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Fetal anomalies v8.31 SIK3 Ida Ertmanska Phenotypes for gene: SIK3 were changed from spondyloepimetaphyseal dysplasia, Krakow type, MONDO:0032571; Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162; ?Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162 to spondyloepimetaphyseal dysplasia, Krakow type, MONDO:0032571; Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162
Fetal anomalies v8.30 SIK3 Ida Ertmanska Tag Q3_26_demote_amber tag was added to gene: SIK3.
Fetal anomalies v8.30 SHANK3 Ida Ertmanska Tag Q3_26_demote_amber tag was added to gene: SHANK3.
Fetal anomalies v8.30 ZNF292 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: ZNF292.
Fetal anomalies v8.30 ZNF148 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: ZNF148.
Fetal anomalies v8.30 ZFHX4 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: ZFHX4.
Fetal anomalies v8.30 XRCC2 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: XRCC2.
Fetal anomalies v8.30 WNT4 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: WNT4.
Fetal anomalies v8.30 UNC80 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: UNC80.
Fetal anomalies v8.30 UNC13A Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: UNC13A.
Fetal anomalies v8.30 TRA2B Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: TRA2B.
Fetal anomalies v8.30 TOPORS Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: TOPORS.
Fetal anomalies v8.30 TNNC2 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: TNNC2.
Fetal anomalies v8.30 TMEM161B Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: TMEM161B.
Fetal anomalies v8.30 TM2D3 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: TM2D3.
Fetal anomalies v8.30 SSR4 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: SSR4.
Fetal anomalies v8.30 SPATA5L1 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: SPATA5L1.
Fetal anomalies v8.30 SLC1A4 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: SLC1A4.
Fetal anomalies v8.30 SEC31A Ida Ertmanska Phenotypes for gene: SEC31A were changed from ?Halperin-Birk syndrome, OMIM:618651; Halperin-Birk syndrome, OMIM:618651; neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MONDO:0032849 to Halperin-Birk syndrome, OMIM:618651; neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MONDO:0032849
Fetal anomalies v8.29 RPS6KC1 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: RPS6KC1.
Fetal anomalies v8.29 RPS28 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: RPS28.
Fetal anomalies v8.29 RHOA Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: RHOA.
Fetal anomalies v8.29 RHOA Ida Ertmanska Phenotypes for gene: RHOA were changed from Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727; Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, OMIM:618727 to Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, OMIM:618727
Fetal anomalies v8.28 QSER1 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: QSER1.
Fetal anomalies v8.28 QARS Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: QARS.
Fetal anomalies v8.28 PMS2 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: PMS2.
Fetal anomalies v8.28 PCDHGC4 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: PCDHGC4.
Fetal anomalies v8.28 PAK1 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: PAK1.
Fetal anomalies v8.28 NUBP2 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: NUBP2.
Fetal anomalies v8.28 NRCAM Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: NRCAM.
Fetal anomalies v8.28 NOTCH3 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: NOTCH3.
Fetal anomalies v8.28 NID1 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: NID1.
Fetal anomalies v8.28 NAE1 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: NAE1.
Fetal anomalies v8.28 MYCBP2 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: MYCBP2.
Fetal anomalies v8.28 MVK Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: MVK.
Fetal anomalies v8.28 MSH6 Ida Ertmanska Phenotypes for gene: MSH6 were changed from Mismatch repair cancer syndrome 3, OMIM:619097; Mismatch repair cancer syndrome 276300 to Mismatch repair cancer syndrome 3, OMIM:619097
Fetal anomalies v8.27 MSH6 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: MSH6.
Fetal anomalies v8.27 MSH2 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: MSH2.
Fetal anomalies v8.27 MLH1 Ida Ertmanska Phenotypes for gene: MLH1 were changed from Mismatch repair cancer syndrome 1, OMIM:276300; Mismatch repair cancer syndrome 276300 to Mismatch repair cancer syndrome 1, OMIM:276300
Fetal anomalies v8.26 MLH1 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: MLH1.
Fetal anomalies v8.26 MED16 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: MED16.
Fetal anomalies v8.26 KDM2A Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: KDM2A.
Fetal anomalies v8.26 GRK2 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: GRK2.
Fetal anomalies v8.26 FOXD2 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: FOXD2.
Fetal anomalies v8.26 FBXW11 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: FBXW11.
Fetal anomalies v8.26 EMC1 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: EMC1.
Fetal anomalies v8.26 DMRT2 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: DMRT2.
Fetal anomalies v8.26 DBR1 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: DBR1.
Fetal anomalies v8.26 CRNKL1 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: CRNKL1.
Fetal anomalies v8.26 COL27A1 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: COL27A1.
Fetal anomalies v8.26 CDK9 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: CDK9.
Fetal anomalies v8.26 BHLHE22 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: BHLHE22.
Fetal anomalies v8.26 ATRIP Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: ATRIP.
Fetal anomalies v8.26 ARSK Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: ARSK.
Fetal anomalies v8.26 ABAT Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: ABAT.
Fetal anomalies v8.26 DLG3 Ida Ertmanska commented on gene: DLG3
Fetal anomalies v8.26 PNPT1 Ida Ertmanska commented on gene: PNPT1
Fetal anomalies v8.26 HEATR3 Ida Ertmanska commented on gene: HEATR3
Fetal anomalies v8.26 SCN8A Ida Ertmanska commented on gene: SCN8A
Fetal anomalies v8.26 UNC45A Ida Ertmanska commented on gene: UNC45A
Fetal anomalies v8.26 SMAD6 Ida Ertmanska commented on gene: SMAD6
Fetal anomalies v8.26 UNC80 Ida Ertmanska commented on gene: UNC80
Fetal anomalies v8.26 WDR83 Ida Ertmanska commented on gene: WDR83
Fetal anomalies v8.26 ESRP2 Ida Ertmanska commented on gene: ESRP2
Fetal anomalies v8.26 UTRN Ida Ertmanska commented on gene: UTRN
Fetal anomalies v8.26 CAPN6 Ida Ertmanska commented on gene: CAPN6
Fetal anomalies v8.26 TMEM53 Ida Ertmanska commented on gene: TMEM53
Fetal anomalies v8.26 LOXL2 Ida Ertmanska commented on gene: LOXL2
Fetal anomalies v8.26 KIAA1217 Ida Ertmanska commented on gene: KIAA1217
Fetal anomalies v8.26 GH1 Ida Ertmanska commented on gene: GH1
Fetal anomalies v8.26 EXOSC10 Ida Ertmanska commented on gene: EXOSC10
Fetal anomalies v8.26 CIC Ida Ertmanska commented on gene: CIC
Fetal anomalies v8.26 SEC63 Ida Ertmanska commented on gene: SEC63
Fetal anomalies v8.26 TUBA4A Ida Ertmanska commented on gene: TUBA4A
Fetal anomalies v8.26 PPFIA2 Ida Ertmanska commented on gene: PPFIA2
Fetal anomalies v8.26 NCKAP1 Ida Ertmanska commented on gene: NCKAP1
Fetal anomalies v8.26 MFN2 Ida Ertmanska commented on gene: MFN2
Fetal anomalies v8.26 GJA4 Ida Ertmanska commented on gene: GJA4
Fetal anomalies v8.26 CUL1 Ida Ertmanska commented on gene: CUL1
Fetal anomalies v8.26 TRIM28 Ida Ertmanska commented on gene: TRIM28
Fetal anomalies v8.26 RPL35 Ida Ertmanska commented on gene: RPL35
Fetal anomalies v8.26 PGBD5 Ida Ertmanska commented on gene: PGBD5
Fetal anomalies v8.26 LGI1 Ida Ertmanska commented on gene: LGI1
Fetal anomalies v8.26 COPZ1 Ida Ertmanska commented on gene: COPZ1
Fetal anomalies v8.26 ZFPM1 Ida Ertmanska commented on gene: ZFPM1
Fetal anomalies v8.26 TSR2 Ida Ertmanska commented on gene: TSR2
Fetal anomalies v8.26 RPS15A Ida Ertmanska commented on gene: RPS15A
Fetal anomalies v8.26 TTBK1 Ida Ertmanska commented on gene: TTBK1
Fetal anomalies v8.26 RPS27 Ida Ertmanska commented on gene: RPS27
Fetal anomalies v8.26 KLHL20 Ida Ertmanska commented on gene: KLHL20
Fetal anomalies v8.26 ARHGAP35 Ida Ertmanska commented on gene: ARHGAP35
Fetal anomalies v8.26 FASTKD5 Ida Ertmanska commented on gene: FASTKD5
Fetal anomalies v8.26 RPL17 Ida Ertmanska commented on gene: RPL17
Fetal anomalies v8.26 TBCB Ida Ertmanska commented on gene: TBCB
Fetal anomalies v8.26 SEC23A Ida Ertmanska commented on gene: SEC23A
Fetal anomalies v8.26 NRIP1 Ida Ertmanska commented on gene: NRIP1
Fetal anomalies v8.26 CDK4 Ida Ertmanska commented on gene: CDK4
Fetal anomalies v8.26 TAF4 Ida Ertmanska commented on gene: TAF4
Fetal anomalies v8.26 RAPGEF2 Ida Ertmanska commented on gene: RAPGEF2
Fetal anomalies v8.26 MOCS3 Ida Ertmanska commented on gene: MOCS3
Fetal anomalies v8.26 GTF2H4 Ida Ertmanska commented on gene: GTF2H4
Fetal anomalies v8.26 CCP110 Ida Ertmanska commented on gene: CCP110
Fetal anomalies v8.26 RRP12 Ida Ertmanska commented on gene: RRP12
Fetal anomalies v8.26 EIF3A Ida Ertmanska commented on gene: EIF3A
Fetal anomalies v8.26 TTC1 Ida Ertmanska commented on gene: TTC1
Fetal anomalies v8.26 TSPYL1 Ida Ertmanska commented on gene: TSPYL1
Fetal anomalies v8.26 LOXL3 Ida Ertmanska commented on gene: LOXL3
Fetal anomalies v8.26 IGFALS Ida Ertmanska commented on gene: IGFALS
Fetal anomalies v8.26 HMGCS1 Ida Ertmanska commented on gene: HMGCS1
Fetal anomalies v8.26 WNT11 Ida Ertmanska commented on gene: WNT11
Fetal anomalies v8.26 UBR5 Ida Ertmanska commented on gene: UBR5
Fetal anomalies v8.26 RPS29 Ida Ertmanska commented on gene: RPS29
Fetal anomalies v8.26 NOS3 Ida Ertmanska commented on gene: NOS3
Fetal anomalies v8.26 NFE2L2 Ida Ertmanska commented on gene: NFE2L2
Fetal anomalies v8.26 MGRN1 Ida Ertmanska commented on gene: MGRN1
Fetal anomalies v8.26 ATXN7L3 Ida Ertmanska commented on gene: ATXN7L3
Fetal anomalies v8.26 SMARCA1 Ida Ertmanska commented on gene: SMARCA1
Fetal anomalies v8.26 RPL18 Ida Ertmanska commented on gene: RPL18
Fetal anomalies v8.26 OPA1 Ida Ertmanska commented on gene: OPA1
Fetal anomalies v8.26 NAA16 Ida Ertmanska commented on gene: NAA16
Fetal anomalies v8.26 MIPEP Ida Ertmanska commented on gene: MIPEP
Fetal anomalies v8.26 FGD5 Ida Ertmanska commented on gene: FGD5
Fetal anomalies v8.26 FAM50A Ida Ertmanska commented on gene: FAM50A
Fetal anomalies v8.26 ARNT2 Ida Ertmanska commented on gene: ARNT2
Fetal anomalies v8.26 MAP2K4 Ida Ertmanska commented on gene: MAP2K4
Fetal anomalies v8.26 FHL2 Ida Ertmanska commented on gene: FHL2
Fetal anomalies v8.26 COX18 Ida Ertmanska commented on gene: COX18
Fetal anomalies v8.26 NCAPG2 Ida Ertmanska commented on gene: NCAPG2
Fetal anomalies v8.26 FTH1 Ida Ertmanska commented on gene: FTH1
Fetal anomalies v8.26 ASTN1 Ida Ertmanska commented on gene: ASTN1
Fetal anomalies v8.26 ZFHX3 Ida Ertmanska commented on gene: ZFHX3
Fetal anomalies v8.26 SGSM3 Ida Ertmanska commented on gene: SGSM3
Fetal anomalies v8.26 RPL31 Ida Ertmanska commented on gene: RPL31
Fetal anomalies v8.26 PEG10 Ida Ertmanska commented on gene: PEG10
Fetal anomalies v8.26 MYMX Ida Ertmanska commented on gene: MYMX
Fetal anomalies v8.26 TPM1 Ida Ertmanska commented on gene: TPM1
Fetal anomalies v8.26 SEL1L Ida Ertmanska commented on gene: SEL1L
Fetal anomalies v8.26 RPL27 Ida Ertmanska commented on gene: RPL27
Fetal anomalies v8.26 CLASP1 Ida Ertmanska commented on gene: CLASP1
Fetal anomalies v8.26 TM2D3 Ida Ertmanska commented on gene: TM2D3
Fetal anomalies v8.26 SEC31A Ida Ertmanska commented on gene: SEC31A: This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Fetal anomalies v8.26 NUBP2 Ida Ertmanska commented on gene: NUBP2
Fetal anomalies v8.26 CDK9 Ida Ertmanska commented on gene: CDK9
Fetal anomalies v8.26 NRCAM Ida Ertmanska commented on gene: NRCAM
Fetal anomalies v8.26 UNC13A Ida Ertmanska commented on gene: UNC13A
Fetal anomalies v8.26 QSER1 Ida Ertmanska commented on gene: QSER1
Fetal anomalies v8.26 NOTCH3 Ida Ertmanska commented on gene: NOTCH3
Fetal anomalies v8.26 TOPORS Ida Ertmanska commented on gene: TOPORS
Fetal anomalies v8.26 TNNC2 Ida Ertmanska commented on gene: TNNC2
Fetal anomalies v8.26 FOXD2 Ida Ertmanska commented on gene: FOXD2
Fetal anomalies v8.26 DMRT2 Ida Ertmanska commented on gene: DMRT2
Fetal anomalies v8.26 ATRIP Ida Ertmanska commented on gene: ATRIP
Fetal anomalies v8.26 ZNF292 Ida Ertmanska commented on gene: ZNF292
Fetal anomalies v8.26 TMEM161B Ida Ertmanska commented on gene: TMEM161B
Fetal anomalies v8.26 SSR4 Ida Ertmanska commented on gene: SSR4
Fetal anomalies v8.26 SPATA5L1 Ida Ertmanska commented on gene: SPATA5L1
Fetal anomalies v8.26 RPS6KC1 Ida Ertmanska commented on gene: RPS6KC1
Fetal anomalies v8.26 PAK1 Ida Ertmanska commented on gene: PAK1
Fetal anomalies v8.26 DBR1 Ida Ertmanska commented on gene: DBR1
Fetal anomalies v8.26 RPS28 Ida Ertmanska commented on gene: RPS28
Fetal anomalies v8.26 XRCC2 Ida Ertmanska commented on gene: XRCC2
Fetal anomalies v8.26 SLC1A4 Ida Ertmanska commented on gene: SLC1A4
Fetal anomalies v8.26 GRK2 Ida Ertmanska commented on gene: GRK2
Fetal anomalies v8.26 NAE1 Ida Ertmanska commented on gene: NAE1
Fetal anomalies v8.26 ARSK Ida Ertmanska commented on gene: ARSK
Fetal anomalies v8.26 ZNF148 Ida Ertmanska commented on gene: ZNF148
Fetal anomalies v8.26 MED16 Ida Ertmanska commented on gene: MED16
Fetal anomalies v8.26 CRNKL1 Ida Ertmanska commented on gene: CRNKL1
Fetal anomalies v8.26 TRA2B Ida Ertmanska commented on gene: TRA2B
Fetal anomalies v8.26 ZFHX4 Ida Ertmanska commented on gene: ZFHX4
Fetal anomalies v8.26 PCDHGC4 Ida Ertmanska commented on gene: PCDHGC4
Fetal anomalies v8.26 MYCBP2 Ida Ertmanska commented on gene: MYCBP2
Fetal anomalies v8.26 KDM2A Ida Ertmanska commented on gene: KDM2A
Fetal anomalies v8.26 ABAT Ida Ertmanska commented on gene: ABAT
Fetal anomalies v8.26 SIK3 Ida Ertmanska commented on gene: SIK3
Fetal anomalies v8.26 SHANK3 Ida Ertmanska commented on gene: SHANK3
Fetal anomalies v8.26 TBX6 Ida Ertmanska commented on gene: TBX6
Fetal anomalies v8.26 EIF3B Ida Ertmanska commented on gene: EIF3B
Fetal anomalies v8.26 GSPT2 Ida Ertmanska commented on gene: GSPT2
Fetal anomalies v8.26 STAT3 Ida Ertmanska commented on gene: STAT3
Fetal anomalies v8.26 UBTF Ida Ertmanska commented on gene: UBTF
Fetal anomalies v8.26 GRHL2 Ida Ertmanska commented on gene: GRHL2: This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Fetal anomalies v8.26 SLC22A5 Ida Ertmanska commented on gene: SLC22A5
Fetal anomalies v8.26 MSH6 Ida Ertmanska commented on gene: MSH6
Fetal anomalies v8.26 RHOA Ida Ertmanska commented on gene: RHOA
Fetal anomalies v8.26 MSH2 Ida Ertmanska commented on gene: MSH2
Fetal anomalies v8.26 EMC1 Ida Ertmanska commented on gene: EMC1
Fetal anomalies v8.26 MLH1 Ida Ertmanska commented on gene: MLH1
Fetal anomalies v8.26 WNT4 Ida Ertmanska commented on gene: WNT4
Fetal anomalies v8.26 NID1 Ida Ertmanska commented on gene: NID1
Fetal anomalies v8.26 QARS Ida Ertmanska commented on gene: QARS
Fetal anomalies v8.26 MVK Ida Ertmanska commented on gene: MVK
Fetal anomalies v8.26 BHLHE22 Ida Ertmanska commented on gene: BHLHE22
Fetal anomalies v8.26 PMS2 Ida Ertmanska commented on gene: PMS2
Fetal anomalies v8.26 FBXW11 Ida Ertmanska commented on gene: FBXW11
Fetal anomalies v8.26 COL27A1 Ida Ertmanska commented on gene: COL27A1
Fetal anomalies v8.25 DLG3 Louise Carr reviewed gene: DLG3: Rating: RED; Mode of pathogenicity: ; Publications: 38249294, 40983642; Phenotypes: intellectual disability, X-linked 90, MONDO:0010452, Intellectual developmental disorder, X-linked 90, OMIM:300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v8.25 PNPT1 Beth Young reviewed gene: PNPT1: Rating: RED; Mode of pathogenicity: ; Publications: 37861028; Phenotypes: combined oxidative phosphorylation defect type 13, MONDO:0013977, Combined oxidative phosphorylation deficiency 13, OMIM:614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 HEATR3 Vicki Harrison reviewed gene: HEATR3: Rating: AMBER; Mode of pathogenicity: ; Publications: 35213692; Phenotypes: Diamond-Blackfan anemia 21, OMIM:620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 SCN8A Sunayna Best reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: 31026061, 27659738; Phenotypes: developmental and epileptic encephalopathy, 13, MONDO:0013801, Developmental and epileptic encephalopathy 13, OMIM:614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 UNC45A Sarah Graham edited their review of gene: UNC45A: Added comment: Biallelic variants associated with osteootohepatoenteric syndrome - bone fragility, hearing loss, cholestasis, and congenital diarrhea. Generally presents in the neonatal period; reviewed as red in 2025. One new report of compound heterozygous variants in an affected infant where late-pregnancy ultrasound showed polyhydramnios and diffuse intestinal dilation (PMID: 41081434).; Changed rating: AMBER; Changed publications to: 41081434, 29429573; Changed phenotypes to: Osteootohepatoenteric syndrome, MIM#619377, Osteootohepatoenteric syndrome, OMIM:619377
Fetal anomalies v8.25 SMAD6 Beth Young reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: ; Publications: 41139937; Phenotypes: Brain and cardiac abnormalities, syndromic disease, MONDO:0002254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 UNC80 Sunayna Best reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: ; Publications: 40801661, 41458659, 40048676; Phenotypes: hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MONDO:0014777, Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 WDR83 Vicki Harrison reviewed gene: WDR83: Rating: RED; Mode of pathogenicity: ; Publications: 4138179; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 ESRP2 Vicki Harrison reviewed gene: ESRP2: Rating: RED; Mode of pathogenicity: ; Publications: 39179789; Phenotypes: orofacial cleft, MONDO:0000358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 UTRN Tessa Homfray reviewed gene: UTRN: Rating: RED; Mode of pathogenicity: ; Publications: 20583184, 41244983; Phenotypes: arthrogryposis, MONDO:0008779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 CAPN6 Soo-Mi Park reviewed gene: CAPN6: Rating: RED; Mode of pathogenicity: ; Publications: 41683570; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v8.25 TMEM53 Sarah Graham reviewed gene: TMEM53: Rating: RED; Mode of pathogenicity: ; Publications: 33824347, 39300972, 40767825, 40680154, 39084544, 39901041; Phenotypes: craniotubular dysplasia, Ikegawa type, MONDO:0859226, Craniotubular dysplasia, Ikegawa type, OMIM:619727; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 LOXL2 Sarah Graham reviewed gene: LOXL2: Rating: RED; Mode of pathogenicity: ; Publications: 37345575; Phenotypes: cephalocele, MONDO:0017078, Encephalocele; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 KIAA1217 Sarah Graham reviewed gene: KIAA1217: Rating: RED; Mode of pathogenicity: ; Publications: 32369272; Phenotypes: vertebral disorder, MONDO:0045002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v8.25 GH1 Sarah Graham reviewed gene: GH1: Rating: RED; Mode of pathogenicity: ; Publications: 24497717, 41073961; Phenotypes: Growth hormone deficiency, isolated, type II, OMIM:173100, Growth hormone deficiency, isolated, type IB, OMIM:612781, Growth hormone deficiency, isolated, type IA, OMIM:262400; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v8.25 EXOSC10 Sarah Graham reviewed gene: EXOSC10: Rating: RED; Mode of pathogenicity: ; Publications: 41132091; Phenotypes: Microcephaly, MONDO:0001149; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 CIC Sarah Graham reviewed gene: CIC: Rating: RED; Mode of pathogenicity: ; Publications: 28288114, 41836057; Phenotypes: Intellectual developmental disorder, autosomal dominant 45, OMIM:617600, intellectual developmental disorder, autosomal dominant 45, MONDO:0030910; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v8.25 SEC63 Natalie Chandler reviewed gene: SEC63: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: polycystic liver disease 2, MONDO:0014860, Polycystic liver disease 2, OMIM:617004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TUBA4A Natalie Canham reviewed gene: TUBA4A: Rating: RED; Mode of pathogenicity: ; Publications: 40666348, 38413182; Phenotypes: Congenital myopathy 26, MONDO:0979229, Congenital myopathy 26, OMIM:621225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 PPFIA2 Natalie Canham reviewed gene: PPFIA2: Rating: RED; Mode of pathogenicity: ; Publications: 41044885; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 NCKAP1 Natalie Canham reviewed gene: NCKAP1: Rating: RED; Mode of pathogenicity: ; Publications: 41462819; Phenotypes: congenital heart disease, MONDO:0005453, neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 MFN2 Natalie Canham reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: ; Publications: 37804319; Phenotypes: lissencephaly spectrum disorders, MONDO:0018838, antenatal encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 GJA4 Natalie Canham reviewed gene: GJA4: Rating: RED; Mode of pathogenicity: ; Publications: 41416265; Phenotypes: Thickened nuchal skin fold, HP:0000474; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 CUL1 Natalie Canham reviewed gene: CUL1: Rating: RED; Mode of pathogenicity: ; Publications: 41189326; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TRIM28 Louise Carr reviewed gene: TRIM28: Rating: RED; Mode of pathogenicity: ; Publications: 29912901, 30885698, 30694527; Phenotypes: Wilms tumor 7, OMIM:621332, Wilms tumor 7, MONDO:0979876; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 RPL35 Louise Carr reviewed gene: RPL35: Rating: RED; Mode of pathogenicity: ; Publications: 28280134; Phenotypes: Diamond-Blackfan anemia 19. OMIM:618312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 PGBD5 Louise Carr reviewed gene: PGBD5: Rating: RED; Mode of pathogenicity: ; Publications: 41533792; Phenotypes: Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, OMIM:621482, neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MONDO:0980968; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 LGI1 Louise Carr reviewed gene: LGI1: Rating: RED; Mode of pathogenicity: ; Publications: 40455867, 11810107, 41000458; Phenotypes: Developmental and epileptic encephalopathy 121, OMIM:621475, developmental and epileptic encephalopathy 121, MONDO:0980966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 COPZ1 Louise Carr reviewed gene: COPZ1: Rating: RED; Mode of pathogenicity: ; Publications: 39642330; Phenotypes: Neutropenia, severe congenital, 12, autosomal recessive, OMIM:621439, neutropenia, severe congenital, 12, autosomal recessive, MONDO:0980936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 ZFPM1 Esther Kinning reviewed gene: ZFPM1: Rating: RED; Mode of pathogenicity: ; Publications: 41813389; Phenotypes: congenital heart disease, MONDO:0005453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TSR2 Esther Kinning reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: ; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, OMIM:300946, Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MONDO:0010493; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v8.25 RPS15A Esther Kinning reviewed gene: RPS15A: Rating: RED; Mode of pathogenicity: ; Publications: 27909223; Phenotypes: Diamond-Blackfan anemia 20, OMIM:618313; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TTBK1 Beth Young reviewed gene: TTBK1: Rating: RED; Mode of pathogenicity: ; Publications: 41545183; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 RPS27 Beth Young reviewed gene: RPS27: Rating: RED; Mode of pathogenicity: ; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 17, OMIM:617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 KLHL20 Anna de Burca reviewed gene: KLHL20: Rating: RED; Mode of pathogenicity: ; Publications: 36214804, 38513146; Phenotypes: neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MONDO:0980709, Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, OMIM:621390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 ARHGAP35 Anna de Burca reviewed gene: ARHGAP35: Rating: RED; Mode of pathogenicity: ; Publications: 41714291, 36178483; Phenotypes: Acrania-exencephaly-anencephaly sequence, a rare uniformaly lethal and progressive neural defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 FASTKD5 Alice Gardham reviewed gene: FASTKD5: Rating: RED; Mode of pathogenicity: ; Publications: 40499538; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 24, OMIM:621431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 RPL17 Vicki Harrison reviewed gene: RPL17: Rating: AMBER; Mode of pathogenicity: ; Publications: 39088281; Phenotypes: Diamond-Blackfan anemia 22, OMIM:621262; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TBCB Tessa Homfray reviewed gene: TBCB: Rating: AMBER; Mode of pathogenicity: ; Publications: 40856104; Phenotypes: neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia, MONDO:0980706, Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia, OMIM:621382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 SEC23A Tessa Homfray reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: ; Publications: 16980978, 38275611, 16980979, 21039434, 34580982, 26494538, 37828500, 27148587; Phenotypes: Craniolenticulosutural dysplasia, OMIM:607812, craniolenticulosutural dysplasia, MONDO:0011911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 NRIP1 Tessa Homfray reviewed gene: NRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 41868040, 34525250, 28381549; Phenotypes: Congenital anomalies of kidney and urinary tract 3, OMIM:618270, congenital anomalies of kidney and urinary tract 3, MONDO:0032646; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 CDK4 Tessa Homfray reviewed gene: CDK4: Rating: AMBER; Mode of pathogenicity: ; Publications: 40210435; Phenotypes: microcephaly 31, primary, autosomal recessive, MONDO:0980991, Short stature, HP:0004322, Microcephaly 31, primary, autosomal recessive, OMIM:621507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 TAF4 Sunayna Best reviewed gene: TAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: 41454640, 28191890, 35904126, 33875846; Phenotypes: intellectual developmental disorder, autosomal dominant 73, MONDO:0957536, Intellectual developmental disorder, autosomal dominant 73, OMIM:620450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 RAPGEF2 Sunayna Best reviewed gene: RAPGEF2: Rating: AMBER; Mode of pathogenicity: ; Publications: 41556274; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 MOCS3 Sunayna Best reviewed gene: MOCS3: Rating: AMBER; Mode of pathogenicity: ; Publications: 33897766, 39695700, 36296488, 28544736; Phenotypes: Molybdenum cofactor deficiency, type B2, OMIM:621373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 GTF2H4 Sunayna Best reviewed gene: GTF2H4: Rating: AMBER; Mode of pathogenicity: ; Publications: 40924475; Phenotypes: xeroderma pigmentosum, complementation group J, MONDO:0980987, Xeroderma pigmentosum, complementation group J, OMIM:621435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 CCP110 Sunayna Best reviewed gene: CCP110: Rating: AMBER; Mode of pathogenicity: ; Publications: 26965371, 38857829; Phenotypes: ciliopathy, MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 RRP12 Soo-Mi Park reviewed gene: RRP12: Rating: AMBER; Mode of pathogenicity: ; Publications: 42144846, 41059649; Phenotypes: basal ganglia calcification, idiopathic, 11, autosomal recessive, MONDO:0980939, Basal ganglia calcification, idiopathic, 11, autosomal recessive, OMIM:621452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 EIF3A Soo-Mi Park reviewed gene: EIF3A: Rating: AMBER; Mode of pathogenicity: ; Publications: 41033306, 34179316; Phenotypes: syndromic disease, MONDO:0002254, Cardiovascular, craniofacial, and neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TTC1 Sarah Graham reviewed gene: TTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26539891, 40879651; Phenotypes: pontocerebellar hypoplasia, MONDO:0020135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 TSPYL1 Sarah Graham reviewed gene: TSPYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32885560, 15273283, 33075815, 36082874; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome, OMIM:608800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 LOXL3 Sarah Graham reviewed gene: LOXL3: Rating: AMBER; Mode of pathogenicity: ; Publications: 34787502, 30362103, 36610533, 26307084, 41052910, 38957076, 26957899, 25663169; Phenotypes: Stickler syndrome, MONDO:0019354; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 IGFALS Sarah Graham reviewed gene: IGFALS: Rating: AMBER; Mode of pathogenicity: ; Publications: 25352235; Phenotypes: short stature due to primary acid-labile subunit deficiency, MONDO:0014420, Acid-labile subunit, deficiency of, OMIM:615961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 HMGCS1 Sarah Graham reviewed gene: HMGCS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39531736; Phenotypes: congenital myopathy 28 with rigid spine, MONDO:0980756, Congenital myopathy 28 with rigid spine, OMIM:621433, Congenital myopathy 28 with rigid spine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 WNT11 Natalie Chandler reviewed gene: WNT11: Rating: AMBER; Mode of pathogenicity: ; Publications: 34875064, 38275609, 40200693; Phenotypes: osteopetrosis, MONDO:0017198; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 UBR5 Natalie Chandler reviewed gene: UBR5: Rating: AMBER; Mode of pathogenicity: ; Publications: 39721588; Phenotypes: Neurodevelopmental disorder with speech delay and behavioral abnormalities, OMIM:621372; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 RPS29 Natalie Chandler reviewed gene: RPS29: Rating: AMBER; Mode of pathogenicity: ; Publications: 39691264, 24829207; Phenotypes: Diamond-Blackfan anemia 13, MONDO:0014394, Diamond-Blackfan anemia 13, OMIM:615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 NOS3 Natalie Chandler reviewed gene: NOS3: Rating: AMBER; Mode of pathogenicity: ; Publications: 37383439, 36941667; Phenotypes: Moyamoya disease 8, OMIM:621469, Moyamoya disease 8, MONDO:0980949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 NFE2L2 Natalie Chandler reviewed gene: NFE2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29018201; Phenotypes: Immunodeficiency, developmental delay, and hypohomocysteinemia, OMIM:617744, immunodeficiency, developmental delay, and hypohomocysteinemia, MONDO:0060591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 MGRN1 Natalie Chandler reviewed gene: MGRN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 41781207; Phenotypes: visceral heterotaxy, MONDO:0018677; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 ATXN7L3 Natalie Chandler reviewed gene: ATXN7L3: Rating: AMBER; Mode of pathogenicity: ; Publications: 38753057; Phenotypes: Harel-Tora neurodevelopmental syndrome, OMIM:621377, Harel-Tora neurodevelopmental syndrome, MONDO:0980703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 SMARCA1 Natalie Canham reviewed gene: SMARCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 41213919; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v8.25 RPL18 Louise Carr reviewed gene: RPL18: Rating: AMBER; Mode of pathogenicity: ; Publications: 32075953, 28280134; Phenotypes: Diamond-Blackfan anemia 18, OMIM:618310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 OPA1 Louise Carr reviewed gene: OPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26561570, 39233737; Phenotypes: Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type), OMIM:616896, Mitochondrial DNA depletion syndrome 14A (encephalomyopathic type), OMIM:621481; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v8.25 NAA16 Louise Carr reviewed gene: NAA16: Rating: AMBER; Mode of pathogenicity: ; Publications: 28991257, 41148812, 23665959; Phenotypes: congenital heart disease, MONDO:0005453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 MIPEP Louise Carr reviewed gene: MIPEP: Rating: AMBER; Mode of pathogenicity: ; Publications: 27799064, 34620555, 36727025; Phenotypes: lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, MONDO:0014976, Combined oxidative phosphorylation deficiency-31, OMIM:617228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 FGD5 Louise Carr reviewed gene: FGD5: Rating: AMBER; Mode of pathogenicity: ; Publications: 41574350, 41199744, 30232381, 32037394; Phenotypes: Congenital heart disease, tetralogy of Fallout (TOF), peripheral pulmonary artery stenosis (PPS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 FAM50A Louise Carr reviewed gene: FAM50A: Rating: AMBER; Mode of pathogenicity: ; Publications: 32703943; Phenotypes: Armfield type of X-linked syndromic intellectual developmental disorder, OMIM:300261; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v8.25 ARNT2 Louise Carr reviewed gene: ARNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 24022475, 11247670, 41363294; Phenotypes: Webb-Dattani syndrome, OMIM:615926, Webb-Dattani syndrome, MONDO:0014404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 MAP2K4 Esther Kinning reviewed gene: MAP2K4: Rating: AMBER; Mode of pathogenicity: ; Publications: 41480045; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 FHL2 Esther Kinning reviewed gene: FHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 41039806, 36854411, 25358972; Phenotypes: Congential dilated cardiomyopathy, dilated cardiomyopathy, MONDO:0005021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 COX18 Esther Kinning reviewed gene: COX18: Rating: AMBER; Mode of pathogenicity: ; Publications: 37468577; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 25, OMIM:621487, neonatal hypertrophic cardiomyopathy, mitochondrial complex IV deficiency, nuclear-type, MONDO:0033885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 NCAPG2 Beth Young reviewed gene: NCAPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30609410; Phenotypes: Khan-Khan-Katsanis syndrome, MONDO:0032764, Khan-Khan-Katsanis syndrome, OMIM:618460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 FTH1 Beth Young reviewed gene: FTH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 37660254, 41551370; Phenotypes: Neurodegeneration with brain iron accumulation-9, OMIM:620669, neurodegeneration with brain iron accumulation 9, MONDO:0958012; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 ASTN1 Beth Young reviewed gene: ASTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 41544630; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 ZFHX3 Anna de Burca reviewed gene: ZFHX3: Rating: AMBER; Mode of pathogenicity: ; Publications: 38412861, 41198152; Phenotypes: neural tube defect, MONDO:0018075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 SGSM3 Anna de Burca reviewed gene: SGSM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 84, OMIM:620401, intellectual developmental disorder, autosomal recessive 84, MONDO:0980746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 RPL31 Anna de Burca reviewed gene: RPL31: Rating: AMBER; Mode of pathogenicity: ; Publications: 25042156; Phenotypes: Diamond-Blackfan anemia, MONDO:0015253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 PEG10 Anna de Burca reviewed gene: PEG10: Rating: AMBER; Mode of pathogenicity: ; Publications: 41429883; Phenotypes: Silver-Russell syndrome, MONDO:0008394; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Fetal anomalies v8.25 MYMX Anna de Burca reviewed gene: MYMX: Rating: AMBER; Mode of pathogenicity: ; Publications: 39668186; Phenotypes: Carey-Fineman-Ziter syndrome 2, OMIM:619941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 TPM1 Alice Gardham edited their review of gene: TPM1: Added comment: I case of fetal cardiomyopathy in one paper. 2 ith LC non compation and hydrops in another -one with HLH and VSD.; Changed publications to: 40348118, 33553264; Changed phenotypes to: Cardiomyopathy, hypertrophic, 3, OMIM:115196, Left ventricular noncompaction 9, Cardiomyopathy, dilated, 1Y, OMIM:611878, Left ventricular noncompaction 9, OMIM:611878
Fetal anomalies v8.25 SEL1L Alice Gardham reviewed gene: SEL1L: Rating: AMBER; Mode of pathogenicity: ; Publications: 37943617, 37943610; Phenotypes: Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, OMIM:621068, neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, MONDO:0976131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 RPL27 Alice Gardham reviewed gene: RPL27: Rating: AMBER; Mode of pathogenicity: ; Publications: 38988374, 25424902; Phenotypes: Diamond-Blackfan anemia 16, OMIM:617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 CLASP1 Alice Gardham reviewed gene: CLASP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40343077, 39040917; Phenotypes: Lissencephaly, HP:0001339, focal epilepsy, MONDO:0005384; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v8.25 TM2D3 Vicki Harrison reviewed gene: TM2D3: Rating: GREEN; Mode of pathogenicity: ; Publications: 40449487; Phenotypes: Neurocardiorenal malformation syndrome, OMIM:621379, neurocardiorenal malformation syndrome, MONDO:0980704; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 SEC31A Vicki Harrison reviewed gene: SEC31A: Rating: GREEN; Mode of pathogenicity: ; Publications: 40508110, 39725565; Phenotypes: Halperin-Birk syndrome, OMIM:618651, neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MONDO:0032849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 NUBP2 Vicki Harrison reviewed gene: NUBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 39867373; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 CDK9 Vicki Harrison reviewed gene: CDK9: Rating: GREEN; Mode of pathogenicity: ; Publications: 26633546, 40954203, 33640901, 30237576; Phenotypes: CHARGE-like syndrome with retinal dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 NRCAM Sunayna Best reviewed gene: NRCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 35108495; Phenotypes: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 UNC13A Soo-Mi Park reviewed gene: UNC13A: Rating: GREEN; Mode of pathogenicity: ; Publications: 41125872, 36447687, 27648472; Phenotypes: Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455, neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MONDO:0980940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 QSER1 Soo-Mi Park reviewed gene: QSER1: Rating: GREEN; Mode of pathogenicity: ; Publications: 41139957; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 NOTCH3 Soo-Mi Park reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 41196431, 38824264, 25870235, 37688971; Phenotypes: Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, OMIM:621295, cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, MONDO:0979867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 TOPORS Sarah Graham reviewed gene: TOPORS: Rating: GREEN; Mode of pathogenicity: ; Publications: 40358237, 37227088, 34132027; Phenotypes: ciliopathy, MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 TNNC2 Sarah Graham reviewed gene: TNNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40560134, 33755597; Phenotypes: congenital myopathy 15, MONDO:0859335, Congenital myopathy 15, OMIM:620161; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v8.25 FOXD2 Sarah Graham reviewed gene: FOXD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38154558; Phenotypes: congenital anomaly of kidney and urinary tract, MONDO:0019719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 DMRT2 Sarah Graham reviewed gene: DMRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29681102, 41014130, 16387292; Phenotypes: spondylocostal dysostosis 7, autosomal recessive, MONDO:0981023, Spondylocostal dysostosis 7, autosomal recessive, OMIM:621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 ATRIP Sarah Graham reviewed gene: ATRIP: Rating: GREEN; Mode of pathogenicity: ; Publications: 40029331, 35568357, 23144622; Phenotypes: Seckel syndrome, MONDO:0019342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 ZNF292 Natalie Chandler reviewed gene: ZNF292: Rating: GREEN; Mode of pathogenicity: ; Publications: 40777882, 31723249, 41153384; Phenotypes: Intellectual developmental disorder, autosomal dominant 64, OMIM:619188, intellectual developmental disorder, autosomal dominant 64, MONDO:0030934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TMEM161B Natalie Chandler reviewed gene: TMEM161B: Rating: GREEN; Mode of pathogenicity: ; Publications: 36669109, 36669111; Phenotypes: polymicrogyria, MONDO:0000087, Microcephaly, MONDO:0001149; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 SSR4 Natalie Chandler reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: ; Publications: 41441028, 38805916; Phenotypes: SSR4-congenital disorder of glycosylation, MONDO:0010490, Congenital disorder of glycosylation, type Iy, OMIM:300934; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v8.25 SPATA5L1 Natalie Chandler reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37902276, 41375745, 34626583; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616, neurodevelopmental disorder with hearing loss and spasticity, MONDO:0859206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 RPS6KC1 Natalie Chandler reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 41130203; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, OMIM:621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 PAK1 Natalie Chandler reviewed gene: PAK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 41124873, 36905087, 37820543, 31504246; Phenotypes: Intellectual developmental disorder with macrocephaly, seizures, and speech delay, OMIM:618158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 DBR1 Natalie Chandler reviewed gene: DBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40683339, 41366235, 29474921, 37656279; Phenotypes: xerosis and growth failure with immune and pulmonary dysfunction syndrome, MONDO:0957786, Xerosis and growth failure with immune and pulmonary dysfunction syndrome, OMIM:620510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 RPS28 Natalie Canham reviewed gene: RPS28: Rating: GREEN; Mode of pathogenicity: ; Publications: 40135709, 24942156; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, OMIM:606164, Diamond-Blackfan anemia 15 with mandibulofacial dysostosis, MONDO:0011639; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 XRCC2 Louise Carr reviewed gene: XRCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27208205, 42071175, 22232082, 30237576; Phenotypes: Fanconi anemia, complementation group U, OMIM:617247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 SLC1A4 Louise Carr reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25930971, 26138499, 37502193, 29989513, 27193218, 37194416, 31763347, 26041762, 34174466, 35605507; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657, spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, MONDO:0014725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 GRK2 Louise Carr reviewed gene: GRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38647386, 33200460; Phenotypes: Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 NAE1 Esther Kinning reviewed gene: NAE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36608681; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, OMIM:620210, neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MONDO:0859361; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 ARSK Esther Kinning reviewed gene: ARSK: Rating: GREEN; Mode of pathogenicity: ; Publications: 35959767, 34916232, 38292179; Phenotypes: Mucopolysaccharidosis, type X, OMIM:619698, mucopolysaccharidosis, type 10, MONDO:0030524; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 ZNF148 Beth Young reviewed gene: ZNF148: Rating: GREEN; Mode of pathogenicity: ; Publications: 37580113; Phenotypes: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, OMIM:617260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 MED16 Beth Young reviewed gene: MED16: Rating: GREEN; Mode of pathogenicity: ; Publications: 40081376; Phenotypes: Guillouet-Gordon syndrome, MONDO:0979227, Guillouet-Gordon syndrome, OMIM:621220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 CRNKL1 Beth Young reviewed gene: CRNKL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40857589; Phenotypes: Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436, microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MONDO:0980935; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TRA2B Anna de Burca reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ramond-Elliott neurodevelopmental syndrome, MONDO:0980751, Ramond-Elliott neurodevelopmental syndrome, OMIM:621421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 ZFHX4 Alice Gardham reviewed gene: ZFHX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 40367947, 39702590, 40657976; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 PCDHGC4 Alice Gardham reviewed gene: PCDHGC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 34244665; Phenotypes: Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 MYCBP2 Alice Gardham reviewed gene: MYCBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 41543631, 36200388, 41200582; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 KDM2A Alice Gardham reviewed gene: KDM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 41468891; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 ABAT Alice Gardham reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 41573381; Phenotypes: GABA-transaminase deficiency, OMIM:613163; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 SIK3 Sarah Graham reviewed gene: SIK3: Rating: AMBER; Mode of pathogenicity: ; Publications: 30232230, 22318228; Phenotypes: spondyloepimetaphyseal dysplasia, Krakow type, MONDO:0032571, Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 SHANK3 Sarah Graham reviewed gene: SHANK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Phelan-McDermid syndrome, OMIM:606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 TBX6 Natalie Chandler reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 31015262; Phenotypes: Spondylocostal dysostosis 5, OMIM:122600, spondylocostal dysostosis 5, MONDO:0007389; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v8.25 EIF3B Sunayna Best reviewed gene: EIF3B: Rating: AMBER; Mode of pathogenicity: ; Publications: 41033306; Phenotypes: syndromic disease, MONDO:0002254, Cardiovascular, craniofacial, and neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 GSPT2 Soo-Mi Park reviewed gene: GSPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 41420488, 28414775; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v8.25 STAT3 Sarah Graham reviewed gene: STAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections, OMIM:147060, Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952, hyper-IgE recurrent infection syndrome 1, autosomal dominant, MONDO:0007818, autoimmune disease, multisystem, infantile-onset, MONDO:0000213; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 UBTF Natalie Chandler reviewed gene: UBTF: Rating: AMBER; Mode of pathogenicity: ; Publications: 41534641; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 GRHL2 Natalie Chandler reviewed gene: GRHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 25152456, 41172132; Phenotypes: Ectodermal dysplasia/short stature syndrome, OMIM:616029, cleft palate, MONDO:0016064; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v8.25 SLC22A5 Esther Kinning reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: 36535739, 33082562; Phenotypes: Carnitine deficiency, systemic primary, OMIM:212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 MSH6 Vicki Harrison reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: 28562508, 24737826, 38912246, 38981890, 32354708, 17993636, 22692065, 30166433, 33247381; Phenotypes: Mismatch repair cancer syndrome 3, OMIM:619097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 RHOA Tessa Homfray reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: ; Publications: 41153384; Phenotypes: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, OMIM:618727; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 MSH2 Tessa Homfray reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28562508, 24737826, 38912246, 38981890, 32354708, 17993636, 22692065, 30166433, 33247381; Phenotypes: Mismatch repair cancer syndrome 2, OMIM:619096; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 EMC1 Tessa Homfray reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36799557, 38161285, 29271071, 32092440, 26942288; Phenotypes: cerebellar atrophy, visual impairment, and psychomotor retardation , MONDO:0014811, Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v8.25 MLH1 Soo-Mi Park reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28562508, 24737826, 38912246, 38981890, 32354708, 17993636, 22692065, 30166433, 33247381; Phenotypes: Mismatch repair cancer syndrome 1, OMIM:276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 WNT4 Sarah Graham reviewed gene: WNT4: Rating: GREEN; Mode of pathogenicity: ; Publications: 40992710, 18179883; Phenotypes: SERKAL syndrome, OMIM:611812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 NID1 Sarah Graham reviewed gene: NID1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30773799, 25558065, 36702440, 12480912, 23674478; Phenotypes: Dandy-Walker malformation with occiptal cephalocele, OMIM:609222, Dandy-Walker syndrome, MONDO:0009072; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v8.25 QARS Natalie Chandler reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 32042906, 41393345; Phenotypes: diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, MONDO:0014335, Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 MVK Louise Carr reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: 16722536, 27012807, 40038796; Phenotypes: Mevalonic aciduria, OMIM:610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 BHLHE22 Louise Carr reviewed gene: BHLHE22: Rating: GREEN; Mode of pathogenicity: ; Publications: 42586785; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v8.25 PMS2 Esther Kinning reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28562508, 24737826, 38912246, 38981890, 32354708, 17993636, 22692065, 30166433, 33247381; Phenotypes: Mismatch repair cancer syndrome 4, OMIM:619101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.25 FBXW11 Anna de Burca reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: ; Publications: 31402090, 40188065, 40178747; Phenotypes: Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.25 COL27A1 Anna de Burca reviewed gene: COL27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 41139937; Phenotypes: Steel syndrome, OMIM:615155, Steel syndrome, MONDO:0014061; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.24 ATP5O Achchuthan Shanmugasundram commented on gene: ATP5O
Fetal anomalies v8.24 ATP5O Ida Ertmanska Classified gene: ATP5O as Green List (high evidence)
Fetal anomalies v8.24 ATP5O Ida Ertmanska Gene: atp5o has been classified as Green List (High Evidence).
Fetal anomalies v8.23 SIK3 Ida Ertmanska Source NHS GMS was added to SIK3.
Added phenotypes spondyloepimetaphyseal dysplasia, Krakow type, MONDO:0032571; Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162 for gene: SIK3
Fetal anomalies v8.23 SHANK3 Ida Ertmanska Source NHS GMS was added to SHANK3.
Added phenotypes Phelan-McDermid syndrome, OMIM:606232 for gene: SHANK3
Fetal anomalies v8.23 TBX6 Ida Ertmanska Source NHS GMS was added to TBX6.
Added phenotypes Spondylocostal dysostosis 5, OMIM:122600; spondylocostal dysostosis 5, MONDO:0007389 for gene: TBX6
Publications for gene: TBX6 were updated from 23335591; 25564734; 33058178 to 31015262; 23335591; 25564734; 33058178
Fetal anomalies v8.23 EIF3B Ida Ertmanska Added phenotypes syndromic disease, MONDO:0002254; Cardiovascular, craniofacial, and neurodevelopmental disorder for gene: EIF3B
Publications for gene: EIF3B were updated from to 41033306
Fetal anomalies v8.23 GSPT2 Ida Ertmanska Source NHS GMS was added to GSPT2.
Added phenotypes neurodevelopmental disorder, MONDO:0700092 for gene: GSPT2
Publications for gene: GSPT2 were updated from to 41420488; 28414775
Fetal anomalies v8.23 STAT3 Ida Ertmanska Added phenotypes Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections, OMIM:147060; Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952; hyper-IgE recurrent infection syndrome 1, autosomal dominant, MONDO:0007818; autoimmune disease, multisystem, infantile-onset, MONDO:0000213 for gene: STAT3
Fetal anomalies v8.23 UBTF Ida Ertmanska Source NHS GMS was added to UBTF.
Mode of inheritance for gene UBTF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes neurodevelopmental disorder, MONDO:0700092 for gene: UBTF
Publications for gene: UBTF were updated from to 41534641
Fetal anomalies v8.23 GRHL2 Ida Ertmanska Source NHS GMS was added to GRHL2.
Mode of inheritance for gene GRHL2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Ectodermal dysplasia/short stature syndrome, OMIM:616029; cleft palate, MONDO:0016064 for gene: GRHL2
Publications for gene: GRHL2 were updated from 25152456; 27612988 to 25152456; 27612988; 41172132
Fetal anomalies v8.23 SLC22A5 Ida Ertmanska Added phenotypes Carnitine deficiency, systemic primary, OMIM:212140 for gene: SLC22A5
Publications for gene: SLC22A5 were updated from 33082562; 10545605; 11261427 to 36535739; 33082562; 10545605; 11261427
Fetal anomalies v8.23 MSH6 Ida Ertmanska Source NHS GMS was added to MSH6.
Added phenotypes Mismatch repair cancer syndrome 3, OMIM:619097 for gene: MSH6
Publications for gene: MSH6 were updated from to 28562508; 24737826; 38981890; 32354708; 17993636; 22692065; 30166433; 38912246; 33247381
Fetal anomalies v8.23 RHOA Ida Ertmanska Added phenotypes Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, OMIM:618727 for gene: RHOA
Publications for gene: RHOA were updated from to 41153384
Fetal anomalies v8.23 MSH2 Ida Ertmanska Source NHS GMS was added to MSH2.
Added phenotypes Mismatch repair cancer syndrome 2, OMIM:619096 for gene: MSH2
Publications for gene: MSH2 were updated from to 28562508; 24737826; 38981890; 32354708; 17993636; 22692065; 30166433; 38912246; 33247381
Fetal anomalies v8.23 EMC1 Ida Ertmanska Mode of inheritance for gene EMC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes cerebellar atrophy, visual impairment, and psychomotor retardation , MONDO:0014811; Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 for gene: EMC1
Publications for gene: EMC1 were updated from 29271071; 26942288 to 36799557; 38161285; 29271071; 32092440; 26942288
Fetal anomalies v8.23 MLH1 Ida Ertmanska Source NHS GMS was added to MLH1.
Added phenotypes Mismatch repair cancer syndrome 1, OMIM:276300 for gene: MLH1
Publications for gene: MLH1 were updated from to 28562508; 24737826; 38981890; 32354708; 17993636; 22692065; 30166433; 38912246; 33247381
Fetal anomalies v8.23 WNT4 Ida Ertmanska Source NHS GMS was added to WNT4.
Mode of inheritance for gene WNT4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes SERKAL syndrome, OMIM:611812 for gene: WNT4
Publications for gene: WNT4 were updated from to 40992710; 18179883
Fetal anomalies v8.23 NID1 Ida Ertmanska Mode of inheritance for gene NID1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes Dandy-Walker malformation with occiptal cephalocele, OMIM:609222; Dandy-Walker syndrome, MONDO:0009072 for gene: NID1
Publications for gene: NID1 were updated from 30773799; 12480912; 25558065; 23674478 to 30773799; 25558065; 36702440; 12480912; 23674478
Fetal anomalies v8.23 QARS Ida Ertmanska Source NHS GMS was added to QARS.
Added phenotypes diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, MONDO:0014335; Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760 for gene: QARS
Publications for gene: QARS were updated from 24656866; 25432320; 25041233; 32042906; 25471517; 28620870 to 32042906; 28620870; 25432320; 25471517; 25041233; 24656866; 41393345
Fetal anomalies v8.23 MVK Ida Ertmanska Added phenotypes Mevalonic aciduria, OMIM:610377 for gene: MVK
Publications for gene: MVK were updated from 27012807; 16722536 to 16722536; 27012807; 40038796
Fetal anomalies v8.23 BHLHE22 Ida Ertmanska Added phenotypes neurodevelopmental disorder, MONDO:0700092 for gene: BHLHE22
Publications for gene: BHLHE22 were updated from 39502664 to 39502664; 42586785
Fetal anomalies v8.23 PMS2 Ida Ertmanska Source NHS GMS was added to PMS2.
Added phenotypes Mismatch repair cancer syndrome 4, OMIM:619101 for gene: PMS2
Publications for gene: PMS2 were updated from to 28562508; 24737826; 38981890; 32354708; 17993636; 22692065; 30166433; 38912246; 33247381
Fetal anomalies v8.23 FBXW11 Ida Ertmanska Added phenotypes Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914 for gene: FBXW11
Publications for gene: FBXW11 were updated from 31402090; 40188065 to 31402090; 40188065; 40178747
Fetal anomalies v8.23 COL27A1 Ida Ertmanska Added phenotypes Steel syndrome, OMIM:615155; Steel syndrome, MONDO:0014061 for gene: COL27A1
Publications for gene: COL27A1 were updated from 24986830; 28276056; 28322503 to 28276056; 28322503; 24986830; 41139937
Fetal anomalies v8.23 DLG3 Ida Ertmanska Source NHS GMS was added to DLG3.
Source Expert Review Red was added to DLG3.
Added phenotypes intellectual disability, X-linked 90, MONDO:0010452; Intellectual developmental disorder, X-linked 90, OMIM:300850 for gene: DLG3
Publications for gene: DLG3 were updated from to 38249294; 40983642
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v8.23 PNPT1 Ida Ertmanska Source NHS GMS was added to PNPT1.
Added phenotypes combined oxidative phosphorylation defect type 13, MONDO:0013977; Combined oxidative phosphorylation deficiency 13, OMIM:614932 for gene: PNPT1
Publications for gene: PNPT1 were updated from to 37861028
Fetal anomalies v8.23 HEATR3 Ida Ertmanska Source Expert Review Amber was added to HEATR3.
Added phenotypes Diamond-Blackfan anemia 21, OMIM:620072 for gene: HEATR3
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v8.23 SCN8A Ida Ertmanska Source Expert Review Amber was added to SCN8A.
Source NHS GMS was added to SCN8A.
Mode of inheritance for gene SCN8A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes developmental and epileptic encephalopathy, 13, MONDO:0013801; Developmental and epileptic encephalopathy 13, OMIM:614558 for gene: SCN8A
Publications for gene: SCN8A were updated from to 31026061; 27659738
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v8.23 UNC45A Ida Ertmanska Source Expert Review Amber was added to UNC45A.
Added phenotypes Osteootohepatoenteric syndrome, OMIM:619377 for gene: UNC45A
Publications for gene: UNC45A were updated from 29429573 to 41081434; 29429573
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v8.23 SMAD6 Ida Ertmanska Source Expert Review Amber was added to SMAD6.
Mode of inheritance for gene SMAD6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Brain and cardiac abnormalities; syndromic disease, MONDO:0002254 for gene: SMAD6
Publications for gene: SMAD6 were updated from 22275001; 31138930; 32499606; 27606499 to 27606499; 22275001; 41139937; 32499606; 31138930
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v8.23 UNC80 Ida Ertmanska Source Expert Review Amber was added to UNC80.
Source NHS GMS was added to UNC80.
Added phenotypes hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MONDO:0014777; Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801 for gene: UNC80
Publications for gene: UNC80 were updated from to 40801661; 41458659; 40048676
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v8.23 WDR83 Ida Ertmanska gene: WDR83 was added
gene: WDR83 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: WDR83 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR83 were set to 4138179
Phenotypes for gene: WDR83 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v8.23 ESRP2 Ida Ertmanska gene: ESRP2 was added
gene: ESRP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ESRP2 were set to 39179789
Phenotypes for gene: ESRP2 were set to orofacial cleft, MONDO:0000358
Fetal anomalies v8.23 UTRN Ida Ertmanska gene: UTRN was added
gene: UTRN was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: UTRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UTRN were set to 20583184; 41244983
Phenotypes for gene: UTRN were set to arthrogryposis, MONDO:0008779
Fetal anomalies v8.23 CAPN6 Ida Ertmanska gene: CAPN6 was added
gene: CAPN6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CAPN6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CAPN6 were set to 41683570
Phenotypes for gene: CAPN6 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v8.23 TMEM53 Ida Ertmanska gene: TMEM53 was added
gene: TMEM53 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TMEM53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM53 were set to 33824347; 39300972; 40767825; 40680154; 39084544; 39901041
Phenotypes for gene: TMEM53 were set to craniotubular dysplasia, Ikegawa type, MONDO:0859226; Craniotubular dysplasia, Ikegawa type, OMIM:619727
Fetal anomalies v8.23 LOXL2 Ida Ertmanska gene: LOXL2 was added
gene: LOXL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: LOXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LOXL2 were set to 37345575
Phenotypes for gene: LOXL2 were set to cephalocele, MONDO:0017078; Encephalocele
Fetal anomalies v8.23 KIAA1217 Ida Ertmanska gene: KIAA1217 was added
gene: KIAA1217 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: KIAA1217 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KIAA1217 were set to 32369272
Phenotypes for gene: KIAA1217 were set to vertebral disorder, MONDO:0045002
Fetal anomalies v8.23 GH1 Ida Ertmanska gene: GH1 was added
gene: GH1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GH1 were set to 24497717; 41073961
Phenotypes for gene: GH1 were set to Growth hormone deficiency, isolated, type II, OMIM:173100; Growth hormone deficiency, isolated, type IB, OMIM:612781; Growth hormone deficiency, isolated, type IA, OMIM:262400
Fetal anomalies v8.23 EXOSC10 Ida Ertmanska gene: EXOSC10 was added
gene: EXOSC10 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: EXOSC10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EXOSC10 were set to 41132091
Phenotypes for gene: EXOSC10 were set to Microcephaly, MONDO:0001149
Fetal anomalies v8.23 CIC Ida Ertmanska gene: CIC was added
gene: CIC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CIC were set to 28288114; 41836057
Phenotypes for gene: CIC were set to Intellectual developmental disorder, autosomal dominant 45, OMIM:617600; intellectual developmental disorder, autosomal dominant 45, MONDO:0030910
Fetal anomalies v8.23 SEC63 Ida Ertmanska gene: SEC63 was added
gene: SEC63 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEC63 were set to polycystic liver disease 2, MONDO:0014860; Polycystic liver disease 2, OMIM:617004
Fetal anomalies v8.23 TUBA4A Ida Ertmanska gene: TUBA4A was added
gene: TUBA4A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA4A were set to 40666348; 38413182
Phenotypes for gene: TUBA4A were set to Congenital myopathy 26, MONDO:0979229; Congenital myopathy 26, OMIM:621225
Fetal anomalies v8.23 PPFIA2 Ida Ertmanska gene: PPFIA2 was added
gene: PPFIA2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PPFIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPFIA2 were set to 41044885
Phenotypes for gene: PPFIA2 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v8.23 NCKAP1 Ida Ertmanska gene: NCKAP1 was added
gene: NCKAP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NCKAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NCKAP1 were set to 41462819
Phenotypes for gene: NCKAP1 were set to congenital heart disease, MONDO:0005453; neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v8.23 MFN2 Ida Ertmanska gene: MFN2 was added
gene: MFN2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to 37804319
Phenotypes for gene: MFN2 were set to lissencephaly spectrum disorders, MONDO:0018838; antenatal encephalopathy
Fetal anomalies v8.23 GJA4 Ida Ertmanska gene: GJA4 was added
gene: GJA4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: GJA4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GJA4 were set to 41416265
Phenotypes for gene: GJA4 were set to Thickened nuchal skin fold, HP:0000474
Fetal anomalies v8.23 CUL1 Ida Ertmanska gene: CUL1 was added
gene: CUL1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CUL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUL1 were set to 41189326
Phenotypes for gene: CUL1 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v8.23 TRIM28 Ida Ertmanska gene: TRIM28 was added
gene: TRIM28 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM28 were set to 29912901; 30885698; 30694527
Phenotypes for gene: TRIM28 were set to Wilms tumor 7, OMIM:621332; Wilms tumor 7, MONDO:0979876
Fetal anomalies v8.23 RPL35 Ida Ertmanska gene: RPL35 was added
gene: RPL35 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL35 were set to 28280134
Phenotypes for gene: RPL35 were set to Diamond-Blackfan anemia 19. OMIM:618312
Fetal anomalies v8.23 PGBD5 Ida Ertmanska gene: PGBD5 was added
gene: PGBD5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGBD5 were set to 41533792
Phenotypes for gene: PGBD5 were set to Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, OMIM:621482; neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MONDO:0980968
Fetal anomalies v8.23 LGI1 Ida Ertmanska gene: LGI1 was added
gene: LGI1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: LGI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LGI1 were set to 40455867; 11810107; 41000458
Phenotypes for gene: LGI1 were set to Developmental and epileptic encephalopathy 121, OMIM:621475; developmental and epileptic encephalopathy 121, MONDO:0980966
Fetal anomalies v8.23 COPZ1 Ida Ertmanska gene: COPZ1 was added
gene: COPZ1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: COPZ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPZ1 were set to 39642330
Phenotypes for gene: COPZ1 were set to Neutropenia, severe congenital, 12, autosomal recessive, OMIM:621439; neutropenia, severe congenital, 12, autosomal recessive, MONDO:0980936
Fetal anomalies v8.23 ZFPM1 Ida Ertmanska gene: ZFPM1 was added
gene: ZFPM1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ZFPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFPM1 were set to 41813389
Phenotypes for gene: ZFPM1 were set to congenital heart disease, MONDO:0005453
Fetal anomalies v8.23 TSR2 Ida Ertmanska gene: TSR2 was added
gene: TSR2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TSR2 were set to 24942156
Phenotypes for gene: TSR2 were set to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, OMIM:300946; Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MONDO:0010493
Fetal anomalies v8.23 RPS15A Ida Ertmanska gene: RPS15A was added
gene: RPS15A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS15A were set to 27909223
Phenotypes for gene: RPS15A were set to Diamond-Blackfan anemia 20, OMIM:618313
Fetal anomalies v8.23 TTBK1 Ida Ertmanska gene: TTBK1 was added
gene: TTBK1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TTBK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTBK1 were set to 41545183
Phenotypes for gene: TTBK1 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v8.23 RPS27 Ida Ertmanska gene: RPS27 was added
gene: RPS27 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: RPS27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS27 were set to 25424902
Phenotypes for gene: RPS27 were set to Diamond-Blackfan anemia 17, OMIM:617409
Fetal anomalies v8.23 KLHL20 Ida Ertmanska gene: KLHL20 was added
gene: KLHL20 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLHL20 were set to 36214804; 38513146
Phenotypes for gene: KLHL20 were set to neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MONDO:0980709; Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, OMIM:621390
Fetal anomalies v8.23 ARHGAP35 Ida Ertmanska gene: ARHGAP35 was added
gene: ARHGAP35 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGAP35 were set to 41714291; 36178483
Phenotypes for gene: ARHGAP35 were set to Acrania-exencephaly-anencephaly sequence, a rare uniformaly lethal and progressive neural defect
Fetal anomalies v8.23 FASTKD5 Ida Ertmanska gene: FASTKD5 was added
gene: FASTKD5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: FASTKD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASTKD5 were set to 40499538
Phenotypes for gene: FASTKD5 were set to Mitochondrial complex IV deficiency, nuclear type 24, OMIM:621431
Fetal anomalies v8.23 RPL17 Ida Ertmanska gene: RPL17 was added
gene: RPL17 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RPL17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL17 were set to 39088281
Phenotypes for gene: RPL17 were set to Diamond-Blackfan anemia 22, OMIM:621262
Fetal anomalies v8.23 TBCB Ida Ertmanska gene: TBCB was added
gene: TBCB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TBCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCB were set to 40856104
Phenotypes for gene: TBCB were set to neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia, MONDO:0980706; Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia, OMIM:621382
Fetal anomalies v8.23 SEC23A Ida Ertmanska gene: SEC23A was added
gene: SEC23A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC23A were set to 16980978; 38275611; 16980979; 21039434; 34580982; 26494538; 37828500; 27148587
Phenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, OMIM:607812; craniolenticulosutural dysplasia, MONDO:0011911
Fetal anomalies v8.23 NRIP1 Ida Ertmanska gene: NRIP1 was added
gene: NRIP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRIP1 were set to 41868040; 34525250; 28381549
Phenotypes for gene: NRIP1 were set to Congenital anomalies of kidney and urinary tract 3, OMIM:618270; congenital anomalies of kidney and urinary tract 3, MONDO:0032646
Fetal anomalies v8.23 CDK4 Ida Ertmanska gene: CDK4 was added
gene: CDK4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CDK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK4 were set to 40210435
Phenotypes for gene: CDK4 were set to microcephaly 31, primary, autosomal recessive, MONDO:0980991; Short stature, HP:0004322; Microcephaly 31, primary, autosomal recessive, OMIM:621507
Fetal anomalies v8.23 TAF4 Ida Ertmanska gene: TAF4 was added
gene: TAF4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAF4 were set to 41454640; 28191890; 35904126; 33875846
Phenotypes for gene: TAF4 were set to intellectual developmental disorder, autosomal dominant 73, MONDO:0957536; Intellectual developmental disorder, autosomal dominant 73, OMIM:620450
Fetal anomalies v8.23 RAPGEF2 Ida Ertmanska gene: RAPGEF2 was added
gene: RAPGEF2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RAPGEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAPGEF2 were set to 41556274
Phenotypes for gene: RAPGEF2 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v8.23 MOCS3 Ida Ertmanska gene: MOCS3 was added
gene: MOCS3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MOCS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCS3 were set to 33897766; 39695700; 36296488; 28544736
Phenotypes for gene: MOCS3 were set to Molybdenum cofactor deficiency, type B2, OMIM:621373
Fetal anomalies v8.23 GTF2H4 Ida Ertmanska gene: GTF2H4 was added
gene: GTF2H4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GTF2H4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2H4 were set to 40924475
Phenotypes for gene: GTF2H4 were set to xeroderma pigmentosum, complementation group J, MONDO:0980987; Xeroderma pigmentosum, complementation group J, OMIM:621435
Fetal anomalies v8.23 CCP110 Ida Ertmanska Source NHS GMS was added to CCP110.
Added phenotypes ciliopathy, MONDO:0005308 for gene: CCP110
Publications for gene: CCP110 were updated from to 26965371; 38857829
Fetal anomalies v8.23 RRP12 Ida Ertmanska gene: RRP12 was added
gene: RRP12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RRP12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RRP12 were set to 42144846; 41059649
Phenotypes for gene: RRP12 were set to basal ganglia calcification, idiopathic, 11, autosomal recessive, MONDO:0980939; Basal ganglia calcification, idiopathic, 11, autosomal recessive, OMIM:621452
Fetal anomalies v8.23 EIF3A Ida Ertmanska gene: EIF3A was added
gene: EIF3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EIF3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF3A were set to 41033306; 34179316
Phenotypes for gene: EIF3A were set to syndromic disease, MONDO:0002254; Cardiovascular, craniofacial, and neurodevelopmental disorder
Fetal anomalies v8.23 TTC1 Ida Ertmanska gene: TTC1 was added
gene: TTC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC1 were set to 26539891; 40879651
Phenotypes for gene: TTC1 were set to pontocerebellar hypoplasia, MONDO:0020135
Fetal anomalies v8.23 TSPYL1 Ida Ertmanska gene: TSPYL1 was added
gene: TSPYL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPYL1 were set to 32885560; 15273283; 33075815; 36082874
Phenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome, OMIM:608800
Fetal anomalies v8.23 LOXL3 Ida Ertmanska gene: LOXL3 was added
gene: LOXL3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LOXL3 were set to 34787502; 30362103; 36610533; 26307084; 41052910; 38957076; 26957899; 25663169
Phenotypes for gene: LOXL3 were set to Stickler syndrome, MONDO:0019354
Fetal anomalies v8.23 IGFALS Ida Ertmanska gene: IGFALS was added
gene: IGFALS was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IGFALS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGFALS were set to 25352235
Phenotypes for gene: IGFALS were set to short stature due to primary acid-labile subunit deficiency, MONDO:0014420; Acid-labile subunit, deficiency of, OMIM:615961
Fetal anomalies v8.23 HMGCS1 Ida Ertmanska gene: HMGCS1 was added
gene: HMGCS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HMGCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCS1 were set to 39531736
Phenotypes for gene: HMGCS1 were set to congenital myopathy 28 with rigid spine, MONDO:0980756; Congenital myopathy 28 with rigid spine, OMIM:621433; Congenital myopathy 28 with rigid spine
Fetal anomalies v8.23 WNT11 Ida Ertmanska gene: WNT11 was added
gene: WNT11 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: WNT11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WNT11 were set to 34875064; 38275609; 40200693
Phenotypes for gene: WNT11 were set to osteopetrosis, MONDO:0017198
Fetal anomalies v8.23 UBR5 Ida Ertmanska gene: UBR5 was added
gene: UBR5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBR5 were set to 39721588
Phenotypes for gene: UBR5 were set to Neurodevelopmental disorder with speech delay and behavioral abnormalities, OMIM:621372
Fetal anomalies v8.23 RPS29 Ida Ertmanska gene: RPS29 was added
gene: RPS29 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS29 were set to 39691264; 24829207
Phenotypes for gene: RPS29 were set to Diamond-Blackfan anemia 13, MONDO:0014394; Diamond-Blackfan anemia 13, OMIM:615909
Fetal anomalies v8.23 NOS3 Ida Ertmanska gene: NOS3 was added
gene: NOS3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NOS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOS3 were set to 37383439; 36941667
Phenotypes for gene: NOS3 were set to Moyamoya disease 8, OMIM:621469; Moyamoya disease 8, MONDO:0980949
Fetal anomalies v8.23 NFE2L2 Ida Ertmanska gene: NFE2L2 was added
gene: NFE2L2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFE2L2 were set to 29018201
Phenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia, OMIM:617744; immunodeficiency, developmental delay, and hypohomocysteinemia, MONDO:0060591
Fetal anomalies v8.23 MGRN1 Ida Ertmanska gene: MGRN1 was added
gene: MGRN1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MGRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MGRN1 were set to 41781207
Phenotypes for gene: MGRN1 were set to visceral heterotaxy, MONDO:0018677
Fetal anomalies v8.23 ATXN7L3 Ida Ertmanska gene: ATXN7L3 was added
gene: ATXN7L3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATXN7L3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN7L3 were set to 38753057
Phenotypes for gene: ATXN7L3 were set to Harel-Tora neurodevelopmental syndrome, OMIM:621377; Harel-Tora neurodevelopmental syndrome, MONDO:0980703
Fetal anomalies v8.23 SMARCA1 Ida Ertmanska gene: SMARCA1 was added
gene: SMARCA1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SMARCA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SMARCA1 were set to 41213919
Phenotypes for gene: SMARCA1 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v8.23 ATP5O Ida Ertmanska Source Expert Review Amber was added to ATP5O.
Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 for gene: ATP5O
Publications for gene: ATP5O were updated from 35621276 to 39763161; 34954817; 35621276; 40913360
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v8.23 RPL18 Ida Ertmanska gene: RPL18 was added
gene: RPL18 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL18 were set to 32075953; 28280134
Phenotypes for gene: RPL18 were set to Diamond-Blackfan anemia 18, OMIM:618310
Fetal anomalies v8.23 OPA1 Ida Ertmanska gene: OPA1 was added
gene: OPA1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: OPA1 were set to 26561570; 39233737
Phenotypes for gene: OPA1 were set to Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type), OMIM:616896; Mitochondrial DNA depletion syndrome 14A (encephalomyopathic type), OMIM:621481
Fetal anomalies v8.23 NAA16 Ida Ertmanska gene: NAA16 was added
gene: NAA16 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NAA16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NAA16 were set to 28991257; 41148812; 23665959
Phenotypes for gene: NAA16 were set to congenital heart disease, MONDO:0005453
Fetal anomalies v8.23 MIPEP Ida Ertmanska gene: MIPEP was added
gene: MIPEP was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIPEP were set to 27799064; 34620555; 36727025
Phenotypes for gene: MIPEP were set to lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, MONDO:0014976; Combined oxidative phosphorylation deficiency-31, OMIM:617228
Fetal anomalies v8.23 FGD5 Ida Ertmanska gene: FGD5 was added
gene: FGD5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FGD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGD5 were set to 41574350; 41199744; 30232381; 32037394
Phenotypes for gene: FGD5 were set to Congenital heart disease, tetralogy of Fallout (TOF), peripheral pulmonary artery stenosis (PPS)
Fetal anomalies v8.23 FAM50A Ida Ertmanska gene: FAM50A was added
gene: FAM50A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FAM50A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FAM50A were set to 32703943
Phenotypes for gene: FAM50A were set to Armfield type of X-linked syndromic intellectual developmental disorder, OMIM:300261
Fetal anomalies v8.23 ARNT2 Ida Ertmanska gene: ARNT2 was added
gene: ARNT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARNT2 were set to 24022475; 11247670; 41363294
Phenotypes for gene: ARNT2 were set to Webb-Dattani syndrome, OMIM:615926; Webb-Dattani syndrome, MONDO:0014404
Fetal anomalies v8.23 MAP2K4 Ida Ertmanska gene: MAP2K4 was added
gene: MAP2K4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAP2K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K4 were set to 41480045
Phenotypes for gene: MAP2K4 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v8.23 FHL2 Ida Ertmanska gene: FHL2 was added
gene: FHL2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FHL2 were set to 41039806; 36854411; 25358972
Phenotypes for gene: FHL2 were set to Congential dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021
Fetal anomalies v8.23 COX18 Ida Ertmanska gene: COX18 was added
gene: COX18 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX18 were set to 37468577
Phenotypes for gene: COX18 were set to Mitochondrial complex IV deficiency, nuclear type 25, OMIM:621487; neonatal hypertrophic cardiomyopathy; mitochondrial complex IV deficiency, nuclear-type, MONDO:0033885
Fetal anomalies v8.23 NCAPG2 Ida Ertmanska gene: NCAPG2 was added
gene: NCAPG2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPG2 were set to 30609410
Phenotypes for gene: NCAPG2 were set to Khan-Khan-Katsanis syndrome, MONDO:0032764; Khan-Khan-Katsanis syndrome, OMIM:618460
Fetal anomalies v8.23 FTH1 Ida Ertmanska gene: FTH1 was added
gene: FTH1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FTH1 were set to 37660254; 41551370
Phenotypes for gene: FTH1 were set to Neurodegeneration with brain iron accumulation-9, OMIM:620669; neurodegeneration with brain iron accumulation 9, MONDO:0958012
Fetal anomalies v8.23 ASTN1 Ida Ertmanska gene: ASTN1 was added
gene: ASTN1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASTN1 were set to 41544630
Phenotypes for gene: ASTN1 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v8.23 ZFHX3 Ida Ertmanska gene: ZFHX3 was added
gene: ZFHX3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZFHX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFHX3 were set to 38412861; 41198152
Phenotypes for gene: ZFHX3 were set to neural tube defect, MONDO:0018075
Fetal anomalies v8.23 SGSM3 Ida Ertmanska gene: SGSM3 was added
gene: SGSM3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SGSM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSM3 were set to Intellectual developmental disorder, autosomal recessive 84, OMIM:620401; intellectual developmental disorder, autosomal recessive 84, MONDO:0980746
Fetal anomalies v8.23 RPL31 Ida Ertmanska gene: RPL31 was added
gene: RPL31 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RPL31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL31 were set to 25042156
Phenotypes for gene: RPL31 were set to Diamond-Blackfan anemia, MONDO:0015253
Fetal anomalies v8.23 PEG10 Ida Ertmanska gene: PEG10 was added
gene: PEG10 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PEG10 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PEG10 were set to 41429883
Phenotypes for gene: PEG10 were set to Silver-Russell syndrome, MONDO:0008394
Fetal anomalies v8.23 MYMX Ida Ertmanska gene: MYMX was added
gene: MYMX was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MYMX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYMX were set to 39668186
Phenotypes for gene: MYMX were set to Carey-Fineman-Ziter syndrome 2; OMIM:619941
Fetal anomalies v8.23 TPM1 Ida Ertmanska Source NHS GMS was added to TPM1.
Added phenotypes Cardiomyopathy, hypertrophic, 3, OMIM:115196; Cardiomyopathy, dilated, 1Y, OMIM:611878; Left ventricular noncompaction 9, OMIM:611878 for gene: TPM1
Publications for gene: TPM1 were updated from 33553264 to 40348118; 33553264
Fetal anomalies v8.23 SEL1L Ida Ertmanska Source NHS GMS was added to SEL1L.
Added phenotypes Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, OMIM:621068; neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, MONDO:0976131 for gene: SEL1L
Fetal anomalies v8.23 RPL27 Ida Ertmanska gene: RPL27 was added
gene: RPL27 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RPL27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL27 were set to 38988374; 25424902
Phenotypes for gene: RPL27 were set to Diamond-Blackfan anemia 16, OMIM:617408
Fetal anomalies v8.23 CLASP1 Ida Ertmanska gene: CLASP1 was added
gene: CLASP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CLASP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CLASP1 were set to 40343077; 39040917
Phenotypes for gene: CLASP1 were set to Lissencephaly, HP:0001339; focal epilepsy, MONDO:0005384
Fetal anomalies v8.23 TM2D3 Ida Ertmanska gene: TM2D3 was added
gene: TM2D3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TM2D3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TM2D3 were set to 40449487
Phenotypes for gene: TM2D3 were set to Neurocardiorenal malformation syndrome, OMIM:621379; neurocardiorenal malformation syndrome, MONDO:0980704
Fetal anomalies v8.23 SEC31A Ida Ertmanska Source NHS GMS was added to SEC31A.
Added phenotypes Halperin-Birk syndrome, OMIM:618651; neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MONDO:0032849 for gene: SEC31A
Publications for gene: SEC31A were updated from 30464055; 39725565; 40508110 to 30464055; 40508110; 39725565
Fetal anomalies v8.23 NUBP2 Ida Ertmanska gene: NUBP2 was added
gene: NUBP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUBP2 were set to 39867373
Phenotypes for gene: NUBP2 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v8.23 CDK9 Ida Ertmanska gene: CDK9 was added
gene: CDK9 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CDK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK9 were set to 26633546; 40954203; 33640901; 30237576
Phenotypes for gene: CDK9 were set to CHARGE-like syndrome with retinal dystrophy
Fetal anomalies v8.23 NRCAM Ida Ertmanska gene: NRCAM was added
gene: NRCAM was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRCAM were set to 35108495
Phenotypes for gene: NRCAM were set to Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833
Fetal anomalies v8.23 UNC13A Ida Ertmanska gene: UNC13A was added
gene: UNC13A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: UNC13A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC13A were set to 41125872; 36447687; 27648472
Phenotypes for gene: UNC13A were set to Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455; neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MONDO:0980940
Fetal anomalies v8.23 QSER1 Ida Ertmanska gene: QSER1 was added
gene: QSER1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: QSER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: QSER1 were set to 41139957
Phenotypes for gene: QSER1 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v8.23 NOTCH3 Ida Ertmanska Source NHS GMS was added to NOTCH3.
Mode of inheritance for gene NOTCH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, OMIM:621295; cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, MONDO:0979867 for gene: NOTCH3
Publications for gene: NOTCH3 were updated from to 41196431; 38824264; 25870235; 37688971
Fetal anomalies v8.23 TOPORS Ida Ertmanska gene: TOPORS was added
gene: TOPORS was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TOPORS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOPORS were set to 40358237; 37227088; 34132027
Phenotypes for gene: TOPORS were set to ciliopathy, MONDO:0005308
Fetal anomalies v8.23 TNNC2 Ida Ertmanska gene: TNNC2 was added
gene: TNNC2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TNNC2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TNNC2 were set to 40560134; 33755597
Phenotypes for gene: TNNC2 were set to congenital myopathy 15, MONDO:0859335; Congenital myopathy 15, OMIM:620161
Fetal anomalies v8.23 FOXD2 Ida Ertmanska gene: FOXD2 was added
gene: FOXD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FOXD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXD2 were set to 38154558
Phenotypes for gene: FOXD2 were set to congenital anomaly of kidney and urinary tract, MONDO:0019719
Fetal anomalies v8.23 DMRT2 Ida Ertmanska gene: DMRT2 was added
gene: DMRT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMRT2 were set to 29681102; 41014130; 16387292
Phenotypes for gene: DMRT2 were set to spondylocostal dysostosis 7, autosomal recessive, MONDO:0981023; Spondylocostal dysostosis 7, autosomal recessive, OMIM:621523
Fetal anomalies v8.23 ATRIP Ida Ertmanska gene: ATRIP was added
gene: ATRIP was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATRIP were set to 40029331; 35568357; 23144622
Phenotypes for gene: ATRIP were set to Seckel syndrome, MONDO:0019342
Fetal anomalies v8.23 ZNF292 Ida Ertmanska gene: ZNF292 was added
gene: ZNF292 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZNF292 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF292 were set to 40777882; 31723249; 41153384
Phenotypes for gene: ZNF292 were set to Intellectual developmental disorder, autosomal dominant 64, OMIM:619188; intellectual developmental disorder, autosomal dominant 64, MONDO:0030934
Fetal anomalies v8.23 TMEM161B Ida Ertmanska gene: TMEM161B was added
gene: TMEM161B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TMEM161B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM161B were set to 36669109; 36669111
Phenotypes for gene: TMEM161B were set to polymicrogyria, MONDO:0000087; Microcephaly, MONDO:0001149
Fetal anomalies v8.23 SSR4 Ida Ertmanska gene: SSR4 was added
gene: SSR4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SSR4 were set to 41441028; 38805916
Phenotypes for gene: SSR4 were set to SSR4-congenital disorder of glycosylation, MONDO:0010490; Congenital disorder of glycosylation, type Iy, OMIM:300934
Fetal anomalies v8.23 SPATA5L1 Ida Ertmanska gene: SPATA5L1 was added
gene: SPATA5L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 37902276; 41375745; 34626583
Phenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616; neurodevelopmental disorder with hearing loss and spasticity, MONDO:0859206
Fetal anomalies v8.23 RPS6KC1 Ida Ertmanska gene: RPS6KC1 was added
gene: RPS6KC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RPS6KC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPS6KC1 were set to 41130203
Phenotypes for gene: RPS6KC1 were set to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, OMIM:621460
Fetal anomalies v8.23 PAK1 Ida Ertmanska gene: PAK1 was added
gene: PAK1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to 41124873; 36905087; 37820543; 31504246
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay, OMIM:618158
Fetal anomalies v8.23 DBR1 Ida Ertmanska gene: DBR1 was added
gene: DBR1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 40683339; 41366235; 29474921; 37656279
Phenotypes for gene: DBR1 were set to xerosis and growth failure with immune and pulmonary dysfunction syndrome, MONDO:0957786; Xerosis and growth failure with immune and pulmonary dysfunction syndrome, OMIM:620510
Fetal anomalies v8.23 RPS28 Ida Ertmanska gene: RPS28 was added
gene: RPS28 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS28 were set to 40135709; 24942156
Phenotypes for gene: RPS28 were set to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, OMIM:606164; Diamond-Blackfan anemia 15 with mandibulofacial dysostosis, MONDO:0011639
Fetal anomalies v8.23 XRCC2 Ida Ertmanska gene: XRCC2 was added
gene: XRCC2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC2 were set to 27208205; 42071175; 22232082; 30237576
Phenotypes for gene: XRCC2 were set to Fanconi anemia, complementation group U, OMIM:617247
Fetal anomalies v8.23 SLC1A4 Ida Ertmanska gene: SLC1A4 was added
gene: SLC1A4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 25930971; 26138499; 37502193; 29989513; 27193218; 37194416; 31763347; 26041762; 34174466; 35605507
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657; spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, MONDO:0014725
Fetal anomalies v8.23 GRK2 Ida Ertmanska gene: GRK2 was added
gene: GRK2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRK2 were set to 38647386; 33200460
Phenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770
Fetal anomalies v8.23 NAE1 Ida Ertmanska gene: NAE1 was added
gene: NAE1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NAE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAE1 were set to 36608681
Phenotypes for gene: NAE1 were set to Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, OMIM:620210; neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MONDO:0859361
Fetal anomalies v8.23 ARSK Ida Ertmanska gene: ARSK was added
gene: ARSK was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ARSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSK were set to 35959767; 34916232; 38292179
Phenotypes for gene: ARSK were set to Mucopolysaccharidosis, type X, OMIM:619698; mucopolysaccharidosis, type 10, MONDO:0030524
Fetal anomalies v8.23 ZNF148 Ida Ertmanska gene: ZNF148 was added
gene: ZNF148 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZNF148 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF148 were set to 37580113
Phenotypes for gene: ZNF148 were set to Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, OMIM:617260
Fetal anomalies v8.23 MED16 Ida Ertmanska gene: MED16 was added
gene: MED16 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MED16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED16 were set to 40081376
Phenotypes for gene: MED16 were set to Guillouet-Gordon syndrome, MONDO:0979227; Guillouet-Gordon syndrome, OMIM:621220
Fetal anomalies v8.23 CRNKL1 Ida Ertmanska gene: CRNKL1 was added
gene: CRNKL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CRNKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRNKL1 were set to 40857589
Phenotypes for gene: CRNKL1 were set to Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436; microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MONDO:0980935
Fetal anomalies v8.23 TRA2B Ida Ertmanska gene: TRA2B was added
gene: TRA2B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRA2B were set to Ramond-Elliott neurodevelopmental syndrome, MONDO:0980751; Ramond-Elliott neurodevelopmental syndrome, OMIM:621421
Fetal anomalies v8.23 ZFHX4 Ida Ertmanska gene: ZFHX4 was added
gene: ZFHX4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFHX4 were set to 40367947; 39702590; 40657976
Phenotypes for gene: ZFHX4 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v8.23 PCDHGC4 Ida Ertmanska gene: PCDHGC4 was added
gene: PCDHGC4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDHGC4 were set to 34244665
Phenotypes for gene: PCDHGC4 were set to Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880
Fetal anomalies v8.23 MYCBP2 Ida Ertmanska gene: MYCBP2 was added
gene: MYCBP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYCBP2 were set to 41543631; 36200388; 41200582
Phenotypes for gene: MYCBP2 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v8.23 KDM2A Ida Ertmanska gene: KDM2A was added
gene: KDM2A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KDM2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2A were set to 41468891
Phenotypes for gene: KDM2A were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v8.23 ABAT Ida Ertmanska gene: ABAT was added
gene: ABAT was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABAT were set to 41573381
Phenotypes for gene: ABAT were set to GABA-transaminase deficiency, OMIM:613163
Fetal anomalies v8.22 NUSAP1 Luke Stuart Classified gene: NUSAP1 as Amber List (moderate evidence)
Fetal anomalies v8.22 NUSAP1 Luke Stuart Added comment: Comment on list classification: 4 patients with de novo truncating NMD-escaping variants and consistent phenotype reported. Sufficient evidence to promote to Green at the next GMS panel update.
Fetal anomalies v8.22 NUSAP1 Luke Stuart Gene: nusap1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v8.21 NUSAP1 Luke Stuart Classified gene: NUSAP1 as Amber List (moderate evidence)
Fetal anomalies v8.21 NUSAP1 Luke Stuart Gene: nusap1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v8.20 NUSAP1 Luke Stuart edited their review of gene: NUSAP1: Changed rating: GREEN
Fetal anomalies v8.20 NUSAP1 Luke Stuart gene: NUSAP1 was added
gene: NUSAP1 was added to Fetal anomalies. Sources: Literature
Q4_26_promote_green tags were added to gene: NUSAP1.
Mode of inheritance for gene: NUSAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUSAP1 were set to 37005340; 42706591
Phenotypes for gene: NUSAP1 were set to microcephaly(MONDO:0001149); neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities(MONDO:0030063)
Mode of pathogenicity for gene: NUSAP1 was set to Other
Review for gene: NUSAP1 was set to AMBER
Added comment: Nonsense-mediated decay (NMD)-escaping truncating variants in NUSAP1 are associated with a syndromic neurodevelopmental phenotype characterised by congenital microcephaly, profound developmental impairment, neonatal-onset refractory epilepsy, and structural brain malformations.

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

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

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

NUSAP1 is not currently associated with any disease/ phenotype in OMIM, Gene2Phenotype, ClinGen (10/2026).
Sources: Literature
Fetal anomalies v8.19 SLIT3 Luke Stuart Classified gene: SLIT3 as Amber List (moderate evidence)
Fetal anomalies v8.19 SLIT3 Luke Stuart Gene: slit3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v8.18 SLIT3 Luke Stuart gene: SLIT3 was added
gene: SLIT3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIT3 were set to 29100090; 33933663; 12702769; 14550534; 32644051; 25691540; 37830982; 31613678
Phenotypes for gene: SLIT3 were set to congenital anomalies of kidney and urinary tract 1 (MONDO:0019719); congenital heart disease (MONDO:0005453); congenital diaphragmatic hernia (MONDO:0005711)
Penetrance for gene: SLIT3 were set to unknown
Review for gene: SLIT3 was set to AMBER
Added comment: Evidence in humans autosomal recessive SLIT3-related congenital anomalies, including CAKUT and isolated congenital diaphragmatic hernia, are limited to a single published individual/ family. Animal knockout models are reported to show a variety of phenotypes with varying penetrance, including CAKUT-like features, congenital heart defects, and congenital diaphragmatic herina (CDH).

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

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

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

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

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

SLIT3 is not associated with any disease or phenotype in OMIM, ClinGen. G2P cites a 'limited' association with SLIT3-related congenital anomalies.
Sources: Literature
Fetal anomalies v8.17 BHLHE22 Ida Ertmanska Tag watchlist was removed from gene: BHLHE22.
Fetal anomalies v8.17 TSEN34 Ida Ertmanska Tag Q4_25_expert_review tag was added to gene: TSEN34.
Fetal anomalies v8.17 TSEN34 Ida Ertmanska changed review comment from: Comment on list classification: There is one patient reported in literature with a biallelic variant in TSEN34 and Pontocerebellar hypoplasia type 2. While TSEN34 shares a biochemical function with other genes known to cause Pontocerebellar hypoplasia type 2, the clinical evidence for this gene-disease association is lacking in literature. Hence, TSEN34 should be demoted to Amber for Ataxia and cerebellar anomalies - narrow panel, until more evidence emerges.; to: Comment on list classification: There is one patient reported in literature with a biallelic variant in TSEN34 and Pontocerebellar hypoplasia type 2. The phenotype is fetally relevant as PCH can be detected on antenatal scans (PMID: 38165124). While TSEN34 shares a biochemical function with other genes known to cause Pontocerebellar hypoplasia type 2, the clinical evidence for this gene-disease association is lacking in literature. Hence, TSEN34 should be demoted to Amber for Ataxia and cerebellar anomalies - narrow panel, until more evidence emerges.
Fetal anomalies v8.17 PAX6 Achchuthan Shanmugasundram Publications for gene: PAX6 were set to
Fetal anomalies v8.16 PAX6 Luke Stuart edited their review of gene: PAX6: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.16 PAX6 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Luke Stuart, there is sufficient evidence available for the association of PAX6 biallelic loss-of-function variants with a severe, prenatal/neonatal-onset neurodevelopmental disorder. Reported cases were stillborn or died in the neonatal period, with only rare survival despite profound developmental abnormalities.

Monoallelic PAX6 variants are associated with developmental eye disorders, including aniridia, microphthalmia, coloboma and foveal hypoplasia. It is unclear whether monoallelic variants are relevant for the fetal anomalies panel. Hence, expert opinion is sought on whether the MOI should be updated to BOTH or Biallelic ONLY.
Fetal anomalies v8.16 PAX6 Achchuthan Shanmugasundram Mode of inheritance for gene: PAX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v8.15 PAX6 Achchuthan Shanmugasundram Tag Q3_26_expert_review tag was added to gene: PAX6.
Tag Q3_26_MOI tag was added to gene: PAX6.
Fetal anomalies v8.15 PAX6 Luke Stuart changed review comment from: Biallelic PAX6 variants are associated with severe congenital malformation including structural brain anomalies and aniridia. The paucity of patients reports reflects embryonic/ perinatal lethality associated with biallelic PAX6 loss of function.

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

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

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

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

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

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

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

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

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

3 unrelated patients are reported and the biallelic Sey mouse model recapitulates the human phenotype, thus a green rating for biallelic inheritance is recommended. It is unclear whether monoallelic PAX6-related disease lies within the intended scope of the fetal anomalies panel, thus expert review is requested for monoallelic PAX6-related disease.
Fetal anomalies v8.15 PAX3 Eleanor Williams Phenotypes for gene: PAX3 were changed from WAARDENBURG SYNDROME, TYPE 1; CRANIOFACIAL-DEAFNESS-HAND SYNDROME to Waardenburg syndrome, type 1, OMIM:193500; Waardenburg syndrome type 1, MONDO:0008670; Waardenburg syndrome, type 3, OMIM:148820; Waardenburg syndrome type 3, MONDO:0007862; Klein-Waardenburg syndromeCRANIOFACIAL-DEAFNESS-HAND SYNDROME
Fetal anomalies v8.14 NSMCE2 Eleanor Williams Added comment: Comment on publications: Peduto et al., 2026 paper is now in PubMed: 42661287 so added to list.
Fetal anomalies v8.14 NSMCE2 Eleanor Williams Publications for gene: NSMCE2 were set to 25105364; https://doi.org/10.1002/ajmg.a.70286
Fetal anomalies v8.13 TBX6 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Luke Stuart, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.
Fetal anomalies v8.13 TBX6 Achchuthan Shanmugasundram Mode of inheritance for gene: TBX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v8.12 TBX6 Achchuthan Shanmugasundram Phenotypes for gene: TBX6 were changed from Spondylocostal dysostosis 5 122600 to Spondylocostal dysostosis 5, OMIM:122600; spondylocostal dysostosis 5, MONDO:0007389
Fetal anomalies v8.11 TBX6 Achchuthan Shanmugasundram Publications for gene: TBX6 were set to
Fetal anomalies v8.10 TBX6 Achchuthan Shanmugasundram Tag Q3_26_MOI tag was added to gene: TBX6.
Fetal anomalies v8.10 CLCN3 Achchuthan Shanmugasundram Phenotypes for gene: CLCN3 were changed from Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 to ?Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517; Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512
Fetal anomalies v8.9 CLCN3 Achchuthan Shanmugasundram Publications for gene: CLCN3 were set to 34186028; 36536096
Fetal anomalies v8.8 CLCN3 Achchuthan Shanmugasundram Publications for gene: CLCN3 were set to
Fetal anomalies v8.7 CLCN3 Ida Ertmanska changed review comment from: Comment on mode of inheritance: There is currently only 1 recessive pedigree reported in literature where 2 sibs with a neurodevelopmental disorder with seizures and brain abnormalities harboured a homozygous frameshift CLCN3 variant. More than 20 individuals have been reported with an NDD and harbouring heterozygous missense variants in CLCN3. Hence, the mode of inheritance should be changed to MONOALLELIC only, until more evidence emerges for the BIALLELIC association. An expert_review tag was added to ensure GMS is in agreement on this demotion.; to: Comment on mode of inheritance: There is currently only 1 recessive pedigree reported in literature where 2 sibs with a neurodevelopmental disorder with seizures and brain abnormalities harboured a homozygous frameshift CLCN3 variant. More than 20 individuals have been reported with an NDD and harbouring heterozygous missense variants in CLCN3. Hence, the mode of inheritance should be changed to MONOALLELIC only, until more evidence emerges for the BIALLELIC association.
Fetal anomalies v8.7 CLCN3 Ida Ertmanska Tag Q3_26_expert_review was removed from gene: CLCN3.
Fetal anomalies v8.7 PAX3 Ida Ertmanska changed review comment from: Comment on list classification: There are now 2 cases reported with biallelic PAX3 variants and severe, early-onset "Waardenburg syndrome, type 3", otherwise known as Klein-Waardenburg syndrome, with multiple abnormalities detected on antenatal scans. Based on available evidence, the MOI should remain 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown', with "moi-watchlist" tag added in anticipation of further fetal reports.; to: Comment on list classification: There are now 2 cases reported with biallelic PAX3 variants and severe, early-onset "Waardenburg syndrome, type 3", otherwise known as Klein-Waardenburg syndrome, with multiple abnormalities detected on antenatal scans. Based on available evidence, the MOI should remain 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown', with a "watchlist_moi" tag added in anticipation of further fetal reports.
Fetal anomalies v8.7 PAX3 Ida Ertmanska Tag watchlist_moi tag was added to gene: PAX3.
Fetal anomalies v8.7 PAX3 Ida Ertmanska commented on gene: PAX3: Comment on list classification: There are now 2 cases reported with biallelic PAX3 variants and severe, early-onset "Waardenburg syndrome, type 3", otherwise known as Klein-Waardenburg syndrome, with multiple abnormalities detected on antenatal scans. Based on available evidence, the MOI should remain 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown', with "moi-watchlist" tag added in anticipation of further fetal reports.
Fetal anomalies v8.7 SMAD5 Ludmila Volozonoka reviewed gene: SMAD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 42481704, 39631055, 40619738; Phenotypes: congenitad heart defect, patent ductus arteriosus, ventricular septal defect, hypoplastic left heart; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.7 IFIH1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: IFIH1.
Fetal anomalies v8.7 PAX6 Luke Stuart reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951315, 19876904, 20054790, 8213068, 16979618; Phenotypes: Corpus callosum, agenesis of (MONDO:0009022); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v8.7 CLCN3 Ida Ertmanska changed review comment from: Comment on mode of inheritance: There is currently only 1 recessive pedigree reported in literature where 2 sibs with a neurodevelopmental disorder with seizures and brain abnormalities harboured a homozygous frameshift CLCN3 variant. More than 20 individuals have been reported with an NDD and harbouring heterozygous missense variants in CLCN3. Hence, the mode of inheritance should be changed to MONOALLELIC only, until more evidence emerges for the BIALLELIC association.; to: Comment on mode of inheritance: There is currently only 1 recessive pedigree reported in literature where 2 sibs with a neurodevelopmental disorder with seizures and brain abnormalities harboured a homozygous frameshift CLCN3 variant. More than 20 individuals have been reported with an NDD and harbouring heterozygous missense variants in CLCN3. Hence, the mode of inheritance should be changed to MONOALLELIC only, until more evidence emerges for the BIALLELIC association. An expert_review tag was added to ensure GMS is in agreement on this demotion.
Fetal anomalies v8.7 CLCN3 Ida Ertmanska Tag Q3_26_expert_review tag was added to gene: CLCN3.
Tag Q3_26_MOI tag was added to gene: CLCN3.
Fetal anomalies v8.7 CLCN3 Ida Ertmanska reviewed gene: CLCN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34186028; Phenotypes: ?Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517, Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.7 TBX6 Luke Stuart reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25564734, 33058178, 23335591, 12620991; Phenotypes: Spondylocostal dysostosis 5 (OMIM #122600), spondylocostal dysostosis 5 (MONDO:0007389); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v8.7 NSMCE2 Ida Ertmanska Classified gene: NSMCE2 as Amber List (moderate evidence)
Fetal anomalies v8.7 NSMCE2 Ida Ertmanska Added comment: Comment on list classification: There are now 3 probands reported in literature (2 with a shared ancestral haplotype) with biallelic frameshift NSMCE2 variants and features consistent with Seckel syndrome 10 (microcephalic primordial dwarfism). There is also a supportive zebrafish model, where nsmce2 knockout resulted in dwarfism - rescued by injection of WT NSMCE2 but not mutant mRNA with patient variants. In addition, a patient reported in Decipher has biallelic NSMCE2 frameshift variants and features consistent with Seckel syndrome, including IUGR and oligohydramnios noted on prenatal scans. Taken together, there is enough evidence in literature to promote this gene to Green at the next update.
Fetal anomalies v8.7 NSMCE2 Ida Ertmanska Gene: nsmce2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v8.6 NSMCE2 Ida Ertmanska gene: NSMCE2 was added
gene: NSMCE2 was added to Fetal anomalies. Sources: Literature
Q3_26_promote_green tags were added to gene: NSMCE2.
Mode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSMCE2 were set to 25105364; https://doi.org/10.1002/ajmg.a.70286
Phenotypes for gene: NSMCE2 were set to Seckel syndrome 10, OMIM:617253; Seckel syndrome, MONDO:0014991
Review for gene: NSMCE2 was set to GREEN
Added comment: https://doi.org/10.1002/ajmg.a.70286 Peduto et al., 2026 - online before print
Study described an 11-year-old French male with compound heterozygous NSMCE2 variants (c.346del, p.Ser116Leufs*18 & c.697_700dupAGGG, p.Ala234Glufs*4) and a phenotype consistent with microcephalic primordial dwarfism / Seckel syndrome 10, including severe pre- and postnatal growth restriction, marked microcephaly, feeding difficulties, characteristic dysmorphic features, dental anomalies, severe insulin resistance with hypertriglyceridemia and hepatic steatosis, primary gonadal failure, renal lithiasis, and skeletal anomalies, including platyspondyly and right-hip osteochondritis. Neuroimaging revealed bifrontal gyral simplification and a cavernous carotid aneurysm. In addition, the proband exhibited a bilateral developmental maculopathy, an ocular feature not previously associated with NSMCE2 deficiency. Pregnancy was complicated by oligohydramnios, early intrauterine growth retardation (IUGR), and cerebral gyration delay. Parents are not consanguineous. Seq method: Exome seq, variants confirmed in trans.
His measurements at birth were: weight 1125 g (−5.61 SD), length 37 cm (−6.98 SD), and occipitofrontal circumference (OFC) 25 cm (−7.06 SD).

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

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

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

The association between NSMCE2 and AR Seckel syndrome 10 has been classified as Moderate in ClinGen (Feb 2025, Syndromic Disorders GCEP). The gene is also associated with AR Seckel syndrome 10, MIM:617253 in OMIM (accessed 2rd Sept 2026).
Sources: Literature
Fetal anomalies v8.5 PAX3 Ida Ertmanska reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26443304, 35607853; Phenotypes: Waardenburg syndrome, type 1, OMIM:193500, Waardenburg syndrome type 1, MONDO:0008670, Waardenburg syndrome, type 3, OMIM:148820, Waardenburg syndrome type 3, MONDO:0007862, Klein-Waardenburg syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v8.5 MMP9 Ida Ertmanska Tag Q3_26_promote_green was removed from gene: MMP9.
Fetal anomalies v8.5 MMP9 Ida Ertmanska Publications for gene: MMP9 were set to
Fetal anomalies v8.4 MMP9 Ida Ertmanska Deleted their review
Fetal anomalies v8.4 MMP9 Ida Ertmanska Deleted their comment
Fetal anomalies v8.4 ZNHIT3 Ida Ertmanska Tag founder-effect tag was added to gene: ZNHIT3.
Fetal anomalies v8.4 PCLO Achchuthan Shanmugasundram Phenotypes for gene: PCLO were changed from Pontocerebellar hypoplasia, type 3, OMIM:608027 to Pontocerebellar hypoplasia, type 3, OMIM:608027; PEHO syndrome, MONDO:0009841; progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
Fetal anomalies v8.3 SEC31A Ida Ertmanska Classified gene: SEC31A as Amber List (moderate evidence)
Fetal anomalies v8.3 SEC31A Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated probands reported with 3 unique homozygous variants in SEC31A and a highly syndromic presentation, resulting in early lethality. Two individuals had IUGR. In addition, a neuron-specific sec31a knock-down in Drosophila recapitulated early lethality seen in the patients. Based on available evidence, this gene should be Green on Fetal anomalies.
Fetal anomalies v8.3 SEC31A Ida Ertmanska Gene: sec31a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v8.2 SEC31A Ida Ertmanska gene: SEC31A was added
gene: SEC31A was added to Fetal anomalies. Sources: Literature
Q3_26_promote_green tags were added to gene: SEC31A.
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to 30464055; 39725565; 40508110
Phenotypes for gene: SEC31A were set to ?Halperin-Birk syndrome, OMIM:618651; neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MONDO:0032849
Review for gene: SEC31A was set to GREEN
Added comment: PMID: 39725565 Almontashiri et al., 2025
Female proband; parents are first cousins. IUGR and multiple congenital anomalies were seen on the antenatal scan. She was born very small, with dysmorphic facial features. She had hypotonia with hyperreflexia, but no seizures. Head ultrasound revealed absent CC and an interhemispheric cyst. She had short bowed limbs, contractures, Wormian skull bones, shortening of the long bones, and microcephaly. She died at 15 days old due to bradycardia. Solo WES revealed a homozygous SEC31A splice variant c.1435-1G>A. Splice AI score is
Splice-Altering / strong (1) for this variant. RT-PCR showed exon skipping and overall reduction in SEC31A expression.

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

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

Functional evidence: Drosophila sec31a -/- null model showed early embryonic lethality. Knockdown of sec31a with RNAi in the eye yielded flies with severe eye phenotypes (disorganised ommatids). Brain-specific knockdown: larvae appeared to develop normally until death in the third instar larvae stage.
Sources: Literature
Fetal anomalies v8.1 MMP9 Ida Ertmanska reviewed gene: MMP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615667, 28342220, 34407464, 36035187; Phenotypes: Metaphyseal anadysplasia 2, OMIM:613073, metaphyseal anadysplasia 2, MONDO:0013113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.1 MMP9 Ida Ertmanska Deleted their review
Fetal anomalies v8.1 MMP9 Ida Ertmanska Deleted their comment
Fetal anomalies v8.1 MMP9 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: MMP9.
Fetal anomalies v8.1 MMP9 Ida Ertmanska reviewed gene: MMP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 34407464, 36035187; Phenotypes: Metaphyseal anadysplasia 2, OMIM:613073, metaphyseal anadysplasia 2, MONDO:0013113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.1 Arina Puzriakova Panel version 8.0 has been signed off on 2026-08-12
Fetal anomalies v8.0 Arina Puzriakova promoted panel to version 8.0
Fetal anomalies v7.33 FBN2 Ida Ertmanska reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 28383543, 33571691, 38791509; Phenotypes: Contractural arachnodactyly, congenital, OMIM:121050, congenital contractural arachnodactyly, MONDO:0007363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v7.33 DHCR7 Arina Puzriakova Publications for gene: DHCR7 were set to 31840946
Fetal anomalies v7.32 CDK20 Achchuthan Shanmugasundram Classified gene: CDK20 as Amber List (moderate evidence)
Fetal anomalies v7.32 CDK20 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated families reported with biallelic CDK20 variants and with a multisystem phenotype, which included five foetuses from three families (resulting in termination of pregnancies) and two live children. This gene can therefore promoted to green rating in the next GMS update.
Fetal anomalies v7.32 CDK20 Achchuthan Shanmugasundram Gene: cdk20 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v7.31 CDK20 Achchuthan Shanmugasundram Tag Q3_26_promote_green tag was added to gene: CDK20.
Fetal anomalies v7.31 CDK20 Achchuthan Shanmugasundram gene: CDK20 was added
gene: CDK20 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CDK20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK20 were set to 42409022
Phenotypes for gene: CDK20 were set to ciliopathy, MONDO:0005308; Ventriculomegaly, HP:0002119; hydrocephalus, MONDO:0001150
Review for gene: CDK20 was set to GREEN
Added comment: PMID:42409022 (2026) reported a cohort of seven individuals from five unrelated families including five deceased foetuses and two living children presenting with a consistent pattern of multisystem anomalies.

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

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

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

This gene has not yet been associated with any relevant phenotypes either in OMIM (last accessed 23 July 2026) or in Gene2Phenotype.
Sources: Literature
Fetal anomalies v7.30 TMEM251 Eleanor Williams Publications for gene: TMEM251 were set to
Fetal anomalies v7.29 TMEM251 Eleanor Williams Phenotypes for gene: TMEM251 were changed from Dysostosis multiplex, Ain-Naz type, OMIM:619345 to Dysostosis multiplex, Ain-Naz type, OMIM:619345; dysostosis multiplex, Ain-Naz type, MONDO:0859156
Fetal anomalies v7.28 ZBTB20 Arina Puzriakova Phenotypes for gene: ZBTB20 were changed from PRIMROSE SYNDROME to Primrose syndrome, OMIM:259050
Fetal anomalies v7.27 BCL11A Ida Ertmanska Phenotypes for gene: BCL11A were changed from INTELLECTUAL DISABILITY to Dias-Logan syndrome, OMIM:617101; Dias-Logan syndrome, MONDO:0014914; BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin
Fetal anomalies v7.26 NPR2 Achchuthan Shanmugasundram Phenotypes for gene: NPR2 were changed from ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE to Short stature with nonspecific skeletal abnormalities, OMIM:616255
Fetal anomalies v7.25 NPR2 Achchuthan Shanmugasundram Publications for gene: NPR2 were set to
Fetal anomalies v7.24 VCP Arina Puzriakova Classified gene: VCP as Amber List (moderate evidence)
Fetal anomalies v7.24 VCP Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 7 unrelated individuals with Adams-Oliver syndrome due to heterozygous hypermorphic variants in the NTD domain of VCP.
Fetal anomalies v7.24 VCP Arina Puzriakova Gene: vcp has been classified as Amber List (Moderate Evidence).
Fetal anomalies v7.23 VCP Arina Puzriakova gene: VCP was added
gene: VCP was added to Fetal anomalies. Sources: Literature
Q2_26_promote_green tags were added to gene: VCP.
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCP were set to 41979051
Phenotypes for gene: VCP were set to Adams-Oliver syndrome, MONDO:0007034
Mode of pathogenicity for gene: VCP was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: VCP was set to GREEN
Added comment: Lehman et al 2026 (PMID: 41979051) report 7 unrelated families with Adams-Oliver syndrome characterised by aplasia cutis congenita and terminal limb reduction defects. Members of three families displayed features of multisystem proteinopathy, previously associated with this gene, including a parent (myopathy, lytic bone lesions and/or neuropathy in F1 and 2) or grandparent (frontotemporal dementia in F4). Pulmonary hypertension was found in 6/7 families.

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

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

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

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

Consider MOI change to BOTH monoallelic and biallelic, autosomal or pseudoautosomal, as heterozygous individuals also present with skeletal features, limb disorders.
Fetal anomalies v7.22 INPP4A Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated.
Fetal anomalies v7.22 INPP4A Ida Ertmanska Phenotypes for gene: INPP4A were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, OMIM:621354; neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MONDO:0980699
Fetal anomalies v7.21 GNAS Arina Puzriakova Deleted their comment
Fetal anomalies v7.21 GNAS Arina Puzriakova Deleted their comment
Fetal anomalies v7.21 GNAS Arina Puzriakova Deleted their comment
Fetal anomalies v7.21 GNAS Arina Puzriakova commented on gene: GNAS: The mode of inheritance of this gene has been updated to Unknown following NHS Genomic Medicine Service approval. This mode of inheritance enables inclusive tiering across all segregation patterns for this gene.
Fetal anomalies v7.20 GNAS Arina Puzriakova commented on gene: GNAS: The mode of inheritance of this gene has been updated to Unknown following NHS Genomic Medicine Service approval. This mode of inheritance enables inclusive tiering across all segregation patterns for this gene.
Fetal anomalies v7.19 GNAS Arina Puzriakova commented on gene: GNAS: The mode of inheritance of this gene has been updated to Unknown following NHS Genomic Medicine Service approval. This mode of inheritance enables inclusive tiering across all segregation patterns for this gene.
Fetal anomalies v7.18 GNAS Arina Puzriakova reviewed gene: GNAS: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Fetal anomalies v7.17 GNAS Arina Puzriakova Mode of inheritance for gene GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Fetal anomalies v7.16 Arina Puzriakova List of related panels changed from R21; Fetal anomalies with a likely genetic cause; Fetal anomalies with a likely genetic cause - non urgent; R412; GT520; TP260; TP416 to Fetal anomalies with a likely genetic cause; R21; Fetal anomalies with a likely genetic cause - non urgent; R412; GT520; TP260; TP416
Fetal anomalies v7.15 Ida Ertmanska List of related panels changed from R21; Fetal anomalies with a likely genetic cause; Fetal anomalies with a likely genetic cause - non urgent; R412 to R21; Fetal anomalies with a likely genetic cause; Fetal anomalies with a likely genetic cause - non urgent; R412; GT520; TP260; TP416
Fetal anomalies v7.14 ABCC6 Arina Puzriakova Phenotypes for gene: ABCC6 were changed from ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 to Arterial calcification, generalized, of infancy, 2, OMIM:614473
Fetal anomalies v7.13 FAM92A Eleanor Williams Entity copied from Limb disorders v8.9
Fetal anomalies v7.13 FAM92A Eleanor Williams gene: FAM92A was added
gene: FAM92A was added to Fetal anomalies. Sources: Literature,Expert Review Amber
new-gene-name, Q2_26_promote_green tags were added to gene: FAM92A.
Mode of inheritance for gene: FAM92A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM92A were set to 30395363; 38853702
Phenotypes for gene: FAM92A were set to ?Polydactyly, postaxial, type A9, OMIM:618219; polydactyly, postaxial, type A9, MONDO:0032603
Fetal anomalies v7.12 CNTN1 Arina Puzriakova Phenotypes for gene: CNTN1 were changed from Myopathy, congenital, Compton-North, OMIM:612540 to Congenital myopathy 12, OMIM:612540
Fetal anomalies v7.11 NPR2 Ida Ertmanska Tag Q2_26_MOI tag was added to gene: NPR2.
Fetal anomalies v7.11 NPR2 Ida Ertmanska edited their review of gene: NPR2: Changed rating: GREEN; Changed publications to: 40424589; Changed phenotypes to: Short stature with nonspecific skeletal abnormalities, OMIM:616255; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v7.11 NPR2 Ida Ertmanska changed review comment from: PMID: 40424589 Renes et al., 2025
Report of 18 different NPR2 variants in 27 Dutch children with short stature (all heterozygous). Truncating variants (5/18) had a more severe effect than non-truncating variants (-3.3 vs -2.5 SDS respectively). Also, variants in the kinase homology domain (6/18 variants) were more severe than variants in other domains (-3.2 SDS vs -2.5 SDS). Majority of patients had mild features suggestive of skeletal dysplasia. 21/27 individuals had dysmorphic features of the hands, 13/27 with brachydactyly, clinodactyly and syndactyly also reported. All the children were 4-18 years old at the start of GH treatment (and height measurement) so the TD criteria are fulfilled for at least 5 individuals (> 2 years old and height <-3SD).; to: PMID: 40424589 Renes et al., 2025
Report of 18 different NPR2 variants in 27 Dutch children with short stature (all heterozygous). Truncating variants (5/18) had a more severe effect than non-truncating variants (-3.3 vs -2.5 SDS respectively). Also, variants in the kinase homology domain (6/18 variants) were more severe than variants in other domains (-3.2 SDS vs -2.5 SDS). Majority of patients had mild features suggestive of skeletal dysplasia: mild dysproportion, cone-shaped epiphysis, and shortened metacarpals. 21/27 individuals had dysmorphic features of the hands, 13/27 with brachydactyly, clinodactyly and syndactyly also reported. All the children were 4-18 years old at the start of GH treatment (and height measurement) so the TD criteria are fulfilled for at least 5 individuals (> 2 years old and height <-3SD).

Consider MOI change to BOTH monoallelic and biallelic, autosomal or pseudoautosomal, as heterozygous individuals also present with skeletal features, limb disorders.
Fetal anomalies v7.11 NPR2 Ida Ertmanska commented on gene: NPR2
Fetal anomalies v7.11 GRHL2 Ida Ertmanska edited their review of gene: GRHL2: Changed rating: AMBER
Fetal anomalies v7.11 GRHL2 Ida Ertmanska Tag Q2_26_promote_green was removed from gene: GRHL2.
Fetal anomalies v7.11 DST Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #621510 & 621511) and the OMIM record was last accessed on 01 June 2026.
Fetal anomalies v7.11 DST Achchuthan Shanmugasundram Phenotypes for gene: DST were changed from Arthrogryposis multiplex congenita, MONDO:0015168; arthrogryposis, MONDO:0859248; cardiomyopathy, MONDO:0004994; congenital myopathy, MONDO:0019952 to Congenital myopathy 29 with contractures, OMIM:621510; congenital myopathy 29 with contractures, MONDO:0981030; Lethal congenital contracture syndrome 12, OMIM:621511; lethal congenital contracture syndrome 12, MONDO:0981031
Fetal anomalies v7.10 GRHL2 Ida Ertmanska Phenotypes for gene: GRHL2 were changed from ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME to Ectodermal dysplasia/short stature syndrome, OMIM:616029
Fetal anomalies v7.9 GRHL2 Ida Ertmanska Publications for gene: GRHL2 were set to
Fetal anomalies v7.8 GRHL2 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: GRHL2.
Fetal anomalies v7.8 GRHL2 Ida Ertmanska reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152456, 27612988; Phenotypes: Ectodermal dysplasia/short stature syndrome, OMIM:616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v7.8 RET Ida Ertmanska commented on gene: RET: Comment on mode of inheritance: I have found very limited evidence of RET-related recessive disease - 2 cases of severe Hirschsprung disease, and no cases with biallelic RET variants and renal agenesis. Hence, the MOI should be changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted at the next update.
Fetal anomalies v7.8 RET Ida Ertmanska Publications for gene: RET were set to
Fetal anomalies v7.7 RET Ida Ertmanska Tag Q2_26_MOI tag was added to gene: RET.
Fetal anomalies v7.7 RET Ida Ertmanska reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: 9090527, 34267336; Phenotypes: {Hirschsprung disease, susceptibility to, 1}, OMIM:142623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v7.7 LMNB2 Arina Puzriakova Tag watchlist_moi tag was added to gene: LMNB2.
Fetal anomalies v7.7 RNF2 Ida Ertmanska Classified gene: RNF2 as Amber List (moderate evidence)
Fetal anomalies v7.7 RNF2 Ida Ertmanska Added comment: Comment on list classification: There are now 6 unrelated individuals reported in literature with heterozygous variants (mostly de novo missense) and Luo-Schoch-Yamamoto syndrome. Prenatal complications were present in all 6 patients. Hence, this gene will be recommended for promotion to Green once PMID:40831499 is published.
Fetal anomalies v7.7 RNF2 Ida Ertmanska Gene: rnf2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v7.6 RNF2 Ida Ertmanska gene: RNF2 was added
gene: RNF2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RNF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF2 were set to 33864376; 40831499
Phenotypes for gene: RNF2 were set to Luo-Schoch-Yamamoto syndrome, OMIM:619460; Luo-Schoch-Yamamoto syndrome, MONDO:0859171
Review for gene: RNF2 was set to GREEN
Added comment: PMID: 40831499 Ryan et al., 2025 - PRE-PRINT
identified 3 monoallelic RNF2 variants in 4 unrelated individuals: c.245G>T (p.S82I) (in 2 unrelated cases), c.796A>T (p.R266W), and c.472C>T (p.R158*). 3 cases were confirmed to be de novo. Patients were age 21 months - 7 yrs at examination. All 4 patients had prenatal complications (IUGR, oligohydramnios, polyhydramnios), gastrointestinal and feeding difficulties, and dysmorphic features. Cardiovascular anomalies detected in 3/4 individuals, 2 had hearing loss.
Neurological symptoms: hypotonia (3/4), seizures (1/3), spasticity (2/4), developmental delay and intellectual disability (3/4).

PMID:33864376 (Luo et al 2021) report 2 cases of children with de novo missense variants (p.R70H and p.S82R) in RNF2 and a phenotype of intrauterine growth retardation, severe intellectual disabilities, behavioral problems, seizures, feeding difficulties and dysmorphic features. Seizures started in infancy. Both variants are absent from gnomad. Functional studies in Drosophila showed that the disease-linked variants (p.R70H and p.S82R) behave as LoF alleles.
Sources: Literature
Fetal anomalies v7.5 GNPNAT1 Ida Ertmanska Phenotypes for gene: GNPNAT1 were changed from Talipes equinovarus; Rhizomelic dysplasia, Ain-Naz type to Talipes equinovarus; ?Rhizomelic dysplasia, Ain-Naz type, OMIM:619598; rhizomelic dysplasia, Ain-Naz type, MONDO:0859203
Fetal anomalies v7.4 GNPNAT1 Ida Ertmanska Publications for gene: GNPNAT1 were set to 39945447
Fetal anomalies v7.3 GNPNAT1 Ida Ertmanska commented on gene: GNPNAT1: Comment on list classification: There are now 4 unrelated individuals reported with biallelic GNPNAT1 missense variants and skeletal dysplasia, which is detectable on fetal ultrasound. Hence, this gene should be promoted to Green at the next update.
Fetal anomalies v7.3 GNPNAT1 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: GNPNAT1.
Fetal anomalies v7.3 GNPNAT1 Ida Ertmanska reviewed gene: GNPNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35427807, 36097642; Phenotypes: ?Rhizomelic dysplasia, Ain-Naz type, OMIM:619598, rhizomelic dysplasia, Ain-Naz type, MONDO:0859203; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v7.3 CLCF1 Ida Ertmanska Classified gene: CLCF1 as Amber List (moderate evidence)
Fetal anomalies v7.3 CLCF1 Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated individuals reported in literature with biallelic CLCF1 variants and cold-induced sweating syndrome 2, with campodactyly and elbow contractures being a consistent feature in all 3 cases. Hence, this gene can be promoted to Green at the next update.
Fetal anomalies v7.3 CLCF1 Ida Ertmanska Gene: clcf1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v7.2 CLCF1 Ida Ertmanska gene: CLCF1 was added
gene: CLCF1 was added to Fetal anomalies. Sources: Literature
Q2_26_promote_green tags were added to gene: CLCF1.
Mode of inheritance for gene: CLCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCF1 were set to 16782820; 20400119; 32512309
Phenotypes for gene: CLCF1 were set to Cold-induced sweating syndrome 2, OMIM:610313; cold-induced sweating syndrome 2, MONDO:0012467; Elbow contracture, HP:0034391; Bilateral camptodactyly, HP:0005617
Review for gene: CLCF1 was set to GREEN
Added comment: PMID: 32512309 Buers et al., 2020
11-year-old boy of European ancestry, homozygous for CLCF1 c.321C>G, p.Tyr107*, with Crisponi Syndrome/cold-induced sweating syndrome 2.

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

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

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

This gene is associated with AR Cold-induced sweating syndrome 2, OMIM:610313 in OMIM (accessed 11th May 2026). CLCF1 is not yet associated with a condition in G2P or ClinGen.
Sources: Literature
Fetal anomalies v7.1 Achchuthan Shanmugasundram Panel version 7.0 has been signed off on 2026-05-06
Fetal anomalies v7.0 Achchuthan Shanmugasundram promoted panel to version 7.0
Fetal anomalies v6.198 FAM177A1 Ida Ertmanska Phenotypes for gene: FAM177A1 were changed from Neurodevelopmental disorder with white matter abnormalities and gait disturbance to Neurodevelopmental disorder with white matter abnormalities and gait disturbance, OMIM:621152
Fetal anomalies v6.197 C16orf62 Ida Ertmanska Tag gene-checked tag was added to gene: C16orf62.
Fetal anomalies v6.197 TMEM17 Ida Ertmanska Tag gene-checked tag was added to gene: TMEM17.
Fetal anomalies v6.197 GINS3 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype added 1st May 2026.
Fetal anomalies v6.197 GINS3 Ida Ertmanska Phenotypes for gene: GINS3 were changed from Meier-Gorlin syndrome to Meier-Gorlin syndrome; Meier-Gorlin syndrome 9, OMIM:621512
Fetal anomalies v6.196 GINS3 Ida Ertmanska Tag gene-checked was removed from gene: GINS3.
Fetal anomalies v6.196 ITCH Achchuthan Shanmugasundram changed review comment from: As reviewed by Ludmila Volozonoka, the single patient from PMID:36338154 is the only reported case presenting prenatally with intrauterine growth retardation. Hence, this gene can only be rated red on Fetal anomalies panel. This gene is rated with red rating on the fetal panel from PanelApp Australia.

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

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

This gene has already been rated green or proposed for green rating on panels relevant for this multi-system phenotype such as R15 Primary immunodeficiency or monogenic inflammatory bowel disease, R413 Autoinflammatory disorders and R27 Paediatric disorders (via DDG2P panel).
Fetal anomalies v6.196 ITCH Achchuthan Shanmugasundram Phenotypes for gene: ITCH were changed from Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385 to Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385; syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
Fetal anomalies v6.195 ITCH Achchuthan Shanmugasundram Publications for gene: ITCH were set to 20170897; 31091003
Fetal anomalies v6.194 ITCH Achchuthan Shanmugasundram edited their review of gene: ITCH: Added comment: As reviewed by Ludmila Volozonoka, the single patient from PMID:36338154 is the only reported case presenting prenatally with intrauterine growth retardation. Hence, this gene can only be rated red on Fetal anomalies panel. This gene is rated with red rating on the fetal panel from PanelApp Australia.

This gene has already been rated green or proposed for green rating on panels relevant for this multi-system phenotype such as R15 Primary immunodeficiency or monogenic inflammatory bowel disease, R413 Autoinflammatory disorders and R27 Paediatric disorders (via DDG2P panel).; Changed rating: RED; Changed publications to: 36338154; Changed phenotypes to: Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385, syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.194 SMN1 Eleanor Williams commented on gene: SMN1: Added the Q2_26_demote_red and currently-ngs-nonreportable tags due to limitations in reporting SNVs in this gene. It needs to be confirmed whether variants in this gene can be reported in this test by the labs.
Fetal anomalies v6.194 SMN1 Eleanor Williams Tag currently-ngs-unreportable tag was added to gene: SMN1.
Tag Q2_26_demote_red tag was added to gene: SMN1.
Tag Q2_26_expert_review tag was added to gene: SMN1.
Fetal anomalies v6.194 SKOR2 Eleanor Williams Phenotypes for gene: SKOR2 were changed from Cerebellar hypoplasia, neurodevelopmental delay to Cerebellar hypoplasia, neurodevelopmental delay; Valence-Farazi cerebellar ataxia syndrome, OMIM: 621386; Valence-Farazi cerebellar ataxia syndrome, MONDO:0980707
Fetal anomalies v6.193 SNAPIN Eleanor Williams Phenotypes for gene: SNAPIN were changed from neurodevelopmental disorder; Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393 to neurodevelopmental disorder; Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393; neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MONDO:0980710
Fetal anomalies v6.192 WSB2 Ida Ertmanska Phenotypes for gene: WSB2 were changed from neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; Luo-Agrawal neurodevelopmental syndrome, OMIM:621552 neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; Luo-Agrawal neurodevelopmental syndrome, OMIM:621552; neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.191 WSB2 Ida Ertmanska Phenotypes for gene: WSB2 were changed from neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; Luo-Agrawal neurodevelopmental syndrome, OMIM:621552 neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.190 UGGT1 Ida Ertmanska Added comment: Comment on phenotypes: Phenotype updated 22nd Apr 2026.
Fetal anomalies v6.190 UGGT1 Ida Ertmanska Phenotypes for gene: UGGT1 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation, type IICC, OMIM:621381; congenital disorder of glycosylation, type IIcc, MONDO:0980705
Fetal anomalies v6.189 SNAPIN Ida Ertmanska Tag Q1_26_promote_green was removed from gene: SNAPIN.
Fetal anomalies v6.189 GNAS Eleanor Williams commented on gene: GNAS
Fetal anomalies v6.189 WDHD1 Achchuthan Shanmugasundram Classified gene: WDHD1 as Amber List (moderate evidence)
Fetal anomalies v6.189 WDHD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Foetal abnormalities were reported in 14 unrelated families with biallelic WDHD1 variants. Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v6.189 WDHD1 Achchuthan Shanmugasundram Gene: wdhd1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.188 WDHD1 Achchuthan Shanmugasundram gene: WDHD1 was added
gene: WDHD1 was added to Fetal anomalies. Sources: Literature
Q2_26_promote_green tags were added to gene: WDHD1.
Mode of inheritance for gene: WDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDHD1 were set to 41962535
Phenotypes for gene: WDHD1 were set to microcephalic osteodysplastic primordial dwarfism, MONDO:0000060; Intrauterine growth retardation, HP:0001511
Review for gene: WDHD1 was set to GREEN
Added comment: PMID:41962535 (2026) reported the identification of biallelic hypomorphic variants in WDHD1 gene in 17 patients from 14 families with microcephalic primordial dwarfism (MPD) and a broad spectrum of additional abnormalities including acute liver failure. IUGR and/ or other foetal abnormalities such as microcephaly and oligohydramnios were reported in all cases. Four cases from three families had prenatal death or termination of pregnancy. There is also functional evidence available from patient-derived fibroblasts which supports the disease association.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype (records last accessed 14 April 2026).
Sources: Literature
Fetal anomalies v6.187 TRAF3IP1 Ida Ertmanska commented on gene: TRAF3IP1
Fetal anomalies v6.187 TRAF3IP1 Ida Ertmanska Tag new-gene-name tag was added to gene: TRAF3IP1.
Fetal anomalies v6.187 GTF3C3 Eleanor Williams Phenotypes for gene: GTF3C3 were changed from Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201 to Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201; neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MONDO:0978301
Fetal anomalies v6.186 PTBP1 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 10th Apr 2026.
Fetal anomalies v6.186 PTBP1 Ida Ertmanska Phenotypes for gene: PTBP1 were changed from neurodevelopmental disorder with skeletal dysplasia; Neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder with skeletal dysplasia; Neurodevelopmental disorder, MONDO:0700092; STAD syndrome, OMIM:621495
Fetal anomalies v6.185 MPDU1 Arina Puzriakova Phenotypes for gene: MPDU1 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type If, OMIM:609180
Fetal anomalies v6.184 FGFR1 Ida Ertmanska commented on gene: FGFR1: Comment on mode of inheritance: There are more than 3 individuals reported with biallelic FGFR1 variants and Hypogonadotropic hypogonadism. Individuals consistently presented with ectrodactyly, CC agenesis, and holoprosencephaly - disease features relevant to Fetal anomalies, as these would be detected on a prenatal scan. Hence, MOI should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next update.
Fetal anomalies v6.184 FGFR1 Ida Ertmanska Phenotypes for gene: FGFR1 were changed from IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; OSTEOGLOPHONIC DYSPLASIA; PFEIFFER SYNDROME; KALLMANN SYNDROME TYPE 2; Hartsfield syndrome; Encephalocraniocutaneous lipomatosis to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Hartsfield syndrome, OMIM:615465
Fetal anomalies v6.183 FGFR1 Ida Ertmanska Tag Q1_26_MOI tag was added to gene: FGFR1.
Fetal anomalies v6.183 FGFR1 Ida Ertmanska changed review comment from: PMID: 27055092 Mazen et al., 2016
Male patient with congenital heart disease (CHD) and ambiguous genitalia, referred at 15 months. Consanguineous parents, positive family history for CHD. Trio WES revealed a homozygous FGFR1 c.1418G>A variant (hg38: c.1424G>A, p.Arg475Gln - rs747333248, 34 total alleles in gnomAD v4.1.0, no homozygotes). Patient also homozygous for a STARD3 p.Ala247Val mutation, no disease association reported for this gene. Ambiguous genitalia highlighted as unusual presentation in FGFR1-related disease.

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

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

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

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

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

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


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

FGFR1 is associated with multiple dominant conditions in OMIM, including AD Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 and AD Hartsfield syndrome, OMIM:615465 (accessed 27th Feb 2026).
Fetal anomalies v6.183 FGFR1 Ida Ertmanska reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23154428, 23812909, 25394172, 27055092; Phenotypes: Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Hartsfield syndrome, OMIM:615465; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.183 FSD1L Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: FSD1L.
Fetal anomalies v6.183 FSD1L Ida Ertmanska Classified gene: FSD1L as Amber List (moderate evidence)
Fetal anomalies v6.183 FSD1L Ida Ertmanska Added comment: Comment on list classification: There are at least three unrelated fetal cases reported in literature with biallelic FSD1L variants. Based on available evidence, FSD1L should be promoted to Green at the next update.
Fetal anomalies v6.183 FSD1L Ida Ertmanska Gene: fsd1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.182 PPP2R1A Arina Puzriakova Phenotypes for gene: PPP2R1A were changed from INTELLECTUAL DISABILITY to Houge-Janssens syndrome 2, OMIM:616362
Fetal anomalies v6.181 ITCH Ludmila Volozonoka reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 36338154; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.181 C1orf127 Ida Ertmanska Tag gene-checked was removed from gene: C1orf127.
Fetal anomalies v6.181 C16orf62 Ida Ertmanska Tag gene-checked was removed from gene: C16orf62.
Fetal anomalies v6.181 EFCAB1 Ida Ertmanska Tag gene-checked was removed from gene: EFCAB1.
Fetal anomalies v6.181 C11orf70 Ida Ertmanska Tag gene-checked was removed from gene: C11orf70.
Fetal anomalies v6.181 AL117258.1 Ida Ertmanska Tag gene-checked was removed from gene: AL117258.1.
Fetal anomalies v6.181 PDE12 Ida Ertmanska Tag gene-checked tag was added to gene: PDE12.
Fetal anomalies v6.181 PDCD2 Ida Ertmanska Tag gene-checked tag was added to gene: PDCD2.
Fetal anomalies v6.181 NDUFAF8 Ida Ertmanska Tag gene-checked was removed from gene: NDUFAF8.
Fetal anomalies v6.181 LRRC56 Ida Ertmanska Tag gene-checked was removed from gene: LRRC56.
Fetal anomalies v6.181 LINC01082 Ida Ertmanska Tag gene-checked tag was added to gene: LINC01082.
Fetal anomalies v6.181 LINC01081 Ida Ertmanska Tag gene-checked tag was added to gene: LINC01081.
Fetal anomalies v6.181 YIF1B Arina Puzriakova Tag gene-checked was removed from gene: YIF1B.
Fetal anomalies v6.181 WSB2 Arina Puzriakova Tag gene-checked tag was added to gene: WSB2.
Fetal anomalies v6.181 KDM2B Ida Ertmanska Tag gene-checked was removed from gene: KDM2B.
Fetal anomalies v6.181 KDM2B Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 20 Mar 2026.
Fetal anomalies v6.181 KDM2B Ida Ertmanska Phenotypes for gene: KDM2B were changed from Neurodevelopmental disorder MONDO:0700092, KDM2B-related to Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, OMIM:621474
Fetal anomalies v6.180 KCNJ8 Ida Ertmanska Tag gene-checked tag was added to gene: KCNJ8.
Fetal anomalies v6.180 WDR91 Arina Puzriakova Tag gene-checked tag was added to gene: WDR91.
Fetal anomalies v6.180 WDR91 Arina Puzriakova Publications for gene: WDR91 were set to 32732226; 34028500; 28860274
Fetal anomalies v6.179 IKZF2 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotypes updated 20 Mar 2026.
Fetal anomalies v6.179 IKZF2 Ida Ertmanska Phenotypes for gene: IKZF2 were changed from Immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay, OMIM:621234 to Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233; Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234
Fetal anomalies v6.178 WDR37 Arina Puzriakova Tag gene-checked was removed from gene: WDR37.
Fetal anomalies v6.178 WBP11 Arina Puzriakova Tag gene-checked was removed from gene: WBP11.
Fetal anomalies v6.178 HMGB1 Ida Ertmanska Publications for gene: HMGB1 were set to 34164801
Fetal anomalies v6.177 HMGB1 Ida Ertmanska Tag gene-checked tag was added to gene: HMGB1.
Fetal anomalies v6.177 TXNDC15 Arina Puzriakova Tag gene-checked was removed from gene: TXNDC15.
Fetal anomalies v6.177 TUBGCP2 Arina Puzriakova Tag gene-checked was removed from gene: TUBGCP2.
Fetal anomalies v6.177 HECTD4 Ida Ertmanska Tag gene-checked was removed from gene: HECTD4.
Fetal anomalies v6.177 TRIT1 Arina Puzriakova Tag gene-checked was removed from gene: TRIT1.
Fetal anomalies v6.177 TRIM71 Arina Puzriakova Tag gene-checked was removed from gene: TRIM71.
Fetal anomalies v6.177 GREB1L Ida Ertmanska Tag gene-checked was removed from gene: GREB1L.
Fetal anomalies v6.177 GPKOW Ida Ertmanska Tag gene-checked tag was added to gene: GPKOW.
Fetal anomalies v6.177 TMEM94 Arina Puzriakova Tag gene-checked was removed from gene: TMEM94.
Fetal anomalies v6.177 GINS3 Ida Ertmanska Tag gene-checked tag was added to gene: GINS3.
Fetal anomalies v6.177 FRYL Ida Ertmanska Tag gene-checked was removed from gene: FRYL.
Fetal anomalies v6.177 FRYL Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 20 Mar 2026.
Fetal anomalies v6.177 FRYL Ida Ertmanska Phenotypes for gene: FRYL were changed from Neurodevelopmental disorder, MONDO:0700092, FRYL-related to Pan-Chung-Bellen syndrome, OMIM:621049; Pan-Chung-Bellen syndrome, MONDO:0975953
Fetal anomalies v6.176 TMEM17 Arina Puzriakova Tag gene-checked was removed from gene: TMEM17.
Fetal anomalies v6.176 TMEM218 Arina Puzriakova Tag gene-checked was removed from gene: TMEM218.
Fetal anomalies v6.176 TMEM17 Arina Puzriakova Publications for gene: TMEM17 were set to
Fetal anomalies v6.175 TMEM17 Arina Puzriakova Phenotypes for gene: TMEM17 were changed from Ciliopathy to ciliopathy, MONDO:0005308
Fetal anomalies v6.174 TMEM17 Arina Puzriakova Tag gene-checked tag was added to gene: TMEM17.
Fetal anomalies v6.174 TMEM167A Arina Puzriakova Tag gene-checked tag was added to gene: TMEM167A.
Fetal anomalies v6.174 TMEM167A Arina Puzriakova Publications for gene: TMEM167A were set to
Fetal anomalies v6.173 TMEM167A Arina Puzriakova Phenotypes for gene: TMEM167A were changed from Microcephaly, epilepsy and diabetes syndrome to Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328
Fetal anomalies v6.172 RREB1 Arina Puzriakova Publications for gene: RREB1 were set to
Fetal anomalies v6.171 RREB1 Arina Puzriakova Phenotypes for gene: RREB1 were changed from Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay to RASopathy, MONDO:0021060; Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay
Fetal anomalies v6.170 RREB1 Arina Puzriakova Tag gene-checked tag was added to gene: RREB1.
Fetal anomalies v6.170 RNU7-1 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype accessed on 20-03-2026
Fetal anomalies v6.170 RNU7-1 Arina Puzriakova Phenotypes for gene: RNU7-1 were changed from Aicardi-Goutieres syndrome 9 OMIM:619487 to Aicardi-Goutieres syndrome 9, OMIM:619487; Type I interferonopathy
Fetal anomalies v6.169 RNU7-1 Arina Puzriakova Tag gene-checked was removed from gene: RNU7-1.
Fetal anomalies v6.169 RNU5B-1 Arina Puzriakova Tag gene-checked was removed from gene: RNU5B-1.
Fetal anomalies v6.169 RNU4-2 Arina Puzriakova Tag gene-checked was removed from gene: RNU4-2.
Fetal anomalies v6.169 RNU12 Arina Puzriakova Tag gene-checked was removed from gene: RNU12.
Fetal anomalies v6.169 FRYL Ida Ertmanska Tag gene-checked tag was added to gene: FRYL.
Fetal anomalies v6.169 FAM177A1 Ida Ertmanska Tag gene-checked tag was added to gene: FAM177A1.
Fetal anomalies v6.169 EIF3B Ida Ertmanska Tag gene-checked tag was added to gene: EIF3B.
Fetal anomalies v6.169 DDX17 Ida Ertmanska Tag gene-checked tag was added to gene: DDX17.
Fetal anomalies v6.169 CSDE1 Ida Ertmanska Tag gene-checked tag was added to gene: CSDE1.
Fetal anomalies v6.169 CEP76 Ida Ertmanska Tag gene-checked tag was added to gene: CEP76.
Fetal anomalies v6.169 CCDC32 Ida Ertmanska Tag gene-checked tag was added to gene: CCDC32.
Fetal anomalies v6.169 CACHD1 Ida Ertmanska Tag gene-checked tag was added to gene: CACHD1.
Fetal anomalies v6.169 C14orf80 Ida Ertmanska Tag gene-checked tag was added to gene: C14orf80.
Fetal anomalies v6.169 SIX2 Arina Puzriakova Publications for gene: SIX2 were set to
Fetal anomalies v6.168 SIX2 Arina Puzriakova Phenotypes for gene: SIX2 were changed from frontonasal dysplasia to six2-related frontonasal dysplasia, MONDO:0044628
Fetal anomalies v6.167 SIX2 Arina Puzriakova Tag gene-checked tag was added to gene: SIX2.
Fetal anomalies v6.167 SHROOM4 Arina Puzriakova Tag gene-checked tag was added to gene: SHROOM4.
Fetal anomalies v6.167 BRF2 Ida Ertmanska Tag gene-checked tag was added to gene: BRF2.
Fetal anomalies v6.167 SHROOM4 Arina Puzriakova Phenotypes for gene: SHROOM4 were changed from Abnormal corpus callosum; congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems; Stocco dos Santos X-linked mental retardation syndrome, 300434 to Abnormal corpus callosum; congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
Fetal anomalies v6.166 SHROOM4 Arina Puzriakova Publications for gene: SHROOM4 were set to 36379543; 32565546
Fetal anomalies v6.165 TMEM251 Ida Ertmanska commented on gene: TMEM251
Fetal anomalies v6.165 RSG1 Ida Ertmanska commented on gene: RSG1
Fetal anomalies v6.165 SART3 Arina Puzriakova Tag gene-checked tag was added to gene: SART3.
Fetal anomalies v6.165 MYLPF Ida Ertmanska commented on gene: MYLPF
Fetal anomalies v6.165 TTC26 Ida Ertmanska commented on gene: TTC26
Fetal anomalies v6.165 RSG1 Arina Puzriakova Tag gene-checked tag was added to gene: RSG1.
Fetal anomalies v6.165 H3F3B Ida Ertmanska commented on gene: H3F3B
Fetal anomalies v6.165 RSG1 Arina Puzriakova Phenotypes for gene: RSG1 were changed from ciliopathy to ciliopathy, MONDO:0005308
Fetal anomalies v6.164 RSG1 Arina Puzriakova Publications for gene: RSG1 were set to
Fetal anomalies v6.163 ARF3 Ida Ertmanska Tag gene-checked tag was added to gene: ARF3.
Fetal anomalies v6.163 ABI2 Ida Ertmanska Tag gene-checked tag was added to gene: ABI2.
Fetal anomalies v6.163 RNU7-1 Arina Puzriakova Tag gene-checked tag was added to gene: RNU7-1.
Fetal anomalies v6.163 RNU5B-1 Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU5B-1.
Fetal anomalies v6.163 RNU2-2P Arina Puzriakova Phenotypes for gene: RNU2-2P were changed from neurodevelopmental disorder to Developmental and epileptic encephalopathy 119, OMIM:621304
Fetal anomalies v6.162 RBBP5 Arina Puzriakova Publications for gene: RBBP5 were set to
Fetal anomalies v6.161 RBBP5 Arina Puzriakova Phenotypes for gene: RBBP5 were changed from neurodevelopmental disorder to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.160 RBBP5 Arina Puzriakova Tag gene-checked tag was added to gene: RBBP5.
Fetal anomalies v6.160 PRKCI Arina Puzriakova Tag gene-checked tag was added to gene: PRKCI.
Fetal anomalies v6.160 PRKCI Arina Puzriakova Phenotypes for gene: PRKCI were changed from Van der Woude syndrome to Van der Woude syndrome, MONDO:0019508
Fetal anomalies v6.159 TMEM251 Ida Ertmanska Tag new-gene-name tag was added to gene: TMEM251.
Fetal anomalies v6.159 PPP1R21 Arina Puzriakova Tag gene-checked was removed from gene: PPP1R21.
Fetal anomalies v6.159 PPP1R21 Arina Puzriakova Tag gene-checked tag was added to gene: PPP1R21.
Fetal anomalies v6.159 RSG1 Ida Ertmanska Tag new-gene-name tag was added to gene: RSG1.
Fetal anomalies v6.159 MYLPF Ida Ertmanska Tag new-gene-name tag was added to gene: MYLPF.
Fetal anomalies v6.159 H3F3B Ida Ertmanska Tag new-gene-name tag was added to gene: H3F3B.
Fetal anomalies v6.159 TTC26 Ida Ertmanska Tag new-gene-name tag was added to gene: TTC26.
Fetal anomalies v6.159 PHF5A Arina Puzriakova Phenotypes for gene: PHF5A were changed from PHF5A-related neurodevelopmental disorder with congenital malformations to PHF5A-related neurodevelopmental disorder with congenital malformations; neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.158 PDIA6 Arina Puzriakova Tag gene-checked tag was added to gene: PDIA6.
Fetal anomalies v6.158 ZNF865 Eleanor Williams Tag Q1_26_promote_green tag was added to gene: ZNF865.
Fetal anomalies v6.158 ZNF865 Eleanor Williams Classified gene: ZNF865 as Amber List (moderate evidence)
Fetal anomalies v6.158 ZNF865 Eleanor Williams Added comment: Comment on list classification: Promoting to amber with a recommendation of a green rating with a monoallelic MOI following GMS review.
Fetal anomalies v6.158 ZNF865 Eleanor Williams Gene: znf865 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.157 IKBKG Achchuthan Shanmugasundram Tag currently-ngs-unreportable tag was added to gene: IKBKG.
Fetal anomalies v6.157 SCN4A Achchuthan Shanmugasundram Tag Q2_25_ MOI was removed from gene: SCN4A.
Fetal anomalies v6.157 PTBP1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PTBP1.
Fetal anomalies v6.157 PTBP1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v6.157 MYH3 Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: MYH3.
Fetal anomalies v6.157 LMNB2 Achchuthan Shanmugasundram Tag Q2_25_ MOI was removed from gene: LMNB2.
Tag Q2_25_ NHS_review was removed from gene: LMNB2.
Fetal anomalies v6.157 LMNB2 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. The GMS reviewers noted as follows: Pathogenic monoallelic missense variants are causative of primary microcephaly. Homozygous loss-of-function variant reported in two related newborns with severe brain development abnormalities and perinatal death, phenotype consistent with Lmnb2-deficient mouse models (PMID:40011009). At least one further unrelated case is required to confirm an additional biallelic loss-of-function mechanism for LMNB2-related disease (mechanism of pathogenicity for monoallelic variants is uncertain).; to: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted.

The GMS reviewers noted as follows:
Pathogenic monoallelic missense variants are causative of primary microcephaly. Homozygous loss-of-function variant reported in two related newborns with severe brain development abnormalities and perinatal death, phenotype consistent with Lmnb2-deficient mouse models (PMID:40011009). At least one further unrelated case is required to confirm an additional biallelic loss-of-function mechanism for LMNB2-related disease (mechanism of pathogenicity for monoallelic variants is uncertain).
Fetal anomalies v6.157 GPKOW Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: GPKOW.
Fetal anomalies v6.157 GPKOW Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v6.157 GPKOW Achchuthan Shanmugasundram Deleted their comment
Fetal anomalies v6.157 EVC2 Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: EVC2.
Fetal anomalies v6.157 EVC2 Achchuthan Shanmugasundram changed review comment from: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Heterozygous variants cause Weyers acrofacial dysostosis: dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Polydactyly detectable prenatally. Hence, monoallelic MOI should be added.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

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

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

The GMS reviewers noted as follows:
Biallelic LoF variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. Monoallelic variants are reported in association with CAKUT - de novo frameshift in one case with bilateral CAKUT and two rare missense variants in 3 further cases (PMID:28334964). Gene is not depleted for LoF variants and >50 variants that are classified as (likely) pathogenic in ClinVar are present in the heterozygous state in gnomAD. If there is a genuine association between monoallelic LoF variants and CAKUT, penetrance must be low. MOI should remain as biallelic only.
Fetal anomalies v6.157 SIX5 Achchuthan Shanmugasundram Tag Q3_25_expert_review was removed from gene: SIX5.
Tag Q3_25_demote_red was removed from gene: SIX5.
Fetal anomalies v6.157 SIX5 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Disputed by ClinGen and now red on most other panels. Variants in the literature have high frequency in gnomad.; to: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Disputed by ClinGen and now red on most other panels. Variants in the literature have high frequency in gnomad.
Fetal anomalies v6.157 PLD1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PLD1.
Tag Q3_25_expert_review was removed from gene: PLD1.
Fetal anomalies v6.157 PLD1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: ClinGen - definitive. Green on Aus panel. Fetal cases previously reported. It should be noted however that isolated cardiac is not an idication for R21 but there is one with abdominal effusions . It was downgraded due to downgrade on other panels so all should go green if fetal anomalies does.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
ClinGen - definitive. Green on Aus panel. Fetal cases previously reported. It should be noted however that isolated cardiac is not an idication for R21 but there is one with abdominal effusions . It was downgraded due to downgrade on other panels so all should go green if fetal anomalies does.
Fetal anomalies v6.157 LINC01082 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LINC01082.
Tag Q3_25_expert_review was removed from gene: LINC01082.
Tag Q3_25_NHS_review was removed from gene: LINC01082.
Fetal anomalies v6.157 LINC01082 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Deletions of LINC01081/LINC01082 cause same phenotype as variants in FOXF1, which is green on the fetal anomalies panel. No reports of sequence variants in LINC01081/LINC01082. Deletions may not be detectable by exome sequencing but gene should be added to panel in anticipation of WGS.; to: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Deletions of LINC01081/LINC01082 cause same phenotype as variants in FOXF1, which is green on the fetal anomalies panel. No reports of sequence variants in LINC01081/LINC01082. Deletions may not be detectable by exome sequencing but gene should be added to panel in anticipation of WGS.
Fetal anomalies v6.157 LINC01081 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LINC01081.
Tag Q3_25_expert_review was removed from gene: LINC01081.
Tag Q3_25_NHS_review was removed from gene: LINC01081.
Fetal anomalies v6.157 LINC01081 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Deletions of LINC01081/LINC01082 cause same phenotype as variants in FOXF1, which is green on the fetal anomalies panel. No reports of sequence variants in LINC01081/LINC01082. Deletions may not be detectable by exome sequencing but gene should be added to panel in anticipation of WGS.; to: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Deletions of LINC01081/LINC01082 cause same phenotype as variants in FOXF1, which is green on the fetal anomalies panel. No reports of sequence variants in LINC01081/LINC01082. Deletions may not be detectable by exome sequencing but gene should be added to panel in anticipation of WGS.
Fetal anomalies v6.157 KIAA0556 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: KIAA0556.
Tag Q3_25_expert_review was removed from gene: KIAA0556.
Fetal anomalies v6.157 KIAA0556 Achchuthan Shanmugasundram Deleted their comment
Fetal anomalies v6.157 EMX2 Achchuthan Shanmugasundram Tag Q3_25_expert_review was removed from gene: EMX2.
Tag Q3_25_demote_amber was removed from gene: EMX2.
Fetal anomalies v6.157 EMX2 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Multiple patients reported in 1997 with schizencephaly and de novo EMX2 variants detected by targeted sequencing (PMID:9359037). However, subsequent sequencing studies in schizencephaly cohorts have not found any further cases (84 cases in PMID:17506092, 39 cases in PMID:18409201, 52 cases in PMID:20157829). Red on Australian PanelApp. Hence, the gene should be demoted from green rating.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Multiple patients reported in 1997 with schizencephaly and de novo EMX2 variants detected by targeted sequencing (PMID:9359037). However, subsequent sequencing studies in schizencephaly cohorts have not found any further cases (84 cases in PMID:17506092, 39 cases in PMID:18409201, 52 cases in PMID:20157829). Red on Australian PanelApp. Hence, the gene should be demoted from green rating.
Fetal anomalies v6.157 DISP1 Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: DISP1.
Tag Q3_25_expert_review was removed from gene: DISP1.
Fetal anomalies v6.157 DISP1 Achchuthan Shanmugasundram changed review comment from: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Listed as both AD and AR in OMIM, with biallelic variants described as causal and monoallelic as a risk factor. PMID:38529886 - DISP1 monoallelic LoF or biallelic variants associated with minor forms of HPE (orofacial cleft, central incisor); in severe HPE, DISP1 variants occur together with a variant in another HPE gene. Green for monoallelic/biallelic on Australian panel.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Listed as both AD and AR in OMIM, with biallelic variants described as causal and monoallelic as a risk factor. PMID:38529886 - DISP1 monoallelic LoF or biallelic variants associated with minor forms of HPE (orofacial cleft, central incisor); in severe HPE, DISP1 variants occur together with a variant in another HPE gene. Green for monoallelic/biallelic on Australian panel.
Fetal anomalies v6.157 SIX5 Achchuthan Shanmugasundram reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 SCN4A Achchuthan Shanmugasundram commented on gene: SCN4A
Fetal anomalies v6.157 PTBP1 Achchuthan Shanmugasundram reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 PLD1 Achchuthan Shanmugasundram edited their review of gene: PLD1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: ClinGen - definitive. Green on Aus panel. Fetal cases previously reported. It should be noted however that isolated cardiac is not an idication for R21 but there is one with abdominal effusions . It was downgraded due to downgrade on other panels so all should go green if fetal anomalies does.; Changed rating: GREEN
Fetal anomalies v6.157 MYH3 Achchuthan Shanmugasundram commented on gene: MYH3
Fetal anomalies v6.157 MED12 Achchuthan Shanmugasundram commented on gene: MED12
Fetal anomalies v6.157 LMNB2 Achchuthan Shanmugasundram commented on gene: LMNB2
Fetal anomalies v6.157 LINC01082 Achchuthan Shanmugasundram reviewed gene: LINC01082: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 LINC01081 Achchuthan Shanmugasundram reviewed gene: LINC01081: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 LIFR Achchuthan Shanmugasundram commented on gene: LIFR
Fetal anomalies v6.157 KIAA0556 Achchuthan Shanmugasundram edited their review of gene: KIAA0556: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.157 GPKOW Achchuthan Shanmugasundram reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 EVC2 Achchuthan Shanmugasundram commented on gene: EVC2
Fetal anomalies v6.157 EMX2 Achchuthan Shanmugasundram reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 DISP1 Achchuthan Shanmugasundram commented on gene: DISP1
Fetal anomalies v6.156 SIX5 Achchuthan Shanmugasundram Source NHS GMS was added to SIX5.
Source Expert Review Red was added to SIX5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v6.156 SCN4A Achchuthan Shanmugasundram Source NHS GMS was added to SCN4A.
Mode of inheritance for gene SCN4A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.156 PLD1 Achchuthan Shanmugasundram Source Expert Review Green was added to PLD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.156 MYH3 Achchuthan Shanmugasundram Source NHS GMS was added to MYH3.
Mode of inheritance for gene MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.156 MED12 Achchuthan Shanmugasundram Source NHS GMS was added to MED12.
Mode of inheritance for gene MED12 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v6.156 LINC01082 Achchuthan Shanmugasundram Source Expert Review Green was added to LINC01082.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.156 LINC01081 Achchuthan Shanmugasundram Source Expert Review Green was added to LINC01081.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.156 GPKOW Achchuthan Shanmugasundram Source NHS GMS was added to GPKOW.
Fetal anomalies v6.156 EVC2 Achchuthan Shanmugasundram Source NHS GMS was added to EVC2.
Mode of inheritance for gene EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.156 EMX2 Achchuthan Shanmugasundram Source NHS GMS was added to EMX2.
Source Expert Review Amber was added to EMX2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v6.156 DISP1 Achchuthan Shanmugasundram Source NHS GMS was added to DISP1.
Mode of inheritance for gene DISP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.155 RNU7-1 Arina Puzriakova Publications for gene: RNU7-1 were set to
Fetal anomalies v6.154 RNU7-1 Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU7-1.
Fetal anomalies v6.154 RNU2-2P Arina Puzriakova commented on gene: RNU2-2P: The new-gene-name tag has been added as the latest HGNC symbol is RNU2-2.
Fetal anomalies v6.154 RNU2-2P Arina Puzriakova Tag new-gene-name tag was added to gene: RNU2-2P.
Tag locus-type-rna-small-nuclear tag was added to gene: RNU2-2P.
Fetal anomalies v6.154 RNU2-2P Arina Puzriakova Publications for gene: RNU2-2P were set to
Fetal anomalies v6.153 CLCNKB Arina Puzriakova commented on gene: CLCNKB: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). The literature indicates that CLCNKB variants in patients are typically biallelic. While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.
Fetal anomalies v6.153 CLCNKB Arina Puzriakova Publications for gene: CLCNKB were set to
Fetal anomalies v6.152 CLCNKB Arina Puzriakova Tag digenic tag was added to gene: CLCNKB.
Fetal anomalies v6.152 CLCNKA Arina Puzriakova changed review comment from: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.; to: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). The literature indicates that CLCNKA variants in patients are typically biallelic. While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.
Fetal anomalies v6.152 CLCNKA Arina Puzriakova commented on gene: CLCNKA: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.
Fetal anomalies v6.152 CLCNKA Arina Puzriakova Tag digenic tag was added to gene: CLCNKA.
Fetal anomalies v6.152 ACVR2B Arina Puzriakova Added phenotypes Heterotaxy, visceral, 4, autosomal for gene: ACVR2B
Fetal anomalies v6.152 SPTBN1 Arina Puzriakova Added phenotypes Developmental delay, impaired speech, and behavioral abnormalities, OMIM:619475 for gene: SPTBN1
Fetal anomalies v6.152 TAF13 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal recessive 60, OMIM:617432 for gene: TAF13
Fetal anomalies v6.152 PLXNB2 Arina Puzriakova Added phenotypes amelogenesis imperfecta, hearing loss and intellectual disability for gene: PLXNB2
Fetal anomalies v6.152 ZDHHC9 Arina Puzriakova Added phenotypes Intellectual developmental disorder, X-linked syndromic, Raymond type, OMIM:300799 for gene: ZDHHC9
Fetal anomalies v6.152 TRIO Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, OMIM:618825 for gene: TRIO
Fetal anomalies v6.152 SLC9A6 Arina Puzriakova Added phenotypes Intellectual developmental disorder, X-linked syndromic, Christianson type, OMIM:300243 for gene: SLC9A6
Fetal anomalies v6.152 SHROOM4 Arina Puzriakova Added phenotypes congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems for gene: SHROOM4
Fetal anomalies v6.152 PLXNA1 Arina Puzriakova Added phenotypes Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955 for gene: PLXNA1
Fetal anomalies v6.152 HDAC2 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: HDAC2
Fetal anomalies v6.152 CHD8 Arina Puzriakova Added phenotypes Intellectual developmental disorder with autism and macrocephaly, OMIM:615032 for gene: CHD8
Fetal anomalies v6.152 BRWD3 Arina Puzriakova Added phenotypes Intellectual developmental disorder, X-linked 93, OMIM:300659 for gene: BRWD3
Fetal anomalies v6.152 SGCG Arina Puzriakova Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700 for gene: SGCG
Fetal anomalies v6.152 SGCD Arina Puzriakova Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 6, OMIM:601287 for gene: SGCD
Fetal anomalies v6.152 SGCB Arina Puzriakova Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 4, OMIM:604286 for gene: SGCB
Fetal anomalies v6.152 SGCA Arina Puzriakova Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099 for gene: SGCA
Fetal anomalies v6.152 PPP1R13L Arina Puzriakova Added phenotypes Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519 for gene: PPP1R13L
Fetal anomalies v6.152 POLA1 Arina Puzriakova Added phenotypes Van Esch-O'Driscoll syndrome, OMIM:301030 for gene: POLA1
Fetal anomalies v6.152 PIGU Arina Puzriakova Added phenotypes Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590 for gene: PIGU
Fetal anomalies v6.152 PIGK Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, OMIM:618879 for gene: PIGK
Fetal anomalies v6.152 PIGB Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 80, OMIM:618580 for gene: PIGB
Fetal anomalies v6.152 WDR11 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal recessive 78, OMIM:620237 for gene: WDR11
Fetal anomalies v6.152 WASHC3 Arina Puzriakova Added phenotypes short stature, distinctive facies, and neurodevelopmental abnormalities for gene: WASHC3
Fetal anomalies v6.152 VPS51 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 13, OMIM:618606 for gene: VPS51
Fetal anomalies v6.152 VPS50 Arina Puzriakova Added phenotypes neurodevelopmental disorder with microcephaly, seizures and neonatal cholestasis, OMIM:619685 for gene: VPS50
Fetal anomalies v6.152 VPS33A Arina Puzriakova Added phenotypes Mucopolysaccharidosis-plus syndrome, OMIM:617303 for gene: VPS33A
Fetal anomalies v6.152 UGGT1 Arina Puzriakova Added phenotypes Congenital disorder of glycosylation for gene: UGGT1
Fetal anomalies v6.152 TUBGCP2 Arina Puzriakova Added phenotypes Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737 for gene: TUBGCP2
Fetal anomalies v6.152 CLCNKB Arina Puzriakova Added phenotypes Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter syndrome, type 3, OMIM:607364 for gene: CLCNKB
Fetal anomalies v6.152 CLCNKA Arina Puzriakova Added phenotypes Bartter syndrome, type 4b, digenic, OMIM:613090 for gene: CLCNKA
Fetal anomalies v6.152 DHX37 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, OMIM:618731 for gene: DHX37
Fetal anomalies v6.152 SNAPIN Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: SNAPIN
Fetal anomalies v6.152 PATJ Arina Puzriakova Added phenotypes ciliopathy for gene: PATJ
Fetal anomalies v6.152 NSD2 Arina Puzriakova Added phenotypes Rauch-Steindl syndrome OMIM:619695 for gene: NSD2
Fetal anomalies v6.152 MNS1 Arina Puzriakova Added phenotypes Heterotaxy, visceral, 9, autosomal, with male infertility (Autosomal recessive) for gene: MNS1
Fetal anomalies v6.152 CCP110 Arina Puzriakova Added phenotypes ciliopathy for gene: CCP110
Fetal anomalies v6.152 PLXNB3 Arina Puzriakova Added phenotypes congenital heart disease with neurodevelopmental disabilities for gene: PLXNB3
Fetal anomalies v6.152 ARHGEF17 Arina Puzriakova Added phenotypes Neurodevelopmental disorder for gene: ARHGEF17
Fetal anomalies v6.152 FBXO11 Arina Puzriakova Added phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089 for gene: FBXO11
Fetal anomalies v6.152 PPP1R12A Arina Puzriakova Added phenotypes Genitourinary and/or brain malformation syndrome, OMIM:618820 for gene: PPP1R12A
Fetal anomalies v6.152 PRDM13 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 17, OMIM:619909 for gene: PRDM13
Fetal anomalies v6.152 CDC40 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 15, OMIM:619302 for gene: CDC40
Fetal anomalies v6.152 PCLO Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 3, OMIM:608027 for gene: PCLO
Fetal anomalies v6.152 EXOSC1 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 1F, OMIM:619304 for gene: EXOSC1
Fetal anomalies v6.152 EXOSC9 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 1D, OMIM:618065 for gene: EXOSC9
Fetal anomalies v6.152 CCT8 Arina Puzriakova Added phenotypes Brain malformations, intellectual disability, and seizures for gene: CCT8
Fetal anomalies v6.152 CCM2L Arina Puzriakova Added phenotypes Tetralogy of Fallot for gene: CCM2L
Fetal anomalies v6.152 CCDC88A Arina Puzriakova Added phenotypes PEHO syndrome-like, OMIM:617507 for gene: CCDC88A
Fetal anomalies v6.152 CBFB Arina Puzriakova Added phenotypes Cleidocranial dysplasia-2, OMIM:620099 for gene: CBFB
Fetal anomalies v6.152 BRF2 Arina Puzriakova Added phenotypes Syndromic immunodeficiency and developmental disorders for gene: BRF2
Fetal anomalies v6.152 BRF1 Arina Puzriakova Added phenotypes Cerebellofaciodental syndrome, OMIM:616202 for gene: BRF1
Fetal anomalies v6.152 B9D1 Arina Puzriakova Added phenotypes Joubert syndrome 27, OMIM:617120 for gene: B9D1
Fetal anomalies v6.152 ARAF Arina Puzriakova Added phenotypes Lymphatic anomaly for gene: ARAF
Fetal anomalies v6.152 ANKRD17 Arina Puzriakova Added phenotypes Chopra-Amiel-Gordon syndrome, OMIM:619504 for gene: ANKRD17
Fetal anomalies v6.152 ALKBH8 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal recessive 71, OMIM:618504 for gene: ALKBH8
Fetal anomalies v6.152 AIMP2 Arina Puzriakova Added phenotypes Leukodystrophy, hypomyelinating, 17, OMIM:618006 for gene: AIMP2
Fetal anomalies v6.152 AIMP1 Arina Puzriakova Added phenotypes Leukodystrophy, hypomyelinating, 3, OMIM:260600 for gene: AIMP1
Fetal anomalies v6.152 ADAT3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286 for gene: ADAT3
Fetal anomalies v6.152 ADAMTS13 Arina Puzriakova Added phenotypes Hereditary thrombotic thrombocytopenic purpura, OMIM:274150 for gene: ADAMTS13
Fetal anomalies v6.152 ABI2 Arina Puzriakova Added phenotypes Intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities for gene: ABI2
Fetal anomalies v6.152 RHOBTB2 Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 64, OMIM:618004 for gene: RHOBTB2
Fetal anomalies v6.152 RBBP5 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: RBBP5
Fetal anomalies v6.152 RALGAPA1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, OMIM:618797 for gene: RALGAPA1
Fetal anomalies v6.152 RALA Arina Puzriakova Added phenotypes Hiatt-Neu-Cooper neurodevelopmental syndrome, OMIM:619311 for gene: RALA
Fetal anomalies v6.152 PPP1R21 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, OMIM:619383 for gene: PPP1R21
Fetal anomalies v6.152 RNU2-2P Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: RNU2-2P
Fetal anomalies v6.152 ACVR1 Arina Puzriakova Added phenotypes Fibrodysplasia ossificans progressiva, OMIM:135100 for gene: ACVR1
Fetal anomalies v6.152 TMPRSS7 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: TMPRSS7
Fetal anomalies v6.152 IL6ST Arina Puzriakova Added phenotypes Stuve-Wiedemann syndrome 2, OMIM:619751 for gene: IL6ST
Fetal anomalies v6.152 ZBTB7A Arina Puzriakova Added phenotypes Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769 for gene: ZBTB7A
Fetal anomalies v6.152 ASXL2 Arina Puzriakova Added phenotypes Shashi-Pena syndrome, OMIM:617190 for gene: ASXL2
Fetal anomalies v6.152 ZPR1 Arina Puzriakova Added phenotypes Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 for gene: ZPR1
Fetal anomalies v6.152 ZNF668 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194 for gene: ZNF668
Fetal anomalies v6.152 YY1AP1 Arina Puzriakova Added phenotypes Grange syndrome, OMIM:602531 for gene: YY1AP1
Fetal anomalies v6.152 WNK3 Arina Puzriakova Added phenotypes Prieto syndrome, OMIM:309610 for gene: WNK3
Fetal anomalies v6.152 TEK Arina Puzriakova Added phenotypes Venous malformations, multiple cutaneous and mucosal, OMIM:600195 for gene: TEK
Fetal anomalies v6.152 GATAD2B Arina Puzriakova Added phenotypes GAND syndrome, OMIM:615074 for gene: GATAD2B
Fetal anomalies v6.152 CACHD1 Arina Puzriakova Added phenotypes Neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities for gene: CACHD1
Fetal anomalies v6.152 BAZ2B Arina Puzriakova Added phenotypes Complex neurodevelopmental disorder for gene: BAZ2B
Fetal anomalies v6.152 ARHGEF40 Arina Puzriakova Added phenotypes Congenital anomalies and developmental delay for gene: ARHGEF40
Fetal anomalies v6.152 SMARCC2 Arina Puzriakova Added phenotypes Coffin-Siris syndrome 8, OMIM:618362 for gene: SMARCC2
Fetal anomalies v6.152 SATB1 Arina Puzriakova Added phenotypes Developmental delay with dysmorphic facies and dental anomalies, OMIM:619228 for gene: SATB1
Fetal anomalies v6.152 SART3 Arina Puzriakova Added phenotypes Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY Gonadal dysgenesis for gene: SART3
Fetal anomalies v6.152 ROBO4 Arina Puzriakova Added phenotypes Aortic valve disease 3, OMIM:618496 for gene: ROBO4
Fetal anomalies v6.152 RNF13 Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 73, OMIM:618379 for gene: RNF13
Fetal anomalies v6.152 TMEM263 Arina Puzriakova Added phenotypes skeletal dysplasia for gene: TMEM263
Fetal anomalies v6.152 TMEM251 Arina Puzriakova Added phenotypes Dysostosis multiplex, Ain-Naz type, OMIM:619345 for gene: TMEM251
Fetal anomalies v6.152 SMG8 Arina Puzriakova Added phenotypes Alzahrani-Kuwahara syndrome, OMIM:619268 for gene: SMG8
Fetal anomalies v6.152 SMC5 Arina Puzriakova Added phenotypes Atelis syndrome 2, OMIM:620185 for gene: SMC5
Fetal anomalies v6.152 SLF2 Arina Puzriakova Added phenotypes Atelis syndrome 1, OMIM:620184 for gene: SLF2
Fetal anomalies v6.152 SLC5A6 Arina Puzriakova Added phenotypes Sodium-dependent multivitamin transporter deficiency, OMIM:618973 for gene: SLC5A6
Fetal anomalies v6.152 SLC13A1 Arina Puzriakova Added phenotypes short stature, scoliosis, and skeletal dysplasia for gene: SLC13A1
Fetal anomalies v6.152 SIX2 Arina Puzriakova Added phenotypes frontonasal dysplasia for gene: SIX2
Fetal anomalies v6.152 SIX1 Arina Puzriakova Added phenotypes Branchiootic syndrome 3, OMIM:608389 for gene: SIX1
Fetal anomalies v6.152 SELENON Arina Puzriakova Added phenotypes Congenital myopathy 3 with rigid spine; OMIM:602771 for gene: SELENON
Fetal anomalies v6.152 CSDE1 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: CSDE1
Fetal anomalies v6.152 GINS3 Arina Puzriakova Added phenotypes Meier-Gorlin syndrome for gene: GINS3
Fetal anomalies v6.152 CAMSAP1 Arina Puzriakova Added phenotypes Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316 for gene: CAMSAP1
Fetal anomalies v6.152 BUB1 Arina Puzriakova Added phenotypes Microcephaly 30, primary, autosomal recessive, OMIM:620183 for gene: BUB1
Fetal anomalies v6.152 RAB35 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: RAB35
Fetal anomalies v6.152 ARF3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder, brain abnormality for gene: ARF3
Fetal anomalies v6.152 ANKLE2 Arina Puzriakova Added phenotypes Microcephaly 16, primary, autosomal recessive, OMIM:616681 for gene: ANKLE2
Fetal anomalies v6.152 ETV2 Arina Puzriakova Added phenotypes congenital heart defects, vertebral abnormalities and preaxial polydactyly for gene: ETV2
Fetal anomalies v6.152 RAD51C Arina Puzriakova Added phenotypes Fanconi anemia, complementation group O, OMIM:613390 for gene: RAD51C
Fetal anomalies v6.152 CEP162 Arina Puzriakova Added phenotypes ciliopathy for gene: CEP162
Fetal anomalies v6.152 LINC01578 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, OMIM:621012 for gene: LINC01578
Fetal anomalies v6.152 KCNN4 Arina Puzriakova Added phenotypes Dehydrated hereditary stomatocytosis 2, OMIM:616689 for gene: KCNN4
Fetal anomalies v6.152 MMP9 Arina Puzriakova Added phenotypes Metaphyseal anadysplasia 2, OMIM:613073 for gene: MMP9
Fetal anomalies v6.152 KDM4B Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal dominant 65, OMIM:619320 for gene: KDM4B
Fetal anomalies v6.152 TMEM167A Arina Puzriakova Added phenotypes Microcephaly, epilepsy and diabetes syndrome for gene: TMEM167A
Fetal anomalies v6.152 PTBP1 Arina Puzriakova Added phenotypes neurodevelopmental disorder with skeletal dysplasia for gene: PTBP1
Fetal anomalies v6.152 PDIA6 Arina Puzriakova Added phenotypes Polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay for gene: PDIA6
Fetal anomalies v6.152 CRELD1 Arina Puzriakova Added phenotypes Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 for gene: CRELD1
Fetal anomalies v6.152 DLG3 Arina Puzriakova Added phenotypes Intellectual developmental disorder, X-linked 90, OMIM:300850 for gene: DLG3
Fetal anomalies v6.152 SF1 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: SF1
Fetal anomalies v6.152 TH Arina Puzriakova Added phenotypes Segawa syndrome, recessive, OMIM:605407 for gene: TH
Fetal anomalies v6.152 YRDC Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 10, OMIM:619609 for gene: YRDC
Fetal anomalies v6.152 NUP133 Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 8, OMIM:618349 for gene: NUP133
Fetal anomalies v6.152 GON7 Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 9, OMIM:619603 for gene: GON7
Fetal anomalies v6.152 TPRKB Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 5, OMIM:617731 for gene: TPRKB
Fetal anomalies v6.152 TP53RK Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 4, OMIM:617730 for gene: TP53RK
Fetal anomalies v6.152 THUMPD1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989 for gene: THUMPD1
Fetal anomalies v6.152 TASP1 Arina Puzriakova Added phenotypes Suleiman-El-Hattab syndrome, OMIM:618950 for gene: TASP1
Fetal anomalies v6.152 SPOP Arina Puzriakova Added phenotypes Nabais Sa-de Vries syndrome, type 1, OMIM:618828; Nabais Sa-de Vries syndrome, type 2, OMIM:618829 for gene: SPOP
Fetal anomalies v6.152 SOX4 Arina Puzriakova Added phenotypes Intellectual developmental disorder with speech delay and dysmorphic facies, OMIM:618506 for gene: SOX4
Fetal anomalies v6.152 RSG1 Arina Puzriakova Added phenotypes ciliopathy for gene: RSG1
Fetal anomalies v6.152 DHRS3 Arina Puzriakova Added phenotypes coronal craniosynostosis, dysmorphic facial features, congenital heart disease, scoliosis for gene: DHRS3
Fetal anomalies v6.152 NR6A1 Arina Puzriakova Added phenotypes Oculovertebral syndrome, OMIM:621277 for gene: NR6A1
Fetal anomalies v6.152 WSB2 Arina Puzriakova Added phenotypes neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly for gene: WSB2
Fetal anomalies v6.152 WDR91 Arina Puzriakova Added phenotypes microcephaly, dysmorphic features, organomegaly, psychomotor delay, hypotonia, sensorineural hearing impairment, visual impairment for gene: WDR91
Fetal anomalies v6.152 TTC26 Arina Puzriakova Added phenotypes Biliary, renal, neurologic, and skeletal syndrome, OMIM:619534 for gene: TTC26
Fetal anomalies v6.152 TMEM17 Arina Puzriakova Added phenotypes Ciliopathy for gene: TMEM17
Fetal anomalies v6.152 SMAD5 Arina Puzriakova Added phenotypes congenital heart disease for gene: SMAD5
Fetal anomalies v6.152 SCNM1 Arina Puzriakova Added phenotypes Orofaciodigital syndrome XIX; OMIM:620107 for gene: SCNM1
Fetal anomalies v6.152 RREB1 Arina Puzriakova Added phenotypes Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay for gene: RREB1
Fetal anomalies v6.152 PDCD6IP Arina Puzriakova Added phenotypes Microcephaly 29, primary, autosomal recessive, OMIM:620047 for gene: PDCD6IP
Fetal anomalies v6.152 GPKOW Arina Puzriakova Added phenotypes Intrauterine growth restriction, microcephaly/microencephaly, and eye, brain, skin, and skeletal abnormalities for gene: GPKOW
Fetal anomalies v6.152 CEP76 Arina Puzriakova Added phenotypes Joubert syndrome; Bardet-Biedl syndrome; retinitis pigmentosa; complex neurodevelopmental disorder MONDO:0100038 for gene: CEP76
Fetal anomalies v6.152 CCDC32 Arina Puzriakova Added phenotypes Cardiofacioneurodevelopmental syndrome, OMIM:619123 for gene: CCDC32
Fetal anomalies v6.152 BBIP1 Arina Puzriakova Added phenotypes Bardet-Biedl syndrome 18, MIM #615995 for gene: BBIP1
Fetal anomalies v6.152 RNU7-1 Arina Puzriakova Added phenotypes Aicardi-Goutieres syndrome 9 OMIM:619487 for gene: RNU7-1
Fetal anomalies v6.152 MYLPF Arina Puzriakova Added phenotypes Arthrogryposis, distal, type 1C, OMIM:617378 for gene: MYLPF
Fetal anomalies v6.152 LMOD2 Arina Puzriakova Added phenotypes Cardiomyopathy, dilated, 2G, OMIM:619897 for gene: LMOD2
Fetal anomalies v6.152 LHX2 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: LHX2
Fetal anomalies v6.152 HMGB1 Arina Puzriakova Added phenotypes brachyphalangy, polydactyly and tibial aplasia syndrome for gene: HMGB1
Fetal anomalies v6.152 NUDCD2 Arina Puzriakova Added phenotypes multiple malformation syndrome with cholestasis and renal failure for gene: NUDCD2
Fetal anomalies v6.152 RNU5A-1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder for gene: RNU5A-1
Fetal anomalies v6.152 RNPC3 Arina Puzriakova Added phenotypes Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 for gene: RNPC3
Fetal anomalies v6.152 RASA2 Arina Puzriakova Added phenotypes Noonan syndrome for gene: RASA2
Fetal anomalies v6.152 PURA Arina Puzriakova Added phenotypes Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, OMIM:616158 for gene: PURA
Fetal anomalies v6.152 PLOD3 Arina Puzriakova Added phenotypes BCARD syndrome (lysyl hydroxylase 3 deficiency) OMIM:612394 for gene: PLOD3
Fetal anomalies v6.152 PDCD2 Arina Puzriakova Added phenotypes Nonimmune hydrops fetalis for gene: PDCD2
Fetal anomalies v6.152 NOVA2 Arina Puzriakova Added phenotypes neurodevelopmental disorder with hypotonia, neurological features, and brain abnormalities for gene: NOVA2
Fetal anomalies v6.152 NOTCH3 Arina Puzriakova Added phenotypes Lateral meningocele syndrome, OMIM:130720 for gene: NOTCH3
Fetal anomalies v6.152 BNIP1 Arina Puzriakova Added phenotypes Spondyloepiphyseal dysplasia, Holling type, OMIM:621345 for gene: BNIP1
Fetal anomalies v6.152 PACSIN3 Arina Puzriakova Added phenotypes Congenital myopathy 27, OMIM:621343 for gene: PACSIN3
Fetal anomalies v6.152 SEPHS1 Arina Puzriakova Added phenotypes Ververi-Brady syndrome 2, OMIM:621325 for gene: SEPHS1
Fetal anomalies v6.152 ELFN1 Arina Puzriakova Added phenotypes Dursun-Ozgul neurodevelopmental syndrome, OMIM:621344 for gene: ELFN1
Fetal anomalies v6.152 LSM1 Arina Puzriakova Added phenotypes FICUS syndrome, OMIM:621193 for gene: LSM1
Fetal anomalies v6.152 LEF1 Arina Puzriakova Added phenotypes Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224 for gene: LEF1
Fetal anomalies v6.152 LDB3 Arina Puzriakova Added phenotypes Dilated cardiomyopathy for gene: LDB3
Fetal anomalies v6.152 IKZF2 Arina Puzriakova Added phenotypes Immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay, OMIM:621234 for gene: IKZF2
Fetal anomalies v6.152 GTF3C3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201 for gene: GTF3C3
Fetal anomalies v6.152 GNPNAT1 Arina Puzriakova Added phenotypes Talipes equinovarus for gene: GNPNAT1
Fetal anomalies v6.152 FGF4 Arina Puzriakova Added phenotypes Short-rib thoracic dysplasia 22 without polydactyly, OMIM:621260 for gene: FGF4
Fetal anomalies v6.152 FEM1B Arina Puzriakova Added phenotypes Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539 for gene: FEM1B
Fetal anomalies v6.152 DOT1L Arina Puzriakova Added phenotypes Nil-Deshwar neurodevelopmental syndrome, OMIM:621265 for gene: DOT1L
Fetal anomalies v6.152 CDX1 Arina Puzriakova Added phenotypes Anorectal malformations for gene: CDX1
Fetal anomalies v6.152 CDH11 Arina Puzriakova Added phenotypes Teebi hypertelorism syndrome 2, OMIM:619736 for gene: CDH11
Fetal anomalies v6.152 FBXO28 Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 100, OMIM:619777 for gene: FBXO28
Fetal anomalies v6.152 EMC10 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264 for gene: EMC10
Fetal anomalies v6.152 EIF4A2 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, OMIM:620455 for gene: EIF4A2
Fetal anomalies v6.152 EDN1 Arina Puzriakova Added phenotypes Auriculocondylar syndrome 3, OMIM:615706 for gene: EDN1
Fetal anomalies v6.152 DPH5 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070 for gene: DPH5
Fetal anomalies v6.152 DIP2C Arina Puzriakova Added phenotypes neurodevelopmental disorder, congenital heart defects for gene: DIP2C
Fetal anomalies v6.152 DHPS Arina Puzriakova Added phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment, OMIM:618480 for gene: DHPS
Fetal anomalies v6.152 DDX23 Arina Puzriakova Added phenotypes Syndromic neurodevelopmental disorder for gene: DDX23
Fetal anomalies v6.152 CDC42BPB Arina Puzriakova Added phenotypes Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841 for gene: CDC42BPB
Fetal anomalies v6.152 CDC42 Arina Puzriakova Added phenotypes Takenouchi-Kosaki syndrome, OMIM:616737 for gene: CDC42
Fetal anomalies v6.152 ADAMTS9 Arina Puzriakova Added phenotypes ciliopathy for gene: ADAMTS9
Fetal anomalies v6.152 YWHAE Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: YWHAE
Fetal anomalies v6.152 HNRNPH1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083 for gene: HNRNPH1
Fetal anomalies v6.152 HNRNPR Arina Puzriakova Added phenotypes Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073 for gene: HNRNPR
Fetal anomalies v6.152 CLCN3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 for gene: CLCN3
Fetal anomalies v6.152 ATP6V0A1 Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 104, OMIM:619970; Neurodevelopmental disorder with epilepsy and brain atrophy, OMIM:619971 for gene: ATP6V0A1
Fetal anomalies v6.152 SKOR2 Arina Puzriakova Added phenotypes Cerebellar hypoplasia, neurodevelopmental delay for gene: SKOR2
Fetal anomalies v6.152 AMOT Arina Puzriakova Added phenotypes Congenital hydrocephalus for gene: AMOT
Fetal anomalies v6.152 PRKCI Arina Puzriakova Added phenotypes Van der Woude syndrome for gene: PRKCI
Fetal anomalies v6.152 TRPM4 Arina Puzriakova Added phenotypes Progressive familial heart block, type IB, OMIM:604559 for gene: TRPM4
Fetal anomalies v6.152 HERC2 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal recessive 38, OMIM:615516 for gene: HERC2
Fetal anomalies v6.152 HACD1 Arina Puzriakova Added phenotypes Congenital myopathy 11, OMIM:619967 for gene: HACD1
Fetal anomalies v6.152 H3F3B Arina Puzriakova Added phenotypes Bryant-Li-Bhoj neurodevelopmental syndrome 2, OMIM:619721 for gene: H3F3B
Fetal anomalies v6.152 FIBP Arina Puzriakova Added phenotypes Thauvin-Robinet-Faivre syndrome, OMIM:617107 for gene: FIBP
Fetal anomalies v6.152 FBXW7 Arina Puzriakova Added phenotypes Developmental delay, hypotonia, and impaired language, OMIM:620012 for gene: FBXW7
Fetal anomalies v6.152 PMS2 Arina Puzriakova Added phenotypes Mismatch repair cancer syndrome 4, OMIM:619101 for gene: PMS2
Fetal anomalies v6.152 MSH6 Arina Puzriakova Added phenotypes Mismatch repair cancer syndrome 3, OMIM:619097 for gene: MSH6
Fetal anomalies v6.152 MSH2 Arina Puzriakova Added phenotypes Mismatch repair cancer syndrome 2, OMIM:619096 for gene: MSH2
Fetal anomalies v6.152 MLH1 Arina Puzriakova Added phenotypes Mismatch repair cancer syndrome 1, OMIM:276300 for gene: MLH1
Fetal anomalies v6.152 KCNJ8 Arina Puzriakova Added phenotypes Cantu syndrome for gene: KCNJ8
Fetal anomalies v6.152 MAST1 Arina Puzriakova Added phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:618273 for gene: MAST1
Fetal anomalies v6.152 MAPK8IP3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443 for gene: MAPK8IP3
Fetal anomalies v6.152 LRRC32 Arina Puzriakova Added phenotypes Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619047 for gene: LRRC32
Fetal anomalies v6.152 KIAA0556 Arina Puzriakova Added phenotypes Joubert syndrome 26, OMIM:616784 for gene: KIAA0556
Fetal anomalies v6.152 KCNQ5 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal dominant 46, OMIM:617601 for gene: KCNQ5
Fetal anomalies v6.152 INPP4A Arina Puzriakova Added phenotypes Neurodevelopmental disorder for gene: INPP4A
Fetal anomalies v6.152 IFT57 Arina Puzriakova Added phenotypes Bardet-Biedl Syndrome for gene: IFT57
Fetal anomalies v6.152 HEY2 Arina Puzriakova Added phenotypes Tetralogy of Fallot for gene: HEY2
Fetal anomalies v6.152 FOXI3 Arina Puzriakova Added phenotypes Craniofacial microsomia 2, OMIM:620444 for gene: FOXI3
Fetal anomalies v6.152 ENPP5 Arina Puzriakova Added phenotypes Skeletal dysplasia for gene: ENPP5
Fetal anomalies v6.152 EDA Arina Puzriakova Added phenotypes Hypohidrotic ectodermal dysplasia for gene: EDA
Fetal anomalies v6.152 DNAH14 Arina Puzriakova Added phenotypes Neurodevelopmental disorder for gene: DNAH14
Fetal anomalies v6.152 DDR1 Arina Puzriakova Added phenotypes Chondrodysplasia with multiple dislocations for gene: DDR1
Fetal anomalies v6.152 CPOX Arina Puzriakova Added phenotypes Harderoporphyria, OMIM:618892 for gene: CPOX
Fetal anomalies v6.151 ZNF865 Ida Ertmanska gene: ZNF865 was added
gene: ZNF865 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ZNF865 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF865 were set to 40936200
Phenotypes for gene: ZNF865 were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: ZNF865 was set to GREEN
Added comment: PMID: 40936200 Bradbrook et al., 2025 Report of 18 unrelated individuals (Caucasian / Latino ethnicity) with developmental delay and shared dysmorphic features, harbouring heterozygous variants in ZNF865. Method: WGS / WES. Majority described as severely delayed, with speech delay and moderate to severe learning difficulties; avg age of walking = 24 months, 9/18 patients presented with hypotonia, 1 patient diagnosed with epilepsy, 9/15 had digit anomalies. On MRI, 8/14 patients had brain abnormalities, including hypoplasia of corpus callosum and ventriculomegaly - may be detected prenatally?. Shared dysmorphic features: broad nasal bridge, hypertelorism, low-set ears. 14 unique variants (nonsense of frameshift) were detected, mostly towards the C-terminus. Variants were confirmed as de novo in 15 individuals.
This gene is not yet linked to any phenotype in OMIM (accessed 30th Dec 2025).
Sources: Literature
Fetal anomalies v6.150 SGCG Arina Puzriakova edited their review of gene: SGCG: Changed rating: RED
Fetal anomalies v6.150 ACVR2B Arina Puzriakova edited their review of gene: ACVR2B: Changed rating: RED
Fetal anomalies v6.150 ZPR1 Arina Puzriakova edited their review of gene: ZPR1: Changed rating: GREEN
Fetal anomalies v6.150 ZNF668 Arina Puzriakova edited their review of gene: ZNF668: Changed rating: GREEN
Fetal anomalies v6.150 ZBTB7A Arina Puzriakova edited their review of gene: ZBTB7A: Changed rating: GREEN
Fetal anomalies v6.150 YY1AP1 Arina Puzriakova edited their review of gene: YY1AP1: Changed rating: GREEN
Fetal anomalies v6.150 WNK3 Arina Puzriakova edited their review of gene: WNK3: Changed rating: GREEN
Fetal anomalies v6.150 VPS51 Arina Puzriakova edited their review of gene: VPS51: Changed rating: GREEN
Fetal anomalies v6.150 VPS50 Arina Puzriakova edited their review of gene: VPS50: Changed rating: GREEN
Fetal anomalies v6.150 VPS33A Arina Puzriakova edited their review of gene: VPS33A: Changed rating: GREEN
Fetal anomalies v6.150 UGGT1 Arina Puzriakova edited their review of gene: UGGT1: Changed rating: GREEN
Fetal anomalies v6.150 TTC26 Arina Puzriakova edited their review of gene: TTC26: Changed rating: GREEN
Fetal anomalies v6.150 TPRKB Arina Puzriakova edited their review of gene: TPRKB: Changed rating: GREEN
Fetal anomalies v6.150 TP53RK Arina Puzriakova edited their review of gene: TP53RK: Changed rating: GREEN
Fetal anomalies v6.150 TMEM251 Arina Puzriakova edited their review of gene: TMEM251: Changed rating: GREEN
Fetal anomalies v6.150 TMEM17 Arina Puzriakova edited their review of gene: TMEM17: Changed rating: GREEN
Fetal anomalies v6.150 TMEM167A Arina Puzriakova edited their review of gene: TMEM167A: Changed rating: GREEN
Fetal anomalies v6.150 THUMPD1 Arina Puzriakova edited their review of gene: THUMPD1: Changed rating: GREEN
Fetal anomalies v6.150 TASP1 Arina Puzriakova edited their review of gene: TASP1: Changed rating: GREEN
Fetal anomalies v6.150 SOX4 Arina Puzriakova edited their review of gene: SOX4: Changed rating: GREEN
Fetal anomalies v6.150 SMG8 Arina Puzriakova edited their review of gene: SMG8: Changed rating: GREEN
Fetal anomalies v6.150 SMC5 Arina Puzriakova edited their review of gene: SMC5: Changed rating: GREEN
Fetal anomalies v6.150 SMARCC2 Arina Puzriakova edited their review of gene: SMARCC2: Changed rating: GREEN
Fetal anomalies v6.150 SLF2 Arina Puzriakova edited their review of gene: SLF2: Changed rating: GREEN
Fetal anomalies v6.150 SLC5A6 Arina Puzriakova edited their review of gene: SLC5A6: Changed rating: GREEN
Fetal anomalies v6.150 SKOR2 Arina Puzriakova edited their review of gene: SKOR2: Changed rating: GREEN
Fetal anomalies v6.150 SIX2 Arina Puzriakova edited their review of gene: SIX2: Changed rating: GREEN
Fetal anomalies v6.150 SCNM1 Arina Puzriakova edited their review of gene: SCNM1: Changed rating: GREEN
Fetal anomalies v6.150 SATB1 Arina Puzriakova edited their review of gene: SATB1: Changed rating: GREEN
Fetal anomalies v6.150 SART3 Arina Puzriakova edited their review of gene: SART3: Changed rating: GREEN
Fetal anomalies v6.150 RSG1 Arina Puzriakova edited their review of gene: RSG1: Changed rating: GREEN
Fetal anomalies v6.150 RNU7-1 Arina Puzriakova edited their review of gene: RNU7-1: Changed rating: GREEN
Fetal anomalies v6.150 RHOBTB2 Arina Puzriakova edited their review of gene: RHOBTB2: Changed rating: GREEN
Fetal anomalies v6.150 RBBP5 Arina Puzriakova edited their review of gene: RBBP5: Changed rating: GREEN
Fetal anomalies v6.150 RALGAPA1 Arina Puzriakova edited their review of gene: RALGAPA1: Changed rating: GREEN
Fetal anomalies v6.150 RALA Arina Puzriakova edited their review of gene: RALA: Changed rating: GREEN
Fetal anomalies v6.150 PRKCI Arina Puzriakova edited their review of gene: PRKCI: Changed rating: GREEN
Fetal anomalies v6.150 PPP1R21 Arina Puzriakova edited their review of gene: PPP1R21: Changed rating: GREEN
Fetal anomalies v6.150 PLXNA1 Arina Puzriakova edited their review of gene: PLXNA1: Changed rating: GREEN
Fetal anomalies v6.150 PIGU Arina Puzriakova edited their review of gene: PIGU: Changed rating: GREEN
Fetal anomalies v6.150 PIGK Arina Puzriakova edited their review of gene: PIGK: Changed rating: GREEN
Fetal anomalies v6.150 PIGB Arina Puzriakova edited their review of gene: PIGB: Changed rating: GREEN
Fetal anomalies v6.150 PDIA6 Arina Puzriakova edited their review of gene: PDIA6: Changed rating: GREEN
Fetal anomalies v6.150 NUP133 Arina Puzriakova edited their review of gene: NUP133: Changed rating: GREEN
Fetal anomalies v6.150 NR6A1 Arina Puzriakova edited their review of gene: NR6A1: Changed rating: GREEN
Fetal anomalies v6.150 MYLPF Arina Puzriakova edited their review of gene: MYLPF: Changed rating: GREEN
Fetal anomalies v6.150 LSM1 Arina Puzriakova edited their review of gene: LSM1: Changed rating: GREEN
Fetal anomalies v6.150 LRRC32 Arina Puzriakova edited their review of gene: LRRC32: Changed rating: GREEN
Fetal anomalies v6.150 LMOD2 Arina Puzriakova edited their review of gene: LMOD2: Changed rating: GREEN
Fetal anomalies v6.150 LEF1 Arina Puzriakova edited their review of gene: LEF1: Changed rating: GREEN
Fetal anomalies v6.150 KDM4B Arina Puzriakova edited their review of gene: KDM4B: Changed rating: GREEN
Fetal anomalies v6.150 INPP4A Arina Puzriakova edited their review of gene: INPP4A: Changed rating: GREEN
Fetal anomalies v6.150 IL6ST Arina Puzriakova edited their review of gene: IL6ST: Changed rating: GREEN
Fetal anomalies v6.150 IFT57 Arina Puzriakova edited their review of gene: IFT57: Changed rating: GREEN
Fetal anomalies v6.150 HNRNPR Arina Puzriakova edited their review of gene: HNRNPR: Changed rating: GREEN
Fetal anomalies v6.150 HNRNPH1 Arina Puzriakova edited their review of gene: HNRNPH1: Changed rating: GREEN
Fetal anomalies v6.150 HERC2 Arina Puzriakova edited their review of gene: HERC2: Changed rating: GREEN
Fetal anomalies v6.150 H3F3B Arina Puzriakova edited their review of gene: H3F3B: Changed rating: GREEN
Fetal anomalies v6.150 GTF3C3 Arina Puzriakova edited their review of gene: GTF3C3: Changed rating: GREEN
Fetal anomalies v6.150 GON7 Arina Puzriakova edited their review of gene: GON7: Changed rating: GREEN
Fetal anomalies v6.150 GINS3 Arina Puzriakova edited their review of gene: GINS3: Changed rating: GREEN
Fetal anomalies v6.150 FGF4 Arina Puzriakova edited their review of gene: FGF4: Changed rating: GREEN
Fetal anomalies v6.150 FEM1B Arina Puzriakova edited their review of gene: FEM1B: Changed rating: GREEN
Fetal anomalies v6.150 FBXW7 Arina Puzriakova edited their review of gene: FBXW7: Changed rating: GREEN
Fetal anomalies v6.150 FBXO28 Arina Puzriakova edited their review of gene: FBXO28: Changed rating: GREEN
Fetal anomalies v6.150 EMC10 Arina Puzriakova edited their review of gene: EMC10: Changed rating: GREEN
Fetal anomalies v6.150 EIF4A2 Arina Puzriakova edited their review of gene: EIF4A2: Changed rating: GREEN
Fetal anomalies v6.150 DPH5 Arina Puzriakova edited their review of gene: DPH5: Changed rating: GREEN
Fetal anomalies v6.150 DOT1L Arina Puzriakova edited their review of gene: DOT1L: Changed rating: GREEN
Fetal anomalies v6.150 CSDE1 Arina Puzriakova edited their review of gene: CSDE1: Changed rating: GREEN
Fetal anomalies v6.150 CLCNKA Arina Puzriakova edited their review of gene: CLCNKA: Changed rating: GREEN
Fetal anomalies v6.150 CLCN3 Arina Puzriakova edited their review of gene: CLCN3: Changed rating: GREEN
Fetal anomalies v6.150 CEP76 Arina Puzriakova edited their review of gene: CEP76: Changed rating: GREEN
Fetal anomalies v6.150 CDC42BPB Arina Puzriakova edited their review of gene: CDC42BPB: Changed rating: GREEN
Fetal anomalies v6.150 CDC42 Arina Puzriakova edited their review of gene: CDC42: Changed rating: GREEN
Fetal anomalies v6.150 CCDC88A Arina Puzriakova edited their review of gene: CCDC88A: Changed rating: GREEN
Fetal anomalies v6.150 CCDC32 Arina Puzriakova edited their review of gene: CCDC32: Changed rating: GREEN
Fetal anomalies v6.150 CBFB Arina Puzriakova edited their review of gene: CBFB: Changed rating: GREEN
Fetal anomalies v6.150 CAMSAP1 Arina Puzriakova edited their review of gene: CAMSAP1: Changed rating: GREEN
Fetal anomalies v6.150 BRF2 Arina Puzriakova edited their review of gene: BRF2: Changed rating: GREEN
Fetal anomalies v6.150 BBIP1 Arina Puzriakova edited their review of gene: BBIP1: Changed rating: GREEN
Fetal anomalies v6.150 ARF3 Arina Puzriakova edited their review of gene: ARF3: Changed rating: GREEN
Fetal anomalies v6.150 ADAT3 Arina Puzriakova edited their review of gene: ADAT3: Changed rating: GREEN
Fetal anomalies v6.150 ABI2 Arina Puzriakova edited their review of gene: ABI2: Changed rating: GREEN
Fetal anomalies v6.150 YRDC Arina Puzriakova edited their review of gene: YRDC: Changed rating: GREEN
Fetal anomalies v6.150 WSB2 Arina Puzriakova edited their review of gene: WSB2: Changed rating: GREEN
Fetal anomalies v6.150 WDR91 Arina Puzriakova edited their review of gene: WDR91: Changed rating: GREEN
Fetal anomalies v6.150 TUBGCP2 Arina Puzriakova edited their review of gene: TUBGCP2: Changed rating: GREEN
Fetal anomalies v6.150 TRIO Arina Puzriakova edited their review of gene: TRIO: Changed rating: GREEN
Fetal anomalies v6.150 SHROOM4 Arina Puzriakova edited their review of gene: SHROOM4: Changed rating: GREEN
Fetal anomalies v6.150 SELENON Arina Puzriakova edited their review of gene: SELENON: Changed rating: GREEN
Fetal anomalies v6.150 PDCD2 Arina Puzriakova edited their review of gene: PDCD2: Changed rating: GREEN
Fetal anomalies v6.150 NOVA2 Arina Puzriakova edited their review of gene: NOVA2: Changed rating: GREEN
Fetal anomalies v6.150 MAST1 Arina Puzriakova edited their review of gene: MAST1: Changed rating: GREEN
Fetal anomalies v6.150 MAPK8IP3 Arina Puzriakova edited their review of gene: MAPK8IP3: Changed rating: GREEN
Fetal anomalies v6.150 KIAA0556 Arina Puzriakova edited their review of gene: KIAA0556: Changed rating: GREEN
Fetal anomalies v6.150 KCNJ8 Arina Puzriakova edited their review of gene: KCNJ8: Changed rating: GREEN
Fetal anomalies v6.150 HMGB1 Arina Puzriakova edited their review of gene: HMGB1: Changed rating: GREEN
Fetal anomalies v6.150 GPKOW Arina Puzriakova edited their review of gene: GPKOW: Changed rating: GREEN
Fetal anomalies v6.150 GATAD2B Arina Puzriakova edited their review of gene: GATAD2B: Changed rating: GREEN
Fetal anomalies v6.150 FOXI3 Arina Puzriakova edited their review of gene: FOXI3: Changed rating: GREEN
Fetal anomalies v6.150 CLCNKB Arina Puzriakova edited their review of gene: CLCNKB: Changed rating: GREEN
Fetal anomalies v6.150 CACHD1 Arina Puzriakova edited their review of gene: CACHD1: Changed rating: GREEN
Fetal anomalies v6.150 BRF1 Arina Puzriakova edited their review of gene: BRF1: Changed rating: GREEN
Fetal anomalies v6.150 B9D1 Arina Puzriakova edited their review of gene: B9D1: Changed rating: GREEN
Fetal anomalies v6.150 ASXL2 Arina Puzriakova edited their review of gene: ASXL2: Changed rating: GREEN
Fetal anomalies v6.150 ANKLE2 Arina Puzriakova edited their review of gene: ANKLE2: Changed rating: GREEN
Fetal anomalies v6.150 ACVR1 Arina Puzriakova edited their review of gene: ACVR1: Changed rating: GREEN
Fetal anomalies v6.149 SGCG Arina Puzriakova commented on gene: SGCG: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ACVR2B Arina Puzriakova commented on gene: ACVR2B: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ZPR1 Arina Puzriakova commented on gene: ZPR1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ZNF668 Arina Puzriakova commented on gene: ZNF668: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ZBTB7A Arina Puzriakova commented on gene: ZBTB7A: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 YY1AP1 Arina Puzriakova commented on gene: YY1AP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 WNK3 Arina Puzriakova commented on gene: WNK3: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 VPS51 Arina Puzriakova commented on gene: VPS51: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 VPS50 Arina Puzriakova commented on gene: VPS50: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 VPS33A Arina Puzriakova commented on gene: VPS33A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 UGGT1 Arina Puzriakova commented on gene: UGGT1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TTC26 Arina Puzriakova commented on gene: TTC26: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TPRKB Arina Puzriakova commented on gene: TPRKB: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TP53RK Arina Puzriakova commented on gene: TP53RK: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TMEM251 Arina Puzriakova commented on gene: TMEM251: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TMEM17 Arina Puzriakova commented on gene: TMEM17: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TMEM167A Arina Puzriakova commented on gene: TMEM167A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 THUMPD1 Arina Puzriakova commented on gene: THUMPD1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TASP1 Arina Puzriakova commented on gene: TASP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SOX4 Arina Puzriakova commented on gene: SOX4: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SMG8 Arina Puzriakova commented on gene: SMG8: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SMC5 Arina Puzriakova commented on gene: SMC5: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SMARCC2 Arina Puzriakova commented on gene: SMARCC2: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SLF2 Arina Puzriakova commented on gene: SLF2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SLC5A6 Arina Puzriakova commented on gene: SLC5A6: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SKOR2 Arina Puzriakova commented on gene: SKOR2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SIX2 Arina Puzriakova commented on gene: SIX2: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SCNM1 Arina Puzriakova commented on gene: SCNM1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SATB1 Arina Puzriakova commented on gene: SATB1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SART3 Arina Puzriakova commented on gene: SART3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RSG1 Arina Puzriakova commented on gene: RSG1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RNU7-1 Arina Puzriakova commented on gene: RNU7-1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RHOBTB2 Arina Puzriakova commented on gene: RHOBTB2: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RBBP5 Arina Puzriakova commented on gene: RBBP5: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RALGAPA1 Arina Puzriakova commented on gene: RALGAPA1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RALA Arina Puzriakova commented on gene: RALA: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PRKCI Arina Puzriakova commented on gene: PRKCI: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PRDM13 Arina Puzriakova commented on gene: PRDM13: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PPP1R21 Arina Puzriakova commented on gene: PPP1R21: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PLXNA1 Arina Puzriakova commented on gene: PLXNA1: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PIGU Arina Puzriakova commented on gene: PIGU: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PIGK Arina Puzriakova commented on gene: PIGK: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PIGB Arina Puzriakova commented on gene: PIGB: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PDIA6 Arina Puzriakova commented on gene: PDIA6: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 NUP133 Arina Puzriakova commented on gene: NUP133: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 NR6A1 Arina Puzriakova commented on gene: NR6A1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 MYLPF Arina Puzriakova commented on gene: MYLPF: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 LSM1 Arina Puzriakova commented on gene: LSM1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 LRRC32 Arina Puzriakova commented on gene: LRRC32: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 LMOD2 Arina Puzriakova commented on gene: LMOD2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 LEF1 Arina Puzriakova commented on gene: LEF1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 KDM4B Arina Puzriakova commented on gene: KDM4B: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 INPP4A Arina Puzriakova commented on gene: INPP4A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 IL6ST Arina Puzriakova commented on gene: IL6ST: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 IFT57 Arina Puzriakova commented on gene: IFT57: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 HNRNPR Arina Puzriakova commented on gene: HNRNPR: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 HNRNPH1 Arina Puzriakova commented on gene: HNRNPH1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 HERC2 Arina Puzriakova commented on gene: HERC2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 H3F3B Arina Puzriakova commented on gene: H3F3B: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GTF3C3 Arina Puzriakova commented on gene: GTF3C3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GON7 Arina Puzriakova commented on gene: GON7: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GINS3 Arina Puzriakova commented on gene: GINS3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FGF4 Arina Puzriakova commented on gene: FGF4: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FEM1B Arina Puzriakova commented on gene: FEM1B: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FBXW7 Arina Puzriakova commented on gene: FBXW7: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FBXO28 Arina Puzriakova commented on gene: FBXO28: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 EMC10 Arina Puzriakova commented on gene: EMC10: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 EIF4A2 Arina Puzriakova commented on gene: EIF4A2: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 DPH5 Arina Puzriakova commented on gene: DPH5: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 DOT1L Arina Puzriakova commented on gene: DOT1L: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 DHX37 Arina Puzriakova commented on gene: DHX37: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CSDE1 Arina Puzriakova commented on gene: CSDE1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CLCNKA Arina Puzriakova commented on gene: CLCNKA: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CLCN3 Arina Puzriakova commented on gene: CLCN3: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CEP76 Arina Puzriakova commented on gene: CEP76: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CDC42BPB Arina Puzriakova commented on gene: CDC42BPB: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CDC42 Arina Puzriakova commented on gene: CDC42: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CCDC88A Arina Puzriakova commented on gene: CCDC88A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CCDC32 Arina Puzriakova commented on gene: CCDC32: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CBFB Arina Puzriakova commented on gene: CBFB: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CAMSAP1 Arina Puzriakova commented on gene: CAMSAP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 BRF2 Arina Puzriakova commented on gene: BRF2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 BBIP1 Arina Puzriakova commented on gene: BBIP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ARF3 Arina Puzriakova commented on gene: ARF3: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ADAT3 Arina Puzriakova commented on gene: ADAT3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ABI2 Arina Puzriakova commented on gene: ABI2: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 YRDC Arina Puzriakova commented on gene: YRDC: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 WSB2 Arina Puzriakova commented on gene: WSB2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 WDR91 Arina Puzriakova commented on gene: WDR91: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TUBGCP2 Arina Puzriakova commented on gene: TUBGCP2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TRIO Arina Puzriakova commented on gene: TRIO: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SNAPIN Arina Puzriakova commented on gene: SNAPIN: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SHROOM4 Arina Puzriakova commented on gene: SHROOM4: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SELENON Arina Puzriakova commented on gene: SELENON: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PTBP1 Arina Puzriakova commented on gene: PTBP1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PPP1R12A Arina Puzriakova commented on gene: PPP1R12A: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PDCD2 Arina Puzriakova commented on gene: PDCD2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 NSD2 Arina Puzriakova commented on gene: NSD2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 NOVA2 Arina Puzriakova commented on gene: NOVA2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 MNS1 Arina Puzriakova commented on gene: MNS1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 MAST1 Arina Puzriakova commented on gene: MAST1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 MAPK8IP3 Arina Puzriakova commented on gene: MAPK8IP3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 KIAA0556 Arina Puzriakova commented on gene: KIAA0556: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 KCNJ8 Arina Puzriakova commented on gene: KCNJ8: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 HMGB1 Arina Puzriakova commented on gene: HMGB1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GPKOW Arina Puzriakova commented on gene: GPKOW: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GATAD2B Arina Puzriakova commented on gene: GATAD2B: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FOXI3 Arina Puzriakova commented on gene: FOXI3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 EXOSC9 Arina Puzriakova commented on gene: EXOSC9: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CLCNKB Arina Puzriakova commented on gene: CLCNKB: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CACHD1 Arina Puzriakova commented on gene: CACHD1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 BRF1 Arina Puzriakova commented on gene: BRF1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 B9D1 Arina Puzriakova commented on gene: B9D1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ASXL2 Arina Puzriakova commented on gene: ASXL2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ANKLE2 Arina Puzriakova commented on gene: ANKLE2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ACVR1 Arina Puzriakova commented on gene: ACVR1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.148 ZPR1 Arina Puzriakova commented on gene: ZPR1
Fetal anomalies v6.148 ZNF668 Arina Puzriakova commented on gene: ZNF668
Fetal anomalies v6.148 ZDHHC9 Arina Puzriakova commented on gene: ZDHHC9
Fetal anomalies v6.148 ZBTB7A Arina Puzriakova commented on gene: ZBTB7A
Fetal anomalies v6.148 YY1AP1 Arina Puzriakova commented on gene: YY1AP1
Fetal anomalies v6.148 YWHAE Arina Puzriakova commented on gene: YWHAE
Fetal anomalies v6.148 YRDC Arina Puzriakova commented on gene: YRDC
Fetal anomalies v6.148 WSB2 Arina Puzriakova commented on gene: WSB2
Fetal anomalies v6.148 WNK3 Arina Puzriakova commented on gene: WNK3
Fetal anomalies v6.148 WDR91 Arina Puzriakova commented on gene: WDR91: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 WDR11 Arina Puzriakova commented on gene: WDR11
Fetal anomalies v6.148 WASHC3 Arina Puzriakova commented on gene: WASHC3
Fetal anomalies v6.148 VPS51 Arina Puzriakova commented on gene: VPS51
Fetal anomalies v6.148 VPS50 Arina Puzriakova commented on gene: VPS50
Fetal anomalies v6.148 VPS33A Arina Puzriakova commented on gene: VPS33A
Fetal anomalies v6.148 UGGT1 Arina Puzriakova commented on gene: UGGT1
Fetal anomalies v6.148 TUBGCP2 Arina Puzriakova commented on gene: TUBGCP2
Fetal anomalies v6.148 TTC26 Arina Puzriakova commented on gene: TTC26
Fetal anomalies v6.148 TRPM4 Arina Puzriakova commented on gene: TRPM4
Fetal anomalies v6.148 TRIO Arina Puzriakova commented on gene: TRIO
Fetal anomalies v6.148 TPRKB Arina Puzriakova commented on gene: TPRKB
Fetal anomalies v6.148 TP53RK Arina Puzriakova commented on gene: TP53RK
Fetal anomalies v6.148 TMPRSS7 Arina Puzriakova commented on gene: TMPRSS7
Fetal anomalies v6.148 TMEM263 Arina Puzriakova commented on gene: TMEM263
Fetal anomalies v6.148 TMEM251 Arina Puzriakova commented on gene: TMEM251
Fetal anomalies v6.148 TMEM17 Arina Puzriakova commented on gene: TMEM17
Fetal anomalies v6.148 TMEM167A Arina Puzriakova commented on gene: TMEM167A
Fetal anomalies v6.148 THUMPD1 Arina Puzriakova commented on gene: THUMPD1
Fetal anomalies v6.148 TH Arina Puzriakova commented on gene: TH
Fetal anomalies v6.148 TEK Arina Puzriakova commented on gene: TEK
Fetal anomalies v6.148 TASP1 Arina Puzriakova commented on gene: TASP1
Fetal anomalies v6.148 TAF13 Arina Puzriakova commented on gene: TAF13
Fetal anomalies v6.148 SPTBN1 Arina Puzriakova commented on gene: SPTBN1
Fetal anomalies v6.148 SPOP Arina Puzriakova commented on gene: SPOP
Fetal anomalies v6.148 SOX4 Arina Puzriakova commented on gene: SOX4
Fetal anomalies v6.148 SNAPIN Arina Puzriakova commented on gene: SNAPIN: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 SMG8 Arina Puzriakova commented on gene: SMG8
Fetal anomalies v6.148 SMC5 Arina Puzriakova commented on gene: SMC5
Fetal anomalies v6.148 SMARCC2 Arina Puzriakova commented on gene: SMARCC2
Fetal anomalies v6.148 SMAD5 Arina Puzriakova commented on gene: SMAD5
Fetal anomalies v6.148 SLF2 Arina Puzriakova commented on gene: SLF2
Fetal anomalies v6.148 SLC9A6 Arina Puzriakova commented on gene: SLC9A6
Fetal anomalies v6.148 SLC5A6 Arina Puzriakova commented on gene: SLC5A6
Fetal anomalies v6.148 SLC13A1 Arina Puzriakova commented on gene: SLC13A1
Fetal anomalies v6.148 SKOR2 Arina Puzriakova commented on gene: SKOR2
Fetal anomalies v6.148 SIX2 Arina Puzriakova commented on gene: SIX2
Fetal anomalies v6.148 SIX1 Arina Puzriakova commented on gene: SIX1
Fetal anomalies v6.148 SHROOM4 Arina Puzriakova commented on gene: SHROOM4: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 SGCG Arina Puzriakova commented on gene: SGCG: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 SGCD Arina Puzriakova commented on gene: SGCD
Fetal anomalies v6.148 SGCB Arina Puzriakova commented on gene: SGCB
Fetal anomalies v6.148 SGCA Arina Puzriakova commented on gene: SGCA
Fetal anomalies v6.148 SF1 Arina Puzriakova commented on gene: SF1
Fetal anomalies v6.148 SEPHS1 Arina Puzriakova commented on gene: SEPHS1
Fetal anomalies v6.148 SELENON Arina Puzriakova commented on gene: SELENON
Fetal anomalies v6.148 SCNM1 Arina Puzriakova commented on gene: SCNM1
Fetal anomalies v6.148 SATB1 Arina Puzriakova commented on gene: SATB1
Fetal anomalies v6.148 SART3 Arina Puzriakova commented on gene: SART3
Fetal anomalies v6.148 RSG1 Arina Puzriakova commented on gene: RSG1
Fetal anomalies v6.148 RREB1 Arina Puzriakova commented on gene: RREB1
Fetal anomalies v6.148 ROBO4 Arina Puzriakova commented on gene: ROBO4
Fetal anomalies v6.148 RNU7-1 Arina Puzriakova commented on gene: RNU7-1
Fetal anomalies v6.148 RNU5A-1 Arina Puzriakova commented on gene: RNU5A-1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 RNU2-2P Arina Puzriakova commented on gene: RNU2-2P
Fetal anomalies v6.148 RNPC3 Arina Puzriakova commented on gene: RNPC3
Fetal anomalies v6.148 RNF13 Arina Puzriakova commented on gene: RNF13
Fetal anomalies v6.148 RHOBTB2 Arina Puzriakova commented on gene: RHOBTB2
Fetal anomalies v6.148 RBBP5 Arina Puzriakova commented on gene: RBBP5
Fetal anomalies v6.148 RASA2 Arina Puzriakova commented on gene: RASA2
Fetal anomalies v6.148 RALGAPA1 Arina Puzriakova commented on gene: RALGAPA1
Fetal anomalies v6.148 RALA Arina Puzriakova commented on gene: RALA
Fetal anomalies v6.148 RAD51C Arina Puzriakova commented on gene: RAD51C
Fetal anomalies v6.148 RAB35 Arina Puzriakova commented on gene: RAB35
Fetal anomalies v6.148 PURA Arina Puzriakova commented on gene: PURA: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PTBP1 Arina Puzriakova commented on gene: PTBP1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PRKCI Arina Puzriakova commented on gene: PRKCI
Fetal anomalies v6.148 PRDM13 Arina Puzriakova commented on gene: PRDM13: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PPP1R21 Arina Puzriakova commented on gene: PPP1R21
Fetal anomalies v6.148 PPP1R13L Arina Puzriakova commented on gene: PPP1R13L
Fetal anomalies v6.148 PPP1R12A Arina Puzriakova commented on gene: PPP1R12A: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 POLA1 Arina Puzriakova commented on gene: POLA1
Fetal anomalies v6.148 PMS2 Arina Puzriakova commented on gene: PMS2
Fetal anomalies v6.148 PLXNB3 Arina Puzriakova commented on gene: PLXNB3: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PLXNB2 Arina Puzriakova commented on gene: PLXNB2
Fetal anomalies v6.148 PLXNA1 Arina Puzriakova commented on gene: PLXNA1
Fetal anomalies v6.148 PLOD3 Arina Puzriakova commented on gene: PLOD3: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PIGU Arina Puzriakova commented on gene: PIGU
Fetal anomalies v6.148 PIGK Arina Puzriakova commented on gene: PIGK
Fetal anomalies v6.148 PIGB Arina Puzriakova commented on gene: PIGB
Fetal anomalies v6.148 PDIA6 Arina Puzriakova commented on gene: PDIA6
Fetal anomalies v6.148 PDCD6IP Arina Puzriakova commented on gene: PDCD6IP
Fetal anomalies v6.148 PDCD2 Arina Puzriakova commented on gene: PDCD2: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PCLO Arina Puzriakova commented on gene: PCLO: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PATJ Arina Puzriakova commented on gene: PATJ: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PACSIN3 Arina Puzriakova commented on gene: PACSIN3
Fetal anomalies v6.148 NUP133 Arina Puzriakova commented on gene: NUP133
Fetal anomalies v6.148 NUDCD2 Arina Puzriakova commented on gene: NUDCD2
Fetal anomalies v6.148 NSD2 Arina Puzriakova commented on gene: NSD2: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 NR6A1 Arina Puzriakova commented on gene: NR6A1
Fetal anomalies v6.148 NOVA2 Arina Puzriakova commented on gene: NOVA2
Fetal anomalies v6.148 NOTCH3 Arina Puzriakova commented on gene: NOTCH3
Fetal anomalies v6.148 MYLPF Arina Puzriakova commented on gene: MYLPF
Fetal anomalies v6.148 MSH6 Arina Puzriakova commented on gene: MSH6
Fetal anomalies v6.148 MSH2 Arina Puzriakova commented on gene: MSH2
Fetal anomalies v6.148 MNS1 Arina Puzriakova commented on gene: MNS1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 MMP9 Arina Puzriakova commented on gene: MMP9
Fetal anomalies v6.148 MLH1 Arina Puzriakova commented on gene: MLH1
Fetal anomalies v6.148 MAST1 Arina Puzriakova commented on gene: MAST1
Fetal anomalies v6.148 MAPK8IP3 Arina Puzriakova commented on gene: MAPK8IP3
Fetal anomalies v6.148 LSM1 Arina Puzriakova commented on gene: LSM1
Fetal anomalies v6.148 LRRC32 Arina Puzriakova commented on gene: LRRC32
Fetal anomalies v6.148 LMOD2 Arina Puzriakova commented on gene: LMOD2
Fetal anomalies v6.148 LINC01578 Arina Puzriakova commented on gene: LINC01578: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 LHX2 Arina Puzriakova commented on gene: LHX2
Fetal anomalies v6.148 LEF1 Arina Puzriakova commented on gene: LEF1
Fetal anomalies v6.148 LDB3 Arina Puzriakova commented on gene: LDB3
Fetal anomalies v6.148 KIAA0556 Arina Puzriakova commented on gene: KIAA0556: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 KDM4B Arina Puzriakova commented on gene: KDM4B
Fetal anomalies v6.148 KCNQ5 Arina Puzriakova commented on gene: KCNQ5
Fetal anomalies v6.148 KCNN4 Arina Puzriakova commented on gene: KCNN4
Fetal anomalies v6.148 KCNJ8 Arina Puzriakova commented on gene: KCNJ8
Fetal anomalies v6.148 INPP4A Arina Puzriakova commented on gene: INPP4A
Fetal anomalies v6.148 IL6ST Arina Puzriakova commented on gene: IL6ST
Fetal anomalies v6.148 IKZF2 Arina Puzriakova commented on gene: IKZF2
Fetal anomalies v6.148 IFT57 Arina Puzriakova commented on gene: IFT57
Fetal anomalies v6.148 HNRNPR Arina Puzriakova commented on gene: HNRNPR
Fetal anomalies v6.148 HNRNPH1 Arina Puzriakova commented on gene: HNRNPH1
Fetal anomalies v6.148 HMGB1 Arina Puzriakova commented on gene: HMGB1
Fetal anomalies v6.148 HEY2 Arina Puzriakova commented on gene: HEY2
Fetal anomalies v6.148 HERC2 Arina Puzriakova commented on gene: HERC2
Fetal anomalies v6.148 HDAC2 Arina Puzriakova commented on gene: HDAC2
Fetal anomalies v6.148 HACD1 Arina Puzriakova commented on gene: HACD1
Fetal anomalies v6.148 H3F3B Arina Puzriakova commented on gene: H3F3B
Fetal anomalies v6.148 GTF3C3 Arina Puzriakova commented on gene: GTF3C3
Fetal anomalies v6.148 GPKOW Arina Puzriakova commented on gene: GPKOW
Fetal anomalies v6.148 GON7 Arina Puzriakova commented on gene: GON7
Fetal anomalies v6.148 GNPNAT1 Arina Puzriakova commented on gene: GNPNAT1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 GINS3 Arina Puzriakova commented on gene: GINS3
Fetal anomalies v6.148 GATAD2B Arina Puzriakova commented on gene: GATAD2B
Fetal anomalies v6.148 FOXI3 Arina Puzriakova commented on gene: FOXI3
Fetal anomalies v6.148 FIBP Arina Puzriakova commented on gene: FIBP
Fetal anomalies v6.148 FGF4 Arina Puzriakova commented on gene: FGF4
Fetal anomalies v6.148 FEM1B Arina Puzriakova commented on gene: FEM1B
Fetal anomalies v6.148 FBXW7 Arina Puzriakova commented on gene: FBXW7
Fetal anomalies v6.148 FBXO28 Arina Puzriakova commented on gene: FBXO28
Fetal anomalies v6.148 FBXO11 Arina Puzriakova commented on gene: FBXO11: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 EXOSC9 Arina Puzriakova commented on gene: EXOSC9: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 EXOSC1 Arina Puzriakova commented on gene: EXOSC1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 ETV2 Arina Puzriakova commented on gene: ETV2
Fetal anomalies v6.148 ENPP5 Arina Puzriakova commented on gene: ENPP5
Fetal anomalies v6.148 EMC10 Arina Puzriakova commented on gene: EMC10
Fetal anomalies v6.148 ELFN1 Arina Puzriakova commented on gene: ELFN1
Fetal anomalies v6.148 EIF4A2 Arina Puzriakova commented on gene: EIF4A2
Fetal anomalies v6.148 EDN1 Arina Puzriakova commented on gene: EDN1
Fetal anomalies v6.148 EDA Arina Puzriakova commented on gene: EDA: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 DPH5 Arina Puzriakova commented on gene: DPH5
Fetal anomalies v6.148 DOT1L Arina Puzriakova commented on gene: DOT1L
Fetal anomalies v6.148 DNAH14 Arina Puzriakova commented on gene: DNAH14
Fetal anomalies v6.148 DLG3 Arina Puzriakova commented on gene: DLG3
Fetal anomalies v6.148 DIP2C Arina Puzriakova commented on gene: DIP2C
Fetal anomalies v6.148 DHX37 Arina Puzriakova commented on gene: DHX37: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 DHRS3 Arina Puzriakova commented on gene: DHRS3
Fetal anomalies v6.148 DHPS Arina Puzriakova commented on gene: DHPS
Fetal anomalies v6.148 DDX23 Arina Puzriakova commented on gene: DDX23
Fetal anomalies v6.148 DDR1 Arina Puzriakova commented on gene: DDR1
Fetal anomalies v6.148 CSDE1 Arina Puzriakova commented on gene: CSDE1
Fetal anomalies v6.148 CRELD1 Arina Puzriakova commented on gene: CRELD1
Fetal anomalies v6.148 CPOX Arina Puzriakova commented on gene: CPOX
Fetal anomalies v6.148 CLCNKB Arina Puzriakova commented on gene: CLCNKB
Fetal anomalies v6.148 CLCNKA Arina Puzriakova commented on gene: CLCNKA
Fetal anomalies v6.148 CLCN3 Arina Puzriakova commented on gene: CLCN3
Fetal anomalies v6.148 CHD8 Arina Puzriakova commented on gene: CHD8
Fetal anomalies v6.148 CEP76 Arina Puzriakova commented on gene: CEP76
Fetal anomalies v6.148 CEP162 Arina Puzriakova commented on gene: CEP162
Fetal anomalies v6.148 CDX1 Arina Puzriakova commented on gene: CDX1
Fetal anomalies v6.148 CDH11 Arina Puzriakova commented on gene: CDH11: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 CDC42BPB Arina Puzriakova commented on gene: CDC42BPB
Fetal anomalies v6.148 CDC42 Arina Puzriakova commented on gene: CDC42
Fetal anomalies v6.148 CDC40 Arina Puzriakova commented on gene: CDC40: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 CCT8 Arina Puzriakova commented on gene: CCT8: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 CCP110 Arina Puzriakova commented on gene: CCP110: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 CCM2L Arina Puzriakova commented on gene: CCM2L
Fetal anomalies v6.148 CCDC88A Arina Puzriakova commented on gene: CCDC88A
Fetal anomalies v6.148 CCDC32 Arina Puzriakova commented on gene: CCDC32
Fetal anomalies v6.148 CBFB Arina Puzriakova commented on gene: CBFB
Fetal anomalies v6.148 CAMSAP1 Arina Puzriakova commented on gene: CAMSAP1
Fetal anomalies v6.148 CACHD1 Arina Puzriakova commented on gene: CACHD1
Fetal anomalies v6.148 BUB1 Arina Puzriakova commented on gene: BUB1
Fetal anomalies v6.148 BRWD3 Arina Puzriakova commented on gene: BRWD3
Fetal anomalies v6.148 BRF2 Arina Puzriakova commented on gene: BRF2
Fetal anomalies v6.148 BRF1 Arina Puzriakova commented on gene: BRF1
Fetal anomalies v6.148 BNIP1 Arina Puzriakova commented on gene: BNIP1
Fetal anomalies v6.148 BBIP1 Arina Puzriakova commented on gene: BBIP1
Fetal anomalies v6.148 BAZ2B Arina Puzriakova commented on gene: BAZ2B
Fetal anomalies v6.148 B9D1 Arina Puzriakova commented on gene: B9D1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 ATP6V0A1 Arina Puzriakova commented on gene: ATP6V0A1
Fetal anomalies v6.148 ASXL2 Arina Puzriakova commented on gene: ASXL2
Fetal anomalies v6.148 ARHGEF40 Arina Puzriakova commented on gene: ARHGEF40
Fetal anomalies v6.148 ARHGEF17 Arina Puzriakova commented on gene: ARHGEF17: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 ARF3 Arina Puzriakova commented on gene: ARF3
Fetal anomalies v6.148 ARAF Arina Puzriakova commented on gene: ARAF
Fetal anomalies v6.148 ANKRD17 Arina Puzriakova commented on gene: ANKRD17
Fetal anomalies v6.148 ANKLE2 Arina Puzriakova commented on gene: ANKLE2
Fetal anomalies v6.148 AMOT Arina Puzriakova commented on gene: AMOT
Fetal anomalies v6.148 ALKBH8 Arina Puzriakova commented on gene: ALKBH8
Fetal anomalies v6.148 AIMP2 Arina Puzriakova commented on gene: AIMP2
Fetal anomalies v6.148 AIMP1 Arina Puzriakova commented on gene: AIMP1
Fetal anomalies v6.148 ADAT3 Arina Puzriakova commented on gene: ADAT3
Fetal anomalies v6.148 ADAMTS9 Arina Puzriakova commented on gene: ADAMTS9
Fetal anomalies v6.148 ADAMTS13 Arina Puzriakova commented on gene: ADAMTS13
Fetal anomalies v6.148 ACVR2B Arina Puzriakova commented on gene: ACVR2B
Fetal anomalies v6.148 ACVR1 Arina Puzriakova commented on gene: ACVR1
Fetal anomalies v6.148 ABI2 Arina Puzriakova commented on gene: ABI2
Fetal anomalies v6.147 ZPR1 Soo-Mi Park reviewed gene: ZPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29851065, 40776660; Phenotypes: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ZNF668 Soo-Mi Park reviewed gene: ZNF668: Rating: GREEN; Mode of pathogenicity: ; Publications: 34313816; Phenotypes: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ZDHHC9 Vicki Harrison reviewed gene: ZDHHC9: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Raymond type, OMIM:300799; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 ZBTB7A Soo-Mi Park reviewed gene: ZBTB7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 34515416; Phenotypes: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 YY1AP1 Soo-Mi Park reviewed gene: YY1AP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27939641, 31270375, 37698238, 31633303, 30556293, 37323195; Phenotypes: Grange syndrome, OMIM:602531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 YWHAE Elizabeth Scotchman reviewed gene: YWHAE: Rating: AMBER; Mode of pathogenicity: ; Publications: 29458882, 36433683, 36999555, 28542865; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 YRDC Natalie Canham reviewed gene: YRDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 34545459, 31481669; Phenotypes: Galloway-Mowat syndrome 10, OMIM:619609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 WSB2 Natalie Chandler reviewed gene: WSB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40374945; Phenotypes: neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 WNK3 Soo-Mi Park reviewed gene: WNK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35678782; Phenotypes: Prieto syndrome, OMIM:309610; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 WDR91 Natalie Chandler reviewed gene: WDR91: Rating: GREEN; Mode of pathogenicity: ; Publications: 40550703; Phenotypes: microcephaly, dysmorphic features, organomegaly, psychomotor delay, hypotonia, sensorineural hearing impairment, visual impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 WDR11 Tessa Homfray reviewed gene: WDR11: Rating: AMBER; Mode of pathogenicity: ; Publications: 34413497; Phenotypes: Intellectual developmental disorder, autosomal recessive 78, OMIM:620237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 WASHC3 Tessa Homfray reviewed gene: WASHC3: Rating: RED; Mode of pathogenicity: ; Publications: 40129681; Phenotypes: short stature, distinctive facies, and neurodevelopmental abnormalities; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 VPS51 Tessa Homfray reviewed gene: VPS51: Rating: GREEN; Mode of pathogenicity: ; Publications: 31207318, 30624672, 40565173, 40176246; Phenotypes: Pontocerebellar hypoplasia, type 13, OMIM:618606; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 VPS50 Tessa Homfray reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: ; Publications: 38876772, 34037727; Phenotypes: neurodevelopmental disorder with microcephaly, seizures and neonatal cholestasis, OMIM:619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 VPS33A Tessa Homfray reviewed gene: VPS33A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37628632, 36232726, 28013294; Phenotypes: Mucopolysaccharidosis-plus syndrome, OMIM:617303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 UGGT1 Tessa Homfray reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40267907; Phenotypes: Congenital disorder of glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TUBGCP2 Tessa Homfray reviewed gene: TUBGCP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40017707, 40448381, 33458610, 31630790; Phenotypes: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TTC26 Natalie Chandler reviewed gene: TTC26: Rating: GREEN; Mode of pathogenicity: ; Publications: 32617964, 24596149, 22718903, 31595528, 34177428; Phenotypes: Biliary, renal, neurologic, and skeletal syndrome, OMIM:619534; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TRPM4 Anna de Burca reviewed gene: TRPM4: Rating: RED; Mode of pathogenicity: ; Publications: 40896669; Phenotypes: Progressive familial heart block, type IB, OMIM:604559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 TRIO Vicki Harrison reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: ; Publications: 40905141; Phenotypes: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, OMIM:618825, Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 TPRKB Natalie Canham reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: ; Publications: 28805828, 38628357; Phenotypes: Galloway-Mowat syndrome 5, OMIM:617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TP53RK Natalie Canham reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: ; Publications: 30053862, 28805828, 38628357, 36116039, 36873107; Phenotypes: Galloway-Mowat syndrome 4, OMIM:617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMPRSS7 Soo-Mi Park reviewed gene: TMPRSS7: Rating: AMBER; Mode of pathogenicity: ; Publications: 40796295; Phenotypes: neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMEM263 Samantha Doyle reviewed gene: TMEM263: Rating: AMBER; Mode of pathogenicity: ; Publications: 29930570, 34238371, 38241182; Phenotypes: skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMEM251 Samantha Doyle reviewed gene: TMEM251: Rating: GREEN; Mode of pathogenicity: ; Publications: 40171858, 33252156; Phenotypes: Dysostosis multiplex, Ain-Naz type, OMIM:619345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMEM17 Natalie Chandler reviewed gene: TMEM17: Rating: GREEN; Mode of pathogenicity: ; Publications: 40841990; Phenotypes: Ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMEM167A Natalie Chandler reviewed gene: TMEM167A: Rating: GREEN; Mode of pathogenicity: ; Publications: 40924476; Phenotypes: Microcephaly, epilepsy and diabetes syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 THUMPD1 Natalie Canham reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35196516; Phenotypes: Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TH Natalie Canham reviewed gene: TH: Rating: RED; Mode of pathogenicity: ; Publications: 40967340; Phenotypes: Segawa syndrome, recessive, OMIM:605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TEK Sarah Graham reviewed gene: TEK: Rating: AMBER; Mode of pathogenicity: ; Publications: 29555671, 19888299; Phenotypes: Venous malformations, multiple cutaneous and mucosal, OMIM:600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 TASP1 Natalie Canham reviewed gene: TASP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31350873, 35512351, 37474017, 31209944, 29633245; Phenotypes: Suleiman-El-Hattab syndrome, OMIM:618950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TAF13 Vicki Harrison reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: ; Publications: 28257693, 40679298; Phenotypes: Intellectual developmental disorder, autosomal recessive 60, OMIM:617432; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SPTBN1 Vicki Harrison reviewed gene: SPTBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40869952; Phenotypes: Developmental delay, impaired speech, and behavioral abnormalities, OMIM:619475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SPOP Natalie Canham reviewed gene: SPOP: Rating: AMBER; Mode of pathogenicity: ; Publications: 36063898, 40304391, 32109420, 39918173, 36259278; Phenotypes: Nabais Sa-de Vries syndrome, type 1, OMIM:618828, Nabais Sa-de Vries syndrome, type 2, OMIM:618829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SOX4 Natalie Canham reviewed gene: SOX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 35232796, 36834931, 34750527, 38684576, 30661772; Phenotypes: Intellectual developmental disorder with speech delay and dysmorphic facies, OMIM:618506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SNAPIN Arina Puzriakova reviewed gene: SNAPIN: Rating: GREEN; Mode of pathogenicity: ; Publications: 40930097, 26539891; Phenotypes: neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SMG8 Samantha Doyle reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 33242396, 34761517, 37194129; Phenotypes: Alzahrani-Kuwahara syndrome, OMIM:619268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SMC5 Samantha Doyle reviewed gene: SMC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 36333305; Phenotypes: Atelis syndrome 2, OMIM:620185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SMARCC2 Samantha Doyle reviewed gene: SMARCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35796094, 35241061, 39901255, 37551667, 38117302, 40697538; Phenotypes: Coffin-Siris syndrome 8, OMIM:618362; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SMAD5 Natalie Chandler reviewed gene: SMAD5: Rating: AMBER; Mode of pathogenicity: ; Publications: 40619738; Phenotypes: congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SLF2 Samantha Doyle reviewed gene: SLF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36333305; Phenotypes: Atelis syndrome 1, OMIM:620184; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SLC9A6 Vicki Harrison reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: ; Publications: 40905141; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Christianson type, OMIM:300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 SLC5A6 Samantha Doyle reviewed gene: SLC5A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 40272030; Phenotypes: Sodium-dependent multivitamin transporter deficiency, OMIM:618973; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SLC13A1 Samantha Doyle reviewed gene: SLC13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39925707; Phenotypes: short stature, scoliosis, and skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SKOR2 Anna de Burca reviewed gene: SKOR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40890458; Phenotypes: Cerebellar hypoplasia, neurodevelopmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SIX2 Samantha Doyle reviewed gene: SIX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27383657, 32506814, 29315086, 26581443; Phenotypes: frontonasal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SIX1 Samantha Doyle reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: ; Publications: 37795857; Phenotypes: Branchiootic syndrome 3, OMIM:608389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SHROOM4 Vicki Harrison reviewed gene: SHROOM4: Rating: GREEN; Mode of pathogenicity: ; Publications: 40905141, 36379543, 32565546; Phenotypes: congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 SGCG Vicki Harrison reviewed gene: SGCG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SGCD Vicki Harrison reviewed gene: SGCD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, OMIM:601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SGCB Vicki Harrison reviewed gene: SGCB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4, OMIM:604286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SGCA Vicki Harrison reviewed gene: SGCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SF1 Natalie Canham reviewed gene: SF1: Rating: RED; Mode of pathogenicity: ; Publications: 40987292; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SEPHS1 Beth Young reviewed gene: SEPHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38531365; Phenotypes: Ververi-Brady syndrome 2, OMIM:621325; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SELENON Samantha Doyle reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 40159620, 37739444, 32864802; Phenotypes: OMIM:602771, Congenital myopathy 3 with rigid spine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SCNM1 Natalie Chandler reviewed gene: SCNM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36084634; Phenotypes: Orofaciodigital syndrome XIX, OMIM:620107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SATB1 Samantha Doyle reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38790177, 33513338, 36120649; Phenotypes: Developmental delay with dysmorphic facies and dental anomalies, OMIM:619228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SART3 Samantha Doyle reviewed gene: SART3: Rating: GREEN; Mode of pathogenicity: ; Publications: 37296101; Phenotypes: Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY Gonadal dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RSG1 Natalie Chandler reviewed gene: RSG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40593758; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RREB1 Natalie Chandler reviewed gene: RREB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40418122; Phenotypes: Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ROBO4 Samantha Doyle reviewed gene: ROBO4: Rating: RED; Mode of pathogenicity: ; Publications: 36855159, 30455415; Phenotypes: Aortic valve disease 3, OMIM:618496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RNU7-1 Esther Kinning reviewed gene: RNU7-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39031459, 35320431, 39332260, 33230297, 39748568; Phenotypes: Aicardi-Goutieres syndrome 9 OMIM:619487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RNU5A-1 Esther Kinning reviewed gene: RNU5A-1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40379786; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RNU2-2P Soo-Mi Park reviewed gene: RNU2-2P: Rating: AMBER; Mode of pathogenicity: ; Publications: 40950445, 40909831, 40442284, 40210679; Phenotypes: neurodevelopmental disorder; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 RNPC3 Esther Kinning reviewed gene: RNPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 35792517, 32462814, 34906446, 33650182; Phenotypes: Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RNF13 Samantha Doyle reviewed gene: RNF13: Rating: AMBER; Mode of pathogenicity: ; Publications: 30595371, 37668308; Phenotypes: Developmental and epileptic encephalopathy 73, OMIM:618379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RHOBTB2 Soo-Mi Park reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40329844, 29768694, 39831600, 33504645, 37165955, 29276004, 37982109; Phenotypes: Developmental and epileptic encephalopathy 64, OMIM:618004; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.147 RBBP5 Soo-Mi Park reviewed gene: RBBP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 39036895; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RASA2 Esther Kinning reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 25049390; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RALGAPA1 Soo-Mi Park reviewed gene: RALGAPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32004447, 19733229; Phenotypes: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, OMIM:618797; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RALA Soo-Mi Park reviewed gene: RALA: Rating: GREEN; Mode of pathogenicity: ; Publications: 39918382, 30761613, 41123801, 30500825; Phenotypes: Hiatt-Neu-Cooper neurodevelopmental syndrome, OMIM:619311; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RAD51C Natalie Chandler edited their review of gene: RAD51C: Added comment: Amber on UK fanconi panel. Green review on radial dysplasia case (from Aus). Green on all relevant Aus panels including fetal. Two cases in literature. 3rd paper refers to case in 2nd paper. Should go green on fanconi panels first.; Changed publications to: 29278735, 20400963, 37031326
Fetal anomalies v6.147 RAB35 Natalie Chandler reviewed gene: RAB35: Rating: RED; Mode of pathogenicity: ; Publications: 38432637; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PURA Esther Kinning reviewed gene: PURA: Rating: AMBER; Mode of pathogenicity: ; Publications: 39521787, 40603987; Phenotypes: Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, OMIM:616158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PTBP1 Natalie Canham reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40965981; Phenotypes: neurodevelopmental disorder with skeletal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PRKCI Anna de Burca reviewed gene: PRKCI: Rating: GREEN; Mode of pathogenicity: ; Publications: 40902599; Phenotypes: Van der Woude syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PRDM13 Arina Puzriakova reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: ; Publications: 34730112, 35390279; Phenotypes: Pontocerebellar hypoplasia, type 17, OMIM:619909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PPP1R21 Soo-Mi Park reviewed gene: PPP1R21: Rating: GREEN; Mode of pathogenicity: ; Publications: 32985083, 36692708, 38356149, 30520571, 29808498; Phenotypes: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, OMIM:619383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PPP1R13L Tessa Homfray reviewed gene: PPP1R13L: Rating: AMBER; Mode of pathogenicity: ; Publications: 39579152, 37698259, 35924320; Phenotypes: Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PPP1R12A Arina Puzriakova reviewed gene: PPP1R12A: Rating: GREEN; Mode of pathogenicity: ; Publications: 39252126, 37272772, 39257322, 40770999; Phenotypes: Genitourinary and/or brain malformation syndrome, OMIM:618820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 POLA1 Tessa Homfray reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 34119699, 31006512, 36182037; Phenotypes: Van Esch-O'Driscoll syndrome, OMIM:301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 PMS2 Anna de Burca reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28562508, 32354708, 22692065, 30166433, 33247381, 24737826, 17993636, 38981890, 38912246; Phenotypes: Mismatch repair cancer syndrome 4, OMIM:619101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PLXNB3 Arina Puzriakova reviewed gene: PLXNB3: Rating: RED; Mode of pathogenicity: ; Publications: 36506778; Phenotypes: congenital heart disease with neurodevelopmental disabilities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PLXNB2 Vicki Harrison reviewed gene: PLXNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 38458752; Phenotypes: amelogenesis imperfecta, hearing loss and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PLXNA1 Vicki Harrison reviewed gene: PLXNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40905141, 34054129; Phenotypes: Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 PLOD3 Esther Kinning reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: 40289369; Phenotypes: BCARD syndrome (lysyl hydroxylase 3 deficiency) OMIM:612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PIGU Tessa Homfray reviewed gene: PIGU: Rating: GREEN; Mode of pathogenicity: ; Publications: 31353022; Phenotypes: Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PIGK Tessa Homfray reviewed gene: PIGK: Rating: GREEN; Mode of pathogenicity: ; Publications: 33392778, 32220290, 38902431; Phenotypes: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, OMIM:618879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PIGB Tessa Homfray reviewed gene: PIGB: Rating: GREEN; Mode of pathogenicity: ; Publications: 34161862, 40230662, 31256876; Phenotypes: Developmental and epileptic encephalopathy 80, OMIM:618580; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PDIA6 Natalie Canham reviewed gene: PDIA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 40974269, 33495992, 35856135; Phenotypes: Polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PDCD6IP Natalie Chandler reviewed gene: PDCD6IP: Rating: AMBER; Mode of pathogenicity: ; Publications: 32286682, 40897677; Phenotypes: Microcephaly 29, primary, autosomal recessive, OMIM:620047; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PDCD2 Esther Kinning reviewed gene: PDCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40208938; Phenotypes: Nonimmune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PCLO Arina Puzriakova reviewed gene: PCLO: Rating: AMBER; Mode of pathogenicity: ; Publications: 40661989, 25832664; Phenotypes: Pontocerebellar hypoplasia, type 3, OMIM:608027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PATJ Arina Puzriakova reviewed gene: PATJ: Rating: AMBER; Mode of pathogenicity: ; Publications: 40931526; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PACSIN3 Beth Young reviewed gene: PACSIN3: Rating: RED; Mode of pathogenicity: ; Publications: 38637313; Phenotypes: Congenital myopathy 27, OMIM:621343; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 NUP133 Natalie Canham reviewed gene: NUP133: Rating: GREEN; Mode of pathogenicity: ; Publications: 37041680, 30427554; Phenotypes: Galloway-Mowat syndrome 8, OMIM:618349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 NUDCD2 Esther Kinning reviewed gene: NUDCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 37272762; Phenotypes: multiple malformation syndrome with cholestasis and renal failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 NSD2 Arina Puzriakova reviewed gene: NSD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36189577, 33276791, 30345613, 31171569, 40690504, 37351323, 38353053, 33941880; Phenotypes: Rauch-Steindl syndrome OMIM:619695; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 NR6A1 Natalie Chandler reviewed gene: NR6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40610405; Phenotypes: Oculovertebral syndrome, OMIM:621277; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 NOVA2 Esther Kinning reviewed gene: NOVA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35607920, 32197073; Phenotypes: neurodevelopmental disorder with hypotonia, neurological features, and brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 NOTCH3 Esther Kinning reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: 40771185; Phenotypes: Lateral meningocele syndrome, OMIM:130720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 MYLPF Esther Kinning reviewed gene: MYLPF: Rating: GREEN; Mode of pathogenicity: ; Publications: 32707087; Phenotypes: Arthrogryposis, distal, type 1C, OMIM:617378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MSH6 Anna de Burca reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: ; Publications: 28562508, 32354708, 22692065, 30166433, 33247381, 24737826, 17993636, 38981890, 38912246; Phenotypes: Mismatch repair cancer syndrome 3, OMIM:619097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MSH2 Anna de Burca reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28562508, 32354708, 22692065, 30166433, 33247381, 24737826, 17993636, 38981890, 38912246; Phenotypes: Mismatch repair cancer syndrome 2, OMIM:619096; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MNS1 Arina Puzriakova reviewed gene: MNS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30148830, 38920647, 39233552, 31534215, 39513328; Phenotypes: Heterotaxy, visceral, 9, autosomal, with male infertility (Autosomal recessive); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MMP9 Natalie Chandler reviewed gene: MMP9: Rating: AMBER; Mode of pathogenicity: ; Publications: 34407464, 28342220, 36035187; Phenotypes: Metaphyseal anadysplasia 2, OMIM:613073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MLH1 Anna de Burca reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28562508, 32354708, 22692065, 30166433, 33247381, 24737826, 17993636, 38981890, 38912246, 39420201; Phenotypes: Mismatch repair cancer syndrome 1, OMIM:276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MAST1 Alice Gardham reviewed gene: MAST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38284444; Phenotypes: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:618273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 MAPK8IP3 Alice Gardham reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 40734308; Phenotypes: Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 LSM1 Beth Young reviewed gene: LSM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40204357, 36100156, 31010896; Phenotypes: FICUS syndrome, OMIM:621193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 LRRC32 Alice Gardham reviewed gene: LRRC32: Rating: GREEN; Mode of pathogenicity: ; Publications: 30976112, 40721351, 35656379; Phenotypes: Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619047; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 LMOD2 Esther Kinning reviewed gene: LMOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35188328, 34888509, 31517052, 35082396, 37296576; Phenotypes: Cardiomyopathy, dilated, 2G, OMIM:619897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 LINC01578 Natalie Chandler reviewed gene: LINC01578: Rating: AMBER; Mode of pathogenicity: ; Publications: 39442041; Phenotypes: Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, OMIM:621012; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 LHX2 Esther Kinning reviewed gene: LHX2: Rating: RED; Mode of pathogenicity: ; Publications: 37057675; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 LEF1 Beth Young reviewed gene: LEF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35583550, 32022899, 39107921; Phenotypes: Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 LDB3 Beth Young reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: 36253531; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 KIAA0556 Alice Gardham reviewed gene: KIAA0556: Rating: GREEN; Mode of pathogenicity: ; Publications: 26714646, 36580738, 40428346, 40725402, 27245168; Phenotypes: Joubert syndrome 26, OMIM:616784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 KDM4B Natalie Chandler reviewed gene: KDM4B: Rating: GREEN; Mode of pathogenicity: ; Publications: 38270710, 33232677; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, OMIM:619320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 KCNQ5 Alice Gardham reviewed gene: KCNQ5: Rating: RED; Mode of pathogenicity: ; Publications: 40620262; Phenotypes: Intellectual developmental disorder, autosomal dominant 46, OMIM:617601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.147 KCNN4 Natalie Chandler reviewed gene: KCNN4: Rating: AMBER; Mode of pathogenicity: ; Publications: 36031591; Phenotypes: Dehydrated hereditary stomatocytosis 2, OMIM:616689; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 KCNJ8 Anna de Burca reviewed gene: KCNJ8: Rating: GREEN; Mode of pathogenicity: ; Publications: 24700710, 24176758, 25275207; Phenotypes: Cantu syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 INPP4A Alice Gardham reviewed gene: INPP4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25338135, 31978615, 21937992, 31938306, 36653678, 39315527; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 IL6ST Soo-Mi Park reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: ; Publications: 40835206; Phenotypes: Stuve-Wiedemann syndrome 2, OMIM:619751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 IKZF2 Beth Young reviewed gene: IKZF2: Rating: AMBER; Mode of pathogenicity: ; Publications: 37316189; Phenotypes: Immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay, OMIM:621234; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 IFT57 Alice Gardham reviewed gene: IFT57: Rating: GREEN; Mode of pathogenicity: ; Publications: 40273360, 27060890; Phenotypes: Bardet-Biedl Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 HNRNPR Elizabeth Scotchman reviewed gene: HNRNPR: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079900, 33874999; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HNRNPH1 Elizabeth Scotchman reviewed gene: HNRNPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29938792, 33874999, 32335897; Phenotypes: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HMGB1 Esther Kinning reviewed gene: HMGB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36755093, 34164801, 39635340; Phenotypes: brachyphalangy, polydactyly and tibial aplasia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HEY2 Alice Gardham reviewed gene: HEY2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40481234; Phenotypes: Tetralogy of Fallot; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HERC2 Anna de Burca reviewed gene: HERC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23243086, 38884635, 23065719, 41059448; Phenotypes: Intellectual developmental disorder, autosomal recessive 38, OMIM:615516; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 HDAC2 Vicki Harrison reviewed gene: HDAC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141, 30806031, 38753158; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HACD1 Anna de Burca reviewed gene: HACD1: Rating: RED; Mode of pathogenicity: ; Publications: 23933735, 15829503, 32426512, 36823680, 33354762; Phenotypes: Congenital myopathy 11, OMIM:619967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 H3F3B Anna de Burca reviewed gene: H3F3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 34876591, 33268356, 39060653; Phenotypes: Bryant-Li-Bhoj neurodevelopmental syndrome 2, OMIM:619721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 GTF3C3 Beth Young reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39636576, 40040844; Phenotypes: Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 GPKOW Natalie Chandler reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: ; Publications: 28612833, 40221893; Phenotypes: Intrauterine growth restriction, microcephaly/microencephaly, and eye, brain, skin, and skeletal abnormalities; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v6.147 GON7 Natalie Canham reviewed gene: GON7: Rating: GREEN; Mode of pathogenicity: ; Publications: 31481669; Phenotypes: Galloway-Mowat syndrome 9, OMIM:619603; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 GNPNAT1 Beth Young reviewed gene: GNPNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39945447; Phenotypes: Talipes equinovarus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 GINS3 Natalie Chandler reviewed gene: GINS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38773883, 35603789; Phenotypes: Meier-Gorlin syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 GATAD2B Sarah Graham reviewed gene: GATAD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 39976362, 31949314, 40371175; Phenotypes: GAND syndrome, OMIM:615074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FOXI3 Alice Gardham reviewed gene: FOXI3: Rating: GREEN; Mode of pathogenicity: ; Publications: 36260083, 40032185, 40128339, 37041148, 40275486; Phenotypes: Craniofacial microsomia 2, OMIM:620444; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FIBP Anna de Burca reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: ; Publications: 37876348, 37218527, 27183861, 40536757, 26660953, 40099975; Phenotypes: Thauvin-Robinet-Faivre syndrome, OMIM:617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 FGF4 Beth Young reviewed gene: FGF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 40259859; Phenotypes: Short-rib thoracic dysplasia 22 without polydactyly, OMIM:621260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 FEM1B Beth Young reviewed gene: FEM1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 38465576; Phenotypes: Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FBXW7 Anna de Burca reviewed gene: FBXW7: Rating: GREEN; Mode of pathogenicity: ; Publications: 35395208, 39364007; Phenotypes: Developmental delay, hypotonia, and impaired language, OMIM:620012; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FBXO28 Elizabeth Scotchman reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: ; Publications: 37761828, 37543484, 30160831, 33280099; Phenotypes: Developmental and epileptic encephalopathy 100, OMIM:619777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FBXO11 Arina Puzriakova reviewed gene: FBXO11: Rating: RED; Mode of pathogenicity: ; Publications: 35726512, 38268232; Phenotypes: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 EXOSC9 Arina Puzriakova reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 33040083, 29727687, 30690203; Phenotypes: Pontocerebellar hypoplasia, type 1D, OMIM:618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 EXOSC1 Arina Puzriakova reviewed gene: EXOSC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 37024942, 33463720; Phenotypes: Pontocerebellar hypoplasia, type 1F, OMIM:619304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ETV2 Natalie Chandler reviewed gene: ETV2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33359164; Phenotypes: congenital heart defects, vertebral abnormalities and preaxial polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ENPP5 Alice Gardham reviewed gene: ENPP5: Rating: AMBER; Mode of pathogenicity: ; Publications: 40457511; Phenotypes: Skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 EMC10 Elizabeth Scotchman reviewed gene: EMC10: Rating: GREEN; Mode of pathogenicity: ; Publications: 32869858, 40150819, 35684946, 35124540, 33531666; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ELFN1 Beth Young reviewed gene: ELFN1: Rating: RED; Mode of pathogenicity: ; Publications: 40576023, 34509675, 34452636; Phenotypes: Dursun-Ozgul neurodevelopmental syndrome, OMIM:621344; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 EIF4A2 Elizabeth Scotchman reviewed gene: EIF4A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36528028; Phenotypes: Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, OMIM:620455; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.147 EDN1 Elizabeth Scotchman reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24268655, 35170830, 12244558; Phenotypes: Auriculocondylar syndrome 3, OMIM:615706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 EDA Alice Gardham reviewed gene: EDA: Rating: RED; Mode of pathogenicity: ; Publications: 40781288; Phenotypes: Hypohidrotic ectodermal dysplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 DPH5 Elizabeth Scotchman reviewed gene: DPH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 35482014, 40725455; Phenotypes: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DOT1L Beth Young reviewed gene: DOT1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 37827158, 41475673; Phenotypes: Nil-Deshwar neurodevelopmental syndrome, OMIM:621265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 DNAH14 Alice Gardham reviewed gene: DNAH14: Rating: RED; Mode of pathogenicity: ; Publications: 40721351, 35438214; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DLG3 Natalie Canham reviewed gene: DLG3: Rating: AMBER; Mode of pathogenicity: ; Publications: 40983642; Phenotypes: Intellectual developmental disorder, X-linked 90, OMIM:300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 DIP2C Elizabeth Scotchman reviewed gene: DIP2C: Rating: AMBER; Mode of pathogenicity: ; Publications: 40915331, 34617658, 38421105; Phenotypes: neurodevelopmental disorder, congenital heart defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 DHX37 Arina Puzriakova reviewed gene: DHX37: Rating: GREEN; Mode of pathogenicity: ; Publications: 40934457; Phenotypes: Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, OMIM:618731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DHRS3 Natalie Chandler reviewed gene: DHRS3: Rating: AMBER; Mode of pathogenicity: ; Publications: 40519748; Phenotypes: coronal craniosynostosis, dysmorphic facial features, congenital heart disease, scoliosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DHPS Elizabeth Scotchman reviewed gene: DHPS: Rating: AMBER; Mode of pathogenicity: ; Publications: 30661771; Phenotypes: Neurodevelopmental disorder with seizures and speech and walking impairment, OMIM:618480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DDX23 Elizabeth Scotchman reviewed gene: DDX23: Rating: AMBER; Mode of pathogenicity: ; Publications: 34050707; Phenotypes: Syndromic neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 DDR1 Alice Gardham reviewed gene: DDR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39714220; Phenotypes: Chondrodysplasia with multiple dislocations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CSDE1 Natalie Chandler reviewed gene: CSDE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31579823, 34519148; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CRELD1 Natalie Canham reviewed gene: CRELD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40870020, 37947183, 40980404; Phenotypes: Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CPOX Alice Gardham reviewed gene: CPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: 40769776; Phenotypes: Harderoporphyria, OMIM:618892; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CLCNKB Tessa Homfray reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 4b, digenic, OMIM:613090, Bartter syndrome, type 3, OMIM:607364; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CLCNKA Tessa Homfray reviewed gene: CLCNKA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 4b, digenic, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CLCN3 Elizabeth Scotchman reviewed gene: CLCN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 36536096, 34186028; Phenotypes: Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517, Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.147 CHD8 Vicki Harrison reviewed gene: CHD8: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141, 40848233; Phenotypes: Intellectual developmental disorder with autism and macrocephaly, OMIM:615032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CEP76 Natalie Chandler reviewed gene: CEP76: Rating: GREEN; Mode of pathogenicity: ; Publications: 41105778; Phenotypes: retinitis pigmentosa, Joubert syndrome, complex neurodevelopmental disorder MONDO:0100038, Bardet-Biedl syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CEP162 Natalie Chandler reviewed gene: CEP162: Rating: RED; Mode of pathogenicity: ; Publications: 36862503; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CDX1 Beth Young reviewed gene: CDX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23329892; Phenotypes: Anorectal malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CDH11 Beth Young reviewed gene: CDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: 33811546, 29271567; Phenotypes: Teebi hypertelorism syndrome 2, OMIM:619736; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 CDC42BPB Elizabeth Scotchman reviewed gene: CDC42BPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 32031333; Phenotypes: Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CDC42 Elizabeth Scotchman reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: ; Publications: 40371891, 33936654, 34624555, 29335451, 29394990, 26708094, 33672558, 26386261; Phenotypes: Takenouchi-Kosaki syndrome, OMIM:616737; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CDC40 Arina Puzriakova reviewed gene: CDC40: Rating: AMBER; Mode of pathogenicity: ; Publications: 33220177; Phenotypes: Pontocerebellar hypoplasia, type 15, OMIM:619302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CCT8 Stephanie Allen reviewed gene: CCT8: Rating: AMBER; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: Brain malformations, intellectual disability, and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CCP110 Arina Puzriakova reviewed gene: CCP110: Rating: AMBER; Mode of pathogenicity: ; Publications: 38857829; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CCM2L Stephanie Allen reviewed gene: CCM2L: Rating: RED; Mode of pathogenicity: ; Publications: 40521769; Phenotypes: Tetralogy of Fallot; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CCDC88A Stephanie Allen reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37798908, 39334473, 26917597, 39675783, 40401444, 30392057; Phenotypes: PEHO syndrome-like, OMIM:617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CCDC32 Natalie Chandler reviewed gene: CCDC32: Rating: GREEN; Mode of pathogenicity: ; Publications: 32307552; Phenotypes: Cardiofacioneurodevelopmental syndrome, OMIM:619123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CBFB Stephanie Allen reviewed gene: CBFB: Rating: GREEN; Mode of pathogenicity: ; Publications: 36241386, 39894570; Phenotypes: Cleidocranial dysplasia-2, OMIM:620099; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CAMSAP1 Natalie Chandler reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39724270, 36283405; Phenotypes: Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CACHD1 Sarah Graham reviewed gene: CACHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38158856; Phenotypes: Neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BUB1 Natalie Chandler reviewed gene: BUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 35044816; Phenotypes: Microcephaly 30, primary, autosomal recessive, OMIM:620183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BRWD3 Vicki Harrison reviewed gene: BRWD3: Rating: RED; Mode of pathogenicity: ; Publications: 40905141, 36414205; Phenotypes: Intellectual developmental disorder, X-linked 93, OMIM:300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 BRF2 Stephanie Allen reviewed gene: BRF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40781771, 40229899; Phenotypes: Syndromic immunodeficiency and developmental disorders; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BRF1 Stephanie Allen reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40657982; Phenotypes: Cerebellofaciodental syndrome, OMIM:616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BNIP1 Beth Young reviewed gene: BNIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 3,526,622,739,706,860; Phenotypes: Spondyloepiphyseal dysplasia, Holling type, OMIM:621345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BBIP1 Natalie Chandler reviewed gene: BBIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37239474, 24026985, 32055034; Phenotypes: Bardet-Biedl syndrome 18, MIM #615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BAZ2B Sarah Graham reviewed gene: BAZ2B: Rating: AMBER; Mode of pathogenicity: ; Publications: 31999386, 37872713; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 B9D1 Stephanie Allen reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40933483, 40565534; Phenotypes: Joubert syndrome 27, OMIM:617120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ATP6V0A1 Anna de Burca reviewed gene: ATP6V0A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141, 34909687, 33833240; Phenotypes: Developmental and epileptic encephalopathy 104, OMIM:619970, Neurodevelopmental disorder with epilepsy and brain atrophy, OMIM:619971; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 ASXL2 Soo-Mi Park reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33751773, 27693232, 35182806; Phenotypes: Shashi-Pena syndrome, OMIM:617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ARHGEF40 Sarah Graham reviewed gene: ARHGEF40: Rating: AMBER; Mode of pathogenicity: ; Publications: 39838643; Phenotypes: Congenital anomalies and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ARHGEF17 Arina Puzriakova reviewed gene: ARHGEF17: Rating: RED; Mode of pathogenicity: ; Publications: 36341116, 40721351; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ARF3 Natalie Chandler reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38712921, 36369169, 34346499; Phenotypes: Neurodevelopmental disorder, brain abnormality; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ARAF Stephanie Allen reviewed gene: ARAF: Rating: RED; Mode of pathogenicity: ; Publications: 31263281; Phenotypes: Lymphatic anomaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ANKRD17 Stephanie Allen reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: ; Publications: 40604385; Phenotypes: Chopra-Amiel-Gordon syndrome, OMIM:619504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ANKLE2 Natalie Chandler reviewed gene: ANKLE2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35871307, 31735666, 30214071, 40940024, 25259927; Phenotypes: Microcephaly 16, primary, autosomal recessive, OMIM:616681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 AMOT Anna de Burca reviewed gene: AMOT: Rating: AMBER; Mode of pathogenicity: ; Publications: 40892511; Phenotypes: Congenital hydrocephalus; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 ALKBH8 Stephanie Allen reviewed gene: ALKBH8: Rating: AMBER; Mode of pathogenicity: ; Publications: 40721351; Phenotypes: Intellectual developmental disorder, autosomal recessive 71, OMIM:618504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 AIMP2 Stephanie Allen reviewed gene: AIMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40721351; Phenotypes: Leukodystrophy, hypomyelinating, 17, OMIM:618006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 AIMP1 Stephanie Allen reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40603987; Phenotypes: Leukodystrophy, hypomyelinating, 3, OMIM:260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ADAT3 Stephanie Allen reviewed gene: ADAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 40579404; Phenotypes: Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ADAMTS9 Elizabeth Scotchman reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: ; Publications: 30609407, 34750010; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ADAMTS13 Stephanie Allen reviewed gene: ADAMTS13: Rating: RED; Mode of pathogenicity: ; Publications: 40760196; Phenotypes: Hereditary thrombotic thrombocytopenic purpura, OMIM:274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ACVR2B Natalie Chandler reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: ; Publications: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ACVR1 Soo-Mi Park reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40911705, 40874919, 26097044, 25346098; Phenotypes: Fibrodysplasia ossificans progressiva, OMIM:135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ABI2 Stephanie Allen reviewed gene: ABI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40475134; Phenotypes: Intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 LINC01578 Arina Puzriakova commented on gene: LINC01578
Fetal anomalies v6.146 LINC01578 Arina Puzriakova Tag new-gene-name tag was added to gene: LINC01578.
Fetal anomalies v6.146 YWHAE Arina Puzriakova gene: YWHAE was added
gene: YWHAE was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: YWHAE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 TRPM4 Arina Puzriakova gene: TRPM4 was added
gene: TRPM4 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 SPTBN1 Arina Puzriakova gene: SPTBN1 was added
gene: SPTBN1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SPTBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 SPOP Arina Puzriakova gene: SPOP was added
gene: SPOP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 SLC13A1 Arina Puzriakova gene: SLC13A1 was added
gene: SLC13A1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 SGCD Arina Puzriakova gene: SGCD was added
gene: SGCD was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 SGCB Arina Puzriakova gene: SGCB was added
gene: SGCB was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 SF1 Arina Puzriakova gene: SF1 was added
gene: SF1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: SF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 SEPHS1 Arina Puzriakova gene: SEPHS1 was added
gene: SEPHS1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SEPHS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 RREB1 Arina Puzriakova gene: RREB1 was added
gene: RREB1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 ROBO4 Arina Puzriakova gene: ROBO4 was added
gene: ROBO4 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 RNU2-2P Arina Puzriakova gene: RNU2-2P was added
gene: RNU2-2P was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNU2-2P was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.146 RNPC3 Arina Puzriakova gene: RNPC3 was added
gene: RNPC3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 RNF13 Arina Puzriakova gene: RNF13 was added
gene: RNF13 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 RASA2 Arina Puzriakova gene: RASA2 was added
gene: RASA2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 POLA1 Arina Puzriakova gene: POLA1 was added
gene: POLA1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.146 PLXNB3 Arina Puzriakova gene: PLXNB3 was added
gene: PLXNB3 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: PLXNB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 PLXNB2 Arina Puzriakova gene: PLXNB2 was added
gene: PLXNB2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 PDCD6IP Arina Puzriakova gene: PDCD6IP was added
gene: PDCD6IP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PDCD6IP was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 PCLO Arina Puzriakova gene: PCLO was added
gene: PCLO was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 NOTCH3 Arina Puzriakova gene: NOTCH3 was added
gene: NOTCH3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 MMP9 Arina Puzriakova gene: MMP9 was added
gene: MMP9 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MMP9 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 LINC01578 Arina Puzriakova gene: LINC01578 was added
gene: LINC01578 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: LINC01578 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 LHX2 Arina Puzriakova gene: LHX2 was added
gene: LHX2 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: LHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 KCNN4 Arina Puzriakova gene: KCNN4 was added
gene: KCNN4 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: KCNN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 IKZF2 Arina Puzriakova gene: IKZF2 was added
gene: IKZF2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 HEY2 Arina Puzriakova gene: HEY2 was added
gene: HEY2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: HEY2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 HACD1 Arina Puzriakova gene: HACD1 was added
gene: HACD1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: HACD1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 FIBP Arina Puzriakova gene: FIBP was added
gene: FIBP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: FIBP was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 EXOSC1 Arina Puzriakova gene: EXOSC1 was added
gene: EXOSC1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: EXOSC1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 ELFN1 Arina Puzriakova gene: ELFN1 was added
gene: ELFN1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 DNAH14 Arina Puzriakova gene: DNAH14 was added
gene: DNAH14 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: DNAH14 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 DIP2C Arina Puzriakova gene: DIP2C was added
gene: DIP2C was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DIP2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 DHRS3 Arina Puzriakova gene: DHRS3 was added
gene: DHRS3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DHRS3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 DHPS Arina Puzriakova gene: DHPS was added
gene: DHPS was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 DDX23 Arina Puzriakova gene: DDX23 was added
gene: DDX23 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DDX23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 DDR1 Arina Puzriakova gene: DDR1 was added
gene: DDR1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DDR1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 CPOX Arina Puzriakova gene: CPOX was added
gene: CPOX was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CPOX was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 CDX1 Arina Puzriakova gene: CDX1 was added
gene: CDX1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CDX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 CDC40 Arina Puzriakova gene: CDC40 was added
gene: CDC40 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 BUB1 Arina Puzriakova gene: BUB1 was added
gene: BUB1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 BAZ2B Arina Puzriakova gene: BAZ2B was added
gene: BAZ2B was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 ATP6V0A1 Arina Puzriakova gene: ATP6V0A1 was added
gene: ATP6V0A1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ATP6V0A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.146 ARHGEF40 Arina Puzriakova gene: ARHGEF40 was added
gene: ARHGEF40 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ARHGEF40 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 ARAF Arina Puzriakova gene: ARAF was added
gene: ARAF was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ARAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 ALKBH8 Arina Puzriakova gene: ALKBH8 was added
gene: ALKBH8 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 AIMP2 Arina Puzriakova gene: AIMP2 was added
gene: AIMP2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 ADAMTS9 Arina Puzriakova gene: ADAMTS9 was added
gene: ADAMTS9 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 ADAMTS13 Arina Puzriakova gene: ADAMTS13 was added
gene: ADAMTS13 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 WASHC3 Arina Puzriakova gene: WASHC3 was added
gene: WASHC3 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: WASHC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.145 TMPRSS7 Arina Puzriakova gene: TMPRSS7 was added
gene: TMPRSS7 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TMPRSS7 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 TMEM263 Arina Puzriakova gene: TMEM263 was added
gene: TMEM263 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TMEM263 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 SMAD5 Arina Puzriakova gene: SMAD5 was added
gene: SMAD5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SMAD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.145 RAB35 Arina Puzriakova gene: RAB35 was added
gene: RAB35 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: RAB35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.145 PATJ Arina Puzriakova gene: PATJ was added
gene: PATJ was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PATJ was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 PACSIN3 Arina Puzriakova gene: PACSIN3 was added
gene: PACSIN3 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 NUDCD2 Arina Puzriakova gene: NUDCD2 was added
gene: NUDCD2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 HDAC2 Arina Puzriakova gene: HDAC2 was added
gene: HDAC2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: HDAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.145 ETV2 Arina Puzriakova gene: ETV2 was added
gene: ETV2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ETV2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 ENPP5 Arina Puzriakova gene: ENPP5 was added
gene: ENPP5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ENPP5 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 CEP162 Arina Puzriakova gene: CEP162 was added
gene: CEP162 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: CEP162 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 CCP110 Arina Puzriakova gene: CCP110 was added
gene: CCP110 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CCP110 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 CCM2L Arina Puzriakova gene: CCM2L was added
gene: CCM2L was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: CCM2L was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 BNIP1 Arina Puzriakova gene: BNIP1 was added
gene: BNIP1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 ARHGEF17 Arina Puzriakova gene: ARHGEF17 was added
gene: ARHGEF17 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ARHGEF17 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 AMOT Arina Puzriakova gene: AMOT was added
gene: AMOT was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: AMOT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.144 ZDHHC9 Arina Puzriakova Source Expert Review Amber was added to ZDHHC9.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 WDR11 Arina Puzriakova Source Expert Review Amber was added to WDR11.
Mode of inheritance for gene WDR11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 TEK Arina Puzriakova Source Expert Review Amber was added to TEK.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 PURA Arina Puzriakova Source Expert Review Amber was added to PURA.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 PPP1R13L Arina Puzriakova Source Expert Review Amber was added to PPP1R13L.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 PMS2 Arina Puzriakova Source Expert Review Amber was added to PMS2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 MSH6 Arina Puzriakova Source Expert Review Amber was added to MSH6.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 MSH2 Arina Puzriakova Source Expert Review Amber was added to MSH2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 MLH1 Arina Puzriakova Source Expert Review Amber was added to MLH1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 LDB3 Arina Puzriakova Source Expert Review Amber was added to LDB3.
Mode of inheritance for gene LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 KCNQ5 Arina Puzriakova Source Expert Review Red was added to KCNQ5.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v6.144 EDN1 Arina Puzriakova Mode of inheritance for gene EDN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.144 DLG3 Arina Puzriakova Source Expert Review Amber was added to DLG3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 AIMP1 Arina Puzriakova Source Expert Review Amber was added to AIMP1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.143 SGCG Arina Puzriakova Source Expert Review Red was added to SGCG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v6.143 ACVR2B Arina Puzriakova Source Expert Review Red was added to ACVR2B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v6.143 ZPR1 Arina Puzriakova gene: ZPR1 was added
gene: ZPR1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 ZNF668 Arina Puzriakova gene: ZNF668 was added
gene: ZNF668 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ZNF668 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 ZBTB7A Arina Puzriakova gene: ZBTB7A was added
gene: ZBTB7A was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ZBTB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 YY1AP1 Arina Puzriakova gene: YY1AP1 was added
gene: YY1AP1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: YY1AP1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 YRDC Arina Puzriakova Source Expert Review Green was added to YRDC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 WSB2 Arina Puzriakova Source Expert Review Green was added to WSB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 WNK3 Arina Puzriakova gene: WNK3 was added
gene: WNK3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: WNK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.143 WDR91 Arina Puzriakova Source Expert Review Green was added to WDR91.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 VPS51 Arina Puzriakova gene: VPS51 was added
gene: VPS51 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 VPS50 Arina Puzriakova gene: VPS50 was added
gene: VPS50 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: VPS50 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 VPS33A Arina Puzriakova gene: VPS33A was added
gene: VPS33A was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: VPS33A was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 UGGT1 Arina Puzriakova gene: UGGT1 was added
gene: UGGT1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TUBGCP2 Arina Puzriakova Source Expert Review Green was added to TUBGCP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 TTC26 Arina Puzriakova gene: TTC26 was added
gene: TTC26 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TRIO Arina Puzriakova Source Expert Review Green was added to TRIO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 TPRKB Arina Puzriakova gene: TPRKB was added
gene: TPRKB was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TP53RK Arina Puzriakova gene: TP53RK was added
gene: TP53RK was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TMEM251 Arina Puzriakova gene: TMEM251 was added
gene: TMEM251 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TMEM17 Arina Puzriakova gene: TMEM17 was added
gene: TMEM17 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TMEM17 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TMEM167A Arina Puzriakova gene: TMEM167A was added
gene: TMEM167A was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TMEM167A was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 THUMPD1 Arina Puzriakova gene: THUMPD1 was added
gene: THUMPD1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TASP1 Arina Puzriakova gene: TASP1 was added
gene: TASP1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SOX4 Arina Puzriakova gene: SOX4 was added
gene: SOX4 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 SNAPIN Arina Puzriakova Source Expert Review Green was added to SNAPIN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 SMG8 Arina Puzriakova gene: SMG8 was added
gene: SMG8 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SMC5 Arina Puzriakova gene: SMC5 was added
gene: SMC5 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SMARCC2 Arina Puzriakova gene: SMARCC2 was added
gene: SMARCC2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 SLF2 Arina Puzriakova gene: SLF2 was added
gene: SLF2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SLC5A6 Arina Puzriakova gene: SLC5A6 was added
gene: SLC5A6 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SKOR2 Arina Puzriakova gene: SKOR2 was added
gene: SKOR2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SKOR2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SIX2 Arina Puzriakova gene: SIX2 was added
gene: SIX2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SIX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 SHROOM4 Arina Puzriakova Source Expert Review Green was added to SHROOM4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 SELENON Arina Puzriakova Source Expert Review Green was added to SELENON.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 SCNM1 Arina Puzriakova gene: SCNM1 was added
gene: SCNM1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SATB1 Arina Puzriakova gene: SATB1 was added
gene: SATB1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 SART3 Arina Puzriakova gene: SART3 was added
gene: SART3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 RSG1 Arina Puzriakova gene: RSG1 was added
gene: RSG1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RSG1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 RNU7-1 Arina Puzriakova gene: RNU7-1 was added
gene: RNU7-1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 RHOBTB2 Arina Puzriakova gene: RHOBTB2 was added
gene: RHOBTB2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RHOBTB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.143 RBBP5 Arina Puzriakova gene: RBBP5 was added
gene: RBBP5 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RBBP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 RALGAPA1 Arina Puzriakova gene: RALGAPA1 was added
gene: RALGAPA1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 RALA Arina Puzriakova gene: RALA was added
gene: RALA was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 PTBP1 Arina Puzriakova Source Expert Review Green was added to PTBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 PRKCI Arina Puzriakova gene: PRKCI was added
gene: PRKCI was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PRKCI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 PRDM13 Arina Puzriakova gene: PRDM13 was added
gene: PRDM13 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PPP1R21 Arina Puzriakova gene: PPP1R21 was added
gene: PPP1R21 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PPP1R12A Arina Puzriakova Source Expert Review Green was added to PPP1R12A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 PLXNA1 Arina Puzriakova gene: PLXNA1 was added
gene: PLXNA1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.143 PIGU Arina Puzriakova gene: PIGU was added
gene: PIGU was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PIGK Arina Puzriakova gene: PIGK was added
gene: PIGK was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PIGB Arina Puzriakova gene: PIGB was added
gene: PIGB was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PDIA6 Arina Puzriakova gene: PDIA6 was added
gene: PDIA6 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PDCD2 Arina Puzriakova Source Expert Review Green was added to PDCD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 NUP133 Arina Puzriakova gene: NUP133 was added
gene: NUP133 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: NUP133 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 NSD2 Arina Puzriakova Source Expert Review Green was added to NSD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 NR6A1 Arina Puzriakova gene: NR6A1 was added
gene: NR6A1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 NOVA2 Arina Puzriakova Source Expert Review Green was added to NOVA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 MYLPF Arina Puzriakova gene: MYLPF was added
gene: MYLPF was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: MYLPF was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 MNS1 Arina Puzriakova Source Expert Review Green was added to MNS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 MAST1 Arina Puzriakova Source Expert Review Green was added to MAST1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 MAPK8IP3 Arina Puzriakova Source Expert Review Green was added to MAPK8IP3.
Mode of inheritance for gene MAPK8IP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 LSM1 Arina Puzriakova gene: LSM1 was added
gene: LSM1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 LRRC32 Arina Puzriakova gene: LRRC32 was added
gene: LRRC32 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 LMOD2 Arina Puzriakova gene: LMOD2 was added
gene: LMOD2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LMOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 LEF1 Arina Puzriakova gene: LEF1 was added
gene: LEF1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 KIAA0556 Arina Puzriakova Source Expert Review Green was added to KIAA0556.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 KDM4B Arina Puzriakova gene: KDM4B was added
gene: KDM4B was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 KCNJ8 Arina Puzriakova Source Expert Review Green was added to KCNJ8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 INPP4A Arina Puzriakova gene: INPP4A was added
gene: INPP4A was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 IL6ST Arina Puzriakova gene: IL6ST was added
gene: IL6ST was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 IFT57 Arina Puzriakova gene: IFT57 was added
gene: IFT57 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: IFT57 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 HNRNPR Arina Puzriakova gene: HNRNPR was added
gene: HNRNPR was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 HNRNPH1 Arina Puzriakova gene: HNRNPH1 was added
gene: HNRNPH1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: HNRNPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 HMGB1 Arina Puzriakova Source Expert Review Green was added to HMGB1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 HERC2 Arina Puzriakova gene: HERC2 was added
gene: HERC2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 H3F3B Arina Puzriakova gene: H3F3B was added
gene: H3F3B was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: H3F3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 GTF3C3 Arina Puzriakova gene: GTF3C3 was added
gene: GTF3C3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 GPKOW Arina Puzriakova Source Expert Review Green was added to GPKOW.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 GON7 Arina Puzriakova gene: GON7 was added
gene: GON7 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: GON7 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 GINS3 Arina Puzriakova gene: GINS3 was added
gene: GINS3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 GATAD2B Arina Puzriakova Source Expert Review Green was added to GATAD2B.
Mode of inheritance for gene GATAD2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 FOXI3 Arina Puzriakova Source Expert Review Green was added to FOXI3.
Mode of inheritance for gene FOXI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 FGF4 Arina Puzriakova gene: FGF4 was added
gene: FGF4 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: FGF4 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 FEM1B Arina Puzriakova gene: FEM1B was added
gene: FEM1B was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 FBXW7 Arina Puzriakova gene: FBXW7 was added
gene: FBXW7 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 FBXO28 Arina Puzriakova gene: FBXO28 was added
gene: FBXO28 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 EXOSC9 Arina Puzriakova Source Expert Review Green was added to EXOSC9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 EMC10 Arina Puzriakova gene: EMC10 was added
gene: EMC10 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 EIF4A2 Arina Puzriakova gene: EIF4A2 was added
gene: EIF4A2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: EIF4A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.143 DPH5 Arina Puzriakova gene: DPH5 was added
gene: DPH5 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: DPH5 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 DOT1L Arina Puzriakova gene: DOT1L was added
gene: DOT1L was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: DOT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 DHX37 Arina Puzriakova gene: DHX37 was added
gene: DHX37 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: DHX37 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CSDE1 Arina Puzriakova gene: CSDE1 was added
gene: CSDE1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 CLCNKB Arina Puzriakova Source Expert Review Green was added to CLCNKB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 CLCNKA Arina Puzriakova gene: CLCNKA was added
gene: CLCNKA was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CLCNKA was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CLCN3 Arina Puzriakova gene: CLCN3 was added
gene: CLCN3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CLCN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.143 CEP76 Arina Puzriakova gene: CEP76 was added
gene: CEP76 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CEP76 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CDC42BPB Arina Puzriakova gene: CDC42BPB was added
gene: CDC42BPB was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CDC42BPB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 CDC42 Arina Puzriakova gene: CDC42 was added
gene: CDC42 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 CCDC88A Arina Puzriakova gene: CCDC88A was added
gene: CCDC88A was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CCDC32 Arina Puzriakova gene: CCDC32 was added
gene: CCDC32 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CBFB Arina Puzriakova gene: CBFB was added
gene: CBFB was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 CAMSAP1 Arina Puzriakova gene: CAMSAP1 was added
gene: CAMSAP1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CACHD1 Arina Puzriakova Source Expert Review Green was added to CACHD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 BRF2 Arina Puzriakova gene: BRF2 was added
gene: BRF2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: BRF2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 BRF1 Arina Puzriakova Source Expert Review Green was added to BRF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 BBIP1 Arina Puzriakova gene: BBIP1 was added
gene: BBIP1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 B9D1 Arina Puzriakova Source Expert Review Green was added to B9D1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 ASXL2 Arina Puzriakova Source Expert Review Green was added to ASXL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 ARF3 Arina Puzriakova gene: ARF3 was added
gene: ARF3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ARF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 ANKLE2 Arina Puzriakova Source Expert Review Green was added to ANKLE2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 ADAT3 Arina Puzriakova gene: ADAT3 was added
gene: ADAT3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 ACVR1 Arina Puzriakova Source Expert Review Green was added to ACVR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 ABI2 Arina Puzriakova gene: ABI2 was added
gene: ABI2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.142 FSD1L Ida Ertmanska Tag Q1_26_promote_green was removed from gene: FSD1L.
Fetal anomalies v6.142 FSD1L Ida Ertmanska gene: FSD1L was added
gene: FSD1L was added to Fetal anomalies. Sources: Literature
Q1_26_promote_green tags were added to gene: FSD1L.
Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSD1L were set to 41720098; 41720099
Phenotypes for gene: FSD1L were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: FSD1L was set to GREEN
Added comment: PMID: 41720098 Serpieri et al., 2026
Report of eleven individuals (including five fetuses) from six unrelated families harbouring biallelic FSD1L variants. Seq method: exome sequencing. Consanguinity was confirmed in 4/6 families, and suspected in the fifth.
Phenotype spectrum: severe intellectual disability (5/5 assessed from 3 families), epilepsy (5 individuals from 3 families), severe hydrocephalus (3 families), vision deficit due to optic nerve hypoplasia/atrophy (3 families), spastic tetraparesis (2 families) corpus callosum hypoplasia/agenesis on MRI (5/5 families assessed),

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

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

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

FSD1L is not yet associated with a phenotype in OMIM or Gene2Phenotype.
Sources: Literature
Fetal anomalies v6.141 ALPL Arina Puzriakova Phenotypes for gene: ALPL were changed from HYPOPHOSPHATASIA to Hypophosphatasia, childhood, OMIM:241510; Hypophosphatasia, infantile, OMIM:241500
Fetal anomalies v6.140 CELSR3 Achchuthan Shanmugasundram Classified gene: CELSR3 as Amber List (moderate evidence)
Fetal anomalies v6.140 CELSR3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are sufficient number of patients reported with biallelic variants and CNS anomalies/ CAKUT. However, previous review suggests that the disease association is not convincing. Hence, expert review is sought on whether this gene can be promoted to green rating on this panel.
Fetal anomalies v6.140 CELSR3 Achchuthan Shanmugasundram Gene: celsr3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.139 CELSR3 Achchuthan Shanmugasundram Tag Q1_26_promote_green tag was added to gene: CELSR3.
Tag Q1_26_expert_review tag was added to gene: CELSR3.
Fetal anomalies v6.139 CELSR3 Achchuthan Shanmugasundram Phenotypes for gene: CELSR3 were changed from Neurodevelopmental disorder, MONDO:0700092, CELSR3-related to neurodevelopmental disorder, MONDO:0700092; congenital anomaly of kidney and urinary tract, MONDO:0019719
Fetal anomalies v6.138 CELSR3 Achchuthan Shanmugasundram edited their review of gene: CELSR3: Added comment: PMID:38429302 (2024) reported the identification of biallelic variants in CELSR3 gene in 12 individuals from 11 unrelated families. Six of 12 patients presented with homozygous missense and five with compound heterozygous missense CELSR3 variants, while one individual carried a heterozygous missense variant and an in-frame-deletion in trans.

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

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

This gene has not yet been associated with relevant phenotypes in OMIM (last accessed 26 February 2026) or ClinGen, but biallelic CELSR3 variants have been associated with 'limited' rating on the DD panel of Gene2Phenotype. This gene is also rated green on the Fetal anomalies panel of PanelApp Australia.; Changed rating: GREEN; Changed publications to: 38429302; Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, congenital anomaly of kidney and urinary tract, MONDO:0019719; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.138 PKHD1 Arina Puzriakova Phenotypes for gene: PKHD1 were changed from POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
Fetal anomalies v6.137 PAICS Arina Puzriakova Publications for gene: PAICS were set to 31178128; 31600779; 3965093; 38179855; 30758658
Fetal anomalies v6.136 CYP11A1 Eleanor Williams Tag Q1_26_MOI tag was added to gene: CYP11A1.
Fetal anomalies v6.135 CYP11A1 Ida Ertmanska reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11502818, 29995203, 30620006, 35418949, 39457196; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743, Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, MONDO:0013400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.135 SNAPIN Achchuthan Shanmugasundram Classified gene: SNAPIN as Amber List (moderate evidence)
Fetal anomalies v6.135 SNAPIN Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four foetuses from three unrelated families reported with biallelic SNAPIN variants and with neuroanatomical, craniofacial, and skeletal anomalies on prenatal ultrasound/MRI. Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v6.135 SNAPIN Achchuthan Shanmugasundram Gene: snapin has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.134 SNAPIN Achchuthan Shanmugasundram Tag Q1_26_promote_green tag was added to gene: SNAPIN.
Fetal anomalies v6.134 BHLHE22 Arina Puzriakova Classified gene: BHLHE22 as Amber List (moderate evidence)
Fetal anomalies v6.134 BHLHE22 Arina Puzriakova Gene: bhlhe22 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.133 BHLHE22 Arina Puzriakova Tag watchlist tag was added to gene: BHLHE22.
Fetal anomalies v6.133 BHLHE22 Arina Puzriakova changed review comment from: PMID:39502664 is currently still in pre-print and therefore this gene-disease association should be considered provisional pending peer-reviewed publication.; to: PMID:39502664 is currently still in pre-print and therefore this gene-disease association should be considered provisional pending peer-reviewed publication. Discussed with R21 expert group and agreed to demote to Amber awaiting publication.
Fetal anomalies v6.133 SNAPIN Achchuthan Shanmugasundram gene: SNAPIN was added
gene: SNAPIN was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SNAPIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAPIN were set to 40930097
Phenotypes for gene: SNAPIN were set to Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393
Review for gene: SNAPIN was set to GREEN
Added comment: PMID:40930097 (2025) reported six patients from five unrelated families presenting with neuroanatomical, craniofacial, and skeletal anomalies and were identified with homozygous variants in SNAPIN gene. This included four foetuses from three unrelated families (had nonsense or splice site variants - c.91G>T/ p.Glu31Ter, c.144−1G>A & c.112C>T/ p.Gln38Ter) and two unrelated patients aged eight years old and one year old (had missense variants - c.147G>C/ p.Glu49Asp & c.163C>T/ p.Arg55Trp). One of the foetuses had intrauterine demise at 26 weeks' gestation, and the other 3 pregnancies ended in termination.

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

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

This gene has been associated with relevant phenotype in OMIM (MIM #621393, last accessed on 02 January 2026), but not yet in Gene2Phenotype or ClinGen.
Sources: Literature
Fetal anomalies v6.132 WSB2 Achchuthan Shanmugasundram Classified gene: WSB2 as Amber List (moderate evidence)
Fetal anomalies v6.132 WSB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated patients reported with either IUGR or Oligohydramnios. Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v6.132 WSB2 Achchuthan Shanmugasundram Gene: wsb2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.131 WSB2 Achchuthan Shanmugasundram Tag Q1_26_promote_green tag was added to gene: WSB2.
Fetal anomalies v6.131 WSB2 Achchuthan Shanmugasundram gene: WSB2 was added
gene: WSB2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WSB2 were set to 40374945
Phenotypes for gene: WSB2 were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: WSB2 was set to GREEN
Added comment: PMID:40374945 reported five patients from four unrelated families with developmental delays, brain anomalies, and dysmorphic features with or without intrauterine growth restriction (IUGR) and hypotonia. They were all identified with homozygous predicted loss-of-function (pLoF) or missense variants in WSB2 gene (c.128G>A/ p.Trp43Ter, p.Gln134ArgfsTer14, c.1121G>A/ p.Arg374Gln & c.1187_1188delAA/ p.Lys396ArgfsTer19) inherited from asymptomatic consanguineous parents.

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

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

This gene has not been associated with relevant phenotypes either in OMIM, Gene2Phenotype or ClinGen.
Sources: Literature
Fetal anomalies v6.130 MIA3 Arina Puzriakova changed review comment from: Comment on phenotypes: OMIM phenotype (Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025; to: Comment on phenotypes: OMIM phenotype (?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025
Fetal anomalies v6.130 MIA3 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype (Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025
Fetal anomalies v6.130 MIA3 Arina Puzriakova Phenotypes for gene: MIA3 were changed from Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269 to ?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
Fetal anomalies v6.129 TSEN34 Ida Ertmanska Tag Q4_25_demote_amber tag was added to gene: TSEN34.
Fetal anomalies v6.129 TSEN34 Ida Ertmanska commented on gene: TSEN34: Comment on list classification: There is one patient reported in literature with a biallelic variant in TSEN34 and Pontocerebellar hypoplasia type 2. While TSEN34 shares a biochemical function with other genes known to cause Pontocerebellar hypoplasia type 2, the clinical evidence for this gene-disease association is lacking in literature. Hence, TSEN34 should be demoted to Amber for Ataxia and cerebellar anomalies - narrow panel, until more evidence emerges.
Fetal anomalies v6.129 TSEN34 Ida Ertmanska reviewed gene: TSEN34: Rating: AMBER; Mode of pathogenicity: None; Publications: 20952379, 27370523, 32476018, 37544645; Phenotypes: Pontocerebellar hypoplasia type 2C, OMIM:612390, pontocerebellar hypoplasia type 2C, MONDO:0012891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.129 BHLHE22 Arina Puzriakova commented on gene: BHLHE22: PMID:39502664 is currently still in pre-print and therefore this gene-disease association should be considered provisional pending peer-reviewed publication.
Fetal anomalies v6.129 DHRSX Achchuthan Shanmugasundram Tag Pseudoautosomal region 1 tag was added to gene: DHRSX.
Fetal anomalies v6.129 BHLHE22 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: BHLHE22.
Fetal anomalies v6.129 WDR47 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WDR47.
Fetal anomalies v6.129 LDB1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: LDB1.
Fetal anomalies v6.129 BORCS5 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: BORCS5.
Fetal anomalies v6.129 SENP7 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SENP7.
Fetal anomalies v6.129 SLC12A9 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SLC12A9.
Fetal anomalies v6.129 PHF5A Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PHF5A.
Fetal anomalies v6.129 DHRSX Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DHRSX.
Fetal anomalies v6.129 RNU5B-1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RNU5B-1.
Fetal anomalies v6.129 C1orf127 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621080) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.129 C1orf127 Achchuthan Shanmugasundram Phenotypes for gene: C1orf127 were changed from Heterotaxy, visceral, 14, autosomal, OMIM:621080 to Heterotaxy, visceral, 14, autosomal, OMIM:621080; heterotaxy, visceral, 14, autosomal, MONDO:0976135
Fetal anomalies v6.128 C1orf127 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C1orf127.
Fetal anomalies v6.128 PAN2 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621384) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.128 PAN2 Achchuthan Shanmugasundram Phenotypes for gene: PAN2 were changed from syndromic disease MONDO:0002254 to Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384
Fetal anomalies v6.127 PAN2 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: PAN2.
Fetal anomalies v6.127 AMOTL1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621192) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.127 AMOTL1 Achchuthan Shanmugasundram Phenotypes for gene: AMOTL1 were changed from Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related to Craniofaciocardiohepatic syndrome, OMIM:621192; craniofaciocardiohepatic syndrome, MONDO:0978295
Fetal anomalies v6.126 AMOTL1 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: AMOTL1.
Fetal anomalies v6.126 GON4L Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621212) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.126 GON4L Achchuthan Shanmugasundram Phenotypes for gene: GON4L were changed from complex neurodevelopmental disorder, MONDO:0100038 to Li-Takada-Miyake syndrome, OMIM:621212; Li-Takada-Miyake syndrome, MONDO:0978303
Fetal anomalies v6.125 GON4L Achchuthan Shanmugasundram Tag gene-checked was removed from gene: GON4L.
Fetal anomalies v6.125 TBC1D32 Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795 to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795; Alsahan-Harris syndrome, OMIM:621307; Alsahan-Harris syndrome, MONDO:0979871
Fetal anomalies v6.124 TBC1D32 Achchuthan Shanmugasundram changed review comment from: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #258865) and the OMIM record was last accessed on 18 December 2025.; to: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #258865 & #621307) and the OMIM records were last accessed on 18 December 2025.
Fetal anomalies v6.124 TBC1D32 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #258865) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.124 TBC1D32 Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from OFD IX to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795
Fetal anomalies v6.123 TBC1D32 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: TBC1D32.
Fetal anomalies v6.123 PAICS Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype (Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859) accessed on 17-12-2025
Fetal anomalies v6.123 PAICS Arina Puzriakova Phenotypes for gene: PAICS were changed from Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; Polyhydramnios; multiple congenital abnormalities; early neonatal death to Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859; Polyhydramnios; multiple congenital abnormalities; early neonatal death
Fetal anomalies v6.122 MIA3 Arina Puzriakova Publications for gene: MIA3 were set to 32101163; 40119123; 33778321
Fetal anomalies v6.121 MIA3 Arina Puzriakova commented on gene: MIA3: Another fetal case - PMID: 40130161 (2025) - Homozygous c.2768T>G, p.(Leu923*) was detected in a fetus from a Slovenian family who presented with short bones of extremities (7 percentile), fibular aplasia, bilateral radial aplasia, tibial aplasia, hypoplastic nasal bone, delayed ossification, and congenital contractures.
Fetal anomalies v6.121 ZEB1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ZEB1.
Tag Q3_25_NHS_review was removed from gene: ZEB1.
Fetal anomalies v6.121 WDR47 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: WDR47.
Tag Q3_25_NHS_review was removed from gene: WDR47.
Fetal anomalies v6.121 UNC13D Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: UNC13D.
Tag Q3_25_NHS_review was removed from gene: UNC13D.
Fetal anomalies v6.121 TCP1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: TCP1.
Tag Q3_25_NHS_review was removed from gene: TCP1.
Fetal anomalies v6.121 STX5 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: STX5.
Tag Q3_25_NHS_review was removed from gene: STX5.
Fetal anomalies v6.121 SRPK3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SRPK3.
Tag Q3_25_NHS_review was removed from gene: SRPK3.
Fetal anomalies v6.121 SPTA1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SPTA1.
Tag Q3_25_NHS_review was removed from gene: SPTA1.
Fetal anomalies v6.121 SPOUT1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SPOUT1.
Tag Q3_25_NHS_review was removed from gene: SPOUT1.
Fetal anomalies v6.121 SLC35A3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SLC35A3.
Tag Q3_25_NHS_review was removed from gene: SLC35A3.
Fetal anomalies v6.121 SLC12A9 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SLC12A9.
Tag Q3_25_NHS_review was removed from gene: SLC12A9.
Fetal anomalies v6.121 SENP7 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SENP7.
Tag Q3_25_NHS_review was removed from gene: SENP7.
Fetal anomalies v6.121 RPL26 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: RPL26.
Tag Q3_25_NHS_review was removed from gene: RPL26.
Fetal anomalies v6.121 RNU5B-1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: RNU5B-1.
Tag Q3_25_NHS_review was removed from gene: RNU5B-1.
Fetal anomalies v6.121 RIPPLY2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: RIPPLY2.
Tag Q3_25_NHS_review was removed from gene: RIPPLY2.
Fetal anomalies v6.121 RAB11B Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: RAB11B.
Tag Q3_25_NHS_review was removed from gene: RAB11B.
Fetal anomalies v6.121 PUS3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PUS3.
Tag Q3_25_NHS_review was removed from gene: PUS3.
Fetal anomalies v6.121 PTEN Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PTEN.
Tag Q3_25_NHS_review was removed from gene: PTEN.
Fetal anomalies v6.121 PSKH1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PSKH1.
Tag Q3_25_NHS_review was removed from gene: PSKH1.
Fetal anomalies v6.121 PPFIBP1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PPFIBP1.
Tag Q3_25_NHS_review was removed from gene: PPFIBP1.
Fetal anomalies v6.121 PPFIA3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PPFIA3.
Tag Q3_25_NHS_review was removed from gene: PPFIA3.
Fetal anomalies v6.121 PLAA Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PLAA.
Tag Q3_25_NHS_review was removed from gene: PLAA.
Fetal anomalies v6.121 PIGW Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PIGW.
Tag Q3_25_NHS_review was removed from gene: PIGW.
Fetal anomalies v6.121 PIGP Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PIGP.
Tag Q3_25_NHS_review was removed from gene: PIGP.
Fetal anomalies v6.121 PIGG Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PIGG.
Tag Q3_25_NHS_review was removed from gene: PIGG.
Fetal anomalies v6.121 PI4KA Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PI4KA.
Tag Q3_25_NHS_review was removed from gene: PI4KA.
Fetal anomalies v6.121 PHF5A Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PHF5A.
Tag Q3_25_NHS_review was removed from gene: PHF5A.
Fetal anomalies v6.121 PAK2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PAK2.
Tag Q3_25_NHS_review was removed from gene: PAK2.
Fetal anomalies v6.121 PAICS Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PAICS.
Tag Q3_25_NHS_review was removed from gene: PAICS.
Fetal anomalies v6.121 ODC1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ODC1.
Tag Q3_25_NHS_review was removed from gene: ODC1.
Fetal anomalies v6.121 NEXN Arina Puzriakova changed review comment from: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' as per the review.; to: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' to 'BIALLELIC, autosomal or pseudoautosomal' as per the review.
Fetal anomalies v6.121 NR2F1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: NR2F1.
Tag Q3_25_NHS_review was removed from gene: NR2F1.
Fetal anomalies v6.121 NODAL Achchuthan Shanmugasundram Tag Q3_25_NHS_review was removed from gene: NODAL.
Tag Q3_25_demote_red was removed from gene: NODAL.
Fetal anomalies v6.121 NEXN Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: NEXN.
Tag Q3_25_NHS_review was removed from gene: NEXN.
Fetal anomalies v6.121 NEPRO Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: NEPRO.
Tag Q3_25_NHS_review was removed from gene: NEPRO.
Fetal anomalies v6.121 NDUFB7 Achchuthan Shanmugasundram Tag Q1_25_ promote_green was removed from gene: NDUFB7.
Tag Q3_25_NHS_review was removed from gene: NDUFB7.
Fetal anomalies v6.121 MYH9 Achchuthan Shanmugasundram Tag Q3_25_NHS_review was removed from gene: MYH9.
Tag Q3_25_demote_red was removed from gene: MYH9.
Fetal anomalies v6.121 MSL2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MSL2.
Tag Q3_25_NHS_review was removed from gene: MSL2.
Fetal anomalies v6.121 MIA3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MIA3.
Tag Q3_25_NHS_review was removed from gene: MIA3.
Fetal anomalies v6.121 MED11 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MED11.
Tag Q3_25_NHS_review was removed from gene: MED11.
Fetal anomalies v6.121 MAPK1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MAPK1.
Tag Q3_25_NHS_review was removed from gene: MAPK1.
Fetal anomalies v6.121 MAGED2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MAGED2.
Tag Q3_25_NHS_review was removed from gene: MAGED2.
Fetal anomalies v6.121 LSS Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LSS.
Tag Q3_25_NHS_review was removed from gene: LSS.
Fetal anomalies v6.121 LGI3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LGI3.
Tag Q3_25_NHS_review was removed from gene: LGI3.
Fetal anomalies v6.121 LDB1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LDB1.
Tag Q3_25_NHS_review was removed from gene: LDB1.
Fetal anomalies v6.121 LAGE3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LAGE3.
Tag Q3_25_NHS_review was removed from gene: LAGE3.
Fetal anomalies v6.121 ITGAV Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ITGAV.
Tag Q3_25_NHS_review was removed from gene: ITGAV.
Fetal anomalies v6.121 IFT27 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: IFT27.
Tag Q3_25_NHS_review was removed from gene: IFT27.
Fetal anomalies v6.121 HNRNPU Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: HNRNPU.
Tag Q3_25_NHS_review was removed from gene: HNRNPU.
Fetal anomalies v6.121 HDAC3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: HDAC3.
Tag Q3_25_NHS_review was removed from gene: HDAC3.
Fetal anomalies v6.121 GNS Achchuthan Shanmugasundram Tag Q3_25_NHS_review was removed from gene: GNS.
Tag Q3_25_demote_amber was removed from gene: GNS.
Fetal anomalies v6.121 GNAI2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: GNAI2.
Tag Q3_25_NHS_review was removed from gene: GNAI2.
Fetal anomalies v6.121 GEMIN4 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: GEMIN4.
Tag Q3_25_NHS_review was removed from gene: GEMIN4.
Fetal anomalies v6.121 GALT Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: GALT.
Tag Q3_25_NHS_review was removed from gene: GALT.
Fetal anomalies v6.121 FLVCR1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: FLVCR1.
Fetal anomalies v6.121 FAAP100 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: FAAP100.
Tag Q3_25_NHS_review was removed from gene: FAAP100.
Fetal anomalies v6.121 EXOSC8 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: EXOSC8.
Tag Q3_25_NHS_review was removed from gene: EXOSC8.
Fetal anomalies v6.121 EXOC6B Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: EXOC6B.
Tag Q3_25_NHS_review was removed from gene: EXOC6B.
Fetal anomalies v6.121 EFL1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: EFL1.
Tag Q3_25_NHS_review was removed from gene: EFL1.
Fetal anomalies v6.121 EEFSEC Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: EEFSEC.
Tag Q3_25_NHS_review was removed from gene: EEFSEC.
Fetal anomalies v6.121 MIA3 Arina Puzriakova Phenotypes for gene: MIA3 were changed from Ondontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269 to Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
Fetal anomalies v6.120 C1orf127 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: C1orf127.
Tag Q2_25_ NHS_review was removed from gene: C1orf127.
Fetal anomalies v6.120 DST Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: DST.
Tag Q3_25_NHS_review was removed from gene: DST.
Fetal anomalies v6.120 DSE Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: DSE.
Tag Q3_25_NHS_review was removed from gene: DSE.
Fetal anomalies v6.120 DHX9 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: DHX9.
Tag Q3_25_NHS_review was removed from gene: DHX9.
Fetal anomalies v6.120 DHRSX Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: DHRSX.
Tag Q3_25_NHS_review was removed from gene: DHRSX.
Fetal anomalies v6.120 CTGF Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: CTGF.
Tag Q3_25_NHS_review was removed from gene: CTGF.
Fetal anomalies v6.120 COQ2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: COQ2.
Tag Q3_25_NHS_review was removed from gene: COQ2.
Fetal anomalies v6.120 COMP Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: COMP.
Tag Q3_25_NHS_review was removed from gene: COMP.
Fetal anomalies v6.120 COL25A1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: COL25A1.
Tag Q3_25_NHS_review was removed from gene: COL25A1.
Fetal anomalies v6.120 CELSR1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: CELSR1.
Tag Q3_25_NHS_review was removed from gene: CELSR1.
Fetal anomalies v6.120 CDK5 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: CDK5.
Tag Q3_25_NHS_review was removed from gene: CDK5.
Fetal anomalies v6.120 C12orf66 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: C12orf66.
Tag Q3_25_NHS_review was removed from gene: C12orf66.
Fetal anomalies v6.120 BORCS5 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: BORCS5.
Tag Q3_25_NHS_review was removed from gene: BORCS5.
Fetal anomalies v6.120 BHLHE22 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: BHLHE22.
Tag Q3_25_NHS_review was removed from gene: BHLHE22.
Fetal anomalies v6.120 ARL6IP1 Achchuthan Shanmugasundram Tag Q3_24_NHS_review was removed from gene: ARL6IP1.
Tag Q3_25_promote_green was removed from gene: ARL6IP1.
Fetal anomalies v6.120 ARL2BP Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ARL2BP.
Tag Q3_25_NHS_review was removed from gene: ARL2BP.
Fetal anomalies v6.120 AGT Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: AGT.
Tag Q3_25_NHS_review was removed from gene: AGT.
Fetal anomalies v6.120 AGRN Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: AGRN.
Tag Q3_25_NHS_review was removed from gene: AGRN.
Fetal anomalies v6.120 ZEB1 Achchuthan Shanmugasundram reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 WDR47 Achchuthan Shanmugasundram reviewed gene: WDR47: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 UNC13D Achchuthan Shanmugasundram edited their review of gene: UNC13D: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 TCP1 Achchuthan Shanmugasundram reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 STX5 Achchuthan Shanmugasundram edited their review of gene: STX5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 SRPK3 Achchuthan Shanmugasundram reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 SPTA1 Achchuthan Shanmugasundram edited their review of gene: SPTA1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 SPOUT1 Achchuthan Shanmugasundram reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 SLC35A3 Achchuthan Shanmugasundram reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 SLC12A9 Achchuthan Shanmugasundram reviewed gene: SLC12A9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 SENP7 Achchuthan Shanmugasundram reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 RPL26 Achchuthan Shanmugasundram reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 RNU5B-1 Achchuthan Shanmugasundram reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 RIPPLY2 Achchuthan Shanmugasundram reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 RAB11B Achchuthan Shanmugasundram edited their review of gene: RAB11B: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 PUS3 Achchuthan Shanmugasundram reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PTEN Achchuthan Shanmugasundram reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PSKH1 Achchuthan Shanmugasundram reviewed gene: PSKH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PPFIBP1 Achchuthan Shanmugasundram reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PPFIA3 Achchuthan Shanmugasundram reviewed gene: PPFIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PLAA Achchuthan Shanmugasundram edited their review of gene: PLAA: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 PIGW Achchuthan Shanmugasundram reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PIGP Achchuthan Shanmugasundram reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PIGG Achchuthan Shanmugasundram edited their review of gene: PIGG: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 PI4KA Achchuthan Shanmugasundram edited their review of gene: PI4KA: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 PHF5A Achchuthan Shanmugasundram reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PDE12 Achchuthan Shanmugasundram edited their review of gene: PDE12: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewers commented as follows: The concern from the panel for this one is that the two prenatal presentations are very different. There is no link between brain anomalies and hydrops. The panel want to see more evidence that the gene is causing a prenatal pehnotype and there is not another cuase of these abnormalities in these families.; Changed rating: AMBER
Fetal anomalies v6.120 PAK2 Achchuthan Shanmugasundram reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PAICS Achchuthan Shanmugasundram reviewed gene: PAICS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 ODC1 Achchuthan Shanmugasundram reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 NR2F1 Achchuthan Shanmugasundram reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 NODAL Achchuthan Shanmugasundram reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 NEXN Achchuthan Shanmugasundram edited their review of gene: NEXN: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 NEPRO Achchuthan Shanmugasundram reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 NDUFB7 Achchuthan Shanmugasundram reviewed gene: NDUFB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MYH9 Achchuthan Shanmugasundram reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MSL2 Achchuthan Shanmugasundram reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MIA3 Achchuthan Shanmugasundram reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MED11 Achchuthan Shanmugasundram reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MAPK1 Achchuthan Shanmugasundram edited their review of gene: MAPK1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 MAGED2 Achchuthan Shanmugasundram reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 LSS Achchuthan Shanmugasundram reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 LGI3 Achchuthan Shanmugasundram reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 LDB1 Achchuthan Shanmugasundram reviewed gene: LDB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 LAGE3 Achchuthan Shanmugasundram edited their review of gene: LAGE3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 ITGAV Achchuthan Shanmugasundram edited their review of gene: ITGAV: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 IFT27 Achchuthan Shanmugasundram edited their review of gene: IFT27: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 HNRNPU Achchuthan Shanmugasundram reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 HDAC3 Achchuthan Shanmugasundram reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 GNS Achchuthan Shanmugasundram reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 GNAI2 Achchuthan Shanmugasundram reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 GEMIN4 Achchuthan Shanmugasundram reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 GALT Achchuthan Shanmugasundram reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 FLVCR1 Achchuthan Shanmugasundram reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 FLII Achchuthan Shanmugasundram reviewed gene: FLII: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 FAAP100 Achchuthan Shanmugasundram reviewed gene: FAAP100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 EXOSC8 Achchuthan Shanmugasundram edited their review of gene: EXOSC8: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 EXOC6B Achchuthan Shanmugasundram reviewed gene: EXOC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 EFL1 Achchuthan Shanmugasundram reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 EEFSEC Achchuthan Shanmugasundram reviewed gene: EEFSEC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 DST Achchuthan Shanmugasundram reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 DSE Achchuthan Shanmugasundram reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 DHX9 Achchuthan Shanmugasundram reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 DHRSX Achchuthan Shanmugasundram reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 CTGF Achchuthan Shanmugasundram reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 COQ2 Achchuthan Shanmugasundram reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 COMP Achchuthan Shanmugasundram reviewed gene: COMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 COL25A1 Achchuthan Shanmugasundram edited their review of gene: COL25A1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 CELSR1 Achchuthan Shanmugasundram edited their review of gene: CELSR1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 CDK5 Achchuthan Shanmugasundram reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 C1orf127 Achchuthan Shanmugasundram reviewed gene: C1orf127: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 C12orf66 Achchuthan Shanmugasundram reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 BORCS5 Achchuthan Shanmugasundram reviewed gene: BORCS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 BHLHE22 Achchuthan Shanmugasundram reviewed gene: BHLHE22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 ARL6IP1 Achchuthan Shanmugasundram reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 ARL2BP Achchuthan Shanmugasundram reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 AGT Achchuthan Shanmugasundram edited their review of gene: AGT: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 AGRN Achchuthan Shanmugasundram reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.119 ZEB1 Arina Puzriakova Source Expert Review Green was added to ZEB1.
Source NHS GMS was added to ZEB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 WDR47 Arina Puzriakova Source Expert Review Green was added to WDR47.
Source NHS GMS was added to WDR47.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 UNC13D Arina Puzriakova Source Expert Review Green was added to UNC13D.
Source NHS GMS was added to UNC13D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 TCP1 Arina Puzriakova Source Expert Review Green was added to TCP1.
Source NHS GMS was added to TCP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 STX5 Arina Puzriakova Source Expert Review Green was added to STX5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SRPK3 Arina Puzriakova Source Expert Review Green was added to SRPK3.
Source NHS GMS was added to SRPK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SPTA1 Arina Puzriakova Source Expert Review Green was added to SPTA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SPOUT1 Arina Puzriakova Source Expert Review Green was added to SPOUT1.
Source NHS GMS was added to SPOUT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SLC35A3 Arina Puzriakova Source Expert Review Green was added to SLC35A3.
Source NHS GMS was added to SLC35A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SLC12A9 Arina Puzriakova Source Expert Review Green was added to SLC12A9.
Source NHS GMS was added to SLC12A9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SENP7 Arina Puzriakova Source Expert Review Green was added to SENP7.
Source NHS GMS was added to SENP7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 RPL26 Arina Puzriakova Source Expert Review Green was added to RPL26.
Source NHS GMS was added to RPL26.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 RNU5B-1 Arina Puzriakova Source Expert Review Green was added to RNU5B-1.
Source NHS GMS was added to RNU5B-1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 RIPPLY2 Arina Puzriakova Source Expert Review Green was added to RIPPLY2.
Source NHS GMS was added to RIPPLY2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 RAB11B Arina Puzriakova Source Expert Review Green was added to RAB11B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PUS3 Arina Puzriakova Source Expert Review Green was added to PUS3.
Source NHS GMS was added to PUS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PTEN Arina Puzriakova Source Expert Review Green was added to PTEN.
Source NHS GMS was added to PTEN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PSKH1 Arina Puzriakova Source Expert Review Green was added to PSKH1.
Source NHS GMS was added to PSKH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PPFIBP1 Arina Puzriakova Source Expert Review Green was added to PPFIBP1.
Source NHS GMS was added to PPFIBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PPFIA3 Arina Puzriakova Source Expert Review Green was added to PPFIA3.
Source NHS GMS was added to PPFIA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PLAA Arina Puzriakova Source Expert Review Green was added to PLAA.
Source NHS GMS was added to PLAA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PIGW Arina Puzriakova Source Expert Review Green was added to PIGW.
Source NHS GMS was added to PIGW.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PIGP Arina Puzriakova Source Expert Review Green was added to PIGP.
Source NHS GMS was added to PIGP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PIGG Arina Puzriakova Source Expert Review Green was added to PIGG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PI4KA Arina Puzriakova Source Expert Review Green was added to PI4KA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PHF5A Arina Puzriakova Source Expert Review Green was added to PHF5A.
Source NHS GMS was added to PHF5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PAK2 Arina Puzriakova Source Expert Review Green was added to PAK2.
Source NHS GMS was added to PAK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PAICS Arina Puzriakova Source Expert Review Green was added to PAICS.
Source NHS GMS was added to PAICS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 ODC1 Arina Puzriakova Source Expert Review Green was added to ODC1.
Source NHS GMS was added to ODC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 NR2F1 Arina Puzriakova Source Expert Review Green was added to NR2F1.
Source NHS GMS was added to NR2F1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 NODAL Arina Puzriakova Source Expert Review Red was added to NODAL.
Source NHS GMS was added to NODAL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v6.119 NEXN Arina Puzriakova Source Expert Review Green was added to NEXN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 NEPRO Arina Puzriakova Source Expert Review Green was added to NEPRO.
Source NHS GMS was added to NEPRO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 MYH9 Arina Puzriakova Source Expert Review Red was added to MYH9.
Source NHS GMS was added to MYH9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v6.119 MSL2 Arina Puzriakova Source Expert Review Green was added to MSL2.
Source NHS GMS was added to MSL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 MIA3 Arina Puzriakova Source Expert Review Green was added to MIA3.
Source NHS GMS was added to MIA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 MED11 Arina Puzriakova Source Expert Review Green was added to MED11.
Source NHS GMS was added to MED11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 MAPK1 Arina Puzriakova Source Expert Review Green was added to MAPK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 MAGED2 Arina Puzriakova Source Expert Review Green was added to MAGED2.
Source NHS GMS was added to MAGED2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 LSS Arina Puzriakova Source Expert Review Green was added to LSS.
Source NHS GMS was added to LSS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 LGI3 Arina Puzriakova Source Expert Review Green was added to LGI3.
Source NHS GMS was added to LGI3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 LDB1 Arina Puzriakova Source Expert Review Green was added to LDB1.
Source NHS GMS was added to LDB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 LAGE3 Arina Puzriakova Source Expert Review Green was added to LAGE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 ITGAV Arina Puzriakova Source Expert Review Green was added to ITGAV.
Source NHS GMS was added to ITGAV.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 IFT27 Arina Puzriakova Source Expert Review Green was added to IFT27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 HNRNPU Arina Puzriakova Source Expert Review Green was added to HNRNPU.
Source NHS GMS was added to HNRNPU.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 HDAC3 Arina Puzriakova Source Expert Review Green was added to HDAC3.
Source NHS GMS was added to HDAC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 GNS Arina Puzriakova Source Expert Review Amber was added to GNS.
Source NHS GMS was added to GNS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v6.119 GNAI2 Arina Puzriakova Source Expert Review Green was added to GNAI2.
Source NHS GMS was added to GNAI2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 GEMIN4 Arina Puzriakova Source Expert Review Green was added to GEMIN4.
Source NHS GMS was added to GEMIN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 GALT Arina Puzriakova Source Expert Review Green was added to GALT.
Source NHS GMS was added to GALT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 FLVCR1 Arina Puzriakova Source Expert Review Green was added to FLVCR1.
Source NHS GMS was added to FLVCR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 FAAP100 Arina Puzriakova Source Expert Review Green was added to FAAP100.
Source NHS GMS was added to FAAP100.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 EXOSC8 Arina Puzriakova Source Expert Review Green was added to EXOSC8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 EXOC6B Arina Puzriakova Source Expert Review Green was added to EXOC6B.
Source NHS GMS was added to EXOC6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 EFL1 Arina Puzriakova Source Expert Review Green was added to EFL1.
Source NHS GMS was added to EFL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 EEFSEC Arina Puzriakova Source Expert Review Green was added to EEFSEC.
Source NHS GMS was added to EEFSEC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 DST Arina Puzriakova Source Expert Review Green was added to DST.
Source NHS GMS was added to DST.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 DSE Arina Puzriakova Source Expert Review Green was added to DSE.
Source NHS GMS was added to DSE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 DHX9 Arina Puzriakova Source Expert Review Green was added to DHX9.
Source NHS GMS was added to DHX9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 DHRSX Arina Puzriakova Source Expert Review Green was added to DHRSX.
Source NHS GMS was added to DHRSX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 CTGF Arina Puzriakova Source Expert Review Green was added to CTGF.
Source NHS GMS was added to CTGF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 COQ2 Arina Puzriakova Source Expert Review Green was added to COQ2.
Source NHS GMS was added to COQ2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 COMP Arina Puzriakova Source Expert Review Green was added to COMP.
Source NHS GMS was added to COMP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 COL25A1 Arina Puzriakova Source Expert Review Green was added to COL25A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 CELSR1 Arina Puzriakova Source Expert Review Green was added to CELSR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 CDK5 Arina Puzriakova Source Expert Review Green was added to CDK5.
Source NHS GMS was added to CDK5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 C1orf127 Arina Puzriakova Source Expert Review Green was added to C1orf127.
Source NHS GMS was added to C1orf127.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 C12orf66 Arina Puzriakova Source Expert Review Green was added to C12orf66.
Source NHS GMS was added to C12orf66.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 BORCS5 Arina Puzriakova Source Expert Review Green was added to BORCS5.
Source NHS GMS was added to BORCS5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 BHLHE22 Arina Puzriakova Source Expert Review Green was added to BHLHE22.
Source NHS GMS was added to BHLHE22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 ARL6IP1 Arina Puzriakova Source Expert Review Green was added to ARL6IP1.
Source NHS GMS was added to ARL6IP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 ARL2BP Arina Puzriakova Source Expert Review Green was added to ARL2BP.
Source NHS GMS was added to ARL2BP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 AGT Arina Puzriakova Source Expert Review Green was added to AGT.
Source NHS GMS was added to AGT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 AGRN Arina Puzriakova Source Expert Review Green was added to AGRN.
Source NHS GMS was added to AGRN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 NDUFB7 Arina Puzriakova Source Expert Review Green was added to NDUFB7.
Source NHS GMS was added to NDUFB7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.118 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Fetal anomalies v6.118 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Fetal anomalies v6.117 DMPK_CTG Arina Puzriakova Tag Q3_25_promote_green was removed from STR: DMPK_CTG.
Tag Q3_25_NHS_review was removed from STR: DMPK_CTG.
Fetal anomalies v6.117 DMPK_CTG Arina Puzriakova commented on STR: DMPK_CTG: The rating of this STR has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.117 XYLT1_GCC Arina Puzriakova commented on STR: XYLT1_GCC: R21 Clinical Oversight Group comment: Agree that this should be approved by the STR group first
Fetal anomalies v6.117 ITGAV Eleanor Williams Phenotypes for gene: ITGAV were changed from Syndromic disease, MONDO:0002254 to syndromic disease, MONDO:0002254
Fetal anomalies v6.116 GPKOW Eleanor Williams edited their review of gene: GPKOW: Changed rating: GREEN
Fetal anomalies v6.116 GPKOW Eleanor Williams edited their review of gene: GPKOW: Changed rating: AMBER
Fetal anomalies v6.116 ASXL1 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype accessed 3rd Nov 2025.
Fetal anomalies v6.116 ASXL1 Ida Ertmanska Phenotypes for gene: ASXL1 were changed from BOHRING-OPITZ SYNDROME to Bohring-Opitz syndrome, OMIM:605039; Bohring-Opitz syndrome, MONDO:0011510
Fetal anomalies v6.115 SCN4A Arina Puzriakova Tag Q2_25_expert_review was removed from gene: SCN4A.
Fetal anomalies v6.115 KIAA0556 Arina Puzriakova Classified gene: KIAA0556 as Amber List (moderate evidence)
Fetal anomalies v6.115 KIAA0556 Arina Puzriakova Added comment: Comment on list classification: Upgrading from Red to Amber and tagging for additional GMS expert review to determine whether there is sufficient evidence to indicate that the phenotype is prenatally relevant.

The main finding that may plausibly be detected prenatally is cerebellar hypoplasia / molar tooth sign. Other possible fetal scan findings include: PMIDs 26714646 and 32164589 each reference one case with cleft lip and palate (although the latter had dual molecular findings) and PMID 40428346 had post-axial polydactyly. Although molar-tooth sign was present in a number of cases, there is no indication that prenatal abnormalities were detected in published cases.
Fetal anomalies v6.115 KIAA0556 Arina Puzriakova Gene: kiaa0556 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.114 KIAA0556 Arina Puzriakova Phenotypes for gene: KIAA0556 were changed from Joubert syndrome 26, OMIM:616784 to Joubert syndrome 26, OMIM:616784; Joubert syndrome 26, MONDO:0014771
Fetal anomalies v6.113 KIAA0556 Arina Puzriakova Publications for gene: KIAA0556 were set to 27245168; 26714646
Fetal anomalies v6.112 KIAA0556 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: KIAA0556.
Tag Q3_25_expert_review tag was added to gene: KIAA0556.
Fetal anomalies v6.112 KIAA0556 Arina Puzriakova reviewed gene: KIAA0556: Rating: AMBER; Mode of pathogenicity: None; Publications: 26714646, 27245168, 31197031, 31197031, 36580738, 40725402, 40428346, 32164589, 30982090; Phenotypes: Joubert syndrome 26, OMIM:616784, Joubert syndrome 26, MONDO:0014771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.112 DISP1 Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: DISP1.
Fetal anomalies v6.112 DISP1 Ida Ertmanska changed review comment from: There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1. Among fetal cases, there are only 2 biallelic cases with DISP1 variants alone. Other individuals harboured biallelic variants in DISP1, as well as potentially pathogenic variants in other genes. Digenic inheritance appears to be common for this condition.

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

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

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).
Fetal anomalies v6.112 DISP1 Ida Ertmanska commented on gene: DISP1: Comment on mode of inheritance: There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1. Among fetal cases, there are only 2 biallelic cases with DISP1 variants alone. Other individuals harboured biallelic variants in DISP1, as well as potentially pathogenic variants in other genes. Digenic inheritance appears to be common for this condition. Gene tagged for expert review to decide the appropriate MOI.
Fetal anomalies v6.112 DISP1 Ida Ertmanska Tag Q3_25_expert_review tag was added to gene: DISP1.
Fetal anomalies v6.112 DISP1 Ida Ertmanska edited their review of gene: DISP1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.112 DISP1 Ida Ertmanska edited their review of gene: DISP1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.112 DISP1 Ida Ertmanska changed review comment from: MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1.

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

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

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

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

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

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

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

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

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

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

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

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

This was based on the following evidence:
Although over 25 unique variants have been reported in humans, autism spectrum disorder was the primary ascertainment for the largest number of individuals. Variants have also been reported in probands with intellectual disability and/or developmental delay. However, the variants were primarily identified in individuals with limited phenotype data from large cohort studies, and none had experimental evidence of gene impact (PMIDs: 21572417, 23160955, 27525107, 28191889, 28965761, 30564305, 31398340).
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: The 'Disputed' rating on ClinGen is only relevant for monoallelic MOI. As there is sufficient evidence available for the association of biallelic variants with the phenotype, this gene should remain green on this panel with biallelic MOI.; to: Comment on list classification: The 'Disputed' rating on ClinGen is only relevant for monoallelic MOI. As there is sufficient evidence available for the association of biallelic variants with the phenotype, this gene should remain green with biallelic MOI on this panel.
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram Classified gene: LAMC3 as Green List (high evidence)
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram Added comment: Comment on list classification: The 'Disputed' rating on ClinGen is only relevant for monoallelic MOI. As there is sufficient evidence available for the association of biallelic variants with the phenotype, this gene should remain green on this panel with biallelic MOI.
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram Gene: lamc3 has been classified as Green List (High Evidence).
Fetal anomalies v6.111 CDK5 Eleanor Williams Phenotypes for gene: CDK5 were changed from Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342 to Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342; lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596
Fetal anomalies v6.110 SIX5 Arina Puzriakova Classified gene: SIX5 as Green List (high evidence)
Fetal anomalies v6.110 SIX5 Arina Puzriakova Added comment: Comment on list classification: As the evidence for the association of SIX5 with branchio-oto-renal syndrome is disputed, this gene should be considered for demotion to red rating in the next GMS update.
Fetal anomalies v6.110 SIX5 Arina Puzriakova Gene: six5 has been classified as Green List (High Evidence).
Fetal anomalies v6.109 SIX5 Arina Puzriakova reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v6.109 SIX5 Arina Puzriakova Tag Q3_25_expert_review tag was added to gene: SIX5.
Tag disputed tag was added to gene: SIX5.
Tag Q3_25_demote_red tag was added to gene: SIX5.
Fetal anomalies v6.109 SIX5 Arina Puzriakova Phenotypes for gene: SIX5 were changed from BRANCHIOOTORENAL SYNDROME TYPE 2 to Branchiootorenal syndrome 2, OMIM:610896
Fetal anomalies v6.108 LAMC3 Achchuthan Shanmugasundram Publications for gene: LAMC3 were set to 30266093
Fetal anomalies v6.107 LAMC3 Achchuthan Shanmugasundram reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21572413, 26802095, 29247375, 30266093, 33639934, 34354730; Phenotypes: Cortical malformations, occipital, OMIM:614115, occipital pachygyria and polymicrogyria, MONDO:0013583; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.107 LAMC3 Eleanor Williams Publications for gene: LAMC3 were set to
Fetal anomalies v6.106 LAMC3 Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 21st October 2025
Fetal anomalies v6.106 LAMC3 Eleanor Williams Phenotypes for gene: LAMC3 were changed from OCCIPITAL CORTICAL MALFORMATIONS to Cortical malformations, occipital, OMIM:614115; occipital pachygyria and polymicrogyria, MONDO:0013583
Fetal anomalies v6.105 PTBP1 Arina Puzriakova edited their review of gene: PTBP1: Changed rating: GREEN; Changed publications to: 40965981; Changed phenotypes to: Neurodevelopmental disorder, MONDO:0700092; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.105 PTBP1 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update based on 27 individuals from 25 families identified in PMID: 40965981 with start-loss (89%) or missense (11%) variants, confirmed de novo in 23/27 (plus 2 sibs with variant inherited from symptomatic mother, and segregation data unavailable in 2 others).

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

Prenatal ultrasound was abnormal in thirteen (48%), revealing short femora (5/13, 38%), IUGR (31%), hydramnios (2/13, 15%), increased nuchal translucency (15%), asymmetry of heart cavities (1/13, 8%), and bilateral hydronephrosis (8%). It led to the diagnosis of skeletal dysplasia in two.
Fetal anomalies v6.105 PTBP1 Arina Puzriakova Tag Q3_25_NHS_review was removed from gene: PTBP1.
Fetal anomalies v6.105 PTBP1 Arina Puzriakova Entity copied from Skeletal dysplasia v8.20
Fetal anomalies v6.105 PTBP1 Arina Puzriakova gene: PTBP1 was added
gene: PTBP1 was added to Fetal anomalies. Sources: Literature,Expert Review Amber,NHS GMS
Q3_25_promote_green, Q3_25_NHS_review tags were added to gene: PTBP1.
Mode of inheritance for gene: PTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTBP1 were set to 40965981
Phenotypes for gene: PTBP1 were set to Neurodevelopmental disorder, MONDO:0700092
Penetrance for gene: PTBP1 were set to unknown
Fetal anomalies v6.104 KIAA0556 Eleanor Williams commented on gene: KIAA0556
Fetal anomalies v6.104 KIAA0556 Eleanor Williams Tag new-gene-name tag was added to gene: KIAA0556.
Fetal anomalies v6.104 RBFOX2 Arina Puzriakova Phenotypes for gene: RBFOX2 were changed from Congenital heart disease, MONDO:0005453 to Congenital heart disease, MONDO:0005453; hypoplastic left heart syndrome, MONDO:0004933
Fetal anomalies v6.103 PLD1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PLD1.
Tag Q3_25_expert_review tag was added to gene: PLD1.
Fetal anomalies v6.103 PLD1 Arina Puzriakova commented on gene: PLD1: This gene was previously downgraded from Green to Amber following review by Jesse Hayesmoore highlighting the presence of homozygotes in population databases, including some patient variants. However, additional cases have continued to be published albeit often with limited information and no extensive functional studies. This gene-condition has been reviewed by multiple resources including:

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

Given the classification on Genomics England PanelApp currently conflicts with multiple other resources, this gene will be flagged for additional expert review during the next GMS panel release.
Fetal anomalies v6.103 PLD1 Arina Puzriakova Publications for gene: PLD1 were set to 33645542; 27799408; 33142350
Fetal anomalies v6.102 PLD1 Arina Puzriakova Added comment: Comment on phenotypes: Updated OMIM:212093 phenotype from 'Cardiac valvular defect, developmental' to 'Cardiac valvular dysplasia 1' (accessed on 20-10-2025)
Fetal anomalies v6.102 PLD1 Arina Puzriakova Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, OMIM:212093; Cardiomyopathy; Congenital heart malformations to Cardiac valvular dysplasia 1, OMIM:212093; Congenital heart malformations
Fetal anomalies v6.101 PLD1 Arina Puzriakova edited their review of gene: PLD1: Added comment: Additional cases reported (not reviewed previously):

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

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

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

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

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

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

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).
Fetal anomalies v6.101 DISP1 Ida Ertmanska reviewed gene: DISP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38529886; Phenotypes: Holoprosencephaly 10, OMIM:621143; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.101 LINC01082 Ida Ertmanska edited their review of gene: LINC01082: Changed phenotypes to: Alveolar capillary dysplasia with misalignment of pulmonary veins
Fetal anomalies v6.101 LINC01081 Ida Ertmanska edited their review of gene: LINC01081: Changed phenotypes to: Alveolar capillary dysplasia with misalignment of pulmonary veins
Fetal anomalies v6.101 LINC01081 Achchuthan Shanmugasundram Tag cnv tag was added to gene: LINC01081.
Tag Q3_25_promote_green tag was added to gene: LINC01081.
Tag Q3_25_expert_review tag was added to gene: LINC01081.
Tag Q3_25_NHS_review tag was added to gene: LINC01081.
Fetal anomalies v6.101 LINC01081 Achchuthan Shanmugasundram Classified gene: LINC01081 as Amber List (moderate evidence)
Fetal anomalies v6.101 LINC01081 Achchuthan Shanmugasundram Gene: linc01081 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.100 LINC01081 Achchuthan Shanmugasundram Publications for gene: LINC01081 were set to PMID: 27071622; PMID: 27822317
Fetal anomalies v6.99 LINC01082 Achchuthan Shanmugasundram Tag cnv tag was added to gene: LINC01082.
Tag Q3_25_promote_green tag was added to gene: LINC01082.
Tag Q3_25_expert_review tag was added to gene: LINC01082.
Tag Q3_25_NHS_review tag was added to gene: LINC01082.
Fetal anomalies v6.99 LINC01082 Achchuthan Shanmugasundram Classified gene: LINC01082 as Amber List (moderate evidence)
Fetal anomalies v6.99 LINC01082 Achchuthan Shanmugasundram Gene: linc01082 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.98 LINC01082 Achchuthan Shanmugasundram Publications for gene: LINC01082 were set to PMID: 27071622; PMID: 27822317
Fetal anomalies v6.97 LINC01082 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01081 Ida Ertmanska reviewed gene: LINC01081: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23034409, 24842713, 27071622; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.97 RASA1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 10 October 2025.
Fetal anomalies v6.97 RASA1 Achchuthan Shanmugasundram Phenotypes for gene: RASA1 were changed from PARKES WEBER SYNDROME; CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION to Capillary malformation-arteriovenous malformation 1, OMIM:608354; capillary malformation-arteriovenous malformation 1, MONDO:0020783
Fetal anomalies v6.96 SLC46A1 Arina Puzriakova Phenotypes for gene: SLC46A1 were changed from HEREDITARY FOLATE MALABSORPTION to Folate malabsorption, hereditary, OMIM:229050
Fetal anomalies v6.95 DLD Arina Puzriakova Phenotypes for gene: DLD were changed from DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY; LEIGH SYNDROME to Dihydrolipoamide dehydrogenase deficiency, OMIM:246900
Fetal anomalies v6.94 SIK3 Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 8th October 2025
Fetal anomalies v6.94 SIK3 Eleanor Williams Phenotypes for gene: SIK3 were changed from Spondyloepimetaphyseal dysplasia, Krakow type, 618162 to ?Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162; spondyloepimetaphyseal dysplasia, Krakow type, MONDO:0032571
Fetal anomalies v6.93 DST Eleanor Williams Publications for gene: DST were set to 37431644; 40497796; 35942699
Fetal anomalies v6.92 DST Eleanor Williams Phenotypes for gene: DST were changed from Arthrogryposis multiplex congenita to Arthrogryposis multiplex congenita, MONDO:0015168; arthrogryposis, MONDO:0859248; cardiomyopathy, MONDO:0004994; congenital myopathy, MONDO:0019952
Fetal anomalies v6.91 DST Eleanor Williams Publications for gene: DST were set to 37431644
Fetal anomalies v6.90 DST Eleanor Williams reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: 40497796, 35942699; Phenotypes: arthrogryposis, MONDO:0859248, cardiomyopathy, MONDO:0004994, congenital myopathy, MONDO:0019952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.90 EMX2 Ida Ertmanska commented on gene: EMX2: Comment on list classification: There are at least 4 unrelated families where individuals harbouring de novo variants in EMX2 have schizencephaly - a rare severe brain malformation, leading to neurologic deficits and developmental delay (PMIDs: 8528262, 9153481, 9359037). However, the 1996-1997 studies are limited by their sequencing method (targeted gene sequencing). Subsequent studies of 3 different schizencephaly patient cohorts showed that none of the 175 affected individuals carried pathogenic EMX2 mutations (PMIDs: 17506092, 18409201, 20157829).
No other schizencephaly cases with EMX2 variants were published in literature since 1997. Other genes, such as SIX3 and SHH, have been putatively linked to schizencephaly (PMID: 20157829). Furthermore, schizencephaly may stem from non-genetic causes, such as in utero viral infections, teratogen exposure, maternal trauma, and more (PMID: 18409201). Due to outdated / conflicting evidence, this gene should be downgraded to Amber for Fetal anomalies.
Fetal anomalies v6.90 EMX2 Ida Ertmanska reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 8528262, 9153481, 9359037, 17506092, 18409201, 20157829; Phenotypes: Schizencephaly, OMIM:269160, schizencephaly, MONDO:0010011; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.90 ERCC1 Arina Puzriakova Phenotypes for gene: ERCC1 were changed from CEREBROOCULOFACIOSKELETAL SYNDROME 4; FANCONI ANEMIA to Cerebrooculofacioskeletal syndrome 4, OMIM:610758
Fetal anomalies v6.89 EMX2 Eleanor Williams Tag Q3_25_expert_review tag was added to gene: EMX2.
Fetal anomalies v6.89 EMX2 Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 29th September 2025
Fetal anomalies v6.89 EMX2 Eleanor Williams Phenotypes for gene: EMX2 were changed from Schizencephaly, 269160 to Schizencephaly, OMIM:269160; schizencephaly, MONDO:0010011
Fetal anomalies v6.88 EMX2 Eleanor Williams Publications for gene: EMX2 were set to
Fetal anomalies v6.87 EMX2 Eleanor Williams Tag Q3_25_demote_amber tag was added to gene: EMX2.
Fetal anomalies v6.87 VSX2 Arina Puzriakova Phenotypes for gene: VSX2 were changed from MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES; MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3; MICROPHTHALMIA ISOLATED TYPE 2 to Microphthalmia, isolated 2, OMIM:610093; Microphthalmia/coloboma 3, OMIM:610092
Fetal anomalies v6.86 PDE12 Arina Puzriakova Tag Q3_25_promote_green was removed from gene: PDE12.
Tag Q3_25_expert_review was removed from gene: PDE12.
Fetal anomalies v6.86 PDE12 Arina Puzriakova commented on gene: PDE12: Maintaining Amber rating following further consultation with the expert group - The concern is that the two prenatal presentations are very different. There is no link between brain anomalies and hydrops. The panel want to see more evidence that the gene is causing a prenatal phenotype and there is not another cause of these abnormalities in these families.
Fetal anomalies v6.86 NDUFB7 Arina Puzriakova Phenotypes for gene: NDUFB7 were changed from Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135; Mitochondrial complex I deficiency, nuclear type 39 to Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Fetal anomalies v6.85 NDUFB7 Arina Puzriakova Tag Q1_25_ expert_review was removed from gene: NDUFB7.
Tag Q3_25_NHS_review tag was added to gene: NDUFB7.
Fetal anomalies v6.85 NDUFB7 Arina Puzriakova commented on gene: NDUFB7: Following further consultation with the expert group, it was decided that this gene should be rated Green on this panel as there is sufficient evidence to support an association with a prenatal phenotype.
Fetal anomalies v6.85 FLII Arina Puzriakova Tag Q3_25_promote_green was removed from gene: FLII.
Tag Q3_25_expert_review was removed from gene: FLII.
Tag Q3_25_NHS_review was removed from gene: FLII.
Fetal anomalies v6.85 FLII Arina Puzriakova commented on gene: FLII: Maintaining as Amber following further consultation with the expert group - this gene causes isolated cardiac anomalies which is not an indication for R21 fetal anomaly testing. However, we do want to monitor in case of new reports where it is not isolated.
Fetal anomalies v6.85 CCT6A Arina Puzriakova Tag gene-checked tag was added to gene: CCT6A.
Fetal anomalies v6.85 EVC2 Arina Puzriakova Tag Q3_25_MOI tag was added to gene: EVC2.
Fetal anomalies v6.85 CTGF Arina Puzriakova Phenotypes for gene: CTGF were changed from kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510 to Kyphomelic dysplasia, OMIM:211350; kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510
Fetal anomalies v6.84 EVC2 Eleanor Williams Publications for gene: EVC2 were set to
Fetal anomalies v6.83 EVC2 Eleanor Williams Added comment: Comment on phenotypes: Phenotypes accessed in OMIM on 22nd September 2025
Fetal anomalies v6.83 EVC2 Eleanor Williams Phenotypes for gene: EVC2 were changed from ELLIS-VAN CREVELD SYNDROME; ACROFACIAL DYSOSTOSIS WEYERS TYPE to Ellis-van Creveld syndrome, OMIM:225500 Weyers acrofacial dysostosis, OMIM:193530
Fetal anomalies v6.82 FLII Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: FLII.
Tag Q3_25_expert_review tag was added to gene: FLII.
Tag Q3_25_NHS_review tag was added to gene: FLII.
Fetal anomalies v6.82 FLII Arina Puzriakova changed review comment from: New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.; to: New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional review as this rating contradicts the review comment "Sufficient evidence for gene-disease association and may present prenatally with structural heart defects in some cases" and this gene is tagged for promotion to Green on the R135 Paediatric or syndromic cardiomyopathy panel.
Fetal anomalies v6.82 SIRT6 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: SIRT6.
Tag Q2_25_expert_review was removed from gene: SIRT6.
Fetal anomalies v6.82 C14orf80 Arina Puzriakova commented on gene: C14orf80: Added new-gene-name tag as the latest HGNC symbol for C14orf80 is TEDC1
Fetal anomalies v6.82 C14orf80 Arina Puzriakova Tag new-gene-name tag was added to gene: C14orf80.
Fetal anomalies v6.82 PDE12 Arina Puzriakova Tag Q3_25_expert_review tag was added to gene: PDE12.
Fetal anomalies v6.82 PDE12 Arina Puzriakova changed review comment from: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; to: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional expert review to resolve conflicting reviews - first reviewed as Green by Achchuthan Shanmugasundram but then as Amber by Alice Gardham based on the same evidence.
Fetal anomalies v6.82 NDUFB7 Arina Puzriakova edited their review of gene: NDUFB7: Changed rating: GREEN
Fetal anomalies v6.82 NDUFB7 Arina Puzriakova changed review comment from: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; to: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional expert review to resolve conflicting reviews - first reviewed as Green by me but then as Amber by Vicki Harrison based on the same evidence.
Fetal anomalies v6.82 ITGAV Arina Puzriakova changed review comment from: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; to: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.

Previously curated as Amber as only one family had fetal cases reported on; however as noted in Natalie Canham review, all affected individuals have brain anomalies which could be detected prenatally. Therefore this gene can be rated Green.
Fetal anomalies v6.82 FAAP100 Arina Puzriakova Phenotypes for gene: FAAP100 were changed from Fanconi anemia to Fanconi anemia, complementation group X, OMIM:621258
Fetal anomalies v6.81 FAAP100 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: FAAP100.
Tag Q3_25_NHS_review tag was added to gene: FAAP100.
Fetal anomalies v6.81 BORCS5 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: BORCS5.
Tag Q3_25_NHS_review tag was added to gene: BORCS5.
Fetal anomalies v6.81 MAGED2 Arina Puzriakova Phenotypes for gene: MAGED2 were changed from Bartter syndrome, type 5, antenatal, transient to Bartter syndrome, type 5, antenatal, transient, OMIM:300971
Fetal anomalies v6.80 MAGED2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: MAGED2.
Tag Q3_25_NHS_review tag was added to gene: MAGED2.
Fetal anomalies v6.80 ZEB1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ZEB1.
Tag Q3_25_NHS_review tag was added to gene: ZEB1.
Fetal anomalies v6.80 WDR47 Arina Puzriakova Phenotypes for gene: WDR47 were changed from Complex neurodevelopmental disorder to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.79 WDR47 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: WDR47.
Tag Q3_25_NHS_review tag was added to gene: WDR47.
Fetal anomalies v6.79 UNC13D Arina Puzriakova Phenotypes for gene: UNC13D were changed from Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898; Hemophagocytic lymphohistiocytosis, familial, 3 to Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898
Fetal anomalies v6.78 UNC13D Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: UNC13D.
Tag Q3_25_NHS_review tag was added to gene: UNC13D.
Fetal anomalies v6.78 TCP1 Arina Puzriakova Phenotypes for gene: TCP1 were changed from Intellectual developmental disorder with polymicrogyria and seizures to Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021
Fetal anomalies v6.77 TCP1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: TCP1.
Tag Q3_25_NHS_review tag was added to gene: TCP1.
Fetal anomalies v6.77 STX5 Arina Puzriakova Phenotypes for gene: STX5 were changed from ?Congenital disorder of glycosylation, type IIaa, OMIM:620454; Congenital disorder of glycosylation, type IIaa to Congenital disorder of glycosylation, type IIaa, OMIM:620454
Fetal anomalies v6.76 STX5 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: STX5.
Tag Q3_25_NHS_review tag was added to gene: STX5.
Fetal anomalies v6.76 SRPK3 Arina Puzriakova Phenotypes for gene: SRPK3 were changed from X-linked intellectual developmental disorder-114 to Intellectual developmental disorder, X-linked 114, OMIM:301134
Fetal anomalies v6.75 SRPK3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SRPK3.
Tag Q3_25_NHS_review tag was added to gene: SRPK3.
Fetal anomalies v6.75 SPTA1 Arina Puzriakova Tag watchlist was removed from gene: SPTA1.
Tag Q3_25_promote_green tag was added to gene: SPTA1.
Tag Q3_25_NHS_review tag was added to gene: SPTA1.
Fetal anomalies v6.75 SPOUT1 Arina Puzriakova Phenotypes for gene: SPOUT1 were changed from Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities to Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
Fetal anomalies v6.74 SPOUT1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SPOUT1.
Tag Q3_25_NHS_review tag was added to gene: SPOUT1.
Fetal anomalies v6.74 SLC35A3 Arina Puzriakova Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures, OMIM:615553 to Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
Fetal anomalies v6.73 SLC35A3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SLC35A3.
Tag Q3_25_NHS_review tag was added to gene: SLC35A3.
Fetal anomalies v6.73 SLC12A9 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SLC12A9.
Tag Q3_25_NHS_review tag was added to gene: SLC12A9.
Fetal anomalies v6.73 SENP7 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SENP7.
Tag Q3_25_NHS_review tag was added to gene: SENP7.
Fetal anomalies v6.73 RPL26 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RPL26.
Tag Q3_25_NHS_review tag was added to gene: RPL26.
Fetal anomalies v6.73 RNU5B-1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RNU5B-1.
Tag Q3_25_NHS_review tag was added to gene: RNU5B-1.
Fetal anomalies v6.73 RIPPLY2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RIPPLY2.
Tag Q3_25_NHS_review tag was added to gene: RIPPLY2.
Fetal anomalies v6.73 RAB11B Arina Puzriakova Phenotypes for gene: RAB11B were changed from Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter; Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807
Fetal anomalies v6.72 RAB11B Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RAB11B.
Tag Q3_25_NHS_review tag was added to gene: RAB11B.
Fetal anomalies v6.72 PUS3 Arina Puzriakova Phenotypes for gene: PUS3 were changed from Neurodevelopmental disorder with microcephaly and gray sclerae to Neurodevelopmental disorder with microcephaly and gray sclerae, OMIM:617051
Fetal anomalies v6.71 PUS3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PUS3.
Tag Q3_25_NHS_review tag was added to gene: PUS3.
Fetal anomalies v6.71 PTEN Arina Puzriakova Phenotypes for gene: PTEN were changed from COWDEN DISEASE; Cowden syndrome 1; LHERMITTE-DUCLOS DISEASE; PROTEUS SYNDROME; MACROCEPHALY/AUTISM SYNDROME; BANNAYAN-ZONANA SYNDROME; VACTERL ASSOCIATION WITH HYDROCEPHALUS to Cowden syndrome 1, OMIM:158350
Fetal anomalies v6.70 PTEN Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PTEN.
Tag Q3_25_NHS_review tag was added to gene: PTEN.
Fetal anomalies v6.70 PSKH1 Arina Puzriakova Phenotypes for gene: PSKH1 were changed from hepatorenal syndrome, MONDO:0001382 to Cholestasis, progressive familial intrahepatic, 13, OMIM:620962
Fetal anomalies v6.69 PSKH1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PSKH1.
Tag Q3_25_NHS_review tag was added to gene: PSKH1.
Fetal anomalies v6.69 PPFIBP1 Arina Puzriakova Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
Fetal anomalies v6.68 PPFIBP1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PPFIBP1.
Tag Q3_25_NHS_review tag was added to gene: PPFIBP1.
Fetal anomalies v6.68 PPFIA3 Arina Puzriakova Phenotypes for gene: PPFIA3 were changed from Paul-Chao neurodevelopmental syndrome to Paul-Chao neurodevelopmental syndrome, OMIM:621122
Fetal anomalies v6.67 PPFIA3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PPFIA3.
Tag Q3_25_NHS_review tag was added to gene: PPFIA3.
Fetal anomalies v6.67 PLAA Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PLAA.
Tag Q3_25_NHS_review tag was added to gene: PLAA.
Fetal anomalies v6.67 PIGW Arina Puzriakova Phenotypes for gene: PIGW were changed from Glycosylphosphatidylinositol biosynthesis defect 11 to Glycosylphosphatidylinositol biosynthesis defect 11, OMIM:616025
Fetal anomalies v6.66 PIGW Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PIGW.
Tag Q3_25_NHS_review tag was added to gene: PIGW.
Fetal anomalies v6.66 PIGP Arina Puzriakova Phenotypes for gene: PIGP were changed from Developmental and epileptic encephalopathy 55 to Developmental and epileptic encephalopathy 55, OMIM:617599
Fetal anomalies v6.65 PIGP Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PIGP.
Tag Q3_25_NHS_review tag was added to gene: PIGP.
Fetal anomalies v6.65 PIGG Arina Puzriakova Phenotypes for gene: PIGG were changed from Intellectual Disability with Seizures and Hypotonia; Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917; Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917
Fetal anomalies v6.64 PIGG Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PIGG.
Tag Q3_25_NHS_review tag was added to gene: PIGG.
Fetal anomalies v6.64 PI4KA Arina Puzriakova Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Fetal anomalies v6.63 PI4KA Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PI4KA.
Tag Q3_25_NHS_review tag was added to gene: PI4KA.
Fetal anomalies v6.63 PHF5A Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PHF5A.
Tag Q3_25_NHS_review tag was added to gene: PHF5A.
Fetal anomalies v6.63 PAK2 Arina Puzriakova Phenotypes for gene: PAK2 were changed from Knobloch syndrome 2 to Knobloch syndrome 2, OMIM:618458
Fetal anomalies v6.62 PAK2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PAK2.
Tag Q3_25_NHS_review tag was added to gene: PAK2.
Fetal anomalies v6.62 PAICS Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PAICS.
Tag Q3_25_NHS_review tag was added to gene: PAICS.
Fetal anomalies v6.62 ODC1 Arina Puzriakova Phenotypes for gene: ODC1 were changed from Bachmann-Bupp syndrome to Bachmann-Bupp syndrome, OMIM:619075
Fetal anomalies v6.61 ODC1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ODC1.
Tag Q3_25_NHS_review tag was added to gene: ODC1.
Fetal anomalies v6.61 NR2F1 Arina Puzriakova Phenotypes for gene: NR2F1 were changed from BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME; Bosch-Boonstra-Schaaf optic atrophy syndrome to Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722
Fetal anomalies v6.60 NR2F1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: NR2F1.
Tag Q3_25_NHS_review tag was added to gene: NR2F1.
Fetal anomalies v6.60 NEXN Arina Puzriakova Tag watchlist was removed from gene: NEXN.
Tag Q3_25_promote_green tag was added to gene: NEXN.
Tag Q3_25_NHS_review tag was added to gene: NEXN.
Fetal anomalies v6.60 NEPRO Arina Puzriakova commented on gene: NEPRO: The 'new-gene-name' tag has been added to this gene as the latest HGNC gene symbol for NEPRO is RMP64.
Fetal anomalies v6.60 NEPRO Arina Puzriakova Tag new-gene-name tag was added to gene: NEPRO.
Tag Q3_25_promote_green tag was added to gene: NEPRO.
Tag Q3_25_NHS_review tag was added to gene: NEPRO.
Fetal anomalies v6.60 MSL2 Arina Puzriakova Phenotypes for gene: MSL2 were changed from Karayol-Borroto-Haghshenas neurodevelopmental syndrome to Karayol-Borroto-Haghshenas neurodevelopmental syndrome, OMIM:620985
Fetal anomalies v6.59 MIA3 Arina Puzriakova Tag Q3_25_NHS_review tag was added to gene: MIA3.
Fetal anomalies v6.59 MSL2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: MSL2.
Tag Q3_25_NHS_review tag was added to gene: MSL2.
Fetal anomalies v6.59 MIA3 Arina Puzriakova Phenotypes for gene: MIA3 were changed from Odontochondrodysplasia-2 with hearing loss and diabetes to Ondontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
Fetal anomalies v6.58 MIA3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: MIA3.
Fetal anomalies v6.58 MED11 Arina Puzriakova Phenotypes for gene: MED11 were changed from Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327
Fetal anomalies v6.57 MED11 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: MED11.
Tag Q3_25_NHS_review tag was added to gene: MED11.
Fetal anomalies v6.57 MAPK1 Arina Puzriakova Phenotypes for gene: MAPK1 were changed from Noonan syndrome 13; Noonan syndrome 13, OMIM:619087 to Noonan syndrome 13, OMIM:619087
Fetal anomalies v6.56 MAPK1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: MAPK1.
Tag Q3_25_NHS_review tag was added to gene: MAPK1.
Fetal anomalies v6.56 LSS Arina Puzriakova Phenotypes for gene: LSS were changed from Cataract 44; Alopecia-intellectual disability syndrome 4 to Alopecia-intellectual disability syndrome 4, OMIM:618840; Cataract 44, OMIM:616509
Fetal anomalies v6.55 LSS Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: LSS.
Tag Q3_25_NHS_review tag was added to gene: LSS.
Fetal anomalies v6.55 LGI3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: LGI3.
Tag Q3_25_NHS_review tag was added to gene: LGI3.
Fetal anomalies v6.55 LDB1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: LDB1.
Tag Q3_25_NHS_review tag was added to gene: LDB1.
Fetal anomalies v6.55 LAGE3 Arina Puzriakova Phenotypes for gene: LAGE3 were changed from Galloway-Mowat syndrome 2, X-linked; Galloway-Mowat syndrome 2, X-linked, OMIM:301006 to Galloway-Mowat syndrome 2, X-linked, OMIM:301006
Fetal anomalies v6.54 LAGE3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: LAGE3.
Tag Q3_25_NHS_review tag was added to gene: LAGE3.
Fetal anomalies v6.54 C12orf66 Arina Puzriakova commented on gene: C12orf66: Added new-gene-name tag, new approved HGNC gene symbol for C12orf66 is KICS2
Fetal anomalies v6.54 C12orf66 Arina Puzriakova Tag new-gene-name tag was added to gene: C12orf66.
Tag Q3_25_promote_green tag was added to gene: C12orf66.
Tag Q3_25_NHS_review tag was added to gene: C12orf66.
Fetal anomalies v6.54 C12orf66 Arina Puzriakova Phenotypes for gene: C12orf66 were changed from Intellectual developmental disorder, autosomal recessive 83 to Intellectual developmental disorder, autosomal recessive 83, OMIM:621100
Fetal anomalies v6.53 ITGAV Arina Puzriakova Phenotypes for gene: ITGAV were changed from syndromic disease, MONDO:0002254; Syndromic disease, MONDO:0002254 to Syndromic disease, MONDO:0002254
Fetal anomalies v6.52 ITGAV Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ITGAV.
Tag Q3_25_NHS_review tag was added to gene: ITGAV.
Fetal anomalies v6.52 IFT27 Arina Puzriakova Phenotypes for gene: IFT27 were changed from Bardet-Biedl syndrome 19, OMIM:615996; Bardet-Biedl syndrome 19 to Bardet-Biedl syndrome 19, OMIM:615996
Fetal anomalies v6.51 IFT27 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: IFT27.
Tag Q3_25_NHS_review tag was added to gene: IFT27.
Fetal anomalies v6.51 HNRNPU Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: HNRNPU.
Tag Q3_25_NHS_review tag was added to gene: HNRNPU.
Fetal anomalies v6.51 HNRNPU Arina Puzriakova Phenotypes for gene: HNRNPU were changed from EPILEPTIC ENCEPHALOPATHY; Developmental and epileptic encephalopathy 54 to Developmental and epileptic encephalopathy 54, OMIM:617391
Fetal anomalies v6.50 HDAC3 Arina Puzriakova Phenotypes for gene: HDAC3 were changed from HDAC3-related neurodevelopmental disorder to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.49 HDAC3 Arina Puzriakova Tag gene-checked tag was added to gene: HDAC3.
Fetal anomalies v6.49 HDAC3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: HDAC3.
Tag Q3_25_NHS_review tag was added to gene: HDAC3.
Fetal anomalies v6.49 GNAI2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: GNAI2.
Tag Q3_25_NHS_review tag was added to gene: GNAI2.
Fetal anomalies v6.49 GEMIN4 Arina Puzriakova Phenotypes for gene: GEMIN4 were changed from Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913
Fetal anomalies v6.48 GEMIN4 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: GEMIN4.
Tag Q3_25_NHS_review tag was added to gene: GEMIN4.
Fetal anomalies v6.48 GALT Arina Puzriakova Phenotypes for gene: GALT were changed from Galactosemia; GALACTOSEMIA to Galactosemia, OMIM:230400
Fetal anomalies v6.47 GALT Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: GALT.
Tag Q3_25_NHS_review tag was added to gene: GALT.
Fetal anomalies v6.47 EXOSC8 Arina Puzriakova Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081; Pontocerebellar hypoplasia type 1C to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Fetal anomalies v6.46 EXOSC8 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: EXOSC8.
Tag Q3_25_NHS_review tag was added to gene: EXOSC8.
Fetal anomalies v6.46 EXOC6B Arina Puzriakova Phenotypes for gene: EXOC6B were changed from Spondyloepimetaphyseal dysplasia with joint laxity, type 3 to Spondyloepimetaphyseal dysplasia with joint laxity, type 3, OMIM:618395
Fetal anomalies v6.45 EXOC6B Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: EXOC6B.
Tag Q3_25_NHS_review tag was added to gene: EXOC6B.
Fetal anomalies v6.45 EFL1 Arina Puzriakova Phenotypes for gene: EFL1 were changed from Shwachman-Diamond syndrome 2 to Shwachman-Diamond syndrome 2, OMIM:617941
Fetal anomalies v6.44 EFL1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: EFL1.
Tag Q3_25_NHS_review tag was added to gene: EFL1.
Fetal anomalies v6.44 EEFSEC Arina Puzriakova Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder with progressive spasticity and brain abnormalities to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, OMIM:621102
Fetal anomalies v6.43 EEFSEC Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: EEFSEC.
Tag Q3_25_NHS_review tag was added to gene: EEFSEC.
Fetal anomalies v6.43 DST Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: DST.
Tag Q3_25_NHS_review tag was added to gene: DST.
Fetal anomalies v6.43 DSE Arina Puzriakova Phenotypes for gene: DSE were changed from Ehlers-Danlos syndrome, musculocontractural type 2 to Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539
Fetal anomalies v6.42 DSE Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: DSE.
Tag Q3_25_NHS_review tag was added to gene: DSE.
Fetal anomalies v6.42 DHX9 Arina Puzriakova Phenotypes for gene: DHX9 were changed from Intellectual developmental disorder, autosomal dominant 75 to Intellectual developmental disorder, autosomal dominant 75, OMIM:620988
Fetal anomalies v6.41 DHX9 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: DHX9.
Tag Q3_25_NHS_review tag was added to gene: DHX9.
Fetal anomalies v6.41 DHRSX Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: DHRSX.
Tag Q3_25_NHS_review tag was added to gene: DHRSX.
Fetal anomalies v6.41 COQ2 Arina Puzriakova Phenotypes for gene: COQ2 were changed from COENZYME Q10 DEFICIENCY; Coenzyme Q10 deficiency, primary, 1 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Fetal anomalies v6.40 COQ2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: COQ2.
Tag Q3_25_NHS_review tag was added to gene: COQ2.
Fetal anomalies v6.40 COMP Arina Puzriakova Phenotypes for gene: COMP were changed from Pseudoachondroplasia; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1; Epiphyseal dysplasia, multiple, 1; ARE THE CAUSE OF PSEUDOACHONDROPLASIA to Epiphyseal dysplasia, multiple, 1, OMIM:132400; Pseudoachondroplasia, OMIM:177170
Fetal anomalies v6.39 COMP Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: COMP.
Tag Q3_25_NHS_review tag was added to gene: COMP.
Fetal anomalies v6.39 COL25A1 Arina Puzriakova Phenotypes for gene: COL25A1 were changed from Arthrogryposis multiplex congenita, MONDO:0015168; Arthrogryposis multiplex congenita to Arthrogryposis multiplex congenita, MONDO:0015168
Fetal anomalies v6.38 COL25A1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: COL25A1.
Tag Q3_25_NHS_review tag was added to gene: COL25A1.
Fetal anomalies v6.38 C1orf127 Arina Puzriakova Phenotypes for gene: C1orf127 were changed from Heterotaxy, visceral, 14, autosomal; Heterotaxy, visceral, 14, autosomal, OMIM:621080 to Heterotaxy, visceral, 14, autosomal, OMIM:621080
Fetal anomalies v6.37 CELSR1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: CELSR1.
Tag Q3_25_NHS_review tag was added to gene: CELSR1.
Fetal anomalies v6.37 CELSR1 Arina Puzriakova Phenotypes for gene: CELSR1 were changed from Lymphatic malformation 9, OMIM:619319; Lymphatic malformation-9 to Lymphatic malformation 9, OMIM:619319
Fetal anomalies v6.36 CDK5 Arina Puzriakova Phenotypes for gene: CDK5 were changed from Lissencephaly 7 with cerebellar hypoplasia to Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342
Fetal anomalies v6.35 CDK5 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: CDK5.
Tag Q3_25_NHS_review tag was added to gene: CDK5.
Fetal anomalies v6.35 CTGF Arina Puzriakova Phenotypes for gene: CTGF were changed from Kyphomelic dysplasia to kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510
Fetal anomalies v6.34 CTGF Arina Puzriakova Tag new-gene-name tag was added to gene: CTGF.
Tag Q3_25_promote_green tag was added to gene: CTGF.
Tag Q3_25_NHS_review tag was added to gene: CTGF.
Fetal anomalies v6.34 BHLHE22 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: BHLHE22.
Tag Q3_25_NHS_review tag was added to gene: BHLHE22.
Fetal anomalies v6.34 ARL6IP1 Arina Puzriakova Tag Q3_24_NHS_review tag was added to gene: ARL6IP1.
Tag Q3_25_promote_green tag was added to gene: ARL6IP1.
Fetal anomalies v6.34 ARL2BP Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ARL2BP.
Tag Q3_25_NHS_review tag was added to gene: ARL2BP.
Fetal anomalies v6.34 ARL2BP Arina Puzriakova Phenotypes for gene: ARL2BP were changed from Situs Inversus to Retinitis pigmentosa 82 with or without situs inversus, OMIM:615434; Situs Inversus
Fetal anomalies v6.33 AGT Arina Puzriakova Phenotypes for gene: AGT were changed from Renal tubular dysgenesis, OMIM:267430; Renal tubular dysgenesis to Renal tubular dysgenesis, OMIM:267430
Fetal anomalies v6.32 AGT Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: AGT.
Tag Q3_25_NHS_review tag was added to gene: AGT.
Fetal anomalies v6.32 AGRN Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: AGRN.
Tag Q3_25_NHS_review tag was added to gene: AGRN.
Fetal anomalies v6.32 AGRN Arina Puzriakova Phenotypes for gene: AGRN were changed from Fetal akinesia deformation sequence, MONDO:0008824; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects to Fetal akinesia deformation sequence, MONDO:0008824; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120
Fetal anomalies v6.31 NODAL Arina Puzriakova Phenotypes for gene: NODAL were changed from Heterotaxy, visceral, 5; HETEROTAXY SYNDROME to Heterotaxy, visceral, 5, OMIM:270100
Fetal anomalies v6.30 NODAL Arina Puzriakova Tag Q3_25_NHS_review tag was added to gene: NODAL.
Tag Q3_25_demote_red tag was added to gene: NODAL.
Fetal anomalies v6.30 MYH9 Arina Puzriakova Phenotypes for gene: MYH9 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 17; MAY-HEGGLIN ANOMALY; SEBASTIAN SYNDROME; FECHTNER SYNDROME; EPSTEIN SYNDROME; Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS to Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Fetal anomalies v6.29 MYH9 Arina Puzriakova Tag Q3_25_NHS_review tag was added to gene: MYH9.
Tag Q3_25_demote_red tag was added to gene: MYH9.
Fetal anomalies v6.29 GNS Arina Puzriakova Tag Q3_25_NHS_review tag was added to gene: GNS.
Tag Q3_25_demote_amber tag was added to gene: GNS.
Fetal anomalies v6.29 CDH11 Arina Puzriakova reviewed gene: CDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FAAP100 Arina Puzriakova reviewed gene: FAAP100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BORCS5 Arina Puzriakova reviewed gene: BORCS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAGED2 Arina Puzriakova reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZNRF3 Arina Puzriakova reviewed gene: ZNRF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZNHIT3 Arina Puzriakova reviewed gene: ZNHIT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZNF808 Arina Puzriakova reviewed gene: ZNF808: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZMYND11 Arina Puzriakova reviewed gene: ZMYND11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZEB1 Arina Puzriakova reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 WDR47 Arina Puzriakova reviewed gene: WDR47: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 UNC50 Arina Puzriakova reviewed gene: UNC50: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 UNC13D Arina Puzriakova edited their review of gene: UNC13D: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN
Fetal anomalies v6.29 TPM1 Arina Puzriakova reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 C14orf80 Arina Puzriakova reviewed gene: C14orf80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 TCP1 Arina Puzriakova reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 TCF20 Arina Puzriakova reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 TAAR1 Arina Puzriakova reviewed gene: TAAR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SUPT7L Arina Puzriakova reviewed gene: SUPT7L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 STXBP2 Arina Puzriakova reviewed gene: STXBP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 STX5 Arina Puzriakova reviewed gene: STX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 STX11 Arina Puzriakova reviewed gene: STX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SRPK3 Arina Puzriakova reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SRP54 Arina Puzriakova reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SPTA1 Arina Puzriakova edited their review of gene: SPTA1: Added comment: Upgraded from Red to Amber but there is sufficient evidence to make Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' as per the review.; Changed rating: GREEN
Fetal anomalies v6.29 SPOUT1 Arina Puzriakova reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SNAPC4 Arina Puzriakova reviewed gene: SNAPC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SLC35A3 Arina Puzriakova reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SLC30A5 Arina Puzriakova reviewed gene: SLC30A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SLC19A1 Arina Puzriakova reviewed gene: SLC19A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SLC12A9 Arina Puzriakova reviewed gene: SLC12A9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SIRT6 Arina Puzriakova reviewed gene: SIRT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SENP7 Arina Puzriakova reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SEL1L Arina Puzriakova reviewed gene: SEL1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RPL26 Arina Puzriakova reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RNU5B-1 Arina Puzriakova reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RNU5A-1 Arina Puzriakova reviewed gene: RNU5A-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RNF31 Arina Puzriakova reviewed gene: RNF31: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RIPPLY2 Arina Puzriakova reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RBFOX2 Arina Puzriakova reviewed gene: RBFOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RAB11B Arina Puzriakova reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PYGL Arina Puzriakova reviewed gene: PYGL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PUS3 Arina Puzriakova reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PURA Arina Puzriakova reviewed gene: PURA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PTEN Arina Puzriakova reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PSKH1 Arina Puzriakova reviewed gene: PSKH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PROC Arina Puzriakova reviewed gene: PROC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PPFIBP1 Arina Puzriakova reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PPFIA3 Arina Puzriakova reviewed gene: PPFIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 POU3F3 Arina Puzriakova reviewed gene: POU3F3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PLVAP Arina Puzriakova reviewed gene: PLVAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PLAA Arina Puzriakova reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGW Arina Puzriakova reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGQ Arina Puzriakova reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGP Arina Puzriakova reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGM Arina Puzriakova reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGG Arina Puzriakova reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGC Arina Puzriakova reviewed gene: PIGC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PI4KA Arina Puzriakova reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PHF5A Arina Puzriakova reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PDE12 Arina Puzriakova reviewed gene: PDE12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PDCD2 Arina Puzriakova reviewed gene: PDCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PAK2 Arina Puzriakova reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PAICS Arina Puzriakova reviewed gene: PAICS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 OSBPL9 Arina Puzriakova reviewed gene: OSBPL9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ODC1 Arina Puzriakova reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NUP214 Arina Puzriakova reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NT5E Arina Puzriakova reviewed gene: NT5E: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NR2F1 Arina Puzriakova reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NODAL Arina Puzriakova reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NMNAT1 Arina Puzriakova reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NKX2-6 Arina Puzriakova reviewed gene: NKX2-6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NFASC Arina Puzriakova reviewed gene: NFASC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NEXN Arina Puzriakova edited their review of gene: NEXN: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' as per the review.; Changed rating: GREEN
Fetal anomalies v6.29 NEUROD1 Arina Puzriakova reviewed gene: NEUROD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NEPRO Arina Puzriakova reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NDUFB7 Arina Puzriakova edited their review of gene: NDUFB7: Added comment: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: AMBER
Fetal anomalies v6.29 NAGS Arina Puzriakova reviewed gene: NAGS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NAGLU Arina Puzriakova reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MYL2 Arina Puzriakova reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MYH9 Arina Puzriakova reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MSL2 Arina Puzriakova reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MPL Arina Puzriakova reviewed gene: MPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MIA3 Arina Puzriakova reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MET Arina Puzriakova reviewed gene: MET: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MED11 Arina Puzriakova reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAPK1 Arina Puzriakova reviewed gene: MAPK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAP3K3 Arina Puzriakova reviewed gene: MAP3K3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAN2B2 Arina Puzriakova reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAL Arina Puzriakova reviewed gene: MAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LSS Arina Puzriakova reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LRRC8C Arina Puzriakova reviewed gene: LRRC8C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LIPN Arina Puzriakova reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LGI3 Arina Puzriakova reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LDB1 Arina Puzriakova reviewed gene: LDB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LAGE3 Arina Puzriakova reviewed gene: LAGE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KMT2E Arina Puzriakova reviewed gene: KMT2E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 C12orf66 Arina Puzriakova reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KDM6B Arina Puzriakova reviewed gene: KDM6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KDM1A Arina Puzriakova reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KCNH2 Arina Puzriakova reviewed gene: KCNH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KCNB1 Arina Puzriakova reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KBTBD2 Arina Puzriakova reviewed gene: KBTBD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KAT7 Arina Puzriakova reviewed gene: KAT7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 JPH1 Arina Puzriakova reviewed gene: JPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ITGAV Arina Puzriakova reviewed gene: ITGAV: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 IRF4 Arina Puzriakova reviewed gene: IRF4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 IFT27 Arina Puzriakova reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 HNRNPU Arina Puzriakova reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 HIRA Arina Puzriakova reviewed gene: HIRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 HECTD1 Arina Puzriakova reviewed gene: HECTD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 HDAC3 Arina Puzriakova reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GUK1 Arina Puzriakova reviewed gene: GUK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GTPBP1 Arina Puzriakova reviewed gene: GTPBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GNS Arina Puzriakova reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GNPNAT1 Arina Puzriakova reviewed gene: GNPNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GNAI2 Arina Puzriakova reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GEMIN4 Arina Puzriakova reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GDAP1 Arina Puzriakova reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GATA5 Arina Puzriakova reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GALT Arina Puzriakova reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 G6PD Arina Puzriakova reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FLVCR1 Arina Puzriakova reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FLII Arina Puzriakova reviewed gene: FLII: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FGG Arina Puzriakova reviewed gene: FGG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FBXW11 Arina Puzriakova reviewed gene: FBXW11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FBXO22 Arina Puzriakova reviewed gene: FBXO22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FAM177A1 Arina Puzriakova reviewed gene: FAM177A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 EXOSC8 Arina Puzriakova reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 EXOC6B Arina Puzriakova reviewed gene: EXOC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ERG Arina Puzriakova reviewed gene: ERG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 EFL1 Arina Puzriakova reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 EEFSEC Arina Puzriakova reviewed gene: EEFSEC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DVL2 Arina Puzriakova reviewed gene: DVL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DTNA Arina Puzriakova reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DST Arina Puzriakova reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DSE Arina Puzriakova reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DSC2 Arina Puzriakova reviewed gene: DSC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DOHH Arina Puzriakova reviewed gene: DOHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DNAJC21 Arina Puzriakova reviewed gene: DNAJC21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DHX9 Arina Puzriakova reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DHRSX Arina Puzriakova reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DDX17 Arina Puzriakova reviewed gene: DDX17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DAND5 Arina Puzriakova reviewed gene: DAND5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CYP24A1 Arina Puzriakova reviewed gene: CYP24A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 COQ2 Arina Puzriakova reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 COMP Arina Puzriakova reviewed gene: COMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 COL25A1 Arina Puzriakova reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 C1orf127 Arina Puzriakova commented on gene: C1orf127: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Fetal anomalies v6.29 CHAF1A Arina Puzriakova reviewed gene: CHAF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CFI Arina Puzriakova reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CELSR1 Arina Puzriakova edited their review of gene: CELSR1: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN
Fetal anomalies v6.29 CDK5 Arina Puzriakova reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CCT8 Arina Puzriakova reviewed gene: CCT8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CCT6A Arina Puzriakova reviewed gene: CCT6A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CCT3 Arina Puzriakova reviewed gene: CCT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CTGF Arina Puzriakova reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BRD2 Arina Puzriakova reviewed gene: BRD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BORCS8 Arina Puzriakova reviewed gene: BORCS8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BICRA Arina Puzriakova reviewed gene: BICRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BHLHE22 Arina Puzriakova reviewed gene: BHLHE22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BAIAP2 Arina Puzriakova reviewed gene: BAIAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ASCC3 Arina Puzriakova reviewed gene: ASCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ARPC5 Arina Puzriakova reviewed gene: ARPC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ARL6IP1 Arina Puzriakova reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ARL2BP Arina Puzriakova reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 AGT Arina Puzriakova edited their review of gene: AGT: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN
Fetal anomalies v6.29 AGRN Arina Puzriakova edited their review of gene: AGRN: Added comment: Upgraded from Red to Amber but there is sufficient evidence to make Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN
Fetal anomalies v6.29 ACTN2 Arina Puzriakova reviewed gene: ACTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ACO2 Arina Puzriakova edited their review of gene: ACO2: Added comment: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: AMBER
Fetal anomalies v6.28 CDH11 Natalie Chandler commented on gene: CDH11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FAAP100 Sarah Graham commented on gene: FAAP100: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BORCS5 Sarah Graham commented on gene: BORCS5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAGED2 Sarah Graham commented on gene: MAGED2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZNRF3 Sarah Graham commented on gene: ZNRF3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZNHIT3 Sarah Graham commented on gene: ZNHIT3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZNF808 Elizabeth Wall commented on gene: ZNF808: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZMYND11 Natalie Bibb commented on gene: ZMYND11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZEB1 Sarah Graham commented on gene: ZEB1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 WDR47 Sarah Graham commented on gene: WDR47: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 UNC50 Sarah Graham commented on gene: UNC50: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 UNC13D Anna de Burca commented on gene: UNC13D: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 TPM1 Alice Gardham commented on gene: TPM1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 C14orf80 Sunayna Best commented on gene: C14orf80: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 TCP1 Natalie Bibb commented on gene: TCP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 TCF20 Stephanie Allen commented on gene: TCF20: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 TAAR1 Sarah Graham commented on gene: TAAR1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SUPT7L Soo-Mi Park commented on gene: SUPT7L: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 STXBP2 Alice Gardham commented on gene: STXBP2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 STX5 Sahar Mansour commented on gene: STX5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 STX11 Vicki Harrison commented on gene: STX11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SRPK3 Sarah Graham commented on gene: SRPK3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SRP54 Stephanie Allen commented on gene: SRP54: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SPTA1 Sarah Graham commented on gene: SPTA1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SPOUT1 Sunayna Best commented on gene: SPOUT1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SNAPC4 Esther Kinning commented on gene: SNAPC4: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SLC35A3 Sunayna Best commented on gene: SLC35A3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SLC30A5 Natalie Chandler commented on gene: SLC30A5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SLC19A1 Soo-Mi Park commented on gene: SLC19A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SLC12A9 Sarah Graham commented on gene: SLC12A9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SIRT6 Natalie Canham commented on gene: SIRT6: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SENP7 Natalie Bibb commented on gene: SENP7: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SEL1L Anna de Burca commented on gene: SEL1L: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RPL26 Elizabeth Wall commented on gene: RPL26: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RNU5B-1 Natalie Chandler commented on gene: RNU5B-1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RNU5A-1 Natalie Chandler commented on gene: RNU5A-1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RNF31 Natalie Chandler commented on gene: RNF31: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RIPPLY2 Sahar Mansour commented on gene: RIPPLY2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RBFOX2 Anna de Burca commented on gene: RBFOX2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RAB11B Sahar Mansour commented on gene: RAB11B: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PYGL Soo-Mi Park commented on gene: PYGL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PUS3 Elizabeth Scotchman commented on gene: PUS3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PURA Natalie Canham commented on gene: PURA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PTEN Sunayna Best commented on gene: PTEN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PSKH1 Sarah Graham commented on gene: PSKH1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PROC Elizabeth Wall commented on gene: PROC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PPFIBP1 Stephanie Allen commented on gene: PPFIBP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PPFIA3 Stephanie Allen commented on gene: PPFIA3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 POU3F3 Natalie Chandler commented on gene: POU3F3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PLVAP Alice Gardham commented on gene: PLVAP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PLAA Stephanie Allen commented on gene: PLAA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGW Sahar Mansour commented on gene: PIGW: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGQ Esther Kinning commented on gene: PIGQ: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGP Elizabeth Wall commented on gene: PIGP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGM Elizabeth Scotchman commented on gene: PIGM: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGG Anna de Burca commented on gene: PIGG: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGC Alice Gardham commented on gene: PIGC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PI4KA Anna de Burca commented on gene: PI4KA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PHF5A Vicki Harrison commented on gene: PHF5A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PDE12 Alice Gardham commented on gene: PDE12: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PDCD2 Soo-Mi Park commented on gene: PDCD2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PAK2 Sarah Graham commented on gene: PAK2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PAICS Sunayna Best commented on gene: PAICS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 OSBPL9 Natalie Chandler commented on gene: OSBPL9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ODC1 Anna de Burca commented on gene: ODC1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NUP214 Stephanie Allen commented on gene: NUP214: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NT5E Natalie Chandler commented on gene: NT5E: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NR2F1 Soo-Mi Park commented on gene: NR2F1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NODAL Natalie Chandler commented on gene: NODAL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NMNAT1 Natalie Chandler commented on gene: NMNAT1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NKX2-6 Sunayna Best commented on gene: NKX2-6: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NFASC Natalie Bibb commented on gene: NFASC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NEXN Sarah Graham commented on gene: NEXN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NEUROD1 Soo-Mi Park commented on gene: NEUROD1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NEPRO Natalie Canham commented on gene: NEPRO: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NDUFB7 Vicki Harrison commented on gene: NDUFB7: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NAGS Elizabeth Wall commented on gene: NAGS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NAGLU Sarah Graham commented on gene: NAGLU: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MYL2 Vicki Harrison commented on gene: MYL2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MYH9 Natalie Chandler commented on gene: MYH9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MSL2 Natalie Chandler commented on gene: MSL2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MPL Elizabeth Scotchman commented on gene: MPL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MIA3 Sarah Graham commented on gene: MIA3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MET Stephanie Allen commented on gene: MET: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MED11 Soo-Mi Park commented on gene: MED11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAPK1 Sarah Graham commented on gene: MAPK1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAP3K3 Alice Gardham commented on gene: MAP3K3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAN2B2 Sarah Graham commented on gene: MAN2B2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAL Sahar Mansour commented on gene: MAL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LSS Natalie Chandler commented on gene: LSS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LRRC8C Vicki Harrison commented on gene: LRRC8C: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LIPN Stephanie Allen commented on gene: LIPN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LGI3 Soo-Mi Park commented on gene: LGI3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LDB1 Vicki Harrison commented on gene: LDB1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LAGE3 Natalie Chandler commented on gene: LAGE3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KMT2E Natalie Bibb commented on gene: KMT2E: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 C12orf66 Sahar Mansour commented on gene: C12orf66: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KDM6B Sunayna Best commented on gene: KDM6B: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KDM1A Esther Kinning commented on gene: KDM1A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KCNH2 Sahar Mansour commented on gene: KCNH2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KCNB1 Soo-Mi Park commented on gene: KCNB1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KBTBD2 Esther Kinning commented on gene: KBTBD2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KAT7 Natalie Chandler commented on gene: KAT7: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 JPH1 Sarah Graham commented on gene: JPH1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ITGAV Natalie Canham commented on gene: ITGAV: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 IRF4 Natalie Chandler commented on gene: IRF4: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 IFT27 Sahar Mansour commented on gene: IFT27: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 HNRNPU Sarah Graham commented on gene: HNRNPU: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 HIRA Sarah Graham commented on gene: HIRA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 HECTD1 Sarah Graham commented on gene: HECTD1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 HDAC3 Sarah Graham commented on gene: HDAC3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GUK1 Esther Kinning commented on gene: GUK1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GTPBP1 Natalie Chandler commented on gene: GTPBP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GNS Sarah Graham commented on gene: GNS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GNPNAT1 Vicki Harrison commented on gene: GNPNAT1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GNAI2 Sarah Graham commented on gene: GNAI2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GEMIN4 Sahar Mansour commented on gene: GEMIN4: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GDAP1 Alice Gardham commented on gene: GDAP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GATA5 Natalie Chandler commented on gene: GATA5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GALT Sarah Graham commented on gene: GALT: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 G6PD Sarah Graham commented on gene: G6PD: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FLVCR1 Natalie Canham commented on gene: FLVCR1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FLII Sarah Graham commented on gene: FLII: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FGG Natalie Canham commented on gene: FGG: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FBXW11 Elizabeth Scotchman commented on gene: FBXW11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FBXO22 Natalie Bibb commented on gene: FBXO22: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FAM177A1 Vicki Harrison commented on gene: FAM177A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 EXOSC8 Sarah Graham commented on gene: EXOSC8: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 EXOC6B Natalie Bibb commented on gene: EXOC6B: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ERG Sunayna Best commented on gene: ERG: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 EFL1 Esther Kinning commented on gene: EFL1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 EEFSEC Natalie Chandler commented on gene: EEFSEC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DVL2 Natalie Bibb commented on gene: DVL2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DTNA Natalie Bibb commented on gene: DTNA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DST Sarah Graham commented on gene: DST: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DSE Natalie Chandler commented on gene: DSE: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DSC2 Alice Gardham commented on gene: DSC2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DOHH Esther Kinning commented on gene: DOHH: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DNAJC21 Elizabeth Wall commented on gene: DNAJC21: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DHX9 Elizabeth Scotchman commented on gene: DHX9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DHRSX Elizabeth Scotchman commented on gene: DHRSX: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DDX17 Elizabeth Scotchman commented on gene: DDX17: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DAND5 Elizabeth Wall commented on gene: DAND5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CYP24A1 Natalie Chandler commented on gene: CYP24A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 COQ2 Anna de Burca commented on gene: COQ2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 COMP Elizabeth Wall commented on gene: COMP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 COL25A1 Sarah Graham commented on gene: COL25A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 C1orf127 Elizabeth Scotchman commented on gene: C1orf127: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CHAF1A Elizabeth Wall commented on gene: CHAF1A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CFI Esther Kinning commented on gene: CFI: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CELSR1 Sarah Graham commented on gene: CELSR1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CDK5 Sarah Graham commented on gene: CDK5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CCT8 Sarah Graham commented on gene: CCT8: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CCT6A Sarah Graham commented on gene: CCT6A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CCT3 Natalie Canham commented on gene: CCT3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CTGF Elizabeth Scotchman commented on gene: CTGF: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BRD2 Natalie Canham commented on gene: BRD2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BORCS8 Natalie Canham commented on gene: BORCS8: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BICRA Natalie Chandler commented on gene: BICRA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BHLHE22 Sarah Graham commented on gene: BHLHE22: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BAIAP2 Anna de Burca commented on gene: BAIAP2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ASCC3 Anna de Burca commented on gene: ASCC3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ARPC5 Stephanie Allen commented on gene: ARPC5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ARL6IP1 Alice Gardham commented on gene: ARL6IP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ARL2BP Vicki Harrison commented on gene: ARL2BP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 AGT Esther Kinning commented on gene: AGT: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 AGRN Alice Gardham commented on gene: AGRN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ACTN2 Natalie Chandler commented on gene: ACTN2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ACO2 Natalie Chandler commented on gene: ACO2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Tag Q3_25_expert_review was removed from STR: DMPK_CTG.
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Amber List (moderate evidence)
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support the association with Myotonic dystrophy. This STR is Green on multiple GMS panels meaning that it has been approved by the NHS STR working group and can be promoted to Green on this panel at the next GMS panel update.
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.26 DMPK_CTG Arina Puzriakova Tag Q3_25_promote_green tag was added to STR: DMPK_CTG.
Tag Q3_25_expert_review tag was added to STR: DMPK_CTG.
Tag Q3_25_NHS_review tag was added to STR: DMPK_CTG.
Fetal anomalies v6.26 XYLT1_GCC Arina Puzriakova Classified STR: XYLT1_GCC as Red List (low evidence)
Fetal anomalies v6.26 XYLT1_GCC Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support an association with Desbuquois dysplasia, however, this STR is currently not green on any panels as it has not been approved by the NHS STR working group and is not NGS validated. Therefore the Red rating will be maintained for now.
Fetal anomalies v6.26 XYLT1_GCC Arina Puzriakova Str: xylt1_gcc has been classified as Red List (Low Evidence).
Fetal anomalies v6.25 CNBP_CCTG Arina Puzriakova Classified STR: CNBP_CCTG as Red List (low evidence)
Fetal anomalies v6.25 CNBP_CCTG Arina Puzriakova Added comment: Comment on list classification: This STR was downgraded from Amber to Red inline with the Red review by the R21 Clinical Oversight Group.
Fetal anomalies v6.25 CNBP_CCTG Arina Puzriakova Str: cnbp_cctg has been classified as Red List (Low Evidence).
Fetal anomalies v6.24 DMPK_CTG Arina Puzriakova commented on STR: DMPK_CTG: This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.24 XYLT1_GCC Arina Puzriakova commented on STR: XYLT1_GCC: This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.24 CNBP_CCTG Arina Puzriakova commented on STR: CNBP_CCTG: This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.24 XYLT1_GCC Arina Puzriakova reviewed STR: XYLT1_GCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 22711505, 30554721; Phenotypes: Desbuquois dysplasia 2, OMIM:615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DMPK_CTG Arina Puzriakova edited their review of STR: DMPK_CTG: Added comment: Green expert review added on behalf of Sunayna Best (Leeds Teaching Hospitals NHS Trust), as part of a review of this panel by the R21 Clinical Oversight Group:

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

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

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

Myotonic dytrophy 2 - no fetal presentation.; Changed rating: RED
Fetal anomalies v6.24 CDH11 Natalie Chandler reviewed gene: CDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: 29271567, 33811546; Phenotypes: Elsahy-Waters syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 FAAP100 Sarah Graham reviewed gene: FAAP100: Rating: GREEN; Mode of pathogenicity: ; Publications: 40232843, 40244696; Phenotypes: Fanconi anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 BORCS5 Sarah Graham reviewed gene: BORCS5: Rating: GREEN; Mode of pathogenicity: ; Publications: 40385417; Phenotypes: Arthrogryposis multiplex congenita, brain malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MAGED2 Sarah Graham reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 5, antenatal, transient; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.24 ZNRF3 Sarah Graham reviewed gene: ZNRF3: Rating: AMBER; Mode of pathogenicity: ; Publications: 39168120; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 ZNHIT3 Sarah Graham reviewed gene: ZNHIT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 39252897, 28335020; Phenotypes: PEHO syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ZNF808 Elizabeth Wall reviewed gene: ZNF808: Rating: RED; Mode of pathogenicity: ; Publications: 37973953, 37308312; Phenotypes: Pancreatic agenesis 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ZMYND11 Natalie Bibb reviewed gene: ZMYND11: Rating: AMBER; Mode of pathogenicity: ; Publications: 39521787; Phenotypes: Intellectual developmental disorder, autosomal dominant 30; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 ZEB1 Sarah Graham reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37857482; Phenotypes: Anomalies of the corpus callosum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 WDR47 Sarah Graham reviewed gene: WDR47: Rating: GREEN; Mode of pathogenicity: ; Publications: 39609633; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 UNC50 Sarah Graham reviewed gene: UNC50: Rating: AMBER; Mode of pathogenicity: ; Publications: 33820833, 40219868, 29016857; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 UNC13D Anna de Burca reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: ; Publications: 33082562, 29262924, 21646258; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 TPM1 Alice Gardham reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33553264; Phenotypes: Left ventricular noncompaction 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 C14orf80 Sunayna Best reviewed gene: C14orf80: Rating: AMBER; Mode of pathogenicity: ; Publications: 39979680; Phenotypes: severe growth impairment and endocrine complications; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 TCP1 Natalie Bibb reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: Intellectual developmental disorder with polymicrogyria and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 TCF20 Stephanie Allen reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: ; Publications: 30819258, 40066675; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 TAAR1 Sarah Graham reviewed gene: TAAR1: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Cerebellar vermis hypoplasia, cystic kidneys, polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SUPT7L Soo-Mi Park reviewed gene: SUPT7L: Rating: RED; Mode of pathogenicity: ; Publications: 38592547; Phenotypes: Fischer-Zirnsak progeroid syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 STXBP2 Alice Gardham reviewed gene: STXBP2: Rating: RED; Mode of pathogenicity: ; Publications: 38084697, 33593331; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 STX5 Sahar Mansour reviewed gene: STX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 34711829; Phenotypes: Congenital disorder of glycosylation, type IIaa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 STX11 Vicki Harrison reviewed gene: STX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4, OMIM:603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SRPK3 Sarah Graham reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39073169; Phenotypes: X-linked intellectual developmental disorder-114; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.24 SRP54 Stephanie Allen reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: ; Publications: 28972538, 29914977; Phenotypes: Neutropenia, severe congenital, 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 SPTA1 Sarah Graham reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31333484, 34132406, 30198572, 38031483; Phenotypes: Hereditary pyropoikilocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SPOUT1 Sunayna Best reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39962046; Phenotypes: Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SNAPC4 Esther Kinning reviewed gene: SNAPC4: Rating: AMBER; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SLC35A3 Sunayna Best reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777481, 24031089, 28328131, 33416188; Phenotypes: Arthrogryposis, mental retardation, and seizures, OMIM:615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SLC30A5 Natalie Chandler reviewed gene: SLC30A5: Rating: AMBER; Mode of pathogenicity: ; Publications: 39790720, 12095919, 33547425; Phenotypes: Cardiomyopathy, hydrops fetalis, or cystic hygroma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SLC19A1 Soo-Mi Park reviewed gene: SLC19A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32276275, 11266438, 36745868, 36517554; Phenotypes: Immunodeficiency 114, folate-responsive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SLC12A9 Sarah Graham reviewed gene: SLC12A9: Rating: GREEN; Mode of pathogenicity: ; Publications: 38334070; Phenotypes: SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SIRT6 Natalie Canham reviewed gene: SIRT6: Rating: AMBER; Mode of pathogenicity: ; Publications: 29555651, 30135584; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SENP7 Natalie Bibb reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 37460201, 39763084; Phenotypes: Fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SEL1L Anna de Burca reviewed gene: SEL1L: Rating: AMBER; Mode of pathogenicity: ; Publications: 37943610, 37943617; Phenotypes: Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 RPL26 Elizabeth Wall reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: 22431104, 39268718; Phenotypes: Diamond-Blackfan anaemia 11, OMIM:614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 RNU5B-1 Natalie Chandler reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40379786; Phenotypes: Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 RNU5A-1 Natalie Chandler reviewed gene: RNU5A-1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40379786; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 RNF31 Natalie Chandler reviewed gene: RNF31: Rating: RED; Mode of pathogenicity: ; Publications: 30936877, 26008899; Phenotypes: Immunodeficiency 115 with autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 RIPPLY2 Sahar Mansour reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32212228, 33410135, 25343988, 26238661; Phenotypes: Spondylocostal dysostosis 6, OMIM:616566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 RBFOX2 Anna de Burca reviewed gene: RBFOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: 35137168, 27485310, 27670201, 26785492, 25205790, 37165897; Phenotypes: Congenital heart disease, MONDO:0005453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 RAB11B Sahar Mansour reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: ; Publications: 39502218; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PYGL Soo-Mi Park reviewed gene: PYGL: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Glycogen storage disease VI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v6.24 PUS3 Elizabeth Scotchman reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27055666, 30697592, 31444731, 39891418, 30308082; Phenotypes: Neurodevelopmental disorder with microcephaly and gray sclerae; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PURA Natalie Canham reviewed gene: PURA: Rating: RED; Mode of pathogenicity: ; Publications: 39521787; Phenotypes: Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PTEN Sunayna Best reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 40261085; Phenotypes: Cowden syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PSKH1 Sarah Graham reviewed gene: PSKH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39132680; Phenotypes: hepatorenal syndrome, MONDO:0001382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PROC Elizabeth Wall reviewed gene: PROC: Rating: AMBER; Mode of pathogenicity: ; Publications: 39763161; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PPFIBP1 Stephanie Allen reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35830857, 37229200; Phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PPFIA3 Stephanie Allen reviewed gene: PPFIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38508193, 38181735, 37034625, 38723631; Phenotypes: Paul-Chao neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 POU3F3 Natalie Chandler reviewed gene: POU3F3: Rating: AMBER; Mode of pathogenicity: ; Publications: 37593446, 31303265; Phenotypes: Snijders Blok-Fisher syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PLVAP Alice Gardham reviewed gene: PLVAP: Rating: AMBER; Mode of pathogenicity: ; Publications: 26207260, 29875123, 29661969, 31215290; Phenotypes: Diarrhoea 10, protein-losing enteropathy type, OMIM:618183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PLAA Stephanie Allen reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 38650658, 28413018, 28007986, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGW Sahar Mansour reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: 40180615; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGQ Esther Kinning reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: ; Publications: 24463883, 31148362, 25558065, 32588908; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGP Elizabeth Wall reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: ; Publications: 32042915, 28334793, 31139695; Phenotypes: Developmental and epileptic encephalopathy 55; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGM Elizabeth Scotchman reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: ; Publications: 25293775, 16767100; Phenotypes: Glycosylphosphatidylinositol deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGG Anna de Burca reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: ; Publications: 34113002, 26996948; Phenotypes: Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGC Alice Gardham reviewed gene: PIGC: Rating: AMBER; Mode of pathogenicity: ; Publications: 32707268, 27694521; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 16; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PI4KA Anna de Burca reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PHF5A Vicki Harrison reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37422718, 33811463; Phenotypes: PHF5A-related neurodevelopmental disorder with congenital malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PDE12 Alice Gardham reviewed gene: PDE12: Rating: AMBER; Mode of pathogenicity: ; Publications: 39567835; Phenotypes: Mitochondrial disease, MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PDCD2 Soo-Mi Park reviewed gene: PDCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40208938; Phenotypes: hydrops fetalis and early pregnancy loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PAK2 Sarah Graham reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40262506, 37808560, 39876536, 33693784, 38894571, 39994693; Phenotypes: Knobloch syndrome 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PAICS Sunayna Best reviewed gene: PAICS: Rating: GREEN; Mode of pathogenicity: ; Publications: 31178128, 38179855, 3965093, 30758658; Phenotypes: Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 OSBPL9 Natalie Chandler reviewed gene: OSBPL9: Rating: RED; Mode of pathogenicity: ; Publications: 40182349; Phenotypes: Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ODC1 Anna de Burca reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40188065; Phenotypes: Bachmann-Bupp syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 NUP214 Stephanie Allen reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: 31178128, 39650934, 30758658; Phenotypes: Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NT5E Natalie Chandler reviewed gene: NT5E: Rating: RED; Mode of pathogenicity: ; Publications: 26010187, 34999808, 26178434, 21288095, 32522903, 28825389, 27045881; Phenotypes: arterial calcification, joint calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NR2F1 Soo-Mi Park reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31318166, 32712214, 36221391, 32484994, 40066675; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v6.24 NODAL Natalie Chandler reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: ; Publications: 19064609, 9354794; Phenotypes: Heterotaxy, visceral, 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 NMNAT1 Natalie Chandler reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NKX2-6 Sunayna Best reviewed gene: NKX2-6: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Conotruncal heart malformations, Persistent truncus arteriosus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NFASC Natalie Bibb reviewed gene: NFASC: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Neurodevelopmental disorder with central and peripheral motor dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NEXN Sarah Graham reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: 33949776, 39183344, 35166435, 32058062; Phenotypes: Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NEUROD1 Soo-Mi Park reviewed gene: NEUROD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26669242, 20573748, 10545951, 29521454, 26773576, 19609565; Phenotypes: Maturity-onset diabetes of the young 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v6.24 NEPRO Natalie Canham reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: ; Publications: 31250547, 29620724, 26633546, 37294112; Phenotypes: Anauxetic dysplasia 3, OMIM:618853; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NDUFB7 Vicki Harrison reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: ; Publications: 33502047, 40025060; Phenotypes: Mitochondrial complex I deficiency, nuclear type 39; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NAGS Elizabeth Wall reviewed gene: NAGS: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: N-acetylglutamate synthase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NAGLU Sarah Graham reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: 40066675; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MYL2 Vicki Harrison reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 39831482; Phenotypes: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, Cardiomyopathy, hypertrophic, 10; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 MYH9 Natalie Chandler reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: ; Publications: 16969870, 31384440; Phenotypes: Deafness, autosomal dominant 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 MSL2 Natalie Chandler reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 38815585, 31332282; Phenotypes: Karayol-Borroto-Haghshenas neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 MPL Elizabeth Scotchman reviewed gene: MPL: Rating: AMBER; Mode of pathogenicity: ; Publications: 39763161; Phenotypes: Amegakaryocytic thrombocytopenia, congenital, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MIA3 Sarah Graham reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 32101163, 33778321, 40119123; Phenotypes: Odontochondrodysplasia-2 with hearing loss and diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MET Stephanie Allen reviewed gene: MET: Rating: RED; Mode of pathogenicity: ; Publications: 30777867, 38429387; Phenotypes: ?Arthrogryposis, distal, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 MED11 Soo-Mi Park reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: 39578696, 36001086; Phenotypes: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v6.24 MAPK1 Sarah Graham reviewed gene: MAPK1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 40257485, 32721402; Phenotypes: Noonan syndrome 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 MAP3K3 Alice Gardham reviewed gene: MAP3K3: Rating: RED; Mode of pathogenicity: ; Publications: 25728774; Phenotypes: Cerebral cavernous malformations 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 MAN2B2 Sarah Graham reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: 38622837, 35637269, 31775018; Phenotypes: Congenital disorder of glycosylation type 1EE with or without immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MAL Sahar Mansour reviewed gene: MAL: Rating: AMBER; Mode of pathogenicity: Other; Publications: 35217805; Phenotypes: ?Leukodystrophy, hypomyelinating, 28; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 LSS Natalie Chandler reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: 39359128; Phenotypes: Alopecia-intellectual disability syndrome 4, Cataract 44; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 LRRC8C Vicki Harrison reviewed gene: LRRC8C: Rating: AMBER; Mode of pathogenicity: ; Publications: 39623139; Phenotypes: TIMES syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 LIPN Stephanie Allen reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Ichthyosis, congenital, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 LGI3 Soo-Mi Park reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35948005; Phenotypes: Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v6.24 LDB1 Vicki Harrison reviewed gene: LDB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39680505; Phenotypes: Congenital hydrocephalus, MONDO:0016349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 LAGE3 Natalie Chandler reviewed gene: LAGE3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28805828, 31069511, 36682911; Phenotypes: Galloway-Mowat syndrome 2, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.24 KMT2E Natalie Bibb reviewed gene: KMT2E: Rating: AMBER; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: O'Donnell-Luria-Rodan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 C12orf66 Sahar Mansour reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: ; Publications: 39824192; Phenotypes: Intellectual developmental disorder, autosomal recessive 83; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 KDM6B Sunayna Best reviewed gene: KDM6B: Rating: AMBER; Mode of pathogenicity: ; Publications: 31124270, 37196654; Phenotypes: Stolerman neurodevelopmental syndrome, OMIM:618505; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 KDM1A Esther Kinning reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 26656649, 24838796, 27094131; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 KCNH2 Sahar Mansour reviewed gene: KCNH2: Rating: AMBER; Mode of pathogenicity: ; Publications: 36973673, 39698424, 38094730; Phenotypes: Short QT syndrome 1, OMIM:609620, Long QT syndrome 2, OMIM:613688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 KCNB1 Soo-Mi Park reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 36257979, 31513310, 39237446; Phenotypes: Developmental and epileptic encephalopathy 26; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v6.24 KBTBD2 Esther Kinning reviewed gene: KBTBD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 39313616; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 KAT7 Natalie Chandler reviewed gene: KAT7: Rating: RED; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: Abnormal male external genitalia morphology, Tetralogy of Fallot; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 JPH1 Sarah Graham reviewed gene: JPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39209426; Phenotypes: Congenital myopathy-25; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ITGAV Natalie Canham reviewed gene: ITGAV: Rating: GREEN; Mode of pathogenicity: ; Publications: 39526957; Phenotypes: Syndromic disease, MONDO:0002254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 IRF4 Natalie Chandler reviewed gene: IRF4: Rating: RED; Mode of pathogenicity: ; Publications: 29537367, 36917008, 29408330, 36662884; Phenotypes: Immunodeficiency 131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 IFT27 Sahar Mansour reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: ; Publications: 25443296, 2970430, 24488770, 30761183, 37239474, 26763875; Phenotypes: Bardet-Biedl syndrome 19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 HNRNPU Sarah Graham reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: ; Publications: 39976380, 39965881, 39237446, 35138025; Phenotypes: Developmental and epileptic encephalopathy 54; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 HIRA Sarah Graham reviewed gene: HIRA: Rating: AMBER; Mode of pathogenicity: ; Publications: 38511226, 33417013; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 HECTD1 Sarah Graham reviewed gene: HECTD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 37165897, 38451291, 39879987; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 HDAC3 Sarah Graham reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39047730; Phenotypes: HDAC3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 GUK1 Esther Kinning reviewed gene: GUK1: Rating: RED; Mode of pathogenicity: ; Publications: 39230499; Phenotypes: Mitochondrial DNA depletion syndrome 21; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GTPBP1 Natalie Chandler reviewed gene: GTPBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38118446; Phenotypes: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GNS Sarah Graham reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIID, OMIM:252940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GNPNAT1 Vicki Harrison reviewed gene: GNPNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39945447; Phenotypes: Rhizomelic dysplasia, Ain-Naz type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GNAI2 Sarah Graham reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 39298586; Phenotypes: Syndromic developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 GEMIN4 Sahar Mansour reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GDAP1 Alice Gardham reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: ; Publications: 39945447; Phenotypes: Charcot-Marie-Tooth disease, type 4A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GATA5 Natalie Chandler reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: 40076735; Phenotypes: Congenital heart defects, multiple types, 5; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 GALT Sarah Graham reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactosemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 G6PD Sarah Graham reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: ; Publications: 39041728; Phenotypes: Glucose-6-phosphate dehydrogenase deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v6.24 FLVCR1 Natalie Canham reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39306721; Phenotypes: Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 FLII Sarah Graham reviewed gene: FLII: Rating: AMBER; Mode of pathogenicity: ; Publications: 37561591, 32870709; Phenotypes: Cardiomyopathy, dilated, 2J; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 FGG Natalie Canham reviewed gene: FGG: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Hypofibrinogenemia, congenital, Afibrinogenemia, congenital; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 FBXW11 Elizabeth Scotchman reviewed gene: FBXW11: Rating: AMBER; Mode of pathogenicity: ; Publications: 40188065, 31402090; Phenotypes: Neurodevelopmental, jaw, eye, and digital syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 FBXO22 Natalie Bibb reviewed gene: FBXO22: Rating: AMBER; Mode of pathogenicity: ; Publications: 40215970; Phenotypes: Tayoun-Maawali syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 FAM177A1 Vicki Harrison reviewed gene: FAM177A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38767059, 25558065; Phenotypes: Neurodevelopmental disorder with white matter abnormalities and gait disturbance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 EXOSC8 Sarah Graham reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 34210538, 38017281, 24989451; Phenotypes: Pontocerebellar hypoplasia type 1C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 EXOC6B Natalie Bibb reviewed gene: EXOC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 30284759, 26669664, 36150098; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ERG Sunayna Best reviewed gene: ERG: Rating: AMBER; Mode of pathogenicity: ; Publications: 36928819; Phenotypes: Lymphatic malformation 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 EFL1 Esther Kinning reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31151987, 29970384, 34115847, 28331068; Phenotypes: Shwachman-Diamond syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 EEFSEC Natalie Chandler reviewed gene: EEFSEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 39753114; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DVL2 Natalie Bibb reviewed gene: DVL2: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 35047859, 30521570, 33599851; Phenotypes: Robinow syndrome, MONDO:0019978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 DTNA Natalie Bibb reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: ; Publications: 36799992; Phenotypes: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 DST Sarah Graham reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: 37431644; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DSE Natalie Chandler reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: ; Publications: 31655143, 32130795, 25703627, 23704329; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DSC2 Alice Gardham reviewed gene: DSC2: Rating: RED; Mode of pathogenicity: ; Publications: 40188065; Phenotypes: Arrhythmogenic right ventricular dysplasia, familial, 11; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 DOHH Esther Kinning reviewed gene: DOHH: Rating: AMBER; Mode of pathogenicity: ; Publications: 35858628; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DNAJC21 Elizabeth Wall reviewed gene: DNAJC21: Rating: AMBER; Mode of pathogenicity: ; Publications: 27346687, 28062395, 29700810; Phenotypes: Bone marrow failure syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DHX9 Elizabeth Scotchman reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: 37467750, 37369308; Phenotypes: Intellectual developmental disorder, autosomal dominant 75; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 DHRSX Elizabeth Scotchman reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: 38821050; Phenotypes: Congenital disorder of glycosylation, type 1DD, OMIM:301133; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DDX17 Elizabeth Scotchman reviewed gene: DDX17: Rating: RED; Mode of pathogenicity: ; Publications: 39405200; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 DAND5 Elizabeth Wall reviewed gene: DAND5: Rating: AMBER; Mode of pathogenicity: ; Publications: 34215651, 36316122; Phenotypes: Heterotaxy, visceral, 13, autosomal; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 CYP24A1 Natalie Chandler reviewed gene: CYP24A1: Rating: RED; Mode of pathogenicity: ; Publications: 22337913, 28324001, 27105398, 34307984; Phenotypes: hypercalcaemia, nephrocalcinosis, cystic kidney disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 COQ2 Anna de Burca reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 39763161; Phenotypes: Coenzyme Q10 deficiency, primary, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 COMP Elizabeth Wall reviewed gene: COMP: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 40188065, 39521787; Phenotypes: Epiphyseal dysplasia, multiple, 1, Pseudoachondroplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 COL25A1 Sarah Graham reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40158061; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 C1orf127 Elizabeth Scotchman reviewed gene: C1orf127: Rating: GREEN; Mode of pathogenicity: ; Publications: 39753129; Phenotypes: Heterotaxy, visceral, 14, autosomal; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 CHAF1A Elizabeth Wall reviewed gene: CHAF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 39333427; Phenotypes: Oculo-auriculo-vertebral spectrum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 CFI Esther Kinning reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Complement factor I deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 CELSR1 Sarah Graham reviewed gene: CELSR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38272662; Phenotypes: Lymphatic malformation-9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 CDK5 Sarah Graham reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: ; Publications: 25560765, 40186457; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 CCT8 Sarah Graham reviewed gene: CCT8: Rating: AMBER; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: CCT8-related neurodevelopmental disorder with brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 CCT6A Sarah Graham reviewed gene: CCT6A: Rating: RED; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: CCT6A-related neurodevelopmental disorder with or without brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 CCT3 Natalie Canham reviewed gene: CCT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 CTGF Elizabeth Scotchman reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: 39506047, 39414788, 12736220; Phenotypes: Kyphomelic dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 BRD2 Natalie Canham reviewed gene: BRD2: Rating: RED; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: Agenesis of corpus callosum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 BORCS8 Natalie Canham reviewed gene: BORCS8: Rating: RED; Mode of pathogenicity: ; Publications: 38128568; Phenotypes: Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 BICRA Natalie Chandler reviewed gene: BICRA: Rating: AMBER; Mode of pathogenicity: ; Publications: 33232675; Phenotypes: Coffin-Siris syndrome 12; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 BHLHE22 Sarah Graham reviewed gene: BHLHE22: Rating: GREEN; Mode of pathogenicity: ; Publications: 39502664; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 BAIAP2 Anna de Burca reviewed gene: BAIAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 38149472; Phenotypes: Lissencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 ASCC3 Anna de Burca reviewed gene: ASCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 21937992, 35047834; Phenotypes: Intellectual developmental disorder, autosomal recessive 81, OMIM:620700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ARPC5 Stephanie Allen reviewed gene: ARPC5: Rating: RED; Mode of pathogenicity: ; Publications: 37382373, 37349293; Phenotypes: Immunodeficiency 113 with autoimmunity and autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ARL6IP1 Alice Gardham reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39954331; Phenotypes: Spastic paraplegia 61, autosomal recessive, OMIM:615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ARL2BP Vicki Harrison reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: 36507858, 40384762, 38649918, 23849777, 27790702; Phenotypes: Situs Inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 AGT Esther Kinning reviewed gene: AGT: Rating: GREEN; Mode of pathogenicity: ; Publications: 39641285; Phenotypes: Renal tubular dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 AGRN Alice Gardham reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: ; Publications: 39807604; Phenotypes: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ACTN2 Natalie Chandler reviewed gene: ACTN2: Rating: RED; Mode of pathogenicity: ; Publications: 39521787; Phenotypes: Congenital myopathy 8, Cardiomyopathy, hypertrophic, 23, with or without LVNC, Cardiomyopathy, dilated, 1AA, with or without LVNC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 ACO2 Natalie Chandler reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Infantile cerebellar-retinal degeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.23 CNBP_CCTG Arina Puzriakova Classified STR: CNBP_CCTG as Red List (low evidence)
Fetal anomalies v6.23 CNBP_CCTG Arina Puzriakova Str: cnbp_cctg has been classified as Red List (Low Evidence).
Fetal anomalies v6.22 XYLT1_GCC Arina Puzriakova Entity copied from Skeletal dysplasia v8.7
Fetal anomalies v6.22 XYLT1_GCC Arina Puzriakova STR: XYLT1_GCC was added
STR: XYLT1_GCC was added to Fetal anomalies. Sources: Literature
STR, NGS Not Validated tags were added to STR: XYLT1_GCC.
Mode of inheritance for STR: XYLT1_GCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: XYLT1_GCC were set to 22711505; 30554721
Phenotypes for STR: XYLT1_GCC were set to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Fetal anomalies v6.21 CDH11 Arina Puzriakova gene: CDH11 was added
gene: CDH11 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CDH11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CDH11 were set to 33811546; 29271567
Phenotypes for gene: CDH11 were set to Elsahy-Waters syndrome
Fetal anomalies v6.21 FAAP100 Arina Puzriakova gene: FAAP100 was added
gene: FAAP100 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: FAAP100 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAP100 were set to 40244696; 40232843
Phenotypes for gene: FAAP100 were set to Fanconi anemia
Fetal anomalies v6.21 BORCS5 Arina Puzriakova gene: BORCS5 was added
gene: BORCS5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS5 were set to 40385417
Phenotypes for gene: BORCS5 were set to Arthrogryposis multiplex congenita, brain malformations
Fetal anomalies v6.21 MAGED2 Arina Puzriakova gene: MAGED2 was added
gene: MAGED2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MAGED2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAGED2 were set to Bartter syndrome, type 5, antenatal, transient
Fetal anomalies v6.21 ZNRF3 Arina Puzriakova gene: ZNRF3 was added
gene: ZNRF3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZNRF3 were set to 39168120
Phenotypes for gene: ZNRF3 were set to Complex neurodevelopmental disorder
Fetal anomalies v6.21 ZNHIT3 Arina Puzriakova Source Expert Review Amber was added to ZNHIT3.
Added phenotypes PEHO syndrome for gene: ZNHIT3
Publications for gene: ZNHIT3 were updated from 28335020; 31048081 to 39252897; 28335020; 31048081
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 ZNF808 Arina Puzriakova gene: ZNF808 was added
gene: ZNF808 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ZNF808 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF808 were set to 37308312; 37973953
Phenotypes for gene: ZNF808 were set to Pancreatic agenesis 3
Fetal anomalies v6.21 ZMYND11 Arina Puzriakova Mode of inheritance for gene ZMYND11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder, autosomal dominant 30 for gene: ZMYND11
Publications for gene: ZMYND11 were updated from to 39521787
Fetal anomalies v6.21 ZEB1 Arina Puzriakova gene: ZEB1 was added
gene: ZEB1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ZEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZEB1 were set to 37857482
Phenotypes for gene: ZEB1 were set to Anomalies of the corpus callosum
Fetal anomalies v6.21 WDR47 Arina Puzriakova gene: WDR47 was added
gene: WDR47 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: WDR47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR47 were set to 39609633
Phenotypes for gene: WDR47 were set to Complex neurodevelopmental disorder
Fetal anomalies v6.21 UNC50 Arina Puzriakova gene: UNC50 was added
gene: UNC50 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC50 were set to 29016857; 40219868; 33820833
Phenotypes for gene: UNC50 were set to Arthrogryposis multiplex congenita
Fetal anomalies v6.21 UNC13D Arina Puzriakova Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 3 for gene: UNC13D
Publications for gene: UNC13D were updated from 33082562; 33249554 to 21646258; 33249554; 29262924; 33082562
Fetal anomalies v6.21 TPM1 Arina Puzriakova gene: TPM1 was added
gene: TPM1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPM1 were set to 33553264
Phenotypes for gene: TPM1 were set to Left ventricular noncompaction 9
Fetal anomalies v6.21 C14orf80 Arina Puzriakova gene: C14orf80 was added
gene: C14orf80 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C14orf80 were set to 39979680
Phenotypes for gene: C14orf80 were set to severe growth impairment and endocrine complications
Fetal anomalies v6.21 TCP1 Arina Puzriakova gene: TCP1 was added
gene: TCP1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCP1 were set to 39480921
Phenotypes for gene: TCP1 were set to Intellectual developmental disorder with polymicrogyria and seizures
Fetal anomalies v6.21 TCF20 Arina Puzriakova Mode of inheritance for gene TCF20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities for gene: TCF20
Publications for gene: TCF20 were updated from to 30819258; 40066675
Fetal anomalies v6.21 TAAR1 Arina Puzriakova gene: TAAR1 was added
gene: TAAR1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: TAAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAAR1 were set to 39891418
Phenotypes for gene: TAAR1 were set to Cerebellar vermis hypoplasia, cystic kidneys, polydactyly
Fetal anomalies v6.21 SUPT7L Arina Puzriakova gene: SUPT7L was added
gene: SUPT7L was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: SUPT7L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUPT7L were set to 38592547
Phenotypes for gene: SUPT7L were set to Fischer-Zirnsak progeroid syndrome
Fetal anomalies v6.21 STXBP2 Arina Puzriakova gene: STXBP2 was added
gene: STXBP2 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP2 were set to 33593331; 38084697
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease
Fetal anomalies v6.21 STX5 Arina Puzriakova Added phenotypes Congenital disorder of glycosylation, type IIaa for gene: STX5
Fetal anomalies v6.21 STX11 Arina Puzriakova gene: STX11 was added
gene: STX11 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STX11 were set to Haemophagocytic lymphohistiocytosis, familial, 4, OMIM:603552
Fetal anomalies v6.21 SRPK3 Arina Puzriakova gene: SRPK3 was added
gene: SRPK3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SRPK3 were set to 39073169
Phenotypes for gene: SRPK3 were set to X-linked intellectual developmental disorder-114
Fetal anomalies v6.21 SRP54 Arina Puzriakova Mode of inheritance for gene SRP54 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neutropenia, severe congenital, 8, autosomal dominant for gene: SRP54
Publications for gene: SRP54 were updated from to 28972538; 29914977
Fetal anomalies v6.21 SPTA1 Arina Puzriakova Source Expert Review Amber was added to SPTA1.
Mode of inheritance for gene SPTA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hereditary pyropoikilocytosis for gene: SPTA1
Publications for gene: SPTA1 were updated from 31333484; 33082562; 34132406 to 34132406; 30198572; 38031483; 33082562; 31333484
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 SPOUT1 Arina Puzriakova gene: SPOUT1 was added
gene: SPOUT1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SPOUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPOUT1 were set to 39962046
Phenotypes for gene: SPOUT1 were set to Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities
Fetal anomalies v6.21 SNAPC4 Arina Puzriakova gene: SNAPC4 was added
gene: SNAPC4 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SNAPC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAPC4 were set to 40186013
Phenotypes for gene: SNAPC4 were set to Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
Fetal anomalies v6.21 SLC35A3 Arina Puzriakova gene: SLC35A3 was added
gene: SLC35A3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A3 were set to 28328131; 28777481; 24031089; 33416188
Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures, OMIM:615553
Fetal anomalies v6.21 SLC30A5 Arina Puzriakova gene: SLC30A5 was added
gene: SLC30A5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A5 were set to 33547425; 12095919; 39790720
Phenotypes for gene: SLC30A5 were set to Cardiomyopathy, hydrops fetalis, or cystic hygroma
Fetal anomalies v6.21 SLC19A1 Arina Puzriakova gene: SLC19A1 was added
gene: SLC19A1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A1 were set to 32276275; 36745868; 11266438; 36517554
Phenotypes for gene: SLC19A1 were set to Immunodeficiency 114, folate-responsive
Fetal anomalies v6.21 SLC12A9 Arina Puzriakova gene: SLC12A9 was added
gene: SLC12A9 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC12A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A9 were set to 38334070
Phenotypes for gene: SLC12A9 were set to SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects
Fetal anomalies v6.21 SIRT6 Arina Puzriakova Added phenotypes Neurodevelopmental disorder, MONDO:0700092 for gene: SIRT6
Publications for gene: SIRT6 were updated from 29555651; 30135584 to 30135584; 29555651
Fetal anomalies v6.21 SENP7 Arina Puzriakova gene: SENP7 was added
gene: SENP7 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SENP7 were set to 37460201; 39763084
Phenotypes for gene: SENP7 were set to Fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia
Fetal anomalies v6.21 SEL1L Arina Puzriakova gene: SEL1L was added
gene: SEL1L was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SEL1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEL1L were set to 37943617; 37943610
Phenotypes for gene: SEL1L were set to Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia
Fetal anomalies v6.21 RPL26 Arina Puzriakova gene: RPL26 was added
gene: RPL26 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL26 were set to 22431104; 39268718
Phenotypes for gene: RPL26 were set to Diamond-Blackfan anaemia 11, OMIM:614900
Fetal anomalies v6.21 RNU5B-1 Arina Puzriakova gene: RNU5B-1 was added
gene: RNU5B-1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNU5B-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU5B-1 were set to 40379786
Phenotypes for gene: RNU5B-1 were set to Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302