalies v3.111 PET100 Sarah Leigh Tag Q2_23_promote_green was removed from gene: PET100.
Tag Q2_23_NHS_review was removed from gene: PET100.
Fetal anomalies v3.111 PLXND1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: PLXND1.
Fetal anomalies v3.111 PNPLA8 Sarah Leigh Tag Q2_23_promote_green was removed from gene: PNPLA8.
Tag Q2_23_NHS_review was removed from gene: PNPLA8.
Fetal anomalies v3.111 PRKACA Sarah Leigh Tag Q2_23_promote_green was removed from gene: PRKACA.
Fetal anomalies v3.111 PRKACB Sarah Leigh Tag Q2_23_promote_green was removed from gene: PRKACB.
Fetal anomalies v3.111 QRSL1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: QRSL1.
Tag Q2_23_NHS_review was removed from gene: QRSL1.
Fetal anomalies v3.111 RAB11A Sarah Leigh Tag Q2_23_promote_green was removed from gene: RAB11A.
Tag Q2_23_NHS_review was removed from gene: RAB11A.
Fetal anomalies v3.111 RMND1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: RMND1.
Tag Q2_23_NHS_review was removed from gene: RMND1.
Fetal anomalies v3.111 SCUBE3 Sarah Leigh Tag Q2_23_promote_green was removed from gene: SCUBE3.
Tag Q2_23_NHS_review was removed from gene: SCUBE3.
Fetal anomalies v3.111 SLC25A46 Sarah Leigh Tag Q2_23_promote_green was removed from gene: SLC25A46.
Tag Q2_23_NHS_review was removed from gene: SLC25A46.
Fetal anomalies v3.111 TK2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: TK2.
Tag Q2_23_NHS_review was removed from gene: TK2.
Fetal anomalies v3.111 UQCRFS1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: UQCRFS1.
Tag Q2_23_NHS_review was removed from gene: UQCRFS1.
Fetal anomalies v3.111 WLS Sarah Leigh Tag Q2_23_promote_green was removed from gene: WLS.
Fetal anomalies v3.111 ZMYM2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: ZMYM2.
Tag Q2_23_NHS_review was removed from gene: ZMYM2.
Fetal anomalies v3.111 EARS2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: EARS2.
Tag Q2_23_NHS_review was removed from gene: EARS2.
Fetal anomalies v3.111 DNA2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: DNA2.
Tag Q2_23_NHS_review was removed from gene: DNA2.
Fetal anomalies v3.111 DARS2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: DARS2.
Tag Q2_23_NHS_review was removed from gene: DARS2.
Fetal anomalies v3.111 COQ7 Sarah Leigh Tag Q2_23_promote_green was removed from gene: COQ7.
Tag Q2_23_NHS_review was removed from gene: COQ7.
Fetal anomalies v3.111 CLCN4 Sarah Leigh Tag Q2_23_promote_green was removed from gene: CLCN4.
Tag Q2_23_NHS_review was removed from gene: CLCN4.
Fetal anomalies v3.111 CLCN4 Sarah Leigh changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Fetal anomalies v3.111 C19orf70 Sarah Leigh Tag Q2_23_promote_green was removed from gene: C19orf70.
Tag Q2_23_NHS_review was removed from gene: C19orf70.
Fetal anomalies v3.111 ATP5O Sarah Leigh Tag Q2_23_promote_green was removed from gene: ATP5O.
Tag Q2_23_NHS_review was removed from gene: ATP5O.
Fetal anomalies v3.111 AGTR1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: AGTR1.
Tag Q2_23_NHS_review was removed from gene: AGTR1.
Fetal anomalies v3.111 AARS2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: AARS2.
Tag Q2_23_NHS_review was removed from gene: AARS2.
Fetal anomalies v3.111 ZMYM2 Sarah Leigh reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 WLS Sarah Leigh reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 UQCRFS1 Sarah Leigh reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 TK2 Sarah Leigh reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 SLC25A46 Sarah Leigh reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 SCUBE3 Sarah Leigh edited their review of gene: SCUBE3: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 RMND1 Sarah Leigh reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 RAB11A Sarah Leigh reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 QRSL1 Sarah Leigh reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PRKACB Sarah Leigh reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 PRKACA Sarah Leigh reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v3.111 PNPLA8 Sarah Leigh reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PLXND1 Sarah Leigh reviewed gene: PLXND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PET100 Sarah Leigh reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PDHX Sarah Leigh reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PDHB Sarah Leigh reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PC Sarah Leigh reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFS1 Sarah Leigh reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFB3 Sarah Leigh reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFB10 Sarah Leigh reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFAF8 Sarah Leigh reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFA6 Sarah Leigh reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 MYL9 Sarah Leigh reviewed gene: MYL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 MTFMT Sarah Leigh reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 MECOM Sarah Leigh reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 KIF21A Sarah Leigh reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 KDM5C Sarah Leigh reviewed gene: KDM5C: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.111 IBA57 Sarah Leigh reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 GATB Sarah Leigh reviewed gene: GATB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 ECHS1 Sarah Leigh reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 EARS2 Sarah Leigh reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 DNA2 Sarah Leigh reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 DARS2 Sarah Leigh reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 COQ7 Sarah Leigh reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 CLCN4 Sarah Leigh reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.111 CDX2 Sarah Leigh reviewed gene: CDX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v3.111 C1QBP Sarah Leigh reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 C19orf70 Sarah Leigh reviewed gene: C19orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 ATP5O Sarah Leigh reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 AGTR1 Sarah Leigh reviewed gene: AGTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 AARS2 Sarah Leigh reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.110 KDM5C Sarah Leigh Tag Q4_22_MOI was removed from gene: KDM5C.
Fetal anomalies v3.110 ZMYM2 Sarah Leigh Source Expert Review Green was added to ZMYM2.
Source NHS GMS was added to ZMYM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 WLS Sarah Leigh Source Expert Review Green was added to WLS.
Source NHS GMS was added to WLS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 UQCRFS1 Sarah Leigh Source Expert Review Green was added to UQCRFS1.
Source NHS GMS was added to UQCRFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 TK2 Sarah Leigh Source Expert Review Green was added to TK2.
Source NHS GMS was added to TK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 SLC25A46 Sarah Leigh Source Expert Review Green was added to SLC25A46.
Source NHS GMS was added to SLC25A46.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 SCUBE3 Sarah Leigh Source Expert Review Green was added to SCUBE3.
Source NHS GMS was added to SCUBE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 RMND1 Sarah Leigh Source Expert Review Green was added to RMND1.
Source NHS GMS was added to RMND1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 RAB11A Sarah Leigh Source Expert Review Green was added to RAB11A.
Source NHS GMS was added to RAB11A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 QRSL1 Sarah Leigh Source Expert Review Green was added to QRSL1.
Source NHS GMS was added to QRSL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PRKACB Sarah Leigh Source Expert Review Green was added to PRKACB.
Source NHS GMS was added to PRKACB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PRKACA Sarah Leigh Source Expert Review Green was added to PRKACA.
Source NHS GMS was added to PRKACA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PNPLA8 Sarah Leigh Source Expert Review Green was added to PNPLA8.
Source NHS GMS was added to PNPLA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PLXND1 Sarah Leigh Source Expert Review Green was added to PLXND1.
Source NHS GMS was added to PLXND1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PET100 Sarah Leigh Source Expert Review Green was added to PET100.
Source NHS GMS was added to PET100.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PDHX Sarah Leigh Source Expert Review Green was added to PDHX.
Source NHS GMS was added to PDHX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PDHB Sarah Leigh Source Expert Review Green was added to PDHB.
Source NHS GMS was added to PDHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PC Sarah Leigh Source Expert Review Green was added to PC.
Source NHS GMS was added to PC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFS1 Sarah Leigh Source Expert Review Green was added to NDUFS1.
Source NHS GMS was added to NDUFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFB3 Sarah Leigh Source Expert Review Green was added to NDUFB3.
Source NHS GMS was added to NDUFB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFB10 Sarah Leigh Source Expert Review Green was added to NDUFB10.
Source NHS GMS was added to NDUFB10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFAF8 Sarah Leigh Source Expert Review Green was added to NDUFAF8.
Source NHS GMS was added to NDUFAF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFA6 Sarah Leigh Source Expert Review Green was added to NDUFA6.
Source NHS GMS was added to NDUFA6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 MYL9 Sarah Leigh Source Expert Review Green was added to MYL9.
Source NHS GMS was added to MYL9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 MTFMT Sarah Leigh Source Expert Review Green was added to MTFMT.
Source NHS GMS was added to MTFMT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 MECOM Sarah Leigh Source Expert Review Green was added to MECOM.
Source NHS GMS was added to MECOM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 KIF21A Sarah Leigh Source Expert Review Green was added to KIF21A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 KDM5C Sarah Leigh Source NHS GMS was added to KDM5C.
Mode of inheritance for gene KDM5C was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.110 IBA57 Sarah Leigh Source Expert Review Green was added to IBA57.
Source NHS GMS was added to IBA57.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 GATB Sarah Leigh Source Expert Review Green was added to GATB.
Source NHS GMS was added to GATB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 ECHS1 Sarah Leigh Source Expert Review Green was added to ECHS1.
Source NHS GMS was added to ECHS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 EARS2 Sarah Leigh Source Expert Review Green was added to EARS2.
Source NHS GMS was added to EARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 DNA2 Sarah Leigh Source Expert Review Green was added to DNA2.
Source NHS GMS was added to DNA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 DARS2 Sarah Leigh Source Expert Review Green was added to DARS2.
Source NHS GMS was added to DARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 COQ7 Sarah Leigh Source Expert Review Green was added to COQ7.
Source NHS GMS was added to COQ7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 CLCN4 Sarah Leigh Source Expert Review Green was added to CLCN4.
Source NHS GMS was added to CLCN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 CDX2 Sarah Leigh Source Expert Review Green was added to CDX2.
Source NHS GMS was added to CDX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 C1QBP Sarah Leigh Source Expert Review Green was added to C1QBP.
Source NHS GMS was added to C1QBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 C19orf70 Sarah Leigh Source Expert Review Green was added to C19orf70.
Source NHS GMS was added to C19orf70.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 ATP5O Sarah Leigh Source Expert Review Green was added to ATP5O.
Source NHS GMS was added to ATP5O.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 AGTR1 Sarah Leigh Source Expert Review Green was added to AGTR1.
Source NHS GMS was added to AGTR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 AARS2 Sarah Leigh Source Expert Review Green was added to AARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.109 NRXN2 Dmitrijs Rots reviewed gene: NRXN2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36923655; Phenotypes: ASD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v3.109 SPATA5 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
Fetal anomalies v3.109 ESAM Julia Baptista gene: ESAM was added
gene: ESAM was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESAM were set to PMID: 36996813
Phenotypes for gene: ESAM were set to intracranial hemorrhage; cerebral anomalies
Review for gene: ESAM was set to GREEN
Added comment: Four fetuses from three unrelated families (different LOF biallelic variants) with fetal intracranial hemorrhage. Fetal brain tissue from one of the affected individuals at 31 weeks' gestational age showed lack of ESAM staining in the capillary endothelial cells, thus confirming loss of ESAM. Another individual had an abnormal prenatal ultrasound and the pregnancy was terminated at 32 weeks' gestation, but no DNA was available to test for the familial variant.
Neurodevelopmental disorder with cerebral calcifications, hydrocephalus, focal white matter lesions, retina anomalies and dysmorphic features.
Sources: Literature
Fetal anomalies v3.109 TP63 Arina Puzriakova Phenotypes for gene: TP63 were changed from ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; SPLIT-HAND/FOOT MALFORMATION TYPE 4; ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; LIMB-MAMMARY SYNDROME; NON-SYNDROMIC OROFACIAL CLEFT TYPE 8; ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Orofacial cleft 8, OMIM:618149; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289
Fetal anomalies v3.108 UQCRB Arina Puzriakova Phenotypes for gene: UQCRB were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Fetal anomalies v3.107 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from HOLOPROSENCEPHALY-7; BASAL CELL NEVUS SYNDROME to Holoprosencephaly 7, OMIM:610828
Fetal anomalies v3.106 SPTAN1 Sarah Leigh Phenotypes for gene: SPTAN1 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277
Fetal anomalies v3.105 SLC12A1 Sarah Leigh commented on gene: SLC12A1
Fetal anomalies v3.105 SLC12A1 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A1.
Fetal anomalies v3.105 SLC12A1 Sarah Leigh Phenotypes for gene: SLC12A1 were changed from Bartter syndrome, type 1 601678 to Bartter syndrome, type 1, OMIM:601678; Bartter disease type 1, MONDO:0100344
Fetal anomalies v3.104 SLC12A1 Sarah Leigh Publications for gene: SLC12A1 were set to
Fetal anomalies v3.103 CLCNKB Sarah Leigh Tag monogenic-polygenic tag was added to gene: CLCNKB.
Fetal anomalies v3.103 CLCNKB Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Fetal anomalies v3.103 CLCNKB Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.102 AKT3 Arina Puzriakova Phenotypes for gene: AKT3 were changed from HEMIMEGALENCEPHALY AKT3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Fetal anomalies v3.101 CLCNKB Sarah Leigh Phenotypes for gene: CLCNKB were changed from BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
Fetal anomalies v3.100 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.99 SLC22A5 Sarah Leigh changed review comment from: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Fetal anomalies v3.99 RPS6KA3 Arina Puzriakova Phenotypes for gene: RPS6KA3 were changed from COFFIN-LOWRY SYNDROME to Coffin-Lowry syndrome, OMIM:303600
Fetal anomalies v3.98 ATP5O Sarah Leigh Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Fetal anomalies v3.97 SLC25A24 Sarah Leigh Publications for gene: SLC25A24 were set to
Fetal anomalies v3.96 SLC25A24 Sarah Leigh Added comment: Comment on phenotypes: Gorlin-Chaudhry-Moss syndrome (GCMS);Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Fetal anomalies v3.96 SLC25A24 Sarah Leigh Phenotypes for gene: SLC25A24 were changed from Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853
Fetal anomalies v3.95 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to
Fetal anomalies v3.94 SLC22A5 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).
Fetal anomalies v3.94 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v3.93 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from SYSTEMIC PRIMARY CARNITINE DEFICIENCY to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Fetal anomalies v3.92 EN1 Eleanor Williams Tag watchlist tag was added to gene: EN1.
Fetal anomalies v3.92 EN1 Eleanor Williams commented on gene: EN1: This gene was copied from the Skeletal dysplasia panel to the Fetal anomalies panel. The Genomics England clinical team have agreed that Fetal anomalies is an appropriate panel for this gene and the rating should currently be amber.
Fetal anomalies v3.92 EN1 Eleanor Williams Entity copied from Skeletal dysplasia v4.10
Fetal anomalies v3.92 EN1 Eleanor Williams gene: EN1 was added
gene: EN1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EN1 were set to 33568816
Phenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218
Fetal anomalies v3.91 EPHB4 Arina Puzriakova Phenotypes for gene: EPHB4 were changed from hydrops fetalis gene to Lymphatic malformation 7, OMIM:617300; hydrops fetalis
Fetal anomalies v3.90 ACAN Arina Puzriakova commented on gene: ACAN
Fetal anomalies v3.90 ETFB Sarah Leigh Publications for gene: ETFB were set to
Fetal anomalies v3.89 ETFB Sarah Leigh Phenotypes for gene: ETFB were changed from GLUTARIC ACIDURIA TYPE 2B to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Fetal anomalies v3.88 ETFA Sarah Leigh Phenotypes for gene: ETFA were changed from GLUTARIC ACIDURIA TYPE 2A to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Fetal anomalies v3.87 COASY Sarah Leigh Publications for gene: COASY were set to
Fetal anomalies v3.86 PRKACB Arina Puzriakova Entity copied from Skeletal ciliopathies v3.6
Fetal anomalies v3.86 PRKACB Arina Puzriakova gene: PRKACB was added
gene: PRKACB was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Q2_23_promote_green tags were added to gene: PRKACB.
Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKACB were set to 33058759
Phenotypes for gene: PRKACB were set to Cardioacrofacial dysplasia 2, OMIM:619143
Penetrance for gene: PRKACB were set to unknown
Mode of pathogenicity for gene: PRKACB 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 v3.85 PRKACA Arina Puzriakova Entity copied from Skeletal ciliopathies v3.6
Fetal anomalies v3.85 PRKACA Arina Puzriakova gene: PRKACA was added
gene: PRKACA was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Q2_23_promote_green tags were added to gene: PRKACA.
Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKACA were set to 33058759; 31130284
Phenotypes for gene: PRKACA were set to Cardioacrofacial dysplasia 1, OMIM:619142
Fetal anomalies v3.84 CHUK Arina Puzriakova Phenotypes for gene: CHUK were changed from COCOON SYNDROME to Cocoon syndrome, OMIM:613630; Popliteal pterygium syndrome, Bartsocas-Papas type 2, OMIM:619339
Fetal anomalies v3.83 BLM Arina Puzriakova Phenotypes for gene: BLM were changed from BLOOM SYNDROME to Bloom syndrome, OMIM:210900
Fetal anomalies v3.82 GRIN2B Arina Puzriakova Publications for gene: GRIN2B were set to
Fetal anomalies v3.81 GRIN2B Arina Puzriakova Phenotypes for gene: GRIN2B were changed from AUTISM; EPILEPTIC ENCEPHALOPATHY; MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 to Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970; Developmental and epileptic encephalopathy 27, OMIM:616139
Fetal anomalies v3.80 SCUBE3 Arina Puzriakova Classified gene: SCUBE3 as Amber List (moderate evidence)
Fetal anomalies v3.80 SCUBE3 Arina Puzriakova Added comment: Comment on list classification: Confirmed with Stephanie Allen that the GMS Fetal expert group determined there is sufficient evidence to classify this gene as Green (9th May 2023).
Fetal anomalies v3.80 SCUBE3 Arina Puzriakova Gene: scube3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.79 SCUBE3 Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: SCUBE3.
Tag Q3_22_rating was removed from gene: SCUBE3.
Tag Q3_22_expert_review was removed from gene: SCUBE3.
Fetal anomalies v3.79 RAB11A Arina Puzriakova Classified gene: RAB11A as Amber List (moderate evidence)
Fetal anomalies v3.79 RAB11A Arina Puzriakova Added comment: Comment on list classification: Confirmed with Stephanie Allen that the GMS Fetal expert group determined there is sufficient evidence to classify this gene as Green (9th May 2023).
Fetal anomalies v3.79 RAB11A Arina Puzriakova Gene: rab11a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.78 RAB11A Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: RAB11A.
Tag Q3_22_rating was removed from gene: RAB11A.
Tag Q3_22_expert_review was removed from gene: RAB11A.
Fetal anomalies v3.78 MRPS14 Arina Puzriakova commented on gene: MRPS14
Fetal anomalies v3.78 GATB Arina Puzriakova changed review comment from: Confirmed with Stephanie Allen that there is sufficient evidence to classify this gene as Green. Additional comments: "One family with two affected compound heterozygotes reported; however, GATB, GATC & QRSL1 function together and this is supported by functional work, therefore classified as green when combining cases across the 3 genes."; to: Confirmed with Stephanie Allen that there is sufficient evidence to classify this gene as Green (9th May 2023). Additional comments: "One family with two affected compound heterozygotes reported; however, GATB, GATC & QRSL1 function together and this is supported by functional work, therefore classified as green when combining cases across the 3 genes."
Fetal anomalies v3.78 MRPS14 Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: MRPS14.
Tag Q2_23_promote_green was removed from gene: MRPS14.
Tag Q2_23_NHS_review was removed from gene: MRPS14.
Fetal anomalies v3.78 GATB Arina Puzriakova commented on gene: GATB
Fetal anomalies v3.78 GATB Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: GATB.
Fetal anomalies v3.78 WNT9B Arina Puzriakova Classified gene: WNT9B as Amber List (moderate evidence)
Fetal anomalies v3.78 WNT9B Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Not yet associated with any phenotype in OMIM or G2P. Rating Amber as to date, only two cases have been reported in one paper but with a watchlist tag to monitor for additional cases.
Fetal anomalies v3.78 WNT9B Arina Puzriakova Gene: wnt9b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.77 WNT9B Arina Puzriakova Tag watchlist tag was added to gene: WNT9B.
Fetal anomalies v3.77 WLS Arina Puzriakova Classified gene: WLS as Amber List (moderate evidence)
Fetal anomalies v3.77 WLS Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases with different homozygous variants in this gene and a consistent phenotype to support a gene-disease association. Some features such as microcephaly and digit malformations may plausibly be detected prenatally and therefore suggesting this gene is rated Green at the next GMS panel update.
Fetal anomalies v3.77 WLS Arina Puzriakova Gene: wls has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.76 WLS Arina Puzriakova Phenotypes for gene: WLS were changed from structural congenital anomalies to Zaki syndrome, OMIM:619648
Fetal anomalies v3.75 WLS Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: WLS.
Fetal anomalies v3.75 MYL9 Arina Puzriakova Classified gene: MYL9 as Amber List (moderate evidence)
Fetal anomalies v3.75 MYL9 Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to rate this gene as Green at the next GMS panel update.
Fetal anomalies v3.75 MYL9 Arina Puzriakova Gene: myl9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.74 MYL9 Arina Puzriakova Publications for gene: MYL9 were set to 29453416; 33031641
Fetal anomalies v3.73 MYL9 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: MYL9.
Fetal anomalies v3.73 MYL9 Arina Puzriakova commented on gene: MYL9: Third family reported by Billon et al. 2020 (PMID: 32621347) with the same homozygous exon 4 deletion of MYL9 as the one detected by Moreno et al. 2018 (PMID: 29453416) in an unrelated case. Family includes three sibs affected with megacystis, intestinal malrotation, small and thin colon, as well as some dysmorphic features. Fetopathological examination confirmed the diagnosis of MMIHS.
Fetal anomalies v3.73 MYL9 Arina Puzriakova Phenotypes for gene: MYL9 were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) to Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365
Fetal anomalies v3.72 SCUBE3 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: SCUBE3.
Tag Q2_23_NHS_review tag was added to gene: SCUBE3.
Fetal anomalies v3.72 RAB11A Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: RAB11A.
Tag Q2_23_NHS_review tag was added to gene: RAB11A.
Fetal anomalies v3.72 ZMYM2 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ZMYM2.
Tag Q2_23_NHS_review tag was added to gene: ZMYM2.
Fetal anomalies v3.72 LRIG2 Arina Puzriakova Phenotypes for gene: LRIG2 were changed from UROFACIAL SYNDROME; Urofacial syndrome 2, OMIM:615112 to Urofacial syndrome 2, OMIM:615112
Fetal anomalies v3.71 AGTR1 Arina Puzriakova Publications for gene: AGTR1 were set to
Fetal anomalies v3.70 AGTR1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: AGTR1.
Tag Q2_23_NHS_review tag was added to gene: AGTR1.
Fetal anomalies v3.70 CLCN4 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: CLCN4.
Tag Q2_23_NHS_review tag was added to gene: CLCN4.
Fetal anomalies v3.70 MECOM Arina Puzriakova Phenotypes for gene: MECOM were changed from Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia; Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
Fetal anomalies v3.69 MECOM Arina Puzriakova Publications for gene: MECOM were set to
Fetal anomalies v3.68 MECOM Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: MECOM.
Tag Q2_23_NHS_review tag was added to gene: MECOM.
Fetal anomalies v3.68 WARS2 Arina Puzriakova Publications for gene: WARS2 were set to
Fetal anomalies v3.67 VARS2 Arina Puzriakova Publications for gene: VARS2 were set to
Fetal anomalies v3.66 UQCRFS1 Arina Puzriakova Publications for gene: UQCRFS1 were set to
Fetal anomalies v3.65 UQCRFS1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: UQCRFS1.
Tag Q2_23_NHS_review tag was added to gene: UQCRFS1.
Fetal anomalies v3.65 UQCC2 Arina Puzriakova Publications for gene: UQCC2 were set to
Fetal anomalies v3.64 TXN2 Arina Puzriakova Publications for gene: TXN2 were set to
Fetal anomalies v3.63 TRMU Arina Puzriakova Publications for gene: TRMU were set to
Fetal anomalies v3.62 TRIT1 Arina Puzriakova Publications for gene: TRIT1 were set to
Fetal anomalies v3.61 TMEM65 Arina Puzriakova Publications for gene: TMEM65 were set to
Fetal anomalies v3.60 TK2 Arina Puzriakova Tag watchlist was removed from gene: TK2.
Tag Q2_23_promote_green tag was added to gene: TK2.
Tag Q2_23_NHS_review tag was added to gene: TK2.
Fetal anomalies v3.60 SUCLA2 Arina Puzriakova Publications for gene: SUCLA2 were set to
Fetal anomalies v3.59 SLC25A46 Arina Puzriakova Publications for gene: SLC25A46 were set to
Fetal anomalies v3.58 SLC25A46 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: SLC25A46.
Tag Q2_23_NHS_review tag was added to gene: SLC25A46.
Fetal anomalies v3.58 SLC25A1 Arina Puzriakova Publications for gene: SLC25A1 were set to
Fetal anomalies v3.57 SFXN4 Arina Puzriakova Publications for gene: SFXN4 were set to
Fetal anomalies v3.56 SDHD Arina Puzriakova Publications for gene: SDHD were set to
Fetal anomalies v3.55 RMND1 Arina Puzriakova Phenotypes for gene: RMND1 were changed from ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT; Combined oxidative phosphorylation deficiency 11, OMIM:614922 to Combined oxidative phosphorylation deficiency 11, OMIM:614922
Fetal anomalies v3.54 RMND1 Arina Puzriakova Publications for gene: RMND1 were set to
Fetal anomalies v3.53 RMND1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: RMND1.
Tag Q2_23_NHS_review tag was added to gene: RMND1.
Fetal anomalies v3.53 QRSL1 Arina Puzriakova Publications for gene: QRSL1 were set to
Fetal anomalies v3.52 QRSL1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: QRSL1.
Tag Q2_23_NHS_review tag was added to gene: QRSL1.
Fetal anomalies v3.52 POLG Arina Puzriakova Phenotypes for gene: POLG were changed from Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459; Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700; MITOCHONDRIAL DNA DEPLETION SYNDROME 4A; Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662 to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459; Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662
Fetal anomalies v3.51 POLG Arina Puzriakova Publications for gene: POLG were set to
Fetal anomalies v3.50 PNPLA8 Arina Puzriakova Publications for gene: PNPLA8 were set to
Fetal anomalies v3.49 PNPLA8 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PNPLA8.
Tag Q2_23_NHS_review tag was added to gene: PNPLA8.
Fetal anomalies v3.49 PET100 Arina Puzriakova Phenotypes for gene: PET100 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY; Mitochondrial complex IV deficiency, nuclear type 12, OMIM:619055 to Mitochondrial complex IV deficiency, nuclear type 12, OMIM:619055
Fetal anomalies v3.48 PET100 Arina Puzriakova Publications for gene: PET100 were set to
Fetal anomalies v3.47 PET100 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PET100.
Tag Q2_23_NHS_review tag was added to gene: PET100.
Fetal anomalies v3.47 PDHX Arina Puzriakova Phenotypes for gene: PDHX were changed from LACTICACIDEMIA DUE TO PDX1 DEFICIENCY; Lacticacidemia due to PDX1 deficiency, OMIM:245349 to Lacticacidemia due to PDX1 deficiency, OMIM:245349
Fetal anomalies v3.46 PDHX Arina Puzriakova Publications for gene: PDHX were set to
Fetal anomalies v3.45 PDHX Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PDHX.
Tag Q2_23_NHS_review tag was added to gene: PDHX.
Fetal anomalies v3.45 PDHB Arina Puzriakova Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111; Pyruvate dehydrogenase E1-beta deficiency, 614111 to Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
Fetal anomalies v3.44 PDHB Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PDHB.
Tag Q2_23_NHS_review tag was added to gene: PDHB.
Fetal anomalies v3.44 PC Arina Puzriakova Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency, OMIM:266150; PYRUVATE CARBOXYLASE DEFICIENCY to Pyruvate carboxylase deficiency, OMIM:266150
Fetal anomalies v3.43 PC Arina Puzriakova Publications for gene: PC were set to
Fetal anomalies v3.42 PC Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PC.
Tag Q2_23_NHS_review tag was added to gene: PC.
Fetal anomalies v3.42 NDUFV2 Arina Puzriakova Publications for gene: NDUFV2 were set to
Fetal anomalies v3.41 NDUFS1 Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
Fetal anomalies v3.40 NDUFS1 Arina Puzriakova Publications for gene: NDUFS1 were set to
Fetal anomalies v3.39 NDUFS1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFS1.
Tag Q2_23_NHS_review tag was added to gene: NDUFS1.
Fetal anomalies v3.39 NDUFC2 Arina Puzriakova Publications for gene: NDUFC2 were set to
Fetal anomalies v3.38 NDUFB7 Arina Puzriakova Publications for gene: NDUFB7 were set to
Fetal anomalies v3.37 NDUFB3 Arina Puzriakova Publications for gene: NDUFB3 were set to
Fetal anomalies v3.36 NDUFB3 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFB3.
Tag Q2_23_NHS_review tag was added to gene: NDUFB3.
Fetal anomalies v3.36 NDUFB11 Arina Puzriakova Phenotypes for gene: NDUFB11 were changed from Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Cardiomyopathy; Agenesis of corpus callosum (ACC) to ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021; Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Cardiomyopathy; Agenesis of corpus callosum (ACC)
Fetal anomalies v3.35 NDUFB10 Arina Puzriakova Phenotypes for gene: NDUFB10 were changed from Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003; Mitochondrial complex I deficiency, nuclear type 35 , OMIM:619003 to Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003
Fetal anomalies v3.34 NDUFB10 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFB10.
Tag Q2_23_NHS_review tag was added to gene: NDUFB10.
Fetal anomalies v3.34 NDUFAF8 Arina Puzriakova Publications for gene: NDUFAF8 were set to
Fetal anomalies v3.33 NDUFAF8 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFAF8.
Tag Q2_23_NHS_review tag was added to gene: NDUFAF8.
Fetal anomalies v3.33 NDUFA6 Arina Puzriakova Publications for gene: NDUFA6 were set to
Fetal anomalies v3.32 NDUFA6 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFA6.
Tag Q2_23_NHS_review tag was added to gene: NDUFA6.
Fetal anomalies v3.32 NDUFA12 Arina Puzriakova Publications for gene: NDUFA12 were set to
Fetal anomalies v3.31 NADK2 Arina Puzriakova Publications for gene: NADK2 were set to
Fetal anomalies v3.30 MTPAP Arina Puzriakova Publications for gene: MTPAP were set to
Fetal anomalies v3.29 MTFMT Arina Puzriakova Publications for gene: MTFMT were set to
Fetal anomalies v3.28 MTFMT Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: MTFMT.
Tag Q2_23_NHS_review tag was added to gene: MTFMT.
Fetal anomalies v3.28 MRPS14 Arina Puzriakova Publications for gene: MRPS14 were set to
Fetal anomalies v3.27 MRPS14 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: MRPS14.
Tag Q2_23_promote_green tag was added to gene: MRPS14.
Tag Q2_23_NHS_review tag was added to gene: MRPS14.
Fetal anomalies v3.27 MPC2 Arina Puzriakova Publications for gene: MPC2 were set to
Fetal anomalies v3.26 MPC1 Arina Puzriakova Publications for gene: MPC1 were set to
Fetal anomalies v3.25 IBA57 Arina Puzriakova Publications for gene: IBA57 were set to
Fetal anomalies v3.24 IBA57 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: IBA57.
Tag Q2_23_NHS_review tag was added to gene: IBA57.
Fetal anomalies v3.24 GFM2 Arina Puzriakova Publications for gene: GFM2 were set to
Fetal anomalies v3.23 GATB Arina Puzriakova Publications for gene: GATB were set to
Fetal anomalies v3.22 GATB Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: GATB.
Tag Q2_23_promote_green tag was added to gene: GATB.
Tag Q2_23_NHS_review tag was added to gene: GATB.
Fetal anomalies v3.22 ECHS1 Arina Puzriakova Publications for gene: ECHS1 were set to
Fetal anomalies v3.21 ECHS1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ECHS1.
Tag Q2_23_NHS_review tag was added to gene: ECHS1.
Fetal anomalies v3.21 EARS2 Arina Puzriakova Publications for gene: EARS2 were set to
Fetal anomalies v3.20 EARS2 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: EARS2.
Tag Q2_23_NHS_review tag was added to gene: EARS2.
Fetal anomalies v3.20 DNA2 Arina Puzriakova Publications for gene: DNA2 were set to
Fetal anomalies v3.19 DNA2 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: DNA2.
Tag Q2_23_NHS_review tag was added to gene: DNA2.
Fetal anomalies v3.19 DGUOK Arina Puzriakova Publications for gene: DGUOK were set to
Fetal anomalies v3.18 DARS2 Arina Puzriakova Phenotypes for gene: DARS2 were changed from LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
Fetal anomalies v3.17 DARS2 Arina Puzriakova Publications for gene: DARS2 were set to
Fetal anomalies v3.16 DARS2 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: DARS2.
Tag Q2_23_NHS_review tag was added to gene: DARS2.
Fetal anomalies v3.16 COX14 Arina Puzriakova Publications for gene: COX14 were set to
Fetal anomalies v3.15 COQ7 Arina Puzriakova Publications for gene: COQ7 were set to
Fetal anomalies v3.14 COQ7 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: COQ7.
Tag Q2_23_NHS_review tag was added to gene: COQ7.
Fetal anomalies v3.14 COA6 Arina Puzriakova Publications for gene: COA6 were set to
Fetal anomalies v3.13 COA6 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: COA6.
Tag Q2_23_NHS_review was removed from gene: COA6.
Fetal anomalies v3.13 COA6 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: COA6.
Tag Q2_23_NHS_review tag was added to gene: COA6.
Fetal anomalies v3.13 C1QBP Arina Puzriakova Publications for gene: C1QBP were set to 32304219
Fetal anomalies v3.12 C1QBP Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: C1QBP.
Tag Q2_23_NHS_review tag was added to gene: C1QBP.
Fetal anomalies v3.12 C19orf70 Arina Puzriakova Publications for gene: C19orf70 were set to
Fetal anomalies v3.11 ATP5O Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ATP5O.
Tag Q2_23_NHS_review tag was added to gene: ATP5O.
Fetal anomalies v3.11 ATP5O Arina Puzriakova Tag Q2_23_promote_green was removed from gene: ATP5O.
Tag Q2_23_NHS_review was removed from gene: ATP5O.
Tag new-gene-name tag was added to gene: ATP5O.
Fetal anomalies v3.11 C19orf70 Arina Puzriakova Tag new-gene-name tag was added to gene: C19orf70.
Fetal anomalies v3.11 C19orf70 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: C19orf70.
Tag Q2_23_NHS_review tag was added to gene: C19orf70.
Fetal anomalies v3.11 ATP5O Arina Puzriakova Publications for gene: ATP5O were set to
Fetal anomalies v3.10 ATP5O Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ATP5O.
Tag Q2_23_NHS_review tag was added to gene: ATP5O.
Fetal anomalies v3.10 AARS2 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: AARS2.
Tag Q2_23_NHS_review tag was added to gene: AARS2.
Fetal anomalies v3.10 AARS2 Arina Puzriakova Phenotypes for gene: AARS2 were changed from Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889; fetal hydrops; cardiomyopathy; polyhydramnios; Combined oxidative phosphorylation deficiency 8, OMIM:614096; pulmonary effusion to Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889; Combined oxidative phosphorylation deficiency 8, OMIM:614096; fetal hydrops; cardiomyopathy; polyhydramnios; pulmonary effusion
Fetal anomalies v3.9 AARS2 Arina Puzriakova Publications for gene: AARS2 were set to 30819764
Fetal anomalies v3.8 SCUBE3 Stephanie Allen commented on gene: SCUBE3
Fetal anomalies v3.8 RAB11A Stephanie Allen commented on gene: RAB11A
Fetal anomalies v3.8 ZMYM2 Stephanie Allen commented on gene: ZMYM2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 LRIG2 Stephanie Allen commented on gene: LRIG2: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 AGTR1 Stephanie Allen commented on gene: AGTR1: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 CLCN4 Stephanie Allen commented on gene: CLCN4: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 MECOM Stephanie Allen commented on gene: MECOM: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 TRMU Stephanie Allen commented on gene: TRMU: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Red gene.
Fetal anomalies v3.8 NDUFA12 Stephanie Allen commented on gene: NDUFA12: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Red gene.
Fetal anomalies v3.8 WARS2 Stephanie Allen commented on gene: WARS2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 VARS2 Stephanie Allen commented on gene: VARS2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 UQCC2 Stephanie Allen commented on gene: UQCC2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 TXN2 Stephanie Allen commented on gene: TXN2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 TRIT1 Stephanie Allen commented on gene: TRIT1: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 TMEM65 Stephanie Allen commented on gene: TMEM65: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 POLG Stephanie Allen commented on gene: POLG: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 NDUFV2 Stephanie Allen commented on gene: NDUFV2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 NDUFC2 Stephanie Allen commented on gene: NDUFC2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 NDUFB7 Stephanie Allen commented on gene: NDUFB7: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 NADK2 Stephanie Allen commented on gene: NADK2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 MTPAP Stephanie Allen commented on gene: MTPAP: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 UQCRFS1 Stephanie Allen commented on gene: UQCRFS1: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 TK2 Stephanie Allen commented on gene: TK2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 PNPLA8 Stephanie Allen commented on gene: PNPLA8: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 PET100 Stephanie Allen commented on gene: PET100: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 PDHX Stephanie Allen commented on gene: PDHX: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 PDHB Stephanie Allen commented on gene: PDHB: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 PC Stephanie Allen commented on gene: PC: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 NDUFS1 Stephanie Allen commented on gene: NDUFS1: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 NDUFB3 Stephanie Allen commented on gene: NDUFB3: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 NDUFB11 Stephanie Allen commented on gene: NDUFB11: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 NDUFB10 Stephanie Allen commented on gene: NDUFB10: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 NDUFAF8 Stephanie Allen commented on gene: NDUFAF8: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 NDUFA6 Stephanie Allen commented on gene: NDUFA6: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 MTFMT Stephanie Allen commented on gene: MTFMT: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 MRPS14 Stephanie Allen commented on gene: MRPS14: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 SDHD Stephanie Allen commented on gene: SDHD: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Red gene.
Fetal anomalies v3.8 SUCLA2 Stephanie Allen commented on gene: SUCLA2: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 SLC25A1 Stephanie Allen commented on gene: SLC25A1: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 SFXN4 Stephanie Allen commented on gene: SFXN4: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 MPC2 Stephanie Allen commented on gene: MPC2: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 MPC1 Stephanie Allen commented on gene: MPC1: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 GFM2 Stephanie Allen commented on gene: GFM2: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 DGUOK Stephanie Allen commented on gene: DGUOK: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 COX14 Stephanie Allen commented on gene: COX14: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 COA6 Stephanie Allen commented on gene: COA6: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Fetal anomalies v3.8 SLC25A46 Stephanie Allen commented on gene: SLC25A46: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 RMND1 Stephanie Allen commented on gene: RMND1: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 QRSL1 Stephanie Allen commented on gene: QRSL1: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 IBA57 Stephanie Allen commented on gene: IBA57: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 GATB Stephanie Allen commented on gene: GATB: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 ECHS1 Stephanie Allen commented on gene: ECHS1: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 EARS2 Stephanie Allen commented on gene: EARS2: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 DNA2 Stephanie Allen commented on gene: DNA2: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 DARS2 Stephanie Allen commented on gene: DARS2: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 COQ7 Stephanie Allen commented on gene: COQ7: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 C1QBP Stephanie Allen commented on gene: C1QBP: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 C19orf70 Stephanie Allen commented on gene: C19orf70: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 ATP5O Stephanie Allen commented on gene: ATP5O: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 AARS2 Stephanie Allen commented on gene: AARS2: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v3.8 ZMYM2 Stephanie Allen reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.8 LRIG2 Stephanie Allen reviewed gene: LRIG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Urofacial syndrome 2, OMIM:615112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 AGTR1 Stephanie Allen reviewed gene: AGTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, OMIM:267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 CLCN4 Stephanie Allen reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Raynaud-Claes syndrome, OMIM:300114; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.8 MECOM Stephanie Allen reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: 29540340, 26581901; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.8 WARS2 Stephanie Allen reviewed gene: WARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30920170, 28905505, 35074316, 29783990; Phenotypes: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, OMIM:617710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 VARS2 Stephanie Allen reviewed gene: VARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33937156, 29314548, 29478218; Phenotypes: Combined oxidative phosphorylation deficiency 20, OMIM:615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 UQCRFS1 Stephanie Allen reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883641; Phenotypes: Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 UQCC2 Stephanie Allen reviewed gene: UQCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28804536, 24385928; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 TXN2 Stephanie Allen reviewed gene: TXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26626369; Phenotypes: ?Combined oxidative phosphorylation deficiency 29 , OMIM:616811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 TRMU Stephanie Allen reviewed gene: TRMU: Rating: RED; Mode of pathogenicity: ; Publications: 23625533; Phenotypes: Liver failure, transient infantile, OMIM:613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 TRIT1 Stephanie Allen reviewed gene: TRIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32088416; Phenotypes: Combined oxidative phosphorylation deficiency 35, OMIM:617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 TMEM65 Stephanie Allen reviewed gene: TMEM65: Rating: AMBER; Mode of pathogenicity: ; Publications: 28295037; Phenotypes: TMEM65 related mitochondrial encephalopmyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 TK2 Stephanie Allen reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 SUCLA2 Stephanie Allen reviewed gene: SUCLA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 17287286; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 SLC25A46 Stephanie Allen reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: 28653766, 35012485, 27543974, 26951855; Phenotypes: Pontocerebellar hypoplasia, type 1E, OMIM:619303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 SLC25A1 Stephanie Allen reviewed gene: SLC25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23393310, 24687295, 25614306; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria, OMIM:615182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 SFXN4 Stephanie Allen reviewed gene: SFXN4: Rating: AMBER; Mode of pathogenicity: ; Publications: 24119684; Phenotypes: Combined oxidative phosphorylation deficiency 18, OMIM:615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 SDHD Stephanie Allen reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: ; Publications: 26008905; Phenotypes: Mitochondrial complex II deficiency, nuclear type 3, OMIM:619167; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 RMND1 Stephanie Allen reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25604853, 27412952; Phenotypes: Combined oxidative phosphorylation deficiency 11, OMIM:614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 QRSL1 Stephanie Allen reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29440775, 30283131; Phenotypes: Combined oxidative phosphorylation deficiency 40, OMIM:618835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 POLG Stephanie Allen reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: 29574624, 33579567, 8368248; Phenotypes: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459, Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 PNPLA8 Stephanie Allen reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29681094, 34177434; Phenotypes: ?Mitochondrial myopathy with lactic acidosis, OMIM:251950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 PET100 Stephanie Allen reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: 25293719; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 12, OMIM:619055; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 PDHX Stephanie Allen reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: 20002125, 34873726; Phenotypes: Lacticacidemia due to PDX1 deficiency, OMIM:245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 PDHB Stephanie Allen reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 26865159; Phenotypes: Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 PC Stephanie Allen reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: 30870574, 29752808, 34485016, 10323732; Phenotypes: Pyruvate carboxylase deficiency, OMIM:266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 NDUFV2 Stephanie Allen reviewed gene: NDUFV2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26008862; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 NDUFS1 Stephanie Allen reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20382551, 31557978; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 NDUFC2 Stephanie Allen reviewed gene: NDUFC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32969598; Phenotypes: Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 NDUFB7 Stephanie Allen reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: ; Publications: 33502047; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 NDUFB3 Stephanie Allen reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27091925, 22277967; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 NDUFB11 Stephanie Allen reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: 25772934; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021, Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.8 NDUFB10 Stephanie Allen reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: 31130284, 28040730; Phenotypes: Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 NDUFAF8 Stephanie Allen reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 31866046; Phenotypes: Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 NDUFA6 Stephanie Allen reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 30245030; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 NDUFA12 Stephanie Allen reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: ; Publications: 32341820, 35141356; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 NADK2 Stephanie Allen reviewed gene: NADK2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27940755; Phenotypes: 2,4-dienoyl-CoA reductase deficiency, OMIM:616034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 MTPAP Stephanie Allen reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: 31779033; Phenotypes: ?Spastic ataxia 4, autosomal recessive, OMIM:613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 MTFMT Stephanie Allen reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: ; Publications: 27393152, 30911575; Phenotypes: Combined oxidative phosphorylation deficiency 15, OMIM:614947, Mitochondrial complex I deficiency, nuclear type 27, OMIM:618248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 MRPS14 Stephanie Allen reviewed gene: MRPS14: Rating: GREEN; Mode of pathogenicity: ; Publications: 30358850; Phenotypes: ?Combined oxidative phosphorylation deficiency 38, OMIM:618378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 MPC2 Stephanie Allen reviewed gene: MPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 36417180; Phenotypes: Mitochondrial pyruvate carrier deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 MPC1 Stephanie Allen reviewed gene: MPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 34873722, 31145700; Phenotypes: Mitochondrial pyruvate carrier deficiency, OMIM:614741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 IBA57 Stephanie Allen reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: 23462291, 33890810; Phenotypes: Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 GFM2 Stephanie Allen reviewed gene: GFM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29075935, 26016410; Phenotypes: Combined oxidative phosphorylation deficiency 39, OMIM:618397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 GATB Stephanie Allen reviewed gene: GATB: Rating: GREEN; Mode of pathogenicity: ; Publications: 30283131; Phenotypes: ?Combined oxidative phosphorylation deficiency 41, OMIM:618838; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 ECHS1 Stephanie Allen reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30918357, 26920905, 26000322; Phenotypes: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 EARS2 Stephanie Allen reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27571996, 31680123; Phenotypes: Combined oxidative phosphorylation deficiency 12, OMIM:614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 DNA2 Stephanie Allen reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31045292, 24389050; Phenotypes: Seckel syndrome 8, OMIM:615807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 DGUOK Stephanie Allen reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: ; Publications: 22868686; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070, Portal hypertension, noncirrhotic, 1, OMIM:617068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 DARS2 Stephanie Allen reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33977142; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 COX14 Stephanie Allen reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: ; Publications: 22243966; Phenotypes: ?Mitochondrial complex IV deficiency, nuclear type 10 , OMIM:619053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 COQ7 Stephanie Allen reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: ; Publications: 26084283, 31240163; Phenotypes: ?Coenzyme Q10 deficiency, primary, 8, OMIM:616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 COA6 Stephanie Allen reviewed gene: COA6: Rating: AMBER; Mode of pathogenicity: ; Publications: 22277967, 25339201; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 C1QBP Stephanie Allen reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 33977026, 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, OMIM:617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 C19orf70 Stephanie Allen reviewed gene: C19orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: 27485409, 29618761; Phenotypes: Combined oxidative phosphorylation deficiency 37, OMIM:618329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 ATP5O Stephanie Allen reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: ; Publications: 35621276; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 AARS2 Stephanie Allen reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30819764, 28822227, 21549344; Phenotypes: Combined oxidative phosphorylation deficiency 8, OMIM:614096, Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.7 ZMYM2 Arina Puzriakova gene: ZMYM2 was added
gene: ZMYM2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZMYM2 were set to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522
Fetal anomalies v3.7 LRIG2 Arina Puzriakova Added phenotypes Urofacial syndrome 2, OMIM:615112 for gene: LRIG2
Fetal anomalies v3.7 AGTR1 Arina Puzriakova gene: AGTR1 was added
gene: AGTR1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis, OMIM:267430
Fetal anomalies v3.7 CLCN4 Arina Puzriakova gene: CLCN4 was added
gene: CLCN4 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CLCN4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CLCN4 were set to Raynaud-Claes syndrome, OMIM:300114
Fetal anomalies v3.7 MECOM Arina Puzriakova Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 for gene: MECOM
Fetal anomalies v3.7 TK2 Arina Puzriakova Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 for gene: TK2
Fetal anomalies v3.7 RMND1 Arina Puzriakova Added phenotypes Combined oxidative phosphorylation deficiency 11, OMIM:614922 for gene: RMND1
Fetal anomalies v3.7 PET100 Arina Puzriakova Added phenotypes Mitochondrial complex IV deficiency, nuclear type 12, OMIM:619055 for gene: PET100
Fetal anomalies v3.7 NDUFB10 Arina Puzriakova Added phenotypes Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 for gene: NDUFB10
Fetal anomalies v3.7 C1QBP Arina Puzriakova Added phenotypes Combined oxidative phosphorylation deficiency 33, OMIM:617713 for gene: C1QBP
Fetal anomalies v3.7 POLG Arina Puzriakova Source Expert Review Amber was added to POLG.
Added phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459; Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662 for gene: POLG
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v3.7 PDHX Arina Puzriakova Source Expert Review Amber was added to PDHX.
Added phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349 for gene: PDHX
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v3.7 PDHB Arina Puzriakova Source Expert Review Amber was added to PDHB.
Added phenotypes Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 for gene: PDHB
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v3.7 PC Arina Puzriakova Source Expert Review Amber was added to PC.
Added phenotypes Pyruvate carboxylase deficiency, OMIM:266150 for gene: PC
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v3.7 NDUFS1 Arina Puzriakova Source Expert Review Amber was added to NDUFS1.
Added phenotypes Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 for gene: NDUFS1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v3.7 DARS2 Arina Puzriakova Source Expert Review Amber was added to DARS2.
Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 for gene: DARS2
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v3.7 TRMU Arina Puzriakova gene: TRMU was added
gene: TRMU was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMU were set to Liver failure, transient infantile, OMIM:613070
Fetal anomalies v3.7 SDHD Arina Puzriakova gene: SDHD was added
gene: SDHD was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHD were set to Mitochondrial complex II deficiency, nuclear type 3, OMIM:619167
Fetal anomalies v3.7 NDUFA12 Arina Puzriakova gene: NDUFA12 was added
gene: NDUFA12 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA12 were set to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Fetal anomalies v3.7 WARS2 Arina Puzriakova gene: WARS2 was added
gene: WARS2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, OMIM:617710
Fetal anomalies v3.7 VARS2 Arina Puzriakova gene: VARS2 was added
gene: VARS2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, OMIM:615917
Fetal anomalies v3.7 UQCRFS1 Arina Puzriakova gene: UQCRFS1 was added
gene: UQCRFS1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRFS1 were set to Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775
Fetal anomalies v3.7 UQCC2 Arina Puzriakova gene: UQCC2 was added
gene: UQCC2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
Fetal anomalies v3.7 TXN2 Arina Puzriakova gene: TXN2 was added
gene: TXN2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TXN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXN2 were set to ?Combined oxidative phosphorylation deficiency 29 , OMIM:616811
Fetal anomalies v3.7 TRIT1 Arina Puzriakova gene: TRIT1 was added
gene: TRIT1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, OMIM:617873
Fetal anomalies v3.7 TMEM65 Arina Puzriakova gene: TMEM65 was added
gene: TMEM65 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM65 were set to TMEM65 related mitochondrial encephalopmyopathy
Fetal anomalies v3.7 SUCLA2 Arina Puzriakova gene: SUCLA2 was added
gene: SUCLA2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
Fetal anomalies v3.7 SLC25A46 Arina Puzriakova gene: SLC25A46 was added
gene: SLC25A46 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A46 were set to Pontocerebellar hypoplasia, type 1E, OMIM:619303
Fetal anomalies v3.7 SLC25A1 Arina Puzriakova gene: SLC25A1 was added
gene: SLC25A1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, OMIM:615182
Fetal anomalies v3.7 SFXN4 Arina Puzriakova gene: SFXN4 was added
gene: SFXN4 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SFXN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SFXN4 were set to Combined oxidative phosphorylation deficiency 18, OMIM:615578
Fetal anomalies v3.7 QRSL1 Arina Puzriakova gene: QRSL1 was added
gene: QRSL1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: QRSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QRSL1 were set to Combined oxidative phosphorylation deficiency 40, OMIM:618835
Fetal anomalies v3.7 PNPLA8 Arina Puzriakova gene: PNPLA8 was added
gene: PNPLA8 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PNPLA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA8 were set to ?Mitochondrial myopathy with lactic acidosis, OMIM:251950
Fetal anomalies v3.7 NDUFV2 Arina Puzriakova gene: NDUFV2 was added
gene: NDUFV2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229
Fetal anomalies v3.7 NDUFC2 Arina Puzriakova gene: NDUFC2 was added
gene: NDUFC2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170
Fetal anomalies v3.7 NDUFB7 Arina Puzriakova gene: NDUFB7 was added
gene: NDUFB7 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB7 were set to ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Fetal anomalies v3.7 NDUFB3 Arina Puzriakova gene: NDUFB3 was added
gene: NDUFB3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
Fetal anomalies v3.7 NDUFAF8 Arina Puzriakova gene: NDUFAF8 was added
gene: NDUFAF8 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF8 were set to Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776
Fetal anomalies v3.7 NDUFA6 Arina Puzriakova gene: NDUFA6 was added
gene: NDUFA6 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253
Fetal anomalies v3.7 NADK2 Arina Puzriakova gene: NADK2 was added
gene: NADK2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, OMIM:616034
Fetal anomalies v3.7 MTPAP Arina Puzriakova gene: MTPAP was added
gene: MTPAP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTPAP were set to ?Spastic ataxia 4, autosomal recessive, OMIM:613672
Fetal anomalies v3.7 MTFMT Arina Puzriakova gene: MTFMT was added
gene: MTFMT was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, OMIM:614947; Mitochondrial complex I deficiency, nuclear type 27, OMIM:618248
Fetal anomalies v3.7 MRPS14 Arina Puzriakova gene: MRPS14 was added
gene: MRPS14 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS14 were set to ?Combined oxidative phosphorylation deficiency 38, OMIM:618378
Fetal anomalies v3.7 MPC2 Arina Puzriakova gene: MPC2 was added
gene: MPC2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPC2 were set to Mitochondrial pyruvate carrier deficiency
Fetal anomalies v3.7 MPC1 Arina Puzriakova gene: MPC1 was added
gene: MPC1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPC1 were set to Mitochondrial pyruvate carrier deficiency, OMIM:614741
Fetal anomalies v3.7 IBA57 Arina Puzriakova gene: IBA57 was added
gene: IBA57 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330
Fetal anomalies v3.7 GFM2 Arina Puzriakova gene: GFM2 was added
gene: GFM2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: GFM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM2 were set to Combined oxidative phosphorylation deficiency 39, OMIM:618397
Fetal anomalies v3.7 GATB Arina Puzriakova gene: GATB was added
gene: GATB was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: GATB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATB were set to ?Combined oxidative phosphorylation deficiency 41, OMIM:618838
Fetal anomalies v3.7 ECHS1 Arina Puzriakova gene: ECHS1 was added
gene: ECHS1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
Fetal anomalies v3.7 EARS2 Arina Puzriakova gene: EARS2 was added
gene: EARS2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, OMIM:614924
Fetal anomalies v3.7 DNA2 Arina Puzriakova gene: DNA2 was added
gene: DNA2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNA2 were set to Seckel syndrome 8, OMIM:615807
Fetal anomalies v3.7 DGUOK Arina Puzriakova gene: DGUOK was added
gene: DGUOK was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070; Portal hypertension, noncirrhotic, 1, OMIM:617068
Fetal anomalies v3.7 COX14 Arina Puzriakova gene: COX14 was added
gene: COX14 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, nuclear type 10 , OMIM:619053
Fetal anomalies v3.7 COQ7 Arina Puzriakova gene: COQ7 was added
gene: COQ7 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ7 were set to ?Coenzyme Q10 deficiency, primary, 8, OMIM:616733
Fetal anomalies v3.7 COA6 Arina Puzriakova gene: COA6 was added
gene: COA6 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA6 were set to Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501
Fetal anomalies v3.7 C19orf70 Arina Puzriakova gene: C19orf70 was added
gene: C19orf70 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, OMIM:618329
Fetal anomalies v3.7 ATP5O Arina Puzriakova gene: ATP5O was added
gene: ATP5O was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency
Fetal anomalies v3.7 AARS2 Arina Puzriakova Source Expert Review Amber was added to AARS2.
Added phenotypes Combined oxidative phosphorylation deficiency 8, OMIM:614096; Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889 for gene: AARS2
Rating Changed from No List (delete) to Amber List (moderate evidence)
Fetal anomalies v3.6 CDX2 Arina Puzriakova Publications for gene: CDX2 were set to PMID: 34671974
Fetal anomalies v3.5 CDX2 Arina Puzriakova Classified gene: CDX2 as Amber List (moderate evidence)
Fetal anomalies v3.5 CDX2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). At least 8 unrelated families reported with de novo or inherited pathogenic variants in CDX2. Phenotypic findings comprise a broad spectrum of caudal abnormalities including defects of the uro‐recto‐genital tract, vertebrae, and the limbs. Cdx2 mutant mice show a variable phenotype that is comparable to that of patients (including imperforate anus, sirenomelia, posterior vertebral truncations, and bladder anomalies).

Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update.
Fetal anomalies v3.5 CDX2 Arina Puzriakova Gene: cdx2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.4 CDX2 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: CDX2.
Fetal anomalies v3.4 AAAS Arina Puzriakova Classified gene: AAAS as Green List (high evidence)
Fetal anomalies v3.4 AAAS Arina Puzriakova Added comment: Comment on list classification: Maintaining Green rating as this gene was previously determined to be appropriate for this panel by the NHS GMS Fetal expert group at GOSH.
Fetal anomalies v3.4 AAAS Arina Puzriakova Gene: aaas has been classified as Green List (High Evidence).
Fetal anomalies v3.3 KIF21A Arina Puzriakova Publications for gene: KIF21A were set to 34740919
Fetal anomalies v3.2 KIF21A Arina Puzriakova Classified gene: KIF21A as Amber List (moderate evidence)
Fetal anomalies v3.2 KIF21A Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to recommend this gene to NHS GMS for promoting to green rating.

There are two unrelated families with homozygous loss of function variants in KIF21A were reported with severe fetal akinesia with arthrogryposis multiplex in PMID:34740919. Hannah Robinson (South West Genomic Laboratory Hub) reported an additional case identified in Exeter Genomics Laboratory exhibiting homozygous nonsense variant in KIF21A and was diagnosed with arthrogryposis.

In addition, PMID:32686171 reports overlapping phenotypes observed in KIF21A null piglets, where a 63-bp insertion in exon 2 of the porcine KIF21A gene is associated with arthrogryposis multiplex congenita.
Fetal anomalies v3.2 KIF21A Arina Puzriakova Gene: kif21a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.1 KIF21A Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: KIF21A.
Tag Q2_23_NHS_review tag was added to gene: KIF21A.
Fetal anomalies v3.1 AARS2 Patrick Campbell gene: AARS2 was added
gene: AARS2 was added to Fetal anomalies. Sources: NHS GMS
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS2 were set to 30819764
Phenotypes for gene: AARS2 were set to fetal hydrops; polyhydramnios; pulmonary effusion; cardiomyopathy
Penetrance for gene: AARS2 were set to Complete
Mode of pathogenicity for gene: AARS2 was set to Other
Review for gene: AARS2 was set to GREEN
Added comment: This gene is not on R21. It can cause fetal phenotype and early neonatal death with bi-allelic variants. We had a fetus present locally with fetal hydrops from around 28 weeks. The result was discovered on whole genome sequencing after miscarriage (R14). It would not have been identified on R21 for fetal anomalies. The local finding of presentation antenatally is corroborated by recent publication (PMID 30819764) with a case showing polyhydramnios and nonimmune hydrops, with small pulmonary effusions and significant ascites first detected at 35 wk of pregnancy.
Consideration should be given to adding the gene to R21.
Sources: NHS GMS
Fetal anomalies v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2023-03-22
Fetal anomalies v3.0 Arina Puzriakova promoted panel to version 3.0
Fetal anomalies v2.17 SMARCC1 Eleanor Williams Added comment: Comment on phenotypes: Adding the OMIM phenotype and removing the gene-checked tag.
Fetal anomalies v2.17 SMARCC1 Eleanor Williams Phenotypes for gene: SMARCC1 were changed from Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities to Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities; {Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241
Fetal anomalies v2.16 SMARCC1 Eleanor Williams Tag gene-checked was removed from gene: SMARCC1.
Fetal anomalies v2.16 KPTN Sarah Leigh Phenotypes for gene: KPTN were changed from MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES to Intellectual developmental disorder, autosomal recessive 41, OMIM:615637; macrocephaly-developmental delay syndrome, MONDO:0014289
Fetal anomalies v2.15 PLXND1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: PLXND1.
Fetal anomalies v2.15 PLXND1 Achchuthan Shanmugasundram Classified gene: PLXND1 as Amber List (moderate evidence)
Fetal anomalies v2.15 PLXND1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) to be promoted to GREEN rating at the next GMS panel update.
Fetal anomalies v2.15 PLXND1 Achchuthan Shanmugasundram Gene: plxnd1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v2.14 PLXND1 Achchuthan Shanmugasundram gene: PLXND1 was added
gene: PLXND1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PLXND1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLXND1 were set to 35396997
Phenotypes for gene: PLXND1 were set to Truncus arteriosus, HP:0001660
Review for gene: PLXND1 was set to GREEN
Added comment: 10 individuals including four foetal cases from five unrelated families were identified with biallelic variants in PLXND1 gene and they presented with cardiac defects. The most frequent defect is common arterial trunk (CAT), which is also known as truncus arteriosus, a conotruncal malformation characterized by a single vessel exiting both ventricles.

This gene has already been associated with PLXND1-related cardiac malformation syndrome with the confidence category of 'strong' in DD panel of Gene2Phenotype. However, no relevant phenotypes have been currently reported in OMIM.
Sources: Literature
Fetal anomalies v2.13 SELENON Achchuthan Shanmugasundram Added comment: Comment on phenotypes: Comment on phenotypes: OMIM associates 'Myopathy, congenital, with fiber-type disproportion, OMIM:255310' with TPM3 and not with SELENON. Hence, it has been removed here.
Fetal anomalies v2.13 SELENON Achchuthan Shanmugasundram Phenotypes for gene: SELENON were changed from Myopathy, congenital, with fiber-type disproportion 255310; Muscular dystrophy, rigid spine 602771 to Muscular dystrophy, rigid spine, 1, OMIM:602771
Fetal anomalies v2.12 CHAMP1 Achchuthan Shanmugasundram Phenotypes for gene: CHAMP1 were changed from INTELLECTUAL DISABILITY to Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579
Fetal anomalies v2.11 RAB39B Achchuthan Shanmugasundram Phenotypes for gene: RAB39B were changed from MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS to Intellectual developmental disorder, X-linked 72, OMIM:300271; Waisman syndrome, OMIM:311510
Fetal anomalies v2.10 WNT7B Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WNT7B.
Fetal anomalies v2.10 SLC20A1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SLC20A1.
Fetal anomalies v2.10 RAB11A Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RAB11A.
Fetal anomalies v2.10 FOXP4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FOXP4.
Fetal anomalies v2.10 SCUBE3 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: SCUBE3.
Fetal anomalies v2.10 RAB11A Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: RAB11A.
Fetal anomalies v2.10 MED12 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: MED12.
Fetal anomalies v2.10 LIFR Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: LIFR.
Fetal anomalies v2.10 FOXP4 Arina Puzriakova Tag Q2_21_rating was removed from gene: FOXP4.
Tag Q2_21_phenotype was removed from gene: FOXP4.
Tag Q2_21_expert_review was removed from gene: FOXP4.
Fetal anomalies v2.10 WNT7B Arina Puzriakova Tag Q3_22_rating was removed from gene: WNT7B.
Tag Q3_22_NHS_review was removed from gene: WNT7B.
Fetal anomalies v2.10 WBP11 Arina Puzriakova Tag Q2_21_rating was removed from gene: WBP11.
Fetal anomalies v2.10 TMEM70 Arina Puzriakova Tag Q3_22_rating was removed from gene: TMEM70.
Tag Q3_22_NHS_review was removed from gene: TMEM70.
Fetal anomalies v2.10 TMEM260 Arina Puzriakova Tag Q4_21_rating was removed from gene: TMEM260.
Fetal anomalies v2.10 TLL1 Arina Puzriakova Tag Q1_22_rating was removed from gene: TLL1.
Fetal anomalies v2.10 SYNE1 Arina Puzriakova Tag Q2_21_rating was removed from gene: SYNE1.
Fetal anomalies v2.10 SLC20A1 Arina Puzriakova Tag Q2_21_rating was removed from gene: SLC20A1.
Fetal anomalies v2.10 SLC12A6 Arina Puzriakova Tag for-review was removed from gene: SLC12A6.
Fetal anomalies v2.10 SETD2 Arina Puzriakova Tag Q3_22_rating was removed from gene: SETD2.
Tag Q3_22_NHS_review was removed from gene: SETD2.
Fetal anomalies v2.10 RAC3 Arina Puzriakova Tag Q2_22_rating was removed from gene: RAC3.
Fetal anomalies v2.10 PLD1 Arina Puzriakova Tag Q2_21_rating was removed from gene: PLD1.
Tag Q3_22_NHS_review was removed from gene: PLD1.
Fetal anomalies v2.10 PLCB4 Arina Puzriakova Tag Q2_22_rating was removed from gene: PLCB4.
Fetal anomalies v2.10 PEX6 Arina Puzriakova Tag Q1_22_MOI was removed from gene: PEX6.
Fetal anomalies v2.10 OTUD5 Arina Puzriakova Tag Q2_21_rating was removed from gene: OTUD5.
Fetal anomalies v2.10 NDUFB11 Arina Puzriakova Tag Q3_22_rating was removed from gene: NDUFB11.
Tag Q3_22_NHS_review was removed from gene: NDUFB11.
Fetal anomalies v2.10 MYH6 Arina Puzriakova Tag Q1_22_MOI was removed from gene: MYH6.
Fetal anomalies v2.10 MTM1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: MTM1.
Fetal anomalies v2.10 MED13L Arina Puzriakova Tag Q3_22_rating was removed from gene: MED13L.
Tag Q3_22_NHS_review was removed from gene: MED13L.
Fetal anomalies v2.10 LTBP3 Arina Puzriakova Tag Q1_22_MOI was removed from gene: LTBP3.
Fetal anomalies v2.10 LARS2 Arina Puzriakova Tag Q2_21_rating was removed from gene: LARS2.
Fetal anomalies v2.10 KIDINS220 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: KIDINS220.
Fetal anomalies v2.10 HSF4 Arina Puzriakova Tag Q1_22_MOI was removed from gene: HSF4.
Fetal anomalies v2.10 GRIN1 Arina Puzriakova Tag Q3_21_MOI was removed from gene: GRIN1.
Fetal anomalies v2.10 FBN2 Arina Puzriakova Tag Q2_21_MOI was removed from gene: FBN2.
Fetal anomalies v2.10 EHBP1L1 Arina Puzriakova Tag Q4_21_rating was removed from gene: EHBP1L1.
Fetal anomalies v2.10 EDNRB Arina Puzriakova Tag Q4_21_MOI was removed from gene: EDNRB.
Fetal anomalies v2.10 EDA Arina Puzriakova Tag Q3_22_rating was removed from gene: EDA.
Tag Q3_22_NHS_review was removed from gene: EDA.
Fetal anomalies v2.10 DPH1 Arina Puzriakova Tag Q2_21_rating was removed from gene: DPH1.
Fetal anomalies v2.10 DMPK Arina Puzriakova Tag Q3_21_MOI was removed from gene: DMPK.
Tag Q3_21_rating was removed from gene: DMPK.
Tag Q3_21_expert_review was removed from gene: DMPK.
Fetal anomalies v2.10 CYP11B1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: CYP11B1.
Fetal anomalies v2.10 CYP11A1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: CYP11A1.
Fetal anomalies v2.10 CRYBB3 Arina Puzriakova Tag Q4_21_MOI was removed from gene: CRYBB3.
Fetal anomalies v2.10 COL6A3 Arina Puzriakova Tag Q4_21_MOI was removed from gene: COL6A3.
Fetal anomalies v2.10 COL6A1 Arina Puzriakova Tag Q4_21_MOI was removed from gene: COL6A1.
Fetal anomalies v2.10 COL1A2 Arina Puzriakova Tag Q3_22_MOI was removed from gene: COL1A2.
Tag Q3_22_expert_review was removed from gene: COL1A2.
Fetal anomalies v2.10 CLPB Arina Puzriakova Tag Q4_21_expert_review was removed from gene: CLPB.
Tag Q4_21_MOI was removed from gene: CLPB.
Fetal anomalies v2.10 CLCN7 Arina Puzriakova Tag Q4_21_MOI was removed from gene: CLCN7.
Fetal anomalies v2.10 BHLHA9 Arina Puzriakova Tag Q4_21_MOI was removed from gene: BHLHA9.
Fetal anomalies v2.10 ATAD3A Arina Puzriakova Tag Q3_21_MOI was removed from gene: ATAD3A.
Fetal anomalies v2.10 AP1S2 Arina Puzriakova Tag Q4_21_MOI was removed from gene: AP1S2.
Fetal anomalies v2.10 DMPK_CTG Arina Puzriakova Tag Q3_21_rating was removed from STR: DMPK_CTG.
Tag Q3_21_expert_review was removed from STR: DMPK_CTG.
Fetal anomalies v2.10 DMPK_CTG Arina Puzriakova commented on STR: DMPK_CTG: After NHS Genomic Medicine Service consideration, the rating of this STR has not been changed and remains Amber.
Fetal anomalies v2.10 SCUBE3 Arina Puzriakova commented on gene: SCUBE3: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Fetal anomalies v2.10 RAB11A Arina Puzriakova commented on gene: RAB11A
Fetal anomalies v2.10 MED12 Arina Puzriakova commented on gene: MED12
Fetal anomalies v2.10 LIFR Arina Puzriakova commented on gene: LIFR
Fetal anomalies v2.10 KIDINS220 Arina Puzriakova commented on gene: KIDINS220: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to Green. However, the mode of inheritance of 'BIALLELIC, autosomal or pseudoautosomal' was approved following NHS Genomic Medicine Service consideration.
Fetal anomalies v2.10 FOXP4 Arina Puzriakova reviewed gene: FOXP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 WNT7B Arina Puzriakova edited their review of gene: WNT7B: 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
Fetal anomalies v2.10 WBP11 Arina Puzriakova reviewed gene: WBP11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 TMEM70 Arina Puzriakova edited their review of gene: TMEM70: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 TMEM260 Arina Puzriakova reviewed gene: TMEM260: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 TLL1 Arina Puzriakova reviewed gene: TLL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 SYNE1 Arina Puzriakova commented on gene: SYNE1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 SLC20A1 Arina Puzriakova edited their review of gene: SLC20A1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 SLC12A6 Arina Puzriakova commented on gene: SLC12A6
Fetal anomalies v2.10 SETD2 Arina Puzriakova edited their review of gene: SETD2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 RAC3 Arina Puzriakova edited their review of gene: RAC3: 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
Fetal anomalies v2.10 PLD1 Arina Puzriakova edited their review of gene: PLD1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 PLCB4 Arina Puzriakova reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 PEX6 Arina Puzriakova commented on gene: PEX6
Fetal anomalies v2.10 OTUD5 Arina Puzriakova commented on gene: OTUD5: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 NDUFB11 Arina Puzriakova edited their review of gene: NDUFB11: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 MYH6 Arina Puzriakova commented on gene: MYH6
Fetal anomalies v2.10 MTM1 Arina Puzriakova commented on gene: MTM1: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 MED13L Arina Puzriakova edited their review of gene: MED13L: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 LTBP3 Arina Puzriakova commented on gene: LTBP3
Fetal anomalies v2.10 LARS2 Arina Puzriakova commented on gene: LARS2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 HSF4 Arina Puzriakova commented on gene: HSF4: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 GRIN1 Arina Puzriakova commented on gene: GRIN1
Fetal anomalies v2.10 FBN2 Arina Puzriakova commented on gene: FBN2
Fetal anomalies v2.10 EHBP1L1 Arina Puzriakova reviewed gene: EHBP1L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 EDNRB Arina Puzriakova commented on gene: EDNRB
Fetal anomalies v2.10 EDA Arina Puzriakova edited their review of gene: EDA: Added comment: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED
Fetal anomalies v2.10 DPH1 Arina Puzriakova commented on gene: DPH1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 DMPK Arina Puzriakova edited their review of gene: DMPK: Added comment: The rating of this gene has been updated to Red and the mode of inheritance set to 'Other' following NHS Genomic Medicine Service approval.; Changed rating: RED
Fetal anomalies v2.10 CYP11B1 Arina Puzriakova commented on gene: CYP11B1: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 CYP11A1 Arina Puzriakova commented on gene: CYP11A1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 CRYBB3 Arina Puzriakova commented on gene: CRYBB3: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 COL6A3 Arina Puzriakova commented on gene: COL6A3: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 COL6A1 Arina Puzriakova commented on gene: COL6A1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 COL1A2 Arina Puzriakova commented on gene: COL1A2
Fetal anomalies v2.10 CLPB Arina Puzriakova commented on gene: CLPB: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 CLCN7 Arina Puzriakova commented on gene: CLCN7: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 BHLHA9 Arina Puzriakova commented on gene: BHLHA9
Fetal anomalies v2.10 ATAD3A Arina Puzriakova commented on gene: ATAD3A: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 AP1S2 Arina Puzriakova commented on gene: AP1S2: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.9 WNT7B Arina Puzriakova Source Expert Review Green was added to WNT7B.
Source NHS GMS was added to WNT7B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 WBP11 Arina Puzriakova Source Expert Review Green was added to WBP11.
Source NHS GMS was added to WBP11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 TMEM70 Arina Puzriakova Source Expert Review Green was added to TMEM70.
Source NHS GMS was added to TMEM70.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 TMEM260 Arina Puzriakova Source Expert Review Green was added to TMEM260.
Source NHS GMS was added to TMEM260.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 TLL1 Arina Puzriakova Source Expert Review Green was added to TLL1.
Source NHS GMS was added to TLL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 SYNE1 Arina Puzriakova Source Expert Review Green was added to SYNE1.
Source NHS GMS was added to SYNE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 SLC20A1 Arina Puzriakova Source Expert Review Green was added to SLC20A1.
Source NHS GMS was added to SLC20A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 SLC12A6 Arina Puzriakova Source NHS GMS was added to SLC12A6.
Mode of inheritance for gene SLC12A6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 SETD2 Arina Puzriakova Source Expert Review Green was added to SETD2.
Source NHS GMS was added to SETD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 RAC3 Arina Puzriakova Source Expert Review Green was added to RAC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 PLD1 Arina Puzriakova Source Expert Review Green was added to PLD1.
Source NHS GMS was added to PLD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 PLCB4 Arina Puzriakova Source Expert Review Green was added to PLCB4.
Source NHS GMS was added to PLCB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 PEX6 Arina Puzriakova Source NHS GMS was added to PEX6.
Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 OTUD5 Arina Puzriakova Source Expert Review Green was added to OTUD5.
Source NHS GMS was added to OTUD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 NDUFB11 Arina Puzriakova Source Expert Review Green was added to NDUFB11.
Source NHS GMS was added to NDUFB11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 MYH6 Arina Puzriakova Source NHS GMS was added to MYH6.
Mode of inheritance for gene MYH6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 MTM1 Arina Puzriakova Source NHS GMS was added to MTM1.
Mode of inheritance for gene MTM1 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 v2.9 MED13L Arina Puzriakova Source Expert Review Green was added to MED13L.
Source NHS GMS was added to MED13L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 LTBP3 Arina Puzriakova Source NHS GMS was added to LTBP3.
Mode of inheritance for gene LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 LARS2 Arina Puzriakova Source Expert Review Green was added to LARS2.
Source NHS GMS was added to LARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 KIDINS220 Arina Puzriakova Source NHS GMS was added to KIDINS220.
Fetal anomalies v2.9 HSF4 Arina Puzriakova Source NHS GMS was added to HSF4.
Mode of inheritance for gene HSF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 GRIN1 Arina Puzriakova Source NHS GMS was added to GRIN1.
Mode of inheritance for gene GRIN1 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
Fetal anomalies v2.9 FBN2 Arina Puzriakova Source NHS GMS was added to FBN2.
Mode of inheritance for gene FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 EHBP1L1 Arina Puzriakova Source Expert Review Green was added to EHBP1L1.
Source NHS GMS was added to EHBP1L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 EDNRB Arina Puzriakova Source NHS GMS was added to EDNRB.
Mode of inheritance for gene EDNRB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.9 EDA Arina Puzriakova Source Expert Review Red was added to EDA.
Source NHS GMS was added to EDA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v2.9 DPH1 Arina Puzriakova Source Expert Review Green was added to DPH1.
Source NHS GMS was added to DPH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 DMPK Arina Puzriakova Source Expert Review Red was added to DMPK.
Source NHS GMS was added to DMPK.
Mode of inheritance for gene DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v2.9 CYP11B1 Arina Puzriakova Source NHS GMS was added to CYP11B1.
Mode of inheritance for gene CYP11B1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.9 CYP11A1 Arina Puzriakova Source NHS GMS was added to CYP11A1.
Mode of inheritance for gene CYP11A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 CRYBB3 Arina Puzriakova Source NHS GMS was added to CRYBB3.
Mode of inheritance for gene CRYBB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 COL6A3 Arina Puzriakova Source NHS GMS was added to COL6A3.
Mode of inheritance for gene COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 COL6A1 Arina Puzriakova Source NHS GMS was added to COL6A1.
Mode of inheritance for gene COL6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 COL1A2 Arina Puzriakova Source NHS GMS was added to COL1A2.
Mode of inheritance for gene COL1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v2.9 CLPB Arina Puzriakova Source NHS GMS was added to CLPB.
Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 CLCN7 Arina Puzriakova Source NHS GMS was added to CLCN7.
Mode of inheritance for gene CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 BHLHA9 Arina Puzriakova Source NHS GMS was added to BHLHA9.
Mode of inheritance for gene BHLHA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.9 ATAD3A Arina Puzriakova Source NHS GMS was added to ATAD3A.
Mode of inheritance for gene ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 AP1S2 Arina Puzriakova Source NHS GMS was added to AP1S2.
Mode of inheritance for gene AP1S2 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 v2.8 KIF21A Hannah Robinson gene: KIF21A was added
gene: KIF21A was added to Fetal anomalies. Sources: Literature,NHS GMS
Mode of inheritance for gene: KIF21A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF21A were set to 34740919
Phenotypes for gene: KIF21A were set to Arthrogryposis; fetal akinesia
Penetrance for gene: KIF21A were set to unknown
Review for gene: KIF21A was set to GREEN
gene: KIF21A was marked as current diagnostic
Added comment: Falb et al 2023 (PMID: 34740919) describe two unrelated families in which biallelic loss of function variants segregated with a severe form of fetal akinesia characterised by arthrogryposis multiplex, pulmonary hypoplasia and variable facial dysmorphisms.

Exeter Genomics Laboratory has identified an unrelated third case homozygous for a nonsense variant in KIF21A. The patient had an antenatal diagnosis of talipes, arthrogryposis, polyhydramnios and lack of fetal movements. At birth, all joints displayed fixed flexion deformities, no primitive reflexes, poor muscle bulk and care was re-oriented shortly after birth.

Taken together, three unrelated cases including segregation evidence in the published families provides sufficient evidence for the gene-disease association.
Sources: Literature, NHS GMS
Fetal anomalies v2.8 TUBB2B Arina Puzriakova Phenotypes for gene: TUBB2B were changed from POLYMICROGYRIA ASYMMETRIC to Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Fetal anomalies v2.7 PAFAH1B1 Arina Puzriakova Phenotypes for gene: PAFAH1B1 were changed from LISSENCEPHALY TYPE 1; SUBCORTICAL BAND HETEROTOPIA to Lissencephaly 1, OMIM:607432; Subcortical laminar heterotopia, OMIM:607432
Fetal anomalies v2.6 DCX Arina Puzriakova Phenotypes for gene: DCX were changed from SUBCORTICAL BAND HETEROTOPIA X-LINKED; LISSENCEPHALY X-LINKED TYPE 1 to Lissencephaly, X-linked, OMIM:300067; Subcortical laminal heterotopia, X-linked, OMIM:300067
Fetal anomalies v2.5 DDX3X Arina Puzriakova Phenotypes for gene: DDX3X were changed from INTELLECTUAL DIABILITY; Intellectual disability; Mental retardation, X-linked 102, 300958 to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958
Fetal anomalies v2.4 COX10 Arina Puzriakova Phenotypes for gene: COX10 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY; LEIGH SYNDROME to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Fetal anomalies v2.3 CHRNE Arina Puzriakova Phenotypes for gene: CHRNE were changed from Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 to Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809; Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
Fetal anomalies v2.2 SHOX Arina Puzriakova Phenotypes for gene: SHOX were changed from LANGER MESOMELIC DYSPLASIA; LERI-WEILL DYSCHONDROSTEOSIS to Langer mesomelic dysplasia, OMIM:249700 (PR); Leri-Weill dyschondrosteosis, OMIM:127300 (PD); Short stature, idiopathic familial, OMIM:300582
Fetal anomalies v2.1 GRM1 Zornitza Stark reviewed gene: GRM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13 MIM#614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.1 Eleanor Williams Panel version 2.0 has been signed off on 2022-11-30
Fetal anomalies v2.0 Eleanor Williams promoted panel to version 2.0
Fetal anomalies v1.993 Eleanor Williams List of related panels changed from R21; Fetal anomalies with a likely genetic cause to R21; Fetal anomalies with a likely genetic cause; Fetal anomalies with a likely genetic cause - non urgent; R412
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Fetal anomalies v1.992 TAB2 Arina Puzriakova Phenotypes for gene: TAB2 were changed from CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 to Congenital heart defects, nonsyndromic, 2, OMIM:614980
Fetal anomalies v1.991 PRIM1 Eleanor Williams commented on gene: PRIM1
Fetal anomalies v1.991 PRIM1 Eleanor Williams Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Microcephalic primordial dwarfism, MONDO:0017950; Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005
Fetal anomalies v1.990 PRIM1 Eleanor Williams Tag gene-checked was removed from gene: PRIM1.
Fetal anomalies v1.990 FAM126A Eleanor Williams commented on gene: FAM126A
Fetal anomalies v1.990 FAM126A Eleanor Williams Tag new-gene-name tag was added to gene: FAM126A.
Fetal anomalies v1.990 KDM5C Arina Puzriakova Phenotypes for gene: KDM5C were changed from MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED to Mental retardation, X-linked, syndromic, Claes-Jensen type, OMIM:300534
Fetal anomalies v1.989 KDM5C Arina Puzriakova Publications for gene: KDM5C were set to
Fetal anomalies v1.988 KDM5C Arina Puzriakova Added comment: Comment on mode of inheritance: A subset of female carriers have been shown to have impaired intellectual development and/or developmental delay (PMIDs: 10982473; 16538222; 18697827; 19826449; 21575681; 32279304) showing that females can be symptomatic.

Therefore, the MOI should be updated from 'X-linked.. biallelic in females' to 'X-linked.. monoallelic in females may cause disease' at the next GMS panel update. This also reflects the current MOI on all other relevant panels.
Fetal anomalies v1.988 KDM5C Arina Puzriakova Mode of inheritance for gene: KDM5C was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.987 KDM5C Arina Puzriakova Tag Q4_22_MOI tag was added to gene: KDM5C.
Fetal anomalies v1.987 HBA2 Arina Puzriakova Phenotypes for gene: HBA2 were changed from Fetal hydrops; Thalassemia, alpha-, 604131 to Thalassemias, alpha-, OMIM:604131; Fatal hydrops fetalis; Hb Bart syndrome
Fetal anomalies v1.986 HBA1 Arina Puzriakova Phenotypes for gene: HBA1 were changed from Fetal hydrops; Thalassemia, alpha-, 604131 to Thalassemias, alpha-, OMIM:604131; Fatal hydrops fetalis; Hb Bart syndrome
Fetal anomalies v1.985 GRM1 Arina Puzriakova Phenotypes for gene: GRM1 were changed from CONGENITAL CEREBELLAR ATAXIA to Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831
Fetal anomalies v1.984 GDF1 Arina Puzriakova Phenotypes for gene: GDF1 were changed from Congenital heart defects, multiple types; Right atrial isomerism (Ivemark) to Congenital heart defects, multiple types, 6, OMIM:613854; Right atrial isomerism (Ivemark), OMIM:208530
Fetal anomalies v1.983 GATM Arina Puzriakova Phenotypes for gene: GATM were changed from ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY to Cerebral creatine deficiency syndrome 3, OMIM:612718
Fetal anomalies v1.982 FBLN5 Arina Puzriakova Phenotypes for gene: FBLN5 were changed from Cutis laxa 614434; Cutis laxa 219100 to ?Cutis laxa, autosomal dominant 2, OMIM:614434; Cutis laxa, autosomal recessive, type IA, OMIM:219100
Fetal anomalies v1.981 ADAR Arina Puzriakova Phenotypes for gene: ADAR were changed from DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1; AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE to Aicardi-Goutieres syndrome 6, OMIM:615010; Dyschromatosis symmetrica hereditaria, OMIM:127400
Fetal anomalies v1.980 EDA Eleanor Williams Tag Q3_22_expert_review was removed from gene: EDA.
Fetal anomalies v1.980 EDA Eleanor Williams Tag Q3_22_expert_review tag was added to gene: EDA.
Fetal anomalies v1.980 GNAS Sarah Leigh Phenotypes for gene: GNAS were changed from Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ib, OMIM:603233; pseudohypoparathyroidism type 1B, MONDO:0011301; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:0012911; McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168; Osseous heteroplasia, progressive, OMIM:166350; ACTH-independent macronodular adrenal hyperplasia. OMIM:219080; ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735; Pseudopseudohypoparathyroidism, OMIM:612463; pseudopseudohypoparathyroidism, MONDO:0012912 to Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ib, OMIM:603233; pseudohypoparathyroidism type 1B, MONDO:0011301; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:0012911; McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168; Osseous heteroplasia, progressive, OMIM:166350; progressive osseous heteroplasia, MONDO:0008153; ACTH-independent macronodular adrenal hyperplasia. OMIM:219080; ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735; Pseudopseudohypoparathyroidism, OMIM:612463; pseudopseudohypoparathyroidism, MONDO:0012912
Fetal anomalies v1.979 DMPK Eleanor Williams Tag Q3_21_expert_review tag was added to gene: DMPK.
Fetal anomalies v1.979 GNAS Sarah Leigh Added comment: Comment on mode of inheritance: Disease causing variants in the GNAS locus have differing expression panels. Pseudohypothyroidism Ia, Ib & Ic are all caused by GNAS variants arising in the maternal alleles, therefore, the mode of inheritance (MOI) for GNAS in these conditions should be monoallelic maternally imprinted. Pseudopseudohypoparathyroidism, OMIM:612463 and Osseous heteroplasia, progressive, OMIM:166350 are associated with variants in the paternal alleles therefore, the mode of inheritance for GNAS in these conditions should be monoallelic paternally imprinted. Because the Fetal anomalies panel is representing various phenotypes, the MOI has been set to monoallelic, imprinted status unknown.
Fetal anomalies v1.979 GNAS Sarah Leigh Mode of inheritance for gene: GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.978 GNAS Sarah Leigh Phenotypes for gene: GNAS were changed from GNAS HYPERFUNCTION; ALBRIGHT HEREDITARY OSTEODYSTROPHY; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; PSEUDOHYPOPARATHYROIDISM TYPE 1B to Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ib, OMIM:603233; pseudohypoparathyroidism type 1B, MONDO:0011301; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:0012911; McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168; Osseous heteroplasia, progressive, OMIM:166350; ACTH-independent macronodular adrenal hyperplasia. OMIM:219080; ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735; Pseudopseudohypoparathyroidism, OMIM:612463; pseudopseudohypoparathyroidism, MONDO:0012912
Fetal anomalies v1.977 AP1S2 Arina Puzriakova changed review comment from: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles.

As no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline.; to: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles.

As it is not known definitively whether females require a variant on each allele of this gene in order to be affected, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease).
Fetal anomalies v1.977 ROR2 Arina Puzriakova Phenotypes for gene: ROR2 were changed from ROR2-RELATED DISORDERS AR; BRACHYDACTYLY, TYPE B1; ROBINOW SYNDROME, AUTOSOMAL DOMINANT to Brachydactyly, type B1, OMIM:113000 (AD); Robinow syndrome, autosomal recessive, OMIM:268310 (AR)
Fetal anomalies v1.976 COL1A2 Eleanor Williams Tag Q3_22_expert_review tag was added to gene: COL1A2.
Fetal anomalies v1.976 TGFB1 Arina Puzriakova Phenotypes for gene: TGFB1 were changed from CAMURATI-ENGELMANN DISEASE to Camurati-Engelmann disease, OMIM:131300
Fetal anomalies v1.975 DSP Arina Puzriakova Phenotypes for gene: DSP were changed from Arrhythmogenic right ventricular dysplasia 8 607450; Keratosis palmoplantaris striata II, 612908; Cardiomyopathy, dilated, with woolly hair and keratoderma 605676; Skin fragility-woolly hair syndrome 607655; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821; Epidermolysis bullosa, lethal acantholytic 609638 to Epidermolysis bullosa, lethal acantholytic, OMIM:609638 (AR); Skin fragility-woolly hair syndrome, OMIM:607655 (AR); Keratosis palmoplantaris striata II, OMIM:612908 (AD); Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD); Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
Fetal anomalies v1.974 FOXP4 Eleanor Williams Tag Q2_21_rating tag was added to gene: FOXP4.
Tag Q2_21_expert_review tag was added to gene: FOXP4.
Fetal anomalies v1.974 SCUBE3 Eleanor Williams commented on gene: SCUBE3: Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)
Fetal anomalies v1.974 SCUBE3 Eleanor Williams Tag Q4_21_expert_review was removed from gene: SCUBE3.
Tag Q3_22_rating tag was added to gene: SCUBE3.
Tag Q3_22_expert_review tag was added to gene: SCUBE3.
Fetal anomalies v1.974 COL1A2 Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the MOI as both mono and biallelic for now, but only Ehlers-Danlos syndrome, cardiac valvular type is associated with biallelic variants and this does not seem relevant to the fetal panel. Recommendation to change to Monoallelic only, if the GMS groups agree.
Fetal anomalies v1.974 COL1A2 Eleanor Williams Mode of inheritance for gene: COL1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.973 COL1A2 Eleanor Williams Tag Q3_22_MOI tag was added to gene: COL1A2.
Fetal anomalies v1.973 TBC1D32 Sarah Leigh Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556
Fetal anomalies v1.972 RAX Sarah Leigh Phenotypes for gene: RAX were changed from MICROPHTHALMIA ISOLATED TYPE 3 to Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604
Fetal anomalies v1.971 RAX Sarah Leigh Publications for gene: RAX were set to
Fetal anomalies v1.970 ST3GAL3 Sarah Leigh Publications for gene: ST3GAL3 were set to
Fetal anomalies v1.969 ST3GAL3 Sarah Leigh Phenotypes for gene: ST3GAL3 were changed from MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 to Developmental and epileptic encephalopathy 15, OMIM:615006; developmental and epileptic encephalopathy, 15, MONDO:0014003; Intellectual developmental disorder, autosomal recessive 12, OMIM:611090; intellectual disability, autosomal recessive 12, MONDO:0012612
Fetal anomalies v1.968 SETD2 Arina Puzriakova Classified gene: SETD2 as Amber List (moderate evidence)
Fetal anomalies v1.968 SETD2 Arina Puzriakova Added comment: Comment on list classification: Following clinical review, it was agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update.
Fetal anomalies v1.968 SETD2 Arina Puzriakova Gene: setd2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.967 SETD2 Arina Puzriakova Mode of pathogenicity for gene: SETD2 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
Fetal anomalies v1.966 SETD2 Arina Puzriakova Phenotypes for gene: SETD2 were changed from SETD2-associated Overgrowth Syndrome to microcephaly; profound intellectual disability; congenital anomalies; dysmorphic facial features
Fetal anomalies v1.965 SETD2 Arina Puzriakova Publications for gene: SETD2 were set to
Fetal anomalies v1.964 SETD2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: SETD2.
Tag Q3_22_NHS_review tag was added to gene: SETD2.
Fetal anomalies v1.964 SETD2 Rhiannon Mellis reviewed gene: SETD2: 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: PMID: 32710489, 33255631; Phenotypes: microcephaly, profound intellectual disability, congenital anomalies, dysmorphic facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.964 POLG2 Arina Puzriakova Phenotypes for gene: POLG2 were changed from Mitochondrial DNA depletion syndrome 16 (hepatic type), OMIM:618528; Mitochondrial DNA depletion syndrome 16 (hepatic type), MONDO:0032799; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MONDO:0012415 to Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528; Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Fetal anomalies v1.963 UNC13D Arina Puzriakova Publications for gene: UNC13D were set to PMID: 33249554
Fetal anomalies v1.962 UNC13D Arina Puzriakova Classified gene: UNC13D as Amber List (moderate evidence)
Fetal anomalies v1.962 UNC13D Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.962 UNC13D Arina Puzriakova Gene: unc13d has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.961 TK2 Arina Puzriakova Phenotypes for gene: TK2 were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM to Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560
Fetal anomalies v1.960 TK2 Arina Puzriakova Classified gene: TK2 as Amber List (moderate evidence)
Fetal anomalies v1.960 TK2 Arina Puzriakova Added comment: Comment on list classification: Updated rating from Red to Amber inline with this recent Amber review by Rhiannon Mellis (GOSH), awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.960 TK2 Arina Puzriakova Gene: tk2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.959 TK2 Arina Puzriakova Tag watchlist tag was added to gene: TK2.
Fetal anomalies v1.959 THSD1 Arina Puzriakova Classified gene: THSD1 as Amber List (moderate evidence)
Fetal anomalies v1.959 THSD1 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.959 THSD1 Arina Puzriakova Gene: thsd1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.958 THSD1 Arina Puzriakova Publications for gene: THSD1 were set to PMID: 28749478; 26036949
Fetal anomalies v1.957 ST3GAL5 Arina Puzriakova Phenotypes for gene: ST3GAL5 were changed from AMISH INFANTILE EPILEPSY SYNDROME to Infantile epilepsy
Fetal anomalies v1.956 ST3GAL5 Arina Puzriakova Publications for gene: ST3GAL5 were set to
Fetal anomalies v1.955 SERPINA11 Arina Puzriakova Publications for gene: SERPINA11 were set to PMID: 31742715; 28749478
Fetal anomalies v1.954 SERPINA11 Arina Puzriakova Classified gene: SERPINA11 as Amber List (moderate evidence)
Fetal anomalies v1.954 SERPINA11 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.954 SERPINA11 Arina Puzriakova Gene: serpina11 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.953 PIGS Arina Puzriakova Publications for gene: PIGS were set to PMID: 30269814
Fetal anomalies v1.952 PIGS Arina Puzriakova Phenotypes for gene: PIGS were changed from Developmental and epileptic encephalopathy 95 to Developmental and epileptic encephalopathy 95, OMIM:618143
Fetal anomalies v1.951 PIGS Arina Puzriakova Classified gene: PIGS as Amber List (moderate evidence)
Fetal anomalies v1.951 PIGS Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.951 PIGS Arina Puzriakova Gene: pigs has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.950 NUP88 Arina Puzriakova Publications for gene: NUP88 were set to 30543681
Fetal anomalies v1.949 NONO Arina Puzriakova Tag watchlist tag was added to gene: NONO.
Fetal anomalies v1.949 NONO Arina Puzriakova Publications for gene: NONO were set to 32397791
Fetal anomalies v1.948 NDUFB10 Arina Puzriakova Phenotypes for gene: NDUFB10 were changed from Mitochondrial complex I deficiency to Mitochondrial complex I deficiency, nuclear type 35 , OMIM:619003
Fetal anomalies v1.947 NDUFB10 Arina Puzriakova Publications for gene: NDUFB10 were set to PMID: 31130284; 28040730
Fetal anomalies v1.946 NDUFB10 Arina Puzriakova Classified gene: NDUFB10 as Amber List (moderate evidence)
Fetal anomalies v1.946 NDUFB10 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.946 NDUFB10 Arina Puzriakova Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.945 MYBPC3 Arina Puzriakova Classified gene: MYBPC3 as Amber List (moderate evidence)
Fetal anomalies v1.945 MYBPC3 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype.

Note that the two fetal cases reported in literature harboured homozygous variants (PMID:19858127; 28749478) although expert reviewer suggests an MOI of 'both mono- and biallelic'
Fetal anomalies v1.945 MYBPC3 Arina Puzriakova Gene: mybpc3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.944 MYBPC3 Arina Puzriakova Publications for gene: MYBPC3 were set to PMID: 28749478; 19858127
Fetal anomalies v1.943 MRPS16 Arina Puzriakova Publications for gene: MRPS16 were set to PMID: 28749478
Fetal anomalies v1.942 MRPS16 Arina Puzriakova Classified gene: MRPS16 as Amber List (moderate evidence)
Fetal anomalies v1.942 MRPS16 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.942 MRPS16 Arina Puzriakova Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.941 MANBA Arina Puzriakova Publications for gene: MANBA were set to
Fetal anomalies v1.940 LOX Arina Puzriakova Publications for gene: LOX were set to PMID: 31742715
Fetal anomalies v1.939 LOX Arina Puzriakova Classified gene: LOX as Amber List (moderate evidence)
Fetal anomalies v1.939 LOX Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.939 LOX Arina Puzriakova Gene: lox has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.938 FTO Arina Puzriakova Publications for gene: FTO were set to PMID: 31130284; 19559399; 26378117
Fetal anomalies v1.937 FTO Arina Puzriakova Classified gene: FTO as Amber List (moderate evidence)
Fetal anomalies v1.937 FTO Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.937 FTO Arina Puzriakova Gene: fto has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.936 FOXP2 Arina Puzriakova Phenotypes for gene: FOXP2 were changed from SPEECH-LANGUAGE DISORDER 1 to Speech-language disorder-1, OMIM:602081; Structural abnormalities of basal ganglia
Fetal anomalies v1.935 FOXP2 Arina Puzriakova Publications for gene: FOXP2 were set to
Fetal anomalies v1.934 ENG Arina Puzriakova Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 to Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300
Fetal anomalies v1.933 ENG Arina Puzriakova Classified gene: ENG as Amber List (moderate evidence)
Fetal anomalies v1.933 ENG Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.933 ENG Arina Puzriakova Gene: eng has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.932 EDA Arina Puzriakova Classified gene: EDA as Green List (high evidence)
Fetal anomalies v1.932 EDA Arina Puzriakova Added comment: Comment on list classification: This gene should be demoted from Green to Red at the next GMS panel update in line with the recent Red review by Rhiannon Mellis (GOSH).
Fetal anomalies v1.932 EDA Arina Puzriakova Gene: eda has been classified as Green List (High Evidence).
Fetal anomalies v1.931 EDA Arina Puzriakova Phenotypes for gene: EDA were changed from TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1; ECTODERMAL DYSPLASIA TYPE 1 to Ectodermal dysplasia 1, hypohidrotic, X-linked, OMIM:305100
Fetal anomalies v1.930 EDA Arina Puzriakova Tag Q3_22_rating tag was added to gene: EDA.
Tag Q3_22_NHS_review tag was added to gene: EDA.
Fetal anomalies v1.930 DEPDC5 Arina Puzriakova Classified gene: DEPDC5 as Amber List (moderate evidence)
Fetal anomalies v1.930 DEPDC5 Arina Puzriakova Added comment: Comment on list classification: Updated rating from Red to Amber inline with this recent Amber review by Rhiannon Mellis (GOSH), awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.930 DEPDC5 Arina Puzriakova Gene: depdc5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.929 DEPDC5 Arina Puzriakova Publications for gene: DEPDC5 were set to
Fetal anomalies v1.928 DEPDC5 Arina Puzriakova Phenotypes for gene: DEPDC5 were changed from FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI to Epilepsy; Structural brain malformations
Fetal anomalies v1.927 DEPDC5 Arina Puzriakova Mode of inheritance for gene: DEPDC5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.926 CHRM3 Arina Puzriakova Publications for gene: CHRM3 were set to 22077972; 31441039; 10944224
Fetal anomalies v1.925 CHRM3 Arina Puzriakova Classified gene: CHRM3 as Amber List (moderate evidence)
Fetal anomalies v1.925 CHRM3 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.925 CHRM3 Arina Puzriakova Gene: chrm3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.924 CHRM3 Arina Puzriakova Phenotypes for gene: CHRM3 were changed from Prune belly syndrome; Megacystis to Prune belly syndrome, OMIM:100100; Megacystis
Fetal anomalies v1.923 CHRM3 Arina Puzriakova Publications for gene: CHRM3 were set to PMID: 22077972; 31441039; 10944224
Fetal anomalies v1.922 CACNA1S Arina Puzriakova Publications for gene: CACNA1S were set to PMID: 33060286; 28012042
Fetal anomalies v1.921 CACNA1S Arina Puzriakova Classified gene: CACNA1S as Amber List (moderate evidence)
Fetal anomalies v1.921 CACNA1S Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.921 CACNA1S Arina Puzriakova Gene: cacna1s has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.920 CACNA1D Arina Puzriakova Mode of pathogenicity for gene: CACNA1D 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
Fetal anomalies v1.919 CACNA1D Arina Puzriakova Mode of inheritance for gene: CACNA1D was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.918 CACNA1D Arina Puzriakova Publications for gene: CACNA1D were set to
Fetal anomalies v1.917 CACNA1D Arina Puzriakova Phenotypes for gene: CACNA1D were changed from PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; SINOATRIAL NODE DYSFUNCTION AND DEAFNESS to Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474
Fetal anomalies v1.916 C1QBP Arina Puzriakova Phenotypes for gene: C1QBP were changed from Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies to Combined oxidative phosphorylation deficiency 33, OMIM:617713; Cardiomyopathy; Myopathy; Metabolic acidosis; Ologohydramnios
Fetal anomalies v1.915 C1QBP Arina Puzriakova Publications for gene: C1QBP were set to
Fetal anomalies v1.914 ASXL3 Arina Puzriakova Phenotypes for gene: ASXL3 were changed from BAINBRIDGE-ROPERS SYNDROME to Bainbridge-Ropers syndrome, OMIM:615485; Arthrogryposis
Fetal anomalies v1.913 ASXL3 Arina Puzriakova Publications for gene: ASXL3 were set to
Fetal anomalies v1.912 ASPH Arina Puzriakova Publications for gene: ASPH were set to
Fetal anomalies v1.911 AGT Arina Puzriakova Classified gene: AGT as Amber List (moderate evidence)
Fetal anomalies v1.911 AGT Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.911 AGT Arina Puzriakova Gene: agt has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.910 AGT Arina Puzriakova Publications for gene: AGT were set to PMID: 28976722
Fetal anomalies v1.909 AGT Arina Puzriakova Phenotypes for gene: AGT were changed from Renal dysgenesis to Renal tubular dysgenesis, OMIM:267430
Fetal anomalies v1.908 ACVRL1 Arina Puzriakova Publications for gene: ACVRL1 were set to
Fetal anomalies v1.907 ACVRL1 Arina Puzriakova Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 600376 to Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376
Fetal anomalies v1.906 ACVRL1 Arina Puzriakova Classified gene: ACVRL1 as Amber List (moderate evidence)
Fetal anomalies v1.906 ACVRL1 Arina Puzriakova Added comment: Comment on list classification: Updated rating from Red to Amber inline with this recent Amber review by Rhiannon Mellis (GOSH), awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.906 ACVRL1 Arina Puzriakova Gene: acvrl1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.905 WNT7B Arina Puzriakova Classified gene: WNT7B as Amber List (moderate evidence)
Fetal anomalies v1.905 WNT7B Arina Puzriakova Added comment: Comment on list classification: New gene added by Julia Baptista. There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Three families reported with fetuses with multiple congenital anomalies (PMID: 35790350). Biallelic variants were identified in probands of two families and parents in third family were both heterozygous for a variant found in one of the other families. Although the fetus was not available for testing, the genotype can be inferred as homozygous for the variant given the consistent phenotype between cases. Supportive zebrafish model supports pathogenicity.
Fetal anomalies v1.905 WNT7B Arina Puzriakova Gene: wnt7b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.904 WNT7B Arina Puzriakova Tag Q3_22_rating tag was added to gene: WNT7B.
Tag Q3_22_NHS_review tag was added to gene: WNT7B.
Fetal anomalies v1.904 RAB11A Eleanor Williams Classified gene: RAB11A as Amber List (moderate evidence)
Fetal anomalies v1.904 RAB11A Eleanor Williams Added comment: Comment on list classification: Leaving the rating as amber for now, but with a recommendation of GREEN rating following GMS expert review as to whether the brain anomaly/microcephaly phenotype observed in 5 individuals with missense variants in RAB11A is appropriate for this panel.
Fetal anomalies v1.904 RAB11A Eleanor Williams Gene: rab11a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.903 RAB11A Eleanor Williams Phenotypes for gene: RAB11A were changed from Epilepsy and intellectual disability to microcephaly, HP:0000252; brain anomalies; Intellectual disability, HP:0001249
Fetal anomalies v1.902 RAB11A Eleanor Williams Added comment: Comment on mode of pathogenicity: All missense variants but no functional data available.
Fetal anomalies v1.902 RAB11A Eleanor Williams Mode of pathogenicity for gene: RAB11A was changed from to Other
Fetal anomalies v1.901 RAB11A Eleanor Williams Publications for gene: RAB11A were set to
Fetal anomalies v1.900 RAB11A Eleanor Williams Tag Q3_22_rating tag was added to gene: RAB11A.
Tag Q3_22_expert_review tag was added to gene: RAB11A.
Fetal anomalies v1.900 RAB11A Eleanor Williams changed review comment from: PMID: 29100083 - Hamdan et al 2017 - performed WGS on 197 individuals with unexplained Developmental and epileptic encephalopathy and pharmaco-resistant seizures and in their unaffected parents. 2 patients reported with heterozygous missense variants in RAB11A, one of which had seizures (c.244C>T [p.Arg82Cys] variant)
in addition to developing severe ID. 2 other individuals with missense variants in RAB11A and some phenotypic data from the DDD project are described. For 3 of the 4 individuals there are brain MRI data which indicate brain abnormalities including partial agenesis of the corpus callosum, or thin corpus collosum.

PMID: 33875846 - Bertoli-Avella et al 2021 - in a large study of patients with no initial diagnostic variants identified by ES/GS, they identified two different heterozygous missense variants in RAB11A in two unrelated patients (NM_004663.4: c.375G>T, p. Lys125Asn and NM_004663.4: c.380A>G, p. Asp127Gly). Both are reported to have microcephaly (degree not stated) and brain anomalies (both with agenesis of corpus callosum, and one with additional abnormal cortical gyration, mylation abnormalites).; to: PMID: 29100083 - Hamdan et al 2017 - performed WGS on 197 individuals with unexplained Developmental and epileptic encephalopathy and pharmaco-resistant seizures and in their unaffected parents. 2 patients reported with heterozygous missense variants in RAB11A, one of which had seizures (c.244C>T [p.Arg82Cys] variant)
in addition to developing severe ID. 2 other individuals with missense variants in RAB11A and some phenotypic data from the DDD project are described. For 3 of the 4 individuals there are brain MRI data which indicate brain abnormalities including partial agenesis of the corpus callosum, or thin corpus collosum.

PMID: 33875846 - Bertoli-Avella et al 2021 - in a large study of patients with no initial diagnostic variants identified by ES/GS, they identified two different heterozygous missense variants in RAB11A in two unrelated patients (NM_004663.4: c.375G>T, p. Lys125Asn and NM_004663.4: c.380A>G, p. Asp127Gly). Both are reported to have microcephaly (degree not stated) and brain anomalies (both with agenesis of corpus callosum, and one with additional abnormal cortical gyration, myelination abnormalites).
Fetal anomalies v1.900 RAB11A Eleanor Williams commented on gene: RAB11A
Fetal anomalies v1.900 EDA Rhiannon Mellis reviewed gene: EDA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.900 CHRM3 Rhiannon Mellis gene: CHRM3 was added
gene: CHRM3 was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRM3 were set to PMID: 22077972; 31441039; 10944224
Phenotypes for gene: CHRM3 were set to Prune belly syndrome; Megacystis
Review for gene: CHRM3 was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Details of review:
Discussed as a potential cause of megacystis. Currently Red on Panelapp CAKUT panel (2016) because at that time there was only 1 reported family and a mouse model. The unpublished data mentioned in that panelapp review (from Adrian Woolf, Manchester) is now published so now 2 families PMID: 22077972; 31441039 plus a mouse model PMID: 10944224. However, prenatal findings (distended bladder and unilateral hydronephrosis) only documented for one individual. More evidence of prenatal phenotype would be helpful.
Sources: Expert Review, Literature
Fetal anomalies v1.900 DEPDC5 Rhiannon Mellis commented on gene: DEPDC5: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Currently rated Green on the following other PanelApp panel(s): Intellectual disability, Genetics epilepsies. Amber on cortical malformations panel.

Details of review:
Previously reviewed as Red because only associated with familial epilepsy without structural brain anomalies (AD - caused by het LOF variants) but data presented by Dr Lara Menzies at CGS Spring Meeting 2021 suggests that there may also be a biallelic phenotype with hypomorphic variants. 5 cases presented from 3 unrelated Irish traveller families with significant polymicrogyria and macrocephaly as well as seizures and severe dev delay. At least 2 of the cases had prenatal features: ventriculomegaly, macrocephaly and IUGR for one, polymicrogyria on MRI for another - fetal MRI done because of FHx of affected child. (Unpublished data)

Liu et al 2020 (PMID: 32848577) report one case with homozygous missense variants in this gene, who had focal cortical dysplasia and seizures from 3yo
Fetal anomalies v1.900 DEPDC5 Rhiannon Mellis reviewed gene: DEPDC5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32848577; Phenotypes: Epilepsy, Structural brain malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.900 ENG Rhiannon Mellis gene: ENG was added
gene: ENG was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1
Review for gene: ENG was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Details of review:
Consistency check because out of 4 known HHT genes EPHB4 and SMAD4 are on the fetal anomalies panel but ACVRL1 and ENG are not.

No specific published reports of ENG variants detected prenatally but correlates with pulmonary AVMs which can present neonatally and can be detected on prenatal US (PMID: 17719943; PMID: 21988128).
Sources: Expert Review, Literature
Fetal anomalies v1.900 ACVRL1 Rhiannon Mellis reviewed gene: ACVRL1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27381467, 32170914; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.900 TK2 Rhiannon Mellis reviewed gene: TK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.900 PIGS Rhiannon Mellis gene: PIGS was added
gene: PIGS was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to PMID: 30269814
Phenotypes for gene: PIGS were set to Developmental and epileptic encephalopathy 95
Review for gene: PIGS was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Details of review:
Currently red/amber on some other panels but reviewed on Congenital disorders of glycosylation panel as having sufficient evidence for green rating at next major review, in light of this same paper (PMID: 30269814). Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to intellectual disability/epileptic encephalopathy. Fetal akinesia phenotype may be relevant for fetal anomalies panel.
Sources: Expert Review, Literature
Fetal anomalies v1.900 MRPS16 Rhiannon Mellis gene: MRPS16 was added
gene: MRPS16 was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS16 were set to PMID: 28749478
Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2
Review for gene: MRPS16 was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Details of review:
Amber on mitochondrial/inborn errors of metabolism etc. Not Green on any panel. One previous case reported with "agenesis of the corpus callosum, dysmorphism, and fatal neonatal lactic acidosis. The patient was small at birth, with dysmorphic facies, low-set ears, nonpitting edema of the limbs, brachydactyly, and redundant skin over the neck. She died of intractable metabolic acidosis at age 3 days." PMID:15505824 (2004).

One further fetal case reported by Shamseldin et al. 2018 (PMID: 28749478) with hydrops, very short long bones, and partial ACC
Sources: Expert Review, Literature
Fetal anomalies v1.900 THSD1 Rhiannon Mellis gene: THSD1 was added
gene: THSD1 was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: THSD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THSD1 were set to PMID: 28749478; 26036949
Phenotypes for gene: THSD1 were set to Intracerebral aneurysms; ?Hydrops fetalis
Review for gene: THSD1 was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene pending more evidence.

Details of review:
Not currently Green on any panels. Amber on Cerebral vascular malformations. (Heterozygous mutations identified in nine families with intracerebral aneurysms plus animal models but unclear on penetrance.)

Shamseldin et al 2018 (PMID: 28749478) report a fetal case with hydrops and a HOMOZYGOUS likely pathogenic variant in THSD1. The same group previously identified this same founder mutation in THSD1 in another 3 families with hydrops/oedema (PMID: 26036949)
Sources: Expert Review, Literature
Fetal anomalies v1.900 MYBPC3 Rhiannon Mellis gene: MYBPC3 was added
gene: MYBPC3 was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: MYBPC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: MYBPC3 were set to PMID: 28749478; 19858127
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy; ?Congenital myopathy
Review for gene: MYBPC3 was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene pending more evidence.

Currently rated Green on the following other PanelApp panel(s): Various cardiomyopathy panels. Amber on congenital myopathy panel.

Details of review:
Previously only one (AR) case with skeletal muscle phenotype, although is a known cardiomyopathy gene (PMID: 19858127). One fetal case reported by Shamseldin et al 2018 (PMID: 28749478) with hydrops.
Sources: Expert Review, Literature
Fetal anomalies v1.900 NUP88 Rhiannon Mellis reviewed gene: NUP88: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33060286; Phenotypes: fetal akinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.900 CACNA1S Rhiannon Mellis gene: CACNA1S was added
gene: CACNA1S was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: CACNA1S was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1S were set to PMID: 33060286; 28012042
Phenotypes for gene: CACNA1S were set to Congenital myopathy; arthrogryposis
Review for gene: CACNA1S was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Details of review:
Previously only monoallelic variants reported associated with malignant hyperthermia and periodic paralysis but more recently biallelic variants have been associated with congenital myopathy. In Ravenscroft et al 2020 (PMID: 33060286) the reported biallelic variants were VUS but strong suspicion of causality: the proband had polyhydramnios, scalp oedema, bilateral wrist contractures, bilateral talipes and reduced fetal movements, ToP at 26/40. Mild facial dysmorphic features were noted on autopsy, including low anterior hairline, mild hypertelorism and moderate retrognathia. A previous pregnancy was affected with polyhydramnios and reduced fetal movements, delivered at 32/40 due to placental abruption and died at 10 days. On photos the baby had ptosis and broad nasal tip. The biallelic variants segregated within the family (parents and the 2 unaffected sibs all het). No cell lines available for functional studies.
Another study (PMID: 28012042) reports 7 families with congenital myopathy and CACNA1S mutations (both recessive and dominant), of whom 3 had cases with antenatal onset (reduced fetal movements).
Sources: Expert Review, Literature
Fetal anomalies v1.900 NDUFB10 Rhiannon Mellis gene: NDUFB10 was added
gene: NDUFB10 was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB10 were set to PMID: 31130284; 28040730
Phenotypes for gene: NDUFB10 were set to Mitochondrial complex I deficiency
Review for gene: NDUFB10 was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Details of review:
Not Green on any other panels (Amber/Red because only 1 case reported, with functional studies). Causes Mitochondrial complex 1 deficiency.
One fetal case reported by Monies et al 2019 (PMID: 31130284) with Non-immune hydrops fetalis and died after birth.
The previous reported case on OMIM (from PMID: 28040730) was a female infant with IUGR, hydrops, lung hypoplasia and fetal cardiomyopathy - neonatal death with rapidly progressive lactic acidosis and PM found decreased complex 1 activity in skeletal muscle, heart, liver. Previous child of parents also had hydrops and died on day 1 of life.
Sources: Expert Review, Literature
Fetal anomalies v1.900 FTO Rhiannon Mellis gene: FTO was added
gene: FTO was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FTO were set to PMID: 31130284; 19559399; 26378117
Phenotypes for gene: FTO were set to Growth retardation, developmental delay, facial dysmorphism
Review for gene: FTO was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Details of review:
Not Green on any panels (only 2 families reported to date). On OMIM: Growth retardation, developmental delay, facial dysmorphism. One fetal case reported by Monies et al 2019 (PMID: 31130284) with Dandy-Walker malformation, IUGR, and polyhydramnios. This fits with the phenotype reported in one consanguineous family with 9 affected individuals reported by Boissel 2009 PMID: 19559399. The other reported case is PMID: 26378117 - a homozygous missense variant in FTO was identified in a 21-month old girl who presented with growth retardation, failure to thrive, severely delayed development, Dysmorphic facial features, decreased brain parenchyma, delayed myelination, and a thin corpus callosum.
Sources: Expert Review, Literature
Fetal anomalies v1.900 CACNA1D Rhiannon Mellis reviewed gene: CACNA1D: Rating: ; 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: PMID: 32410215; Phenotypes: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.900 ASXL3 Rhiannon Mellis edited their review of gene: ASXL3: Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but still limited evidence, support keeping as Amber gene for now.

Details of review:
Previously reviewed as Amber as 2 fetal cases in literature: one from PMID: 32565546 with short CC and metopic synostosis, one from PMID: 29316359 with distal arthrogryposis and cerebellar vermian hypoplasia. Now there is one more fetal case reported with arthrogryposis - PMID: 33820833; Changed publications to: PMID: 33820833; Changed phenotypes to: Arthrogryposis
Fetal anomalies v1.900 NONO Rhiannon Mellis reviewed gene: NONO: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31680349; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.900 FOXP2 Rhiannon Mellis reviewed gene: FOXP2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28976722; Phenotypes: Speech-language disorder, structural abnormalities of basal ganglia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.900 AGT Rhiannon Mellis gene: AGT was added
gene: AGT was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGT were set to PMID: 28976722
Phenotypes for gene: AGT were set to Renal dysgenesis
Review for gene: AGT was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene pending more evidence.

Currently rated Green on the following other PanelApp panel(s): CAKUT and unexplained kidney failure in young people

Details of review:
Fu et al 2018 (PMID: 28976722) report one fetal case with Right multicystic dysplastic kidney
Sources: Literature, Expert Review
Fetal anomalies v1.900 ASPH Rhiannon Mellis reviewed gene: ASPH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28976722; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.900 ST3GAL5 Rhiannon Mellis reviewed gene: ST3GAL5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28976722; Phenotypes: Infantile epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.900 MANBA Rhiannon Mellis reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33249554; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.900 UNC13D Rhiannon Mellis gene: UNC13D was added
gene: UNC13D was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC13D were set to PMID: 33249554
Phenotypes for gene: UNC13D were set to Pancytopenia; ?Hydrops fetalis
Review for gene: UNC13D was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Currently rated Green on the following other PanelApp panel(s): primary immunodeficiency

Details of review:
One fetal case reported in Diderich et al 2020 (PMID: 33249554) with hydrops, presumed secondary to fetal anaemia.
Sources: Literature, Expert Review
Fetal anomalies v1.900 C1QBP Rhiannon Mellis reviewed gene: C1QBP: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32304219; Phenotypes: Combined oxidative phosphorylation deficiency 33, Cardiomyopathy, Myopathy, Metabolic acidosis, Ologohydramnios; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.900 SERPINA11 Rhiannon Mellis gene: SERPINA11 was added
gene: SERPINA11 was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: SERPINA11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINA11 were set to PMID: 31742715; 28749478
Phenotypes for gene: SERPINA11 were set to ?Hydrops fetalis
Review for gene: SERPINA11 was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene to watch for further evidence.

Not currently rated Green on any other PanelApp panel(s).

Details of review:
No OMIM disease association currently. Reported as a novel genotype-phenotype association in Aggarwal 2020 (PMID: 31742715) in a fetus with homozygous nonsense variant. Fetus presented with pericardial effusion and on post-mortem was found to have serous cavity effusions, and generalised blebs of gelatinous material on the visceral surfaces. Histopathology and stains showed derangement of ECM and collagen fibres. Consanguineous couple with one similarly affected previous pregnancy. This gene is also reported in Shamseldin et al 2018 (PMID: 28749478) as a candidate gene in a fetus with hydrops.
Sources: Expert Review, Literature
Fetal anomalies v1.900 LOX Rhiannon Mellis gene: LOX was added
gene: LOX was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: LOX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LOX were set to PMID: 31742715
Phenotypes for gene: LOX were set to Aortopathy
Review for gene: LOX was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Currently rated Green on the following other PanelApp panel(s): familial thoracic aortic aneurysm

Details of review:
Reported as a novel genotype-phenotype association in Aggarwal et al 2020 (PMID: 31742715), in a fetus with homozygous missense variants. Heterozygous variants in this gene are known to cause thoracic aortic aneurysm. The fetus presented with unexplained IUD and on post-mortem had: Excessive skin folds, emphysematous bullae on lung surface, Facial dysmorphism, distal joint contractures, internal haemorrhages. Histopathology and special stains confirmed degradation of collagen and elastin in the aorta, pleura and skin. If we are going to add to panel suggest putting MOI as biallelic only (and accept that this would be an incidental finding for carrier parents that would lead to them needing monitoring for aortic aneurysm)
Sources: Expert Review, Literature
Fetal anomalies v1.900 TMEM70 Arina Puzriakova Publications for gene: TMEM70 were set to
Fetal anomalies v1.899 TMEM70 Arina Puzriakova Phenotypes for gene: TMEM70 were changed from MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 to IUGR; Oligohydramnios; Anhydramnios; Cardiomyopathy
Fetal anomalies v1.898 TMEM70 Arina Puzriakova Classified gene: TMEM70 as Amber List (moderate evidence)
Fetal anomalies v1.898 TMEM70 Arina Puzriakova Added comment: Comment on list classification: Following clinical review, it was agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update.
Fetal anomalies v1.898 TMEM70 Arina Puzriakova Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.897 TMEM70 Arina Puzriakova Tag Q3_22_rating tag was added to gene: TMEM70.
Tag Q3_22_NHS_review tag was added to gene: TMEM70.
Fetal anomalies v1.897 SPTA1 Arina Puzriakova changed review comment from: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber in with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype (added watchlist tag); to: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype (added watchlist tag)
Fetal anomalies v1.897 SPTA1 Arina Puzriakova Classified gene: SPTA1 as Amber List (moderate evidence)
Fetal anomalies v1.897 SPTA1 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber in with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype (added watchlist tag)
Fetal anomalies v1.897 SPTA1 Arina Puzriakova Gene: spta1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.896 SPTA1 Arina Puzriakova Publications for gene: SPTA1 were set to PMID: 34132406; PMID: 31333484
Fetal anomalies v1.895 SPTA1 Arina Puzriakova Tag watchlist tag was added to gene: SPTA1.
Fetal anomalies v1.895 PLOD3 Arina Puzriakova Publications for gene: PLOD3 were set to PMID: 18834968; PMID: 33743358
Fetal anomalies v1.894 PLOD3 Arina Puzriakova Classified gene: PLOD3 as Amber List (moderate evidence)
Fetal anomalies v1.894 PLOD3 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber in view of two unrelated cases presenting with a fetal phenotype reported to date.
Fetal anomalies v1.894 PLOD3 Arina Puzriakova Gene: plod3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.893 PLOD3 Arina Puzriakova Phenotypes for gene: PLOD3 were changed from Lysyl hydroxylase 3 deficiency; IUGR; Contractures to Lysyl hydroxylase 3 deficiency, OMIM:612394; IUGR; Contractures
Fetal anomalies v1.892 PLD1 Arina Puzriakova Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, OMIM:212093 to Cardiac valvular defect, developmental, OMIM:212093; Cardiomyopathy; Congenital heart malformations
Fetal anomalies v1.891 PLD1 Arina Puzriakova Publications for gene: PLD1 were set to 27799408; 33645542
Fetal anomalies v1.890 PLD1 Arina Puzriakova Tag Q3_22_NHS_review tag was added to gene: PLD1.
Fetal anomalies v1.890 NMNAT2 Arina Puzriakova Publications for gene: NMNAT2 were set to 31136762; 31132363; 23082226
Fetal anomalies v1.889 NEXN Arina Puzriakova Phenotypes for gene: NEXN were changed from Cardiomyopathy to Cardiomyopathy, dilated, 1CC, OMIM:613122; Cardiomyopathy, hypertrophic, 20, OMIM:613876
Fetal anomalies v1.888 NEXN Arina Puzriakova Publications for gene: NEXN were set to PMID: 32058062; PMID: 33027564
Fetal anomalies v1.887 NEXN Arina Puzriakova Classified gene: NEXN as Amber List (moderate evidence)
Fetal anomalies v1.887 NEXN Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber in view of two unrelated cases presenting with a fetal phenotype reported to date (added watchlist tag).
Fetal anomalies v1.887 NEXN Arina Puzriakova Gene: nexn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.886 NEXN Arina Puzriakova Tag watchlist tag was added to gene: NEXN.
Fetal anomalies v1.886 NDUFB11 Arina Puzriakova Classified gene: NDUFB11 as Amber List (moderate evidence)
Fetal anomalies v1.886 NDUFB11 Arina Puzriakova Added comment: Comment on list classification: Following clinical review, it was agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update.
Fetal anomalies v1.886 NDUFB11 Arina Puzriakova Gene: ndufb11 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.885 NDUFB11 Arina Puzriakova Publications for gene: NDUFB11 were set to
Fetal anomalies v1.884 NDUFB11 Arina Puzriakova Phenotypes for gene: NDUFB11 were changed from MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME to Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Cardiomyopathy; Agenesis of corpus callosum (ACC)
Fetal anomalies v1.883 NDUFB11 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFB11.
Tag Q3_22_NHS_review tag was added to gene: NDUFB11.
Fetal anomalies v1.883 MED13L Arina Puzriakova Publications for gene: MED13L were set to
Fetal anomalies v1.882 MED13L Arina Puzriakova Tag Q3_22_rating tag was added to gene: MED13L.
Tag Q3_22_NHS_review tag was added to gene: MED13L.
Fetal anomalies v1.882 MED13L Arina Puzriakova Phenotypes for gene: MED13L were changed from INTELLECTUAL DISABILITY to Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789
Fetal anomalies v1.881 MED13L Arina Puzriakova Classified gene: MED13L as Amber List (moderate evidence)
Fetal anomalies v1.881 MED13L Arina Puzriakova Added comment: Comment on list classification: Following clinical review, it was agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update.
Fetal anomalies v1.881 MED13L Arina Puzriakova Gene: med13l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.880 NDUFB11 Rhiannon Mellis reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25772934; Phenotypes: Linear skin defects, cardiomyopathy, ACC; 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 v1.880 TMEM70 Rhiannon Mellis reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21147908, PMID: 24740313, PMID: 26550569, PMID: 20335238, PMID: 25326274; Phenotypes: IUGR, Oligohydramnios, Anhydramnios, Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.880 SPTA1 Rhiannon Mellis gene: SPTA1 was added
gene: SPTA1 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: SPTA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SPTA1 were set to PMID: 34132406; PMID: 31333484
Phenotypes for gene: SPTA1 were set to Hydrops fetalis; Congenital anaemia
Review for gene: SPTA1 was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs.
Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH).

Outcome of review: Likely that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as an Amber gene, pending further evidence and review of other congenital anaemia genes that may cause hydrops.

Currently rated Green on the following other PanelApp panel(s): Congenital anaemias

Details of review: The fetal case in Wagner et al 2021 (PMID: 34132406) had hydrops secondary to severe fetal anaemia at 28/40. Chonat et al 2019 (PMID: 31333484) also report 3 further unrelated cases with hydrops/fetal anaemia.
Sources: Literature, Expert Review
Fetal anomalies v1.880 PLOD3 Rhiannon Mellis gene: PLOD3 was added
gene: PLOD3 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to PMID: 18834968; PMID: 33743358
Phenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency; IUGR; Contractures
Review for gene: PLOD3 was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs.
Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH).

Outcome of review: May be fetally relevant, support adding to the Fetal anomalies panel as an Amber gene, pending more evidence.

Rated Green on the following other PanelApp panel(s): Cataracts

Details of review: Phenotype on OMIM includes potentially fetally detectable phenotypes: IUGR, contractures, cataracts (?whether congenital). Salo et al 2008 (PMID: 18834968) describes a proband with IUGR, flat facial profile, simple, low-set ears, shallow orbits, short, upturned nose, and downturned corners of the mouth. Skeletal features included talipes equinovarus, progressive scoliosis, osteopenia, and several pathologic fractures. A sib had IUGR and was stillborn, with finger contractures (but didn't seem to have molecular testing?).

The fetal case in Cao et al 2021 had NT 5.2 mm (12/40), Reduced fetal movement (12/40), FGR (24/40), Enlarged posterior fossa (24/40), Intracranial haemorrhage (24/40), Clenched hands and fixated extended knees (24/40).
Sources: Literature, Expert Review
Fetal anomalies v1.880 PLD1 Rhiannon Mellis reviewed gene: PLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33142350; Phenotypes: Cardiomyopathy, Congenital heart malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.880 NMNAT2 Rhiannon Mellis reviewed gene: NMNAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33442022; Phenotypes: Hydrops fetalis, brain malformation, oligohydramnios; Mode of inheritance: None
Fetal anomalies v1.880 NEXN Rhiannon Mellis gene: NEXN was added
gene: NEXN was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: NEXN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEXN were set to PMID: 32058062; PMID: 33027564
Phenotypes for gene: NEXN were set to Cardiomyopathy
Review for gene: NEXN was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs.
Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH).

Outcome of review: Gene usually causes adult-onset AD cardiomyopathy. However, there may be a fetally relevant phenotype with biallelic variants. Support adding to the Fetal anomalies panel as an Amber gene, pending more evidence of fetal phenotype (only 2 reported unrelated cases to date).

Currently rated Green on the following other PanelApp panel(s): Cardiomyopathy (dilated)

Details of review: The fetal case in Sparks et al (PMID: 33027564) had pericardial effusion, ascites, cardiomegaly, dilation and hypertrophy of cardiac ventricles, hypoplastic and dysplastic aortic valve, diminished systolic function, fetal growth restriction, and was stillborn. 2 NEXN variants found in the fetus (1 mat inherited, 1 de novo) but unable to confirm phase.
The fetal case in Rinaldi et al 2021 (PMID: 32058062) had Cardiomegaly, low contractility/outflow, fibroelastosis of right ventricle. The fetus was compound het for NEXN variants and parents were both unaffected het with normal echos. They'd had one previous pregnancy with same phenotype.
Sources: Literature, Expert Review
Fetal anomalies v1.880 MED13L Rhiannon Mellis reviewed gene: MED13L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33142350, PMID: 32058062; Phenotypes: Intellectual disability, dysmorphic features, congenital heart malformations, talipes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.880 LRIT3 Arina Puzriakova commented on gene: LRIT3
Fetal anomalies v1.879 LONP1 Arina Puzriakova commented on gene: LONP1: Added 'watchlist_moi' tag to monitor recently reported association with congenital diaphragmatic hernia as highlighted in review by Zornitza Stark (Australian Genomics)
Fetal anomalies v1.879 LONP1 Arina Puzriakova Tag watchlist_moi tag was added to gene: LONP1.
Fetal anomalies v1.879 LONP1 Arina Puzriakova Classified gene: LONP1 as Green List (high evidence)
Fetal anomalies v1.879 LONP1 Arina Puzriakova Gene: lonp1 has been classified as Green List (High Evidence).
Fetal anomalies v1.878 LRIT3 Arina Puzriakova Source Expert Review Red was added to LRIT3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v1.878 LONP1 Arina Puzriakova Source Expert Review Red was added to LONP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v1.877 ZFPM2 Arina Puzriakova Classified gene: ZFPM2 as Amber List (moderate evidence)
Fetal anomalies v1.877 ZFPM2 Arina Puzriakova Added comment: Comment on list classification: Rating Amber based on the evidence provided in review by Anna de Burca. Gene-disease association is classified with 'limited' confidence in G2P. Cases indicate reduced penetrance and no functional studies of variants relating to diaphragmatic hernia have been reported thus far. Gene is also associated with other phenotypes with limited support.
Fetal anomalies v1.877 ZFPM2 Arina Puzriakova Gene: zfpm2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.876 ZFPM2 Arina Puzriakova Phenotypes for gene: ZFPM2 were changed from Congenital diaphragmatic hernia to Diaphragmatic hernia 3, OMIM:610187
Fetal anomalies v1.875 TUBG1 Arina Puzriakova Publications for gene: TUBG1 were set to 23603762; 27010057
Fetal anomalies v1.874 TUBG1 Arina Puzriakova Phenotypes for gene: TUBG1 were changed from Posteriorly predominant pachygyria and severe microcephaly to Cortical dysplasia, complex, with other brain malformations 4, OMIM:615412
Fetal anomalies v1.873 WNT7B Julia Baptista gene: WNT7B was added
gene: WNT7B was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT7B were set to 35790350
Phenotypes for gene: WNT7B were set to Pulmonary hypoplasia; Diaphragmatic anomalies; Anophthalmia/Microphthalmia; Cardiac defects
Review for gene: WNT7B was set to GREEN
Added comment: One homozygous nonsense variant identified in family 1. Compound heterozygous missense and nonsense variants identified in two affected fetuses in family 2. A third family with limited phenotypic information available, with parents heterozygous for the same nonsense variant, p. (Arg98Ter), identified in family 1, but no segregation studies in the affected.
Animal studies in Danio rerio were supportive.
Lung hypoplasia with tracheal, ocular, cardiac, and renal defects.
Sources: Expert Review
Fetal anomalies v1.873 MTM1 Arina Puzriakova Added comment: Comment on mode of inheritance: Rare manifesting females have been reported, including a heterozygous female with prenatal/neonatal onset (PMID: 12707446). MOI should therefore be updated form XLR to XLD at the next GMS review.
Fetal anomalies v1.873 MTM1 Arina Puzriakova Mode of inheritance for gene: MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.872 MTM1 Arina Puzriakova Tag Q3_22_MOI tag was added to gene: MTM1.
Fetal anomalies v1.872 MTM1 Arina Puzriakova Phenotypes for gene: MTM1 were changed from MYOTUBULAR MYOPATHY, X-LINKED to Myopathy, centronuclear, X-linked, OMIM:310400
Fetal anomalies v1.871 GBA Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
Fetal anomalies v1.871 KIAA1109 Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.; to: Added new-gene-name tag, new approved HGNC gene symbol for KIAA1109 is BLTP1.
Fetal anomalies v1.871 SKIV2L Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.; to: Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2.
Fetal anomalies v1.871 TTC37 Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for TTC37 is SKIC3.; to: Added new-gene-name tag, new approved HGNC gene symbol for TTC37 is SKIC3.
Fetal anomalies v1.871 TTC37 Sarah Leigh Tag new-gene-name tag was added to gene: TTC37.
Fetal anomalies v1.871 TTC37 Sarah Leigh commented on gene: TTC37
Fetal anomalies v1.871 SKIV2L Sarah Leigh Tag new-gene-name tag was added to gene: SKIV2L.
Fetal anomalies v1.871 SKIV2L Sarah Leigh commented on gene: SKIV2L
Fetal anomalies v1.871 KIAA1109 Sarah Leigh Tag new-gene-name tag was added to gene: KIAA1109.
Fetal anomalies v1.871 KIAA1109 Sarah Leigh commented on gene: KIAA1109
Fetal anomalies v1.871 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
Fetal anomalies v1.871 GBA Sarah Leigh commented on gene: GBA
Fetal anomalies v1.871 ARHGAP29 Eleanor Williams Publications for gene: ARHGAP29 were set to
Fetal anomalies v1.870 SRY Eleanor Williams commented on gene: SRY: Added Y chromosome tag to indicate this gene is encoded on the Y chromosome, which is currently not included in the Bioinformatics tiering pipeline.
Fetal anomalies v1.870 SRY Eleanor Williams Tag y-chromosome tag was added to gene: SRY.
Fetal anomalies v1.870 CACNA1C Eleanor Williams Phenotypes for gene: CACNA1C were changed from Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder
Fetal anomalies v1.869 CACNA1C Eleanor Williams Phenotypes for gene: CACNA1C were changed from TIMOTHY SYNDROME to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder
Fetal anomalies v1.868 CYP11B1 Arina Puzriakova Added comment: Comment on mode of inheritance: Only biallelic MOI is relevant to this panel, causing Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010, characterised by androgen excess, virilization, and hypertension (can be detected prenatally by increased levels of tetrahydro-11-deoxycortisol in the amniotic fluid). On the other hand, AD disease arises in the form of familial hyperaldosteronism/hypertension in childhood to early adulthood and therefore should be excluded from the fetal panel.
Fetal anomalies v1.868 CYP11B1 Arina Puzriakova Mode of inheritance for gene: CYP11B1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.867 CYP11B1 Arina Puzriakova Phenotypes for gene: CYP11B1 were changed from Aldosteronism, glucocorticoid-remediable 103900; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010 to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010
Fetal anomalies v1.866 CYP11B1 Arina Puzriakova Tag Q3_22_MOI tag was added to gene: CYP11B1.
Fetal anomalies v1.866 CYP11A1 Arina Puzriakova Tag Q3_22_MOI tag was added to gene: CYP11A1.
Fetal anomalies v1.866 CYP11A1 Arina Puzriakova Publications for gene: CYP11A1 were set to 28425981
Fetal anomalies v1.865 CYP11A1 Arina Puzriakova Added comment: Comment on mode of inheritance: Homozygous, compound heterozygous, and heterozygous (although most rare) variants in the CYP11A1 gene have all been associated with disease. Therefore, MOI should be updated to 'Both mono- and biallelic' at the next GMS panel update.
Fetal anomalies v1.865 CYP11A1 Arina Puzriakova Mode of inheritance for gene: CYP11A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.864 ZFPM2 Anna de Burca gene: ZFPM2 was added
gene: ZFPM2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFPM2 were set to 24702427
Phenotypes for gene: ZFPM2 were set to Congenital diaphragmatic hernia
Penetrance for gene: ZFPM2 were set to Incomplete
Review for gene: ZFPM2 was set to AMBER
Added comment: Paper suggests that ZFPM2 variants may be associated with isolated congenital diaphragmatic hernia, but penetrance appears reduced. Given the apparently reduced penetrance and since isolated CDH is a relatively common congenital finding, the gene-disease association remains uncertain. Of note, variants in this gene have also been associated with 46,XY sex reversal and Tetralogy of Fallot.
Sources: Literature
Fetal anomalies v1.864 ACO2 Sarah Leigh Mode of inheritance for gene: ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.863 ACO2 Sarah Leigh commented on gene: ACO2: New paper (34056600) describing ACO2 as a cause of autosomal dominant optic atrophy - update of inheritance needed.
Tom Cullup (Great Ormond Street Hospital), 17 Feb 2022
Fetal anomalies v1.863 ACO2 Sarah Leigh reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.863 ACO2 Sarah Leigh Publications for gene: ACO2 were set to
Fetal anomalies v1.862 PLCB4 Eleanor Williams Classified gene: PLCB4 as Amber List (moderate evidence)
Fetal anomalies v1.862 PLCB4 Eleanor Williams Added comment: Comment on list classification: Leaving the rating of this gene as amber just now, but there are sufficient cases to promote to green following GMS review.
Fetal anomalies v1.862 PLCB4 Eleanor Williams Gene: plcb4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.861 PLCB4 Eleanor Williams Mode of inheritance for gene: PLCB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.860 PLCB4 Eleanor Williams Tag Q2_22_rating tag was added to gene: PLCB4.
Fetal anomalies v1.860 PLCB4 Eleanor Williams reviewed gene: PLCB4: Rating: ; Mode of pathogenicity: None; Publications: 22560091, 23315542, 28328130, 23913798; Phenotypes: Auriculocondylar syndrome 2, OMIM:614669, auriculocondylar syndrome 2, MONDO:0013845; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.860 TAZ Arina Puzriakova commented on gene: TAZ
Fetal anomalies v1.860 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Fetal anomalies v1.860 PIH1D3 Arina Puzriakova commented on gene: PIH1D3: Added new-gene-name tag, new approved HGNC gene symbol for PIH1D3 is DNAAF6
Fetal anomalies v1.860 PIH1D3 Arina Puzriakova Tag new-gene-name tag was added to gene: PIH1D3.
Fetal anomalies v1.860 IMPAD1 Arina Puzriakova commented on gene: IMPAD1
Fetal anomalies v1.860 IMPAD1 Arina Puzriakova Tag new-gene-name tag was added to gene: IMPAD1.
Fetal anomalies v1.860 FAM46A Arina Puzriakova commented on gene: FAM46A: Added new-gene-name tag, new approved HGNC gene symbol is TENT5A
Fetal anomalies v1.860 FAM46A Arina Puzriakova Tag new-gene-name tag was added to gene: FAM46A.
Fetal anomalies v1.860 C8orf37 Arina Puzriakova commented on gene: C8orf37
Fetal anomalies v1.860 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Fetal anomalies v1.860 WBP11 Arina Puzriakova Tag gene-checked tag was added to gene: WBP11.
Fetal anomalies v1.860 PRIM1 Arina Puzriakova Tag gene-checked tag was added to gene: PRIM1.
Fetal anomalies v1.860 MYT1 Arina Puzriakova Tag gene-checked tag was added to gene: MYT1.
Fetal anomalies v1.860 MYH10 Arina Puzriakova Tag gene-checked tag was added to gene: MYH10.
Fetal anomalies v1.860 SCLT1 Eleanor Williams Tag gene-checked tag was added to gene: SCLT1.
Fetal anomalies v1.860 ROBO1 Eleanor Williams Tag gene-checked tag was added to gene: ROBO1.
Fetal anomalies v1.860 SMARCC1 Eleanor Williams Tag gene-checked tag was added to gene: SMARCC1.
Fetal anomalies v1.860 TBC1D32 Eleanor Williams Tag gene-checked tag was added to gene: TBC1D32.
Fetal anomalies v1.860 TMEM94 Eleanor Williams Tag gene-checked tag was added to gene: TMEM94.
Fetal anomalies v1.860 TRAP1 Eleanor Williams Tag gene-checked tag was added to gene: TRAP1.
Fetal anomalies v1.860 TXNDC15 Eleanor Williams Tag gene-checked tag was added to gene: TXNDC15.
Fetal anomalies v1.860 LRRC56 Eleanor Williams Tag gene-checked tag was added to gene: LRRC56.
Fetal anomalies v1.860 GREB1L Eleanor Williams Tag gene-checked tag was added to gene: GREB1L.
Fetal anomalies v1.860 C11orf70 Eleanor Williams Tag gene-checked tag was added to gene: C11orf70.
Fetal anomalies v1.860 EHBP1L1 Eleanor Williams Tag gene-checked tag was added to gene: EHBP1L1.
Fetal anomalies v1.860 ARHGAP29 Catherine Snow Tag gene-checked tag was added to gene: ARHGAP29.
Fetal anomalies v1.860 GNAI1 Arina Puzriakova Phenotypes for gene: GNAI1 were changed from GNAI1 syndrome to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854
Fetal anomalies v1.859 EXOC3L2 Arina Puzriakova Tag gene-checked tag was added to gene: EXOC3L2.
Fetal anomalies v1.859 DISP1 Arina Puzriakova commented on gene: DISP1: Added 'watchlist' tag as inclusion of this gene on the R85 Holoprosencephaly panel is currently under GMS review (TBC_NHSE) and the final decision should also be reflected on this panel once determined.
Fetal anomalies v1.859 DISP1 Arina Puzriakova Tag watchlist tag was added to gene: DISP1.
Fetal anomalies v1.859 DISP1 Arina Puzriakova Tag gene-checked tag was added to gene: DISP1.
Fetal anomalies v1.859 FH Arina Puzriakova Phenotypes for gene: FH were changed from FUMARASE DEFICIENCY to Fumarase deficiency, OMIM:606812
Fetal anomalies v1.858 COL1A2 Eleanor Williams changed review comment from: The mode of inheritance for the following phenotypes is monoallelic.
- Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 (OMIM:619120)
- Ehlers-Danlos syndrome, arthrochalasia type, 2 (OMIM:617821)
- Osteogenesis imperfecta, type II (OMIM:166210)
- Osteogenesis imperfecta, type III (OMIM:259420)
- Osteogenesis imperfecta, type IV (OMIM:166220)

Only Ehlers-Danlos syndrome, cardiac valvular type (OMIM: 225320) has a biallelic mode of inheritance.; to: Variants in this gene are associated with the following phenotypes in OMIM with a monoallelic mode of inheritance:
- Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 (OMIM:619120)
- Ehlers-Danlos syndrome, arthrochalasia type, 2 (OMIM:617821)
- Osteogenesis imperfecta, type II (OMIM:166210)
- Osteogenesis imperfecta, type III (OMIM:259420)
- Osteogenesis imperfecta, type IV (OMIM:166220)

Only Ehlers-Danlos syndrome, cardiac valvular type (OMIM: 225320) has a biallelic mode of inheritance.
Fetal anomalies v1.858 COL1A2 Eleanor Williams commented on gene: COL1A2
Fetal anomalies v1.858 MSX1 Arina Puzriakova Phenotypes for gene: MSX1 were changed from CLEFT LIP +/- CLEFT PALATE to Orofacial cleft 5, OMIM:608874
Fetal anomalies v1.857 IHH Arina Puzriakova Phenotypes for gene: IHH were changed from BRACHYDACTYLY, TYPE A1; ACROCAPITOFEMORAL DYSPLASIA to Acrocapitofemoral dysplasia, OMIM:607778; Brachydactyly, type A1, OMIM:112500
Fetal anomalies v1.856 LIFR Eleanor Williams Phenotypes for gene: LIFR were changed from Stuve-Wiedemann syndrome; Schwartz-Jampel type 2 syndrome to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM:601559
Fetal anomalies v1.855 LIFR Eleanor Williams Publications for gene: LIFR were set to
Fetal anomalies v1.854 LIFR Eleanor Williams changed review comment from: Heterozygous variants in LIFR are associated with a CAKUT phenotype, while homozygous variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. At the moment the mode of inheritance for this gene on the Fetal anomalies panel is biallelic only.

GMS fetal group input is needed to decide whether the mode of inheritance for this gene should also include monoallelic cases as the renal phenotype might be detected antenatally e.g. hydronephrosis.; to: Heterozygous variants in LIFR are associated with a CAKUT phenotype, while homozygous variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. At the moment the mode of inheritance for this gene on the Fetal anomalies panel is biallelic only.

GMS fetal group input is needed to decide whether the mode of inheritance for this gene should also include monoallelic cases as the renal phenotype might be detected antenatally e.g. hydronephrosis. The paper describing the CAKUT cases is PMID: 28334964 (Kosfeld et al 2017).
Fetal anomalies v1.854 LIFR Eleanor Williams commented on gene: LIFR
Fetal anomalies v1.854 LIFR Eleanor Williams Tag Q2_22_MOI tag was added to gene: LIFR.
Fetal anomalies v1.854 LIFR Eleanor Williams Tag Q2_22_expert_review tag was added to gene: LIFR.
Fetal anomalies v1.854 COL18A1 Sarah Leigh Phenotypes for gene: COL18A1 were changed from KNOBLOCH SYNDROME TYPE I to Knobloch syndrome, type 1, OMIM:267750
Fetal anomalies v1.853 COL18A1 Sarah Leigh Publications for gene: COL18A1 were set to
Fetal anomalies v1.852 IGF1R Arina Puzriakova Phenotypes for gene: IGF1R were changed from INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO to Insulin-like growth factor I, resistance to, OMIM:270450
Fetal anomalies v1.851 RAC3 Arina Puzriakova Phenotypes for gene: RAC3 were changed from Abnormality of brain morphology; Abnormal muscle tone; Neurodevelopmental delay; Intellectual disability to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, OMIM:618577
Fetal anomalies v1.850 RAC3 Arina Puzriakova Classified gene: RAC3 as Amber List (moderate evidence)
Fetal anomalies v1.850 RAC3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update.
Fetal anomalies v1.850 RAC3 Arina Puzriakova Gene: rac3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.849 RAC3 Arina Puzriakova Tag Q2_22_rating tag was added to gene: RAC3.
Fetal anomalies v1.849 BRIP1 Arina Puzriakova Phenotypes for gene: BRIP1 were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP J to Fanconi anemia, complementation group J, OMIM:609054
Fetal anomalies v1.848 PEX6 Sarah Leigh Penetrance for gene PEX6 was set from to None
Fetal anomalies v1.847 PEX6 Sarah Leigh edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.847 PEX6 Sarah Leigh Phenotypes for gene: PEX6 were changed from PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4; ZELLWEGER SYNDROME to Heimler syndrome 2, OMIM:616617; Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862; Peroxisome biogenesis disorder 4B, OMIM:614863
Fetal anomalies v1.846 PEX6 Sarah Leigh Publications for gene: PEX6 were set to
Fetal anomalies v1.845 PEX6 Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.
Fetal anomalies v1.845 PEX6 Sarah Leigh Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.844 PEX6 Sarah Leigh Tag Q1_22_MOI tag was added to gene: PEX6.
Fetal anomalies v1.844 MYH6 Ivone Leong Tag Q1_22_MOI tag was added to gene: MYH6.
Fetal anomalies v1.844 MYH6 Ivone Leong reviewed gene: MYH6: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.844 TUBA8 Arina Puzriakova Classified gene: TUBA8 as Amber List (moderate evidence)
Fetal anomalies v1.844 TUBA8 Arina Puzriakova Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.843 TUBA8 Arina Puzriakova Tag for-review was removed from gene: TUBA8.
Fetal anomalies v1.843 TUBA8 Arina Puzriakova commented on gene: TUBA8
Fetal anomalies v1.843 NEK9 Arina Puzriakova Classified gene: NEK9 as Green List (high evidence)
Fetal anomalies v1.843 NEK9 Arina Puzriakova Gene: nek9 has been classified as Green List (High Evidence).
Fetal anomalies v1.842 NEK9 Arina Puzriakova Tag for-review was removed from gene: NEK9.
Fetal anomalies v1.842 NEK9 Arina Puzriakova commented on gene: NEK9: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.842 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Fetal anomalies v1.842 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG
Fetal anomalies v1.840 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Fetal anomalies v1.840 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Source NHS GMS was added to STR: CNBP_CCTG.
Fetal anomalies v1.839 ISCA-46302-Gain Arina Puzriakova Tag for-review was removed from Region: ISCA-46302-Gain.
Fetal anomalies v1.839 ISCA-46302-Gain Arina Puzriakova commented on Region: ISCA-46302-Gain
Fetal anomalies v1.839 ISCA-46302-Gain Arina Puzriakova Haploinsufficiency Score for ISCA-46302-Gain was changed from None to .
Source Expert Review Green was added to Region: ISCA-46302-Gain.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.838 PRRX1 Arina Puzriakova Tag Q4_21_rating was removed from gene: PRRX1.
Fetal anomalies v1.838 PHF6 Arina Puzriakova Tag Q4_21_MOI was removed from gene: PHF6.
Fetal anomalies v1.838 PRRX1 Arina Puzriakova commented on gene: PRRX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.838 PHF6 Arina Puzriakova commented on gene: PHF6
Fetal anomalies v1.837 PRRX1 Arina Puzriakova Source Expert Review Green was added to PRRX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.837 PHF6 Arina Puzriakova Mode of inheritance for gene PHF6 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 v1.836 ZSWIM6 Arina Puzriakova Tag for-review was removed from gene: ZSWIM6.
Fetal anomalies v1.836 ZMYND10 Arina Puzriakova Tag for-review was removed from gene: ZMYND10.
Fetal anomalies v1.836 XYLT2 Arina Puzriakova Tag for-review was removed from gene: XYLT2.
Fetal anomalies v1.836 WDR81 Arina Puzriakova Tag for-review was removed from gene: WDR81.
Fetal anomalies v1.836 WDR73 Arina Puzriakova Tag for-review was removed from gene: WDR73.
Fetal anomalies v1.836 VRK1 Arina Puzriakova Tag for-review was removed from gene: VRK1.
Fetal anomalies v1.836 VEGFC Arina Puzriakova Tag for-review was removed from gene: VEGFC.
Fetal anomalies v1.836 VAMP1 Arina Puzriakova Tag for-review was removed from gene: VAMP1.
Fetal anomalies v1.836 USP9X Arina Puzriakova Tag for-review was removed from gene: USP9X.
Fetal anomalies v1.836 USP18 Arina Puzriakova Tag for-review was removed from gene: USP18.
Fetal anomalies v1.836 UBE2T Arina Puzriakova Tag for-review was removed from gene: UBE2T.
Fetal anomalies v1.836 TXNDC15 Arina Puzriakova Tag for-review was removed from gene: TXNDC15.
Fetal anomalies v1.836 TUBGCP4 Arina Puzriakova Tag for-review was removed from gene: TUBGCP4.
Fetal anomalies v1.836 TUBG1 Arina Puzriakova Tag for-review was removed from gene: TUBG1.
Fetal anomalies v1.836 TUBB3 Arina Puzriakova Tag for-review was removed from gene: TUBB3.
Fetal anomalies v1.836 TSFM Arina Puzriakova Tag for-review was removed from gene: TSFM.
Fetal anomalies v1.836 TSEN34 Arina Puzriakova Tag for-review was removed from gene: TSEN34.
Fetal anomalies v1.836 TSEN2 Arina Puzriakova Tag for-review was removed from gene: TSEN2.
Fetal anomalies v1.836 TRMT10A Arina Puzriakova Tag for-review was removed from gene: TRMT10A.
Fetal anomalies v1.836 TRAPPC12 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TRAPPC12 Arina Puzriakova edited their review of gene: TRAPPC12: Changed rating: GREEN
Fetal anomalies v1.836 TRAPPC12 Arina Puzriakova Tag watchlist was removed from gene: TRAPPC12.
Fetal anomalies v1.836 TRAP1 Arina Puzriakova Tag for-review was removed from gene: TRAP1.
Fetal anomalies v1.836 TRAIP Arina Puzriakova Tag for-review was removed from gene: TRAIP.
Fetal anomalies v1.836 TRAF3IP1 Arina Puzriakova Tag for-review was removed from gene: TRAF3IP1.
Fetal anomalies v1.836 TOR1A Arina Puzriakova Tag for-review was removed from gene: TOR1A.
Fetal anomalies v1.836 TOE1 Arina Puzriakova Tag for-review was removed from gene: TOE1.
Fetal anomalies v1.836 TNNT3 Arina Puzriakova Tag for-review was removed from gene: TNNT3.
Fetal anomalies v1.836 TMX2 Arina Puzriakova Tag for-review was removed from gene: TMX2.
Fetal anomalies v1.836 TMEM98 Arina Puzriakova Tag for-review was removed from gene: TMEM98.
Fetal anomalies v1.836 TMEM38B Arina Puzriakova Tag for-review was removed from gene: TMEM38B.
Fetal anomalies v1.836 TMEM216 Arina Puzriakova Tag for-review was removed from gene: TMEM216.
Fetal anomalies v1.836 TMEM107 Arina Puzriakova Tag for-review was removed from gene: TMEM107.
Fetal anomalies v1.836 TENM3 Arina Puzriakova Tag for-review was removed from gene: TENM3.
Fetal anomalies v1.836 TELO2 Arina Puzriakova Tag for-review was removed from gene: TELO2.
Fetal anomalies v1.836 TCTEX1D2 Arina Puzriakova Tag for-review was removed from gene: TCTEX1D2.
Fetal anomalies v1.836 TBC1D32 Arina Puzriakova Tag for-review was removed from gene: TBC1D32.
Fetal anomalies v1.836 SULT2B1 Arina Puzriakova Tag for-review was removed from gene: SULT2B1.
Fetal anomalies v1.836 SUFU Arina Puzriakova Tag watchlist was removed from gene: SUFU.
Tag for-review was removed from gene: SUFU.
Fetal anomalies v1.836 STRADA Arina Puzriakova Tag for-review was removed from gene: STRADA.
Fetal anomalies v1.836 STIL Arina Puzriakova Tag for-review was removed from gene: STIL.
Fetal anomalies v1.836 STAC3 Arina Puzriakova Tag for-review was removed from gene: STAC3.
Fetal anomalies v1.836 ST14 Arina Puzriakova Tag for-review was removed from gene: ST14.
Fetal anomalies v1.836 SPECC1L Arina Puzriakova Tag for-review was removed from gene: SPECC1L.
Fetal anomalies v1.836 SPARC Arina Puzriakova Tag for-review was removed from gene: SPARC.
Fetal anomalies v1.836 SP7 Arina Puzriakova Tag for-review was removed from gene: SP7.
Fetal anomalies v1.836 SOX6 Arina Puzriakova Tag for-review was removed from gene: SOX6.
Fetal anomalies v1.836 SOX18 Arina Puzriakova Tag for-review was removed from gene: SOX18.
Fetal anomalies v1.836 SNX10 Arina Puzriakova Tag for-review was removed from gene: SNX10.
Fetal anomalies v1.836 SMS Arina Puzriakova Tag for-review was removed from gene: SMS.
Fetal anomalies v1.836 SMPD4 Arina Puzriakova Tag for-review was removed from gene: SMPD4.
Fetal anomalies v1.836 SMG9 Arina Puzriakova Tag for-review was removed from gene: SMG9.
Fetal anomalies v1.836 SMARCE1 Arina Puzriakova Tag Q4_21_rating was removed from gene: SMARCE1.
Fetal anomalies v1.836 SMARCC1 Arina Puzriakova Tag Q2_21_rating was removed from gene: SMARCC1.
Fetal anomalies v1.836 SLC6A9 Arina Puzriakova Tag Q4_21_rating was removed from gene: SLC6A9.
Fetal anomalies v1.836 SLC5A7 Arina Puzriakova Tag for-review was removed from gene: SLC5A7.
Fetal anomalies v1.836 SLC29A3 Arina Puzriakova Tag for-review was removed from gene: SLC29A3.
Fetal anomalies v1.836 SLC25A19 Arina Puzriakova Tag for-review was removed from gene: SLC25A19.
Fetal anomalies v1.836 SLC18A3 Arina Puzriakova Tag for-review was removed from gene: SLC18A3.
Fetal anomalies v1.836 SIX6 Arina Puzriakova Tag for-review was removed from gene: SIX6.
Fetal anomalies v1.836 SHANK3 Arina Puzriakova Tag for-review was removed from gene: SHANK3.
Fetal anomalies v1.836 SGCG Arina Puzriakova Tag for-review was removed from gene: SGCG.
Fetal anomalies v1.836 SERPINH1 Arina Puzriakova Tag for-review was removed from gene: SERPINH1.
Fetal anomalies v1.836 SERPINF1 Arina Puzriakova Tag for-review was removed from gene: SERPINF1.
Fetal anomalies v1.836 SEC24D Arina Puzriakova Tag for-review was removed from gene: SEC24D.
Fetal anomalies v1.836 SDR9C7 Arina Puzriakova Tag for-review was removed from gene: SDR9C7.
Fetal anomalies v1.836 SCN1A Arina Puzriakova Tag for-review was removed from gene: SCN1A.
Fetal anomalies v1.836 SCLT1 Arina Puzriakova Tag for-review was removed from gene: SCLT1.
Fetal anomalies v1.836 RSPH9 Arina Puzriakova Tag for-review was removed from gene: RSPH9.
Fetal anomalies v1.836 RSPH4A Arina Puzriakova Tag for-review was removed from gene: RSPH4A.
Fetal anomalies v1.836 RRAS2 Arina Puzriakova Tag for-review was removed from gene: RRAS2.
Fetal anomalies v1.836 RPS7 Arina Puzriakova Tag for-review was removed from gene: RPS7.
Fetal anomalies v1.836 RPS24 Arina Puzriakova Tag for-review was removed from gene: RPS24.
Fetal anomalies v1.836 RPL35A Arina Puzriakova Tag for-review was removed from gene: RPL35A.
Fetal anomalies v1.836 RPL10 Arina Puzriakova Tag for-review was removed from gene: RPL10.
Fetal anomalies v1.836 ROBO3 Arina Puzriakova Tag for-review was removed from gene: ROBO3.
Fetal anomalies v1.836 RFT1 Arina Puzriakova Tag for-review was removed from gene: RFT1.
Fetal anomalies v1.836 RBM10 Arina Puzriakova Tag for-review was removed from gene: RBM10.
Fetal anomalies v1.836 RBBP8 Arina Puzriakova Tag for-review was removed from gene: RBBP8.
Fetal anomalies v1.836 RAB33B Arina Puzriakova Tag for-review was removed from gene: RAB33B.
Fetal anomalies v1.836 PYGM Arina Puzriakova Tag for-review was removed from gene: PYGM.
Fetal anomalies v1.836 PTPN14 Arina Puzriakova Tag for-review was removed from gene: PTPN14.
Fetal anomalies v1.836 PSAT1 Arina Puzriakova Tag for-review was removed from gene: PSAT1.
Fetal anomalies v1.836 PRUNE1 Arina Puzriakova Tag for-review was removed from gene: PRUNE1.
Fetal anomalies v1.836 PRKAG2 Arina Puzriakova Tag for-review was removed from gene: PRKAG2.
Fetal anomalies v1.836 PRIM1 Arina Puzriakova Tag Q4_21_rating was removed from gene: PRIM1.
Fetal anomalies v1.836 POP1 Arina Puzriakova Tag for-review was removed from gene: POP1.
Fetal anomalies v1.836 POLR1B Arina Puzriakova Tag Q4_21_rating was removed from gene: POLR1B.
Fetal anomalies v1.836 POLR1A Arina Puzriakova Tag for-review was removed from gene: POLR1A.
Fetal anomalies v1.836 POLG2 Arina Puzriakova Tag for-review was removed from gene: POLG2.
Fetal anomalies v1.836 POLE Arina Puzriakova Tag for-review was removed from gene: POLE.
Fetal anomalies v1.836 PNPLA1 Arina Puzriakova Tag for-review was removed from gene: PNPLA1.
Fetal anomalies v1.836 PLG Arina Puzriakova Tag for-review was removed from gene: PLG.
Fetal anomalies v1.836 PLAG1 Arina Puzriakova Tag for-review was removed from gene: PLAG1.
Fetal anomalies v1.836 PITX1 Arina Puzriakova Tag for-review was removed from gene: PITX1.
Fetal anomalies v1.836 PIK3C2A Arina Puzriakova Tag for-review was removed from gene: PIK3C2A.
Fetal anomalies v1.836 PIH1D3 Arina Puzriakova Tag for-review was removed from gene: PIH1D3.
Fetal anomalies v1.836 PIGN Arina Puzriakova Tag for-review was removed from gene: PIGN.
Fetal anomalies v1.836 PIBF1 Arina Puzriakova Tag for-review was removed from gene: PIBF1.
Fetal anomalies v1.836 PGM3 Arina Puzriakova Tag for-review was removed from gene: PGM3.
Fetal anomalies v1.836 PFKM Arina Puzriakova Tag for-review was removed from gene: PFKM.
Fetal anomalies v1.836 PBX1 Arina Puzriakova Tag for-review was removed from gene: PBX1.
Fetal anomalies v1.836 PAX7 Arina Puzriakova Tag for-review was removed from gene: PAX7.
Fetal anomalies v1.836 P4HB Arina Puzriakova Tag for-review was removed from gene: P4HB.
Fetal anomalies v1.836 OSGEP Arina Puzriakova Tag for-review was removed from gene: OSGEP.
Fetal anomalies v1.836 NXN Arina Puzriakova Tag for-review was removed from gene: NXN.
Fetal anomalies v1.836 NIPAL4 Arina Puzriakova Tag for-review was removed from gene: NIPAL4.
Fetal anomalies v1.836 NEK8 Arina Puzriakova Tag for-review was removed from gene: NEK8.
Fetal anomalies v1.836 NEDD4L Arina Puzriakova Tag for-review was removed from gene: NEDD4L.
Fetal anomalies v1.836 NECTIN1 Arina Puzriakova Tag for-review was removed from gene: NECTIN1.
Fetal anomalies v1.836 NADSYN1 Arina Puzriakova Tag for-review was removed from gene: NADSYN1.
Fetal anomalies v1.836 MYPN Arina Puzriakova Tag for-review was removed from gene: MYPN.
Fetal anomalies v1.836 MYOCD Arina Puzriakova Tag for-review was removed from gene: MYOCD.
Fetal anomalies v1.836 MYO9A Arina Puzriakova Tag for-review was removed from gene: MYO9A.
Fetal anomalies v1.836 MYO18B Arina Puzriakova Tag for-review was removed from gene: MYO18B.
Fetal anomalies v1.836 MYMK Arina Puzriakova Tag for-review was removed from gene: MYMK.
Fetal anomalies v1.836 MYL1 Arina Puzriakova Tag for-review was removed from gene: MYL1.
Fetal anomalies v1.836 MYH7 Arina Puzriakova Tag for-review was removed from gene: MYH7.
Fetal anomalies v1.836 MYH2 Arina Puzriakova Tag for-review was removed from gene: MYH2.
Fetal anomalies v1.836 MSTO1 Arina Puzriakova Tag for-review was removed from gene: MSTO1.
Fetal anomalies v1.836 MSMO1 Arina Puzriakova Tag for-review was removed from gene: MSMO1.
Fetal anomalies v1.836 MRAS Arina Puzriakova Tag for-review was removed from gene: MRAS.
Fetal anomalies v1.836 MOGS Arina Puzriakova Tag for-review was removed from gene: MOGS.
Fetal anomalies v1.836 MN1 Arina Puzriakova Tag for-review was removed from gene: MN1.
Tag Q4_21_rating was removed from gene: MN1.
Fetal anomalies v1.836 MESD Arina Puzriakova Tag for-review was removed from gene: MESD.
Fetal anomalies v1.836 MEOX1 Arina Puzriakova Tag for-review was removed from gene: MEOX1.
Fetal anomalies v1.836 MEIS2 Arina Puzriakova Tag for-review was removed from gene: MEIS2.
Fetal anomalies v1.836 MAP3K7 Arina Puzriakova Tag for-review was removed from gene: MAP3K7.
Fetal anomalies v1.836 MAP3K20 Arina Puzriakova Tag for-review was removed from gene: MAP3K20.
Fetal anomalies v1.836 MACF1 Arina Puzriakova Tag for-review was removed from gene: MACF1.
Fetal anomalies v1.836 LRRC56 Arina Puzriakova Tag for-review was removed from gene: LRRC56.
Fetal anomalies v1.836 LONP1 Arina Puzriakova Tag for-review was removed from gene: LONP1.
Fetal anomalies v1.836 LMNB2 Arina Puzriakova Tag Q4_21_rating was removed from gene: LMNB2.
Fetal anomalies v1.836 LMNB1 Arina Puzriakova Tag Q4_21_rating was removed from gene: LMNB1.
Fetal anomalies v1.836 LAMB1 Arina Puzriakova Tag for-review was removed from gene: LAMB1.
Fetal anomalies v1.836 KNL1 Arina Puzriakova Tag for-review was removed from gene: KNL1.
Fetal anomalies v1.836 KLHL7 Arina Puzriakova Tag for-review was removed from gene: KLHL7.
Fetal anomalies v1.836 KIF5C Arina Puzriakova Tag for-review was removed from gene: KIF5C.
Fetal anomalies v1.836 KIF2A Arina Puzriakova Tag for-review was removed from gene: KIF2A.
Fetal anomalies v1.836 KIF14 Arina Puzriakova Tag for-review was removed from gene: KIF14.
Fetal anomalies v1.836 KIAA0753 Arina Puzriakova Tag for-review was removed from gene: KIAA0753.
Fetal anomalies v1.836 KATNB1 Arina Puzriakova Tag for-review was removed from gene: KATNB1.
Fetal anomalies v1.836 ITGA8 Arina Puzriakova Tag for-review was removed from gene: ITGA8.
Fetal anomalies v1.836 IFT81 Arina Puzriakova Tag for-review was removed from gene: IFT81.
Fetal anomalies v1.836 IFT52 Arina Puzriakova Tag for-review was removed from gene: IFT52.
Fetal anomalies v1.836 IDH1 Arina Puzriakova Tag for-review was removed from gene: IDH1.
Fetal anomalies v1.836 ICK Arina Puzriakova Tag for-review was removed from gene: ICK.
Fetal anomalies v1.836 HMGA2 Arina Puzriakova Tag for-review was removed from gene: HMGA2.
Fetal anomalies v1.836 HIST1H1E Arina Puzriakova Tag for-review was removed from gene: HIST1H1E.
Fetal anomalies v1.836 HESX1 Arina Puzriakova Tag for-review was removed from gene: HESX1.
Fetal anomalies v1.836 HADHB Arina Puzriakova Tag for-review was removed from gene: HADHB.
Fetal anomalies v1.836 GZF1 Arina Puzriakova Tag for-review was removed from gene: GZF1.
Fetal anomalies v1.836 GSC Arina Puzriakova Tag for-review was removed from gene: GSC.
Fetal anomalies v1.836 GREB1L Arina Puzriakova Tag for-review was removed from gene: GREB1L.
Fetal anomalies v1.836 GPC6 Arina Puzriakova Tag for-review was removed from gene: GPC6.
Fetal anomalies v1.836 GMNN Arina Puzriakova Tag for-review was removed from gene: GMNN.
Fetal anomalies v1.836 GLI1 Arina Puzriakova Tag for-review was removed from gene: GLI1.
Fetal anomalies v1.836 GFPT1 Arina Puzriakova Tag for-review was removed from gene: GFPT1.
Fetal anomalies v1.836 GATA3 Arina Puzriakova Tag for-review was removed from gene: GATA3.
Fetal anomalies v1.836 GANAB Arina Puzriakova Tag for-review was removed from gene: GANAB.
Fetal anomalies v1.836 GALNT2 Arina Puzriakova Tag for-review was removed from gene: GALNT2.
Fetal anomalies v1.836 FZD2 Arina Puzriakova Tag for-review was removed from gene: FZD2.
Fetal anomalies v1.836 FUT8 Arina Puzriakova Tag for-review was removed from gene: FUT8.
Fetal anomalies v1.836 FLNC Arina Puzriakova Tag Q4_21_rating was removed from gene: FLNC.
Fetal anomalies v1.836 FKBP10 Arina Puzriakova Tag for-review was removed from gene: FKBP10.
Fetal anomalies v1.836 FIG4 Arina Puzriakova Tag for-review was removed from gene: FIG4.
Fetal anomalies v1.836 FANCL Arina Puzriakova Tag for-review was removed from gene: FANCL.
Fetal anomalies v1.836 FAM46A Arina Puzriakova Tag for-review was removed from gene: FAM46A.
Fetal anomalies v1.836 EXTL3 Arina Puzriakova Tag Q4_21_rating was removed from gene: EXTL3.
Fetal anomalies v1.836 EXOC3L2 Arina Puzriakova Tag for-review was removed from gene: EXOC3L2.
Fetal anomalies v1.836 ENPP1 Arina Puzriakova Tag Q4_21_rating was removed from gene: ENPP1.
Fetal anomalies v1.836 EMX2 Arina Puzriakova Tag for-review was removed from gene: EMX2.
Fetal anomalies v1.836 EML1 Arina Puzriakova Tag for-review was removed from gene: EML1.
Fetal anomalies v1.836 EIF5A Arina Puzriakova Tag Q4_21_rating was removed from gene: EIF5A.
Fetal anomalies v1.836 EIF2S3 Arina Puzriakova Tag for-review was removed from gene: EIF2S3.
Fetal anomalies v1.836 EED Arina Puzriakova Tag for-review was removed from gene: EED.
Fetal anomalies v1.836 DZIP1L Arina Puzriakova Tag for-review was removed from gene: DZIP1L.
Fetal anomalies v1.836 DYNC2LI1 Arina Puzriakova Tag for-review was removed from gene: DYNC2LI1.
Fetal anomalies v1.836 DPM3 Arina Puzriakova Tag for-review was removed from gene: DPM3.
Fetal anomalies v1.836 DPM2 Arina Puzriakova Tag for-review was removed from gene: DPM2.
Fetal anomalies v1.836 DONSON Arina Puzriakova Tag for-review was removed from gene: DONSON.
Fetal anomalies v1.836 DNM2 Arina Puzriakova Tag for-review was removed from gene: DNM2.
Fetal anomalies v1.836 DNM1L Arina Puzriakova Tag for-review was removed from gene: DNM1L.
Fetal anomalies v1.836 DNAL1 Arina Puzriakova Tag for-review was removed from gene: DNAL1.
Fetal anomalies v1.836 DNAJB11 Arina Puzriakova Tag for-review was removed from gene: DNAJB11.
Fetal anomalies v1.836 DNAAF5 Arina Puzriakova Tag for-review was removed from gene: DNAAF5.
Fetal anomalies v1.836 DNAI2 Arina Puzriakova Tag for-review was removed from gene: DNAI2.
Fetal anomalies v1.836 DNAAF2 Arina Puzriakova Tag for-review was removed from gene: DNAAF2.
Fetal anomalies v1.836 DLX5 Arina Puzriakova Tag for-review was removed from gene: DLX5.
Fetal anomalies v1.836 DISP1 Arina Puzriakova Tag for-review was removed from gene: DISP1.
Fetal anomalies v1.836 DIAPH1 Arina Puzriakova Tag for-review was removed from gene: DIAPH1.
Fetal anomalies v1.836 DENND5A Arina Puzriakova Tag for-review was removed from gene: DENND5A.
Fetal anomalies v1.836 DDX59 Arina Puzriakova Tag for-review was removed from gene: DDX59.
Fetal anomalies v1.836 CYP4F22 Arina Puzriakova Tag for-review was removed from gene: CYP4F22.
Fetal anomalies v1.836 CYP26B1 Arina Puzriakova Tag for-review was removed from gene: CYP26B1.
Fetal anomalies v1.836 CTU2 Arina Puzriakova Tag for-review was removed from gene: CTU2.
Fetal anomalies v1.836 CTNND1 Arina Puzriakova Tag for-review was removed from gene: CTNND1.
Fetal anomalies v1.836 CSF1R Arina Puzriakova Tag Q4_21_rating was removed from gene: CSF1R.
Fetal anomalies v1.836 CRIPT Arina Puzriakova Tag for-review was removed from gene: CRIPT.
Fetal anomalies v1.836 CREB3L1 Arina Puzriakova Tag for-review was removed from gene: CREB3L1.
Fetal anomalies v1.836 CRADD Arina Puzriakova Tag Q4_21_rating was removed from gene: CRADD.
Fetal anomalies v1.836 COLQ Arina Puzriakova Tag for-review was removed from gene: COLQ.
Fetal anomalies v1.836 COLEC10 Arina Puzriakova Tag for-review was removed from gene: COLEC10.
Fetal anomalies v1.836 COL13A1 Arina Puzriakova Tag for-review was removed from gene: COL13A1.
Fetal anomalies v1.836 COL12A1 Arina Puzriakova Tag for-review was removed from gene: COL12A1.
Fetal anomalies v1.836 COG6 Arina Puzriakova Tag for-review was removed from gene: COG6.
Fetal anomalies v1.836 COG5 Arina Puzriakova Tag for-review was removed from gene: COG5.
Fetal anomalies v1.836 CLP1 Arina Puzriakova Tag for-review was removed from gene: CLP1.
Fetal anomalies v1.836 CIT Arina Puzriakova Tag for-review was removed from gene: CIT.
Fetal anomalies v1.836 CHRNE Arina Puzriakova Tag for-review was removed from gene: CHRNE.
Fetal anomalies v1.836 CHRNB1 Arina Puzriakova Tag for-review was removed from gene: CHRNB1.
Fetal anomalies v1.836 CHRNA3 Arina Puzriakova Tag for-review was removed from gene: CHRNA3.
Fetal anomalies v1.836 CHMP1A Arina Puzriakova Tag for-review was removed from gene: CHMP1A.
Fetal anomalies v1.836 CFL2 Arina Puzriakova Tag for-review was removed from gene: CFL2.
Fetal anomalies v1.836 CERS3 Arina Puzriakova Tag for-review was removed from gene: CERS3.
Fetal anomalies v1.836 CEP63 Arina Puzriakova Tag for-review was removed from gene: CEP63.
Fetal anomalies v1.836 CEP55 Arina Puzriakova Tag for-review was removed from gene: CEP55.
Fetal anomalies v1.836 CEP135 Arina Puzriakova Tag for-review was removed from gene: CEP135.
Fetal anomalies v1.836 CENPF Arina Puzriakova Tag for-review was removed from gene: CENPF.
Fetal anomalies v1.836 CELSR1 Arina Puzriakova Tag for-review was removed from gene: CELSR1.
Fetal anomalies v1.836 CDK8 Arina Puzriakova Tag Q4_21_rating was removed from gene: CDK8.
Fetal anomalies v1.836 CDK5RAP2 Arina Puzriakova Tag for-review was removed from gene: CDK5RAP2.
Fetal anomalies v1.836 CCDC88C Arina Puzriakova Tag for-review was removed from gene: CCDC88C.
Fetal anomalies v1.836 CCDC8 Arina Puzriakova Tag for-review was removed from gene: CCDC8.
Fetal anomalies v1.836 CCDC151 Arina Puzriakova Tag for-review was removed from gene: CCDC151.
Fetal anomalies v1.836 CASR Arina Puzriakova Tag for-review was removed from gene: CASR.
Fetal anomalies v1.836 CANT1 Arina Puzriakova Tag for-review was removed from gene: CANT1.
Fetal anomalies v1.836 CACNA1G Arina Puzriakova Tag for-review was removed from gene: CACNA1G.
Fetal anomalies v1.836 C2CD3 Arina Puzriakova Tag for-review was removed from gene: C2CD3.
Fetal anomalies v1.836 C21orf59 Arina Puzriakova Tag for-review was removed from gene: C21orf59.
Fetal anomalies v1.836 BNC2 Arina Puzriakova Tag for-review was removed from gene: BNC2.
Fetal anomalies v1.836 B9D2 Arina Puzriakova Tag for-review was removed from gene: B9D2.
Fetal anomalies v1.836 B4GAT1 Arina Puzriakova Tag for-review was removed from gene: B4GAT1.
Fetal anomalies v1.836 B3GALNT2 Arina Puzriakova Tag for-review was removed from gene: B3GALNT2.
Fetal anomalies v1.836 ATR Arina Puzriakova Tag for-review was removed from gene: ATR.
Fetal anomalies v1.836 ATP1A2 Arina Puzriakova Tag for-review was removed from gene: ATP1A2.
Fetal anomalies v1.836 ARHGAP29 Arina Puzriakova Tag for-review was removed from gene: ARHGAP29.
Fetal anomalies v1.836 ARFGEF2 Arina Puzriakova Tag for-review was removed from gene: ARFGEF2.
Fetal anomalies v1.836 ANTXR2 Arina Puzriakova Tag for-review was removed from gene: ANTXR2.
Fetal anomalies v1.836 ANKS6 Arina Puzriakova Tag for-review was removed from gene: ANKS6.
Fetal anomalies v1.836 AMMECR1 Arina Puzriakova Tag for-review was removed from gene: AMMECR1.
Fetal anomalies v1.836 AMACR Arina Puzriakova Tag for-review was removed from gene: AMACR.
Fetal anomalies v1.836 ALOXE3 Arina Puzriakova Tag for-review was removed from gene: ALOXE3.
Fetal anomalies v1.836 ALOX12B Arina Puzriakova Tag for-review was removed from gene: ALOX12B.
Fetal anomalies v1.836 ALG9 Arina Puzriakova Tag for-review was removed from gene: ALG9.
Fetal anomalies v1.836 ALG2 Arina Puzriakova Tag for-review was removed from gene: ALG2.
Fetal anomalies v1.836 AKT2 Arina Puzriakova Tag for-review was removed from gene: AKT2.
Fetal anomalies v1.836 AHCY Arina Puzriakova Tag for-review was removed from gene: AHCY.
Fetal anomalies v1.836 ADAMTS3 Arina Puzriakova Tag for-review was removed from gene: ADAMTS3.
Fetal anomalies v1.836 ABL1 Arina Puzriakova Tag for-review was removed from gene: ABL1.
Fetal anomalies v1.836 ZSWIM6 Arina Puzriakova commented on gene: ZSWIM6
Fetal anomalies v1.836 ZMYND10 Arina Puzriakova commented on gene: ZMYND10
Fetal anomalies v1.836 XYLT2 Arina Puzriakova commented on gene: XYLT2
Fetal anomalies v1.836 WDR81 Arina Puzriakova commented on gene: WDR81: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 WDR73 Arina Puzriakova commented on gene: WDR73
Fetal anomalies v1.836 VRK1 Arina Puzriakova commented on gene: VRK1
Fetal anomalies v1.836 VEGFC Arina Puzriakova commented on gene: VEGFC
Fetal anomalies v1.836 VAMP1 Arina Puzriakova commented on gene: VAMP1
Fetal anomalies v1.836 USP9X Arina Puzriakova commented on gene: USP9X
Fetal anomalies v1.836 USP18 Arina Puzriakova commented on gene: USP18: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 UBE2T Arina Puzriakova commented on gene: UBE2T
Fetal anomalies v1.836 TXNDC15 Arina Puzriakova commented on gene: TXNDC15
Fetal anomalies v1.836 TUBGCP4 Arina Puzriakova commented on gene: TUBGCP4
Fetal anomalies v1.836 TUBG1 Arina Puzriakova commented on gene: TUBG1
Fetal anomalies v1.836 TUBB3 Arina Puzriakova commented on gene: TUBB3
Fetal anomalies v1.836 TSFM Arina Puzriakova commented on gene: TSFM
Fetal anomalies v1.836 TSEN34 Arina Puzriakova commented on gene: TSEN34
Fetal anomalies v1.836 TSEN2 Arina Puzriakova commented on gene: TSEN2
Fetal anomalies v1.836 TRMT10A Arina Puzriakova commented on gene: TRMT10A
Fetal anomalies v1.836 TRAPPC12 Arina Puzriakova commented on gene: TRAPPC12: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TRAP1 Arina Puzriakova commented on gene: TRAP1
Fetal anomalies v1.836 TRAIP Arina Puzriakova commented on gene: TRAIP
Fetal anomalies v1.836 TRAF3IP1 Arina Puzriakova commented on gene: TRAF3IP1
Fetal anomalies v1.836 TOR1A Arina Puzriakova commented on gene: TOR1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TOE1 Arina Puzriakova commented on gene: TOE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TNNT3 Arina Puzriakova commented on gene: TNNT3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TMX2 Arina Puzriakova commented on gene: TMX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TMEM98 Arina Puzriakova commented on gene: TMEM98: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TMEM38B Arina Puzriakova commented on gene: TMEM38B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TMEM216 Arina Puzriakova commented on gene: TMEM216: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TMEM107 Arina Puzriakova commented on gene: TMEM107: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TENM3 Arina Puzriakova commented on gene: TENM3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TELO2 Arina Puzriakova commented on gene: TELO2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TCTEX1D2 Arina Puzriakova commented on gene: TCTEX1D2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TBC1D32 Arina Puzriakova commented on gene: TBC1D32: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SULT2B1 Arina Puzriakova commented on gene: SULT2B1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SUFU Arina Puzriakova commented on gene: SUFU: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 STRADA Arina Puzriakova commented on gene: STRADA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 STIL Arina Puzriakova commented on gene: STIL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 STAC3 Arina Puzriakova commented on gene: STAC3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ST14 Arina Puzriakova commented on gene: ST14: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SPECC1L Arina Puzriakova commented on gene: SPECC1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SPARC Arina Puzriakova commented on gene: SPARC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SP7 Arina Puzriakova commented on gene: SP7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SOX6 Arina Puzriakova commented on gene: SOX6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SOX18 Arina Puzriakova commented on gene: SOX18: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SNX10 Arina Puzriakova commented on gene: SNX10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SMS Arina Puzriakova commented on gene: SMS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SMPD4 Arina Puzriakova commented on gene: SMPD4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SMG9 Arina Puzriakova commented on gene: SMG9
Fetal anomalies v1.836 SMARCE1 Arina Puzriakova commented on gene: SMARCE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SMARCC1 Arina Puzriakova commented on gene: SMARCC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SLC6A9 Arina Puzriakova commented on gene: SLC6A9: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SLC5A7 Arina Puzriakova commented on gene: SLC5A7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SLC29A3 Arina Puzriakova commented on gene: SLC29A3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SLC25A19 Arina Puzriakova commented on gene: SLC25A19: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SLC18A3 Arina Puzriakova commented on gene: SLC18A3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SIX6 Arina Puzriakova commented on gene: SIX6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SHANK3 Arina Puzriakova commented on gene: SHANK3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SGCG Arina Puzriakova commented on gene: SGCG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SERPINH1 Arina Puzriakova commented on gene: SERPINH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SERPINF1 Arina Puzriakova commented on gene: SERPINF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SEC24D Arina Puzriakova commented on gene: SEC24D
Fetal anomalies v1.836 SDR9C7 Arina Puzriakova commented on gene: SDR9C7
Fetal anomalies v1.836 SCN1A Arina Puzriakova commented on gene: SCN1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SCLT1 Arina Puzriakova commented on gene: SCLT1
Fetal anomalies v1.836 RSPH9 Arina Puzriakova commented on gene: RSPH9
Fetal anomalies v1.836 RSPH4A Arina Puzriakova commented on gene: RSPH4A
Fetal anomalies v1.836 RRAS2 Arina Puzriakova commented on gene: RRAS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RPS7 Arina Puzriakova commented on gene: RPS7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RPS24 Arina Puzriakova commented on gene: RPS24: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RPL35A Arina Puzriakova commented on gene: RPL35A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RPL10 Arina Puzriakova commented on gene: RPL10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ROBO3 Arina Puzriakova commented on gene: ROBO3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RFT1 Arina Puzriakova commented on gene: RFT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RBM10 Arina Puzriakova commented on gene: RBM10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RBBP8 Arina Puzriakova commented on gene: RBBP8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RAB33B Arina Puzriakova commented on gene: RAB33B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PYGM Arina Puzriakova commented on gene: PYGM: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PTPN14 Arina Puzriakova commented on gene: PTPN14: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PSAT1 Arina Puzriakova commented on gene: PSAT1
Fetal anomalies v1.836 PRUNE1 Arina Puzriakova commented on gene: PRUNE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PRKAG2 Arina Puzriakova commented on gene: PRKAG2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PRIM1 Arina Puzriakova commented on gene: PRIM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 POP1 Arina Puzriakova commented on gene: POP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 POLR1B Arina Puzriakova commented on gene: POLR1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 POLR1A Arina Puzriakova commented on gene: POLR1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 POLG2 Arina Puzriakova commented on gene: POLG2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 POLE Arina Puzriakova commented on gene: POLE
Fetal anomalies v1.836 PNPLA1 Arina Puzriakova commented on gene: PNPLA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PLG Arina Puzriakova commented on gene: PLG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PLAG1 Arina Puzriakova commented on gene: PLAG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PITX1 Arina Puzriakova commented on gene: PITX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PIK3C2A Arina Puzriakova commented on gene: PIK3C2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PIH1D3 Arina Puzriakova commented on gene: PIH1D3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PIGN Arina Puzriakova commented on gene: PIGN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PIBF1 Arina Puzriakova commented on gene: PIBF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PGM3 Arina Puzriakova commented on gene: PGM3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PFKM Arina Puzriakova commented on gene: PFKM: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PBX1 Arina Puzriakova commented on gene: PBX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PAX7 Arina Puzriakova commented on gene: PAX7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 P4HB Arina Puzriakova commented on gene: P4HB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 OSGEP Arina Puzriakova commented on gene: OSGEP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NXN Arina Puzriakova commented on gene: NXN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NIPAL4 Arina Puzriakova commented on gene: NIPAL4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NEK8 Arina Puzriakova commented on gene: NEK8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NEDD4L Arina Puzriakova commented on gene: NEDD4L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NECTIN1 Arina Puzriakova commented on gene: NECTIN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NADSYN1 Arina Puzriakova commented on gene: NADSYN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYPN Arina Puzriakova commented on gene: MYPN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYOCD Arina Puzriakova commented on gene: MYOCD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYO9A Arina Puzriakova commented on gene: MYO9A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYO18B Arina Puzriakova commented on gene: MYO18B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYMK Arina Puzriakova commented on gene: MYMK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYL1 Arina Puzriakova commented on gene: MYL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYH7 Arina Puzriakova commented on gene: MYH7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYH2 Arina Puzriakova commented on gene: MYH2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MSTO1 Arina Puzriakova commented on gene: MSTO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MSMO1 Arina Puzriakova commented on gene: MSMO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MRAS Arina Puzriakova commented on gene: MRAS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MOGS Arina Puzriakova commented on gene: MOGS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MN1 Arina Puzriakova commented on gene: MN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MESD Arina Puzriakova commented on gene: MESD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MEOX1 Arina Puzriakova commented on gene: MEOX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MEIS2 Arina Puzriakova commented on gene: MEIS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MAP3K7 Arina Puzriakova commented on gene: MAP3K7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MAP3K20 Arina Puzriakova commented on gene: MAP3K20: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MACF1 Arina Puzriakova commented on gene: MACF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 LRRC56 Arina Puzriakova commented on gene: LRRC56: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 LONP1 Arina Puzriakova commented on gene: LONP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 LMNB2 Arina Puzriakova commented on gene: LMNB2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 LMNB1 Arina Puzriakova commented on gene: LMNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 LAMB1 Arina Puzriakova commented on gene: LAMB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KNL1 Arina Puzriakova commented on gene: KNL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KLHL7 Arina Puzriakova commented on gene: KLHL7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KIF5C Arina Puzriakova commented on gene: KIF5C: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KIF2A Arina Puzriakova commented on gene: KIF2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KIF14 Arina Puzriakova commented on gene: KIF14: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KIAA0753 Arina Puzriakova commented on gene: KIAA0753: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KATNB1 Arina Puzriakova commented on gene: KATNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ITGA8 Arina Puzriakova commented on gene: ITGA8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 IFT81 Arina Puzriakova commented on gene: IFT81: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 IFT52 Arina Puzriakova commented on gene: IFT52: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 IDH1 Arina Puzriakova commented on gene: IDH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ICK Arina Puzriakova commented on gene: ICK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 HMGA2 Arina Puzriakova commented on gene: HMGA2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 HIST1H1E Arina Puzriakova commented on gene: HIST1H1E: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 HESX1 Arina Puzriakova commented on gene: HESX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 HADHB Arina Puzriakova commented on gene: HADHB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GZF1 Arina Puzriakova commented on gene: GZF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GSC Arina Puzriakova commented on gene: GSC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GREB1L Arina Puzriakova commented on gene: GREB1L
Fetal anomalies v1.836 GPC6 Arina Puzriakova commented on gene: GPC6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GMNN Arina Puzriakova commented on gene: GMNN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GLI1 Arina Puzriakova commented on gene: GLI1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GFPT1 Arina Puzriakova commented on gene: GFPT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GATA3 Arina Puzriakova commented on gene: GATA3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GANAB Arina Puzriakova commented on gene: GANAB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GALNT2 Arina Puzriakova commented on gene: GALNT2
Fetal anomalies v1.836 FZD2 Arina Puzriakova commented on gene: FZD2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FUT8 Arina Puzriakova commented on gene: FUT8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FLNC Arina Puzriakova commented on gene: FLNC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FKBP10 Arina Puzriakova commented on gene: FKBP10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FIG4 Arina Puzriakova commented on gene: FIG4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FANCL Arina Puzriakova commented on gene: FANCL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FAM46A Arina Puzriakova commented on gene: FAM46A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EXTL3 Arina Puzriakova commented on gene: EXTL3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EXOC3L2 Arina Puzriakova commented on gene: EXOC3L2
Fetal anomalies v1.836 ENPP1 Arina Puzriakova commented on gene: ENPP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EMX2 Arina Puzriakova commented on gene: EMX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EML1 Arina Puzriakova commented on gene: EML1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EIF5A Arina Puzriakova commented on gene: EIF5A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EIF2S3 Arina Puzriakova commented on gene: EIF2S3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EED Arina Puzriakova commented on gene: EED: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DZIP1L Arina Puzriakova commented on gene: DZIP1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DYNC2LI1 Arina Puzriakova commented on gene: DYNC2LI1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DPM3 Arina Puzriakova commented on gene: DPM3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DPM2 Arina Puzriakova commented on gene: DPM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DONSON Arina Puzriakova commented on gene: DONSON: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNM2 Arina Puzriakova commented on gene: DNM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNM1L Arina Puzriakova commented on gene: DNM1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNAL1 Arina Puzriakova commented on gene: DNAL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNAJB11 Arina Puzriakova commented on gene: DNAJB11: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNAI2 Arina Puzriakova commented on gene: DNAI2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNAAF5 Arina Puzriakova commented on gene: DNAAF5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNAAF2 Arina Puzriakova commented on gene: DNAAF2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DLX5 Arina Puzriakova commented on gene: DLX5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DISP1 Arina Puzriakova commented on gene: DISP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DIAPH1 Arina Puzriakova commented on gene: DIAPH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DENND5A Arina Puzriakova commented on gene: DENND5A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DDX59 Arina Puzriakova commented on gene: DDX59: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CYP4F22 Arina Puzriakova commented on gene: CYP4F22: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CYP26B1 Arina Puzriakova commented on gene: CYP26B1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CTU2 Arina Puzriakova commented on gene: CTU2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CTNND1 Arina Puzriakova commented on gene: CTNND1
Fetal anomalies v1.836 CSF1R Arina Puzriakova commented on gene: CSF1R: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CRIPT Arina Puzriakova commented on gene: CRIPT: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CREB3L1 Arina Puzriakova commented on gene: CREB3L1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CRADD Arina Puzriakova commented on gene: CRADD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COLQ Arina Puzriakova commented on gene: COLQ: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COLEC10 Arina Puzriakova commented on gene: COLEC10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COL13A1 Arina Puzriakova commented on gene: COL13A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COL12A1 Arina Puzriakova commented on gene: COL12A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COG6 Arina Puzriakova commented on gene: COG6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COG5 Arina Puzriakova commented on gene: COG5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CLP1 Arina Puzriakova commented on gene: CLP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CIT Arina Puzriakova commented on gene: CIT: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CHRNE Arina Puzriakova commented on gene: CHRNE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CHRNB1 Arina Puzriakova commented on gene: CHRNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CHRNA3 Arina Puzriakova commented on gene: CHRNA3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CHMP1A Arina Puzriakova commented on gene: CHMP1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CFL2 Arina Puzriakova commented on gene: CFL2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CERS3 Arina Puzriakova commented on gene: CERS3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CEP63 Arina Puzriakova commented on gene: CEP63: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CEP55 Arina Puzriakova commented on gene: CEP55
Fetal anomalies v1.836 CEP135 Arina Puzriakova commented on gene: CEP135: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CENPF Arina Puzriakova commented on gene: CENPF: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CELSR1 Arina Puzriakova commented on gene: CELSR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CDK8 Arina Puzriakova commented on gene: CDK8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CDK5RAP2 Arina Puzriakova commented on gene: CDK5RAP2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CCDC88C Arina Puzriakova commented on gene: CCDC88C: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CCDC8 Arina Puzriakova commented on gene: CCDC8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CCDC151 Arina Puzriakova commented on gene: CCDC151: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CASR Arina Puzriakova commented on gene: CASR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CANT1 Arina Puzriakova commented on gene: CANT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CACNA1G Arina Puzriakova commented on gene: CACNA1G: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 C2CD3 Arina Puzriakova commented on gene: C2CD3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 C21orf59 Arina Puzriakova commented on gene: C21orf59: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 BNC2 Arina Puzriakova commented on gene: BNC2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 B9D2 Arina Puzriakova commented on gene: B9D2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 B4GAT1 Arina Puzriakova commented on gene: B4GAT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 B3GALNT2 Arina Puzriakova commented on gene: B3GALNT2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ATR Arina Puzriakova commented on gene: ATR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ATP1A2 Arina Puzriakova commented on gene: ATP1A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ARHGAP29 Arina Puzriakova commented on gene: ARHGAP29: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ARFGEF2 Arina Puzriakova commented on gene: ARFGEF2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ANTXR2 Arina Puzriakova commented on gene: ANTXR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ANKS6 Arina Puzriakova commented on gene: ANKS6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 AMMECR1 Arina Puzriakova commented on gene: AMMECR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 AMACR Arina Puzriakova commented on gene: AMACR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ALOXE3 Arina Puzriakova commented on gene: ALOXE3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ALOX12B Arina Puzriakova commented on gene: ALOX12B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ALG9 Arina Puzriakova commented on gene: ALG9
Fetal anomalies v1.836 ALG2 Arina Puzriakova commented on gene: ALG2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 AKT2 Arina Puzriakova commented on gene: AKT2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 AHCY Arina Puzriakova commented on gene: AHCY: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ADAMTS3 Arina Puzriakova commented on gene: ADAMTS3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ABL1 Arina Puzriakova commented on gene: ABL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.835 ZSWIM6 Arina Puzriakova Source Expert Review Green was added to ZSWIM6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ZMYND10 Arina Puzriakova Source Expert Review Green was added to ZMYND10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 XYLT2 Arina Puzriakova Source Expert Review Green was added to XYLT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 WDR81 Arina Puzriakova Source Expert Review Green was added to WDR81.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 WDR73 Arina Puzriakova Source Expert Review Green was added to WDR73.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 VRK1 Arina Puzriakova Source Expert Review Green was added to VRK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 VEGFC Arina Puzriakova Source Expert Review Green was added to VEGFC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 VAMP1 Arina Puzriakova Source Expert Review Green was added to VAMP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 USP9X Arina Puzriakova Source Expert Review Green was added to USP9X.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)