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Fetal anomalies v1.361 DIAPH1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.361 DIAPH1 Arina Puzriakova Gene: diaph1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.360 DIAPH1 Arina Puzriakova Tag for-review tag was added to gene: DIAPH1.
Fetal anomalies v1.360 CYP4F22 Arina Puzriakova Classified gene: CYP4F22 as Amber List (moderate evidence)
Fetal anomalies v1.360 CYP4F22 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.360 CYP4F22 Arina Puzriakova Gene: cyp4f22 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.359 CYP4F22 Arina Puzriakova Tag for-review tag was added to gene: CYP4F22.
Fetal anomalies v1.359 CYP26B1 Arina Puzriakova Classified gene: CYP26B1 as Amber List (moderate evidence)
Fetal anomalies v1.359 CYP26B1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.359 CYP26B1 Arina Puzriakova Gene: cyp26b1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.358 CYP26B1 Arina Puzriakova Tag for-review tag was added to gene: CYP26B1.
Fetal anomalies v1.358 CTU2 Arina Puzriakova Classified gene: CTU2 as Amber List (moderate evidence)
Fetal anomalies v1.358 CTU2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.358 CTU2 Arina Puzriakova Gene: ctu2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.357 CTU2 Arina Puzriakova Tag for-review tag was added to gene: CTU2.
Fetal anomalies v1.357 CRIPT Arina Puzriakova Classified gene: CRIPT as Amber List (moderate evidence)
Fetal anomalies v1.357 CRIPT Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.357 CRIPT Arina Puzriakova Gene: cript has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.356 CRIPT Arina Puzriakova Tag for-review tag was added to gene: CRIPT.
Fetal anomalies v1.356 ZSWIM6 Catherine Snow Tag for-review tag was added to gene: ZSWIM6.
Fetal anomalies v1.356 COLEC10 Arina Puzriakova Phenotypes for gene: COLEC10 were changed from 3MC to 3MC syndrome 3, OMIM:248340; 3MC syndrome 3, MONDO:0009554
Fetal anomalies v1.355 COL13A1 Arina Puzriakova Phenotypes for gene: COL13A1 were changed from Congenital Myasthenic Syndrome Type 19 to Myasthenic syndrome, congenital, 19, OMIM:616720; Congenital myasthenic syndrome 19, MONDO:0014745
Fetal anomalies v1.355 ZSWIM6 Catherine Snow Classified gene: ZSWIM6 as Amber List (moderate evidence)
Fetal anomalies v1.355 ZSWIM6 Catherine Snow Added comment: Comment on list classification: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.355 ZSWIM6 Catherine Snow Gene: zswim6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.354 COLEC10 Arina Puzriakova Classified gene: COLEC10 as Amber List (moderate evidence)
Fetal anomalies v1.354 COLEC10 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.354 COLEC10 Arina Puzriakova Gene: colec10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.353 COLEC10 Arina Puzriakova Tag for-review tag was added to gene: COLEC10.
Fetal anomalies v1.353 COL13A1 Arina Puzriakova Classified gene: COL13A1 as Amber List (moderate evidence)
Fetal anomalies v1.353 COL13A1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.353 COL13A1 Arina Puzriakova Gene: col13a1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.352 COL13A1 Arina Puzriakova Tag for-review tag was added to gene: COL13A1.
Fetal anomalies v1.352 COG5 Arina Puzriakova Phenotypes for gene: COG5 were changed from COG5-CDG to Congenital disorder of glycosylation, type III, OMIM:613612; COG5-CDG, MONDO:0013325
Fetal anomalies v1.351 CLP1 Arina Puzriakova Phenotypes for gene: CLP1 were changed from PONTOCEREBELLAR HYPOPLASIA, TYPE 10 to Pontocerebellar hypoplasia, type 10, OMIM:615803; Pontocerebellar hypoplasia type 10, MONDO:0014349
Fetal anomalies v1.350 CIT Arina Puzriakova Phenotypes for gene: CIT were changed from PRIMARY MICROCEPHALY to Microcephaly 17, primary, autosomal recessive, OMIM:617090; Microcephaly 17, primary, autosomal recessive, MONDO:0014908
Fetal anomalies v1.349 COG5 Arina Puzriakova Classified gene: COG5 as Amber List (moderate evidence)
Fetal anomalies v1.349 COG5 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.349 COG5 Arina Puzriakova Gene: cog5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.348 COG5 Arina Puzriakova Tag for-review tag was added to gene: COG5.
Fetal anomalies v1.348 CLP1 Arina Puzriakova Classified gene: CLP1 as Amber List (moderate evidence)
Fetal anomalies v1.348 CLP1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.348 CLP1 Arina Puzriakova Gene: clp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.347 CLP1 Arina Puzriakova Tag for-review tag was added to gene: CLP1.
Fetal anomalies v1.347 CIT Arina Puzriakova Classified gene: CIT as Amber List (moderate evidence)
Fetal anomalies v1.347 CIT Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.347 CIT Arina Puzriakova Gene: cit has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.346 CIT Arina Puzriakova Tag for-review tag was added to gene: CIT.
Fetal anomalies v1.346 CHMP1A Arina Puzriakova Phenotypes for gene: CHMP1A were changed from PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY to Pontocerebellar hypoplasia, type 8, OMIM:614961; Pontocerebellar hypoplasia type 8, MONDO:0013990
Fetal anomalies v1.345 CFL2 Arina Puzriakova Phenotypes for gene: CFL2 were changed from NEMALINE MYOPATHY 7 to Nemaline myopathy 7, autosomal recessive, OMIM:610687; Nemaline myopathy 7, MONDO:0012538
Fetal anomalies v1.344 CHMP1A Arina Puzriakova Classified gene: CHMP1A as Amber List (moderate evidence)
Fetal anomalies v1.344 CHMP1A Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.344 CHMP1A Arina Puzriakova Gene: chmp1a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.343 CHMP1A Arina Puzriakova Tag for-review tag was added to gene: CHMP1A.
Fetal anomalies v1.343 CFL2 Arina Puzriakova Classified gene: CFL2 as Amber List (moderate evidence)
Fetal anomalies v1.343 CFL2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.343 CFL2 Arina Puzriakova Gene: cfl2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.342 CFL2 Arina Puzriakova Tag for-review tag was added to gene: CFL2.
Fetal anomalies v1.342 CEP63 Arina Puzriakova Phenotypes for gene: CEP63 were changed from SECKEL SYNDROME 6 to ?Seckel syndrome 6, OMIM:614728; Seckel syndrome 6, MONDO:0013871
Fetal anomalies v1.341 CEP63 Arina Puzriakova Classified gene: CEP63 as Amber List (moderate evidence)
Fetal anomalies v1.341 CEP63 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.341 CEP63 Arina Puzriakova Gene: cep63 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.340 CEP63 Arina Puzriakova Tag for-review tag was added to gene: CEP63.
Fetal anomalies v1.340 CEP135 Arina Puzriakova Phenotypes for gene: CEP135 were changed from PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION to Microcephaly 8, primary, autosomal recessive, OMIM:614673; Microcephaly 8, primary, autosomal recessive, MONDO:0013849
Fetal anomalies v1.339 CEP135 Arina Puzriakova Classified gene: CEP135 as Amber List (moderate evidence)
Fetal anomalies v1.339 CEP135 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.339 CEP135 Arina Puzriakova Gene: cep135 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.338 CEP135 Arina Puzriakova Tag for-review tag was added to gene: CEP135.
Fetal anomalies v1.338 CDK5RAP2 Arina Puzriakova Phenotypes for gene: CDK5RAP2 were changed from PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY to Microcephaly 3, primary, autosomal recessive, OMIM:604804; Microcephaly 3, primary, autosomal recessive, MONDO:0011488
Fetal anomalies v1.337 CCDC88C Arina Puzriakova Phenotypes for gene: CCDC88C were changed from HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE to Hydrocephalus, congenital, 1, OMIM:236600; Hydrocephalus, nonsyndromic, autosomal recessive 1, MONDO:0009360
Fetal anomalies v1.336 CCDC8 Arina Puzriakova Phenotypes for gene: CCDC8 were changed from THREE M SYNDROME 3 to 3-M syndrome 3, OMIM:614205; 3M syndrome 3, MONDO:0013627
Fetal anomalies v1.335 CDK5RAP2 Arina Puzriakova Classified gene: CDK5RAP2 as Amber List (moderate evidence)
Fetal anomalies v1.335 CDK5RAP2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.335 CDK5RAP2 Arina Puzriakova Gene: cdk5rap2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.334 CDK5RAP2 Arina Puzriakova Tag for-review tag was added to gene: CDK5RAP2.
Fetal anomalies v1.334 CCDC88C Arina Puzriakova Classified gene: CCDC88C as Amber List (moderate evidence)
Fetal anomalies v1.334 CCDC88C Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.334 CCDC88C Arina Puzriakova Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.333 CCDC88C Arina Puzriakova Tag for-review tag was added to gene: CCDC88C.
Fetal anomalies v1.333 CCDC8 Arina Puzriakova Classified gene: CCDC8 as Amber List (moderate evidence)
Fetal anomalies v1.333 CCDC8 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.333 CCDC8 Arina Puzriakova Gene: ccdc8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.332 CCDC8 Arina Puzriakova Tag for-review tag was added to gene: CCDC8.
Fetal anomalies v1.332 CCDC151 Arina Puzriakova Phenotypes for gene: CCDC151 were changed from PRIMARY CILLARY DYSKINEASIA to Ciliary dyskinesia, primary, 30, OMIM:616037; Primary ciliary dyskinesia 30, MONDO:0014465
Fetal anomalies v1.331 CCDC151 Arina Puzriakova Classified gene: CCDC151 as Amber List (moderate evidence)
Fetal anomalies v1.331 CCDC151 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.331 CCDC151 Arina Puzriakova Gene: ccdc151 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.330 CCDC151 Arina Puzriakova Tag for-review tag was added to gene: CCDC151.
Fetal anomalies v1.330 C2CD3 Arina Puzriakova Phenotypes for gene: C2CD3 were changed from OROFACIODIGITAL SYNDROME XIV to Orofaciodigital syndrome XIV, OMIM:615948; Orofaciodigital syndrome type 14, MONDO:0014413
Fetal anomalies v1.329 C2CD3 Arina Puzriakova Classified gene: C2CD3 as Amber List (moderate evidence)
Fetal anomalies v1.329 C2CD3 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.329 C2CD3 Arina Puzriakova Gene: c2cd3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.328 C2CD3 Arina Puzriakova Tag for-review tag was added to gene: C2CD3.
Fetal anomalies v1.328 C21orf59 Arina Puzriakova Phenotypes for gene: C21orf59 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 26, OMIM:615500; Primary ciliary dyskinesia 26, MONDO:0014211
Fetal anomalies v1.327 C21orf59 Arina Puzriakova Classified gene: C21orf59 as Amber List (moderate evidence)
Fetal anomalies v1.327 C21orf59 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.327 C21orf59 Arina Puzriakova Gene: c21orf59 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.326 C21orf59 Arina Puzriakova Tag for-review tag was added to gene: C21orf59.
Fetal anomalies v1.326 B3GALNT2 Arina Puzriakova Phenotypes for gene: B3GALNT2 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, MONDO:0014071
Fetal anomalies v1.325 B3GALNT2 Arina Puzriakova Classified gene: B3GALNT2 as Amber List (moderate evidence)
Fetal anomalies v1.325 B3GALNT2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.325 B3GALNT2 Arina Puzriakova Gene: b3galnt2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.324 B3GALNT2 Arina Puzriakova Tag for-review tag was added to gene: B3GALNT2.
Fetal anomalies v1.324 ATR Arina Puzriakova Phenotypes for gene: ATR were changed from SECKEL SYNDROME TYPE 1 to Seckel syndrome 1, OMIM:210600; Seckel syndrome 1, MONDO:0008869
Fetal anomalies v1.323 ATR Arina Puzriakova Classified gene: ATR as Amber List (moderate evidence)
Fetal anomalies v1.323 ATR Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.323 ATR Arina Puzriakova Gene: atr has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.322 ATR Arina Puzriakova Tag for-review tag was added to gene: ATR.
Fetal anomalies v1.322 ARFGEF2 Arina Puzriakova Phenotypes for gene: ARFGEF2 were changed from PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY to Periventricular heterotopia with microcephaly, OMIM:608097
Fetal anomalies v1.321 ARFGEF2 Arina Puzriakova Classified gene: ARFGEF2 as Amber List (moderate evidence)
Fetal anomalies v1.321 ARFGEF2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.321 ARFGEF2 Arina Puzriakova Gene: arfgef2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.320 ARFGEF2 Arina Puzriakova Tag for-review tag was added to gene: ARFGEF2.
Fetal anomalies v1.320 ANTXR2 Arina Puzriakova Publications for gene: ANTXR2 were set to
Fetal anomalies v1.319 ANTXR2 Arina Puzriakova Classified gene: ANTXR2 as Amber List (moderate evidence)
Fetal anomalies v1.319 ANTXR2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene has been upgraded from Red to Amber, but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.319 ANTXR2 Arina Puzriakova Gene: antxr2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.318 ANTXR2 Arina Puzriakova Tag for-review tag was added to gene: ANTXR2.
Fetal anomalies v1.318 CREB3L1 Arina Puzriakova Classified gene: CREB3L1 as Amber List (moderate evidence)
Fetal anomalies v1.318 CREB3L1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.318 CREB3L1 Arina Puzriakova Gene: creb3l1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.317 CREB3L1 Arina Puzriakova Tag for-review tag was added to gene: CREB3L1.
Fetal anomalies v1.317 COLQ Arina Puzriakova Publications for gene: COLQ were set to PMID: 9689136; 11865139
Fetal anomalies v1.316 COLQ Arina Puzriakova Classified gene: COLQ as Amber List (moderate evidence)
Fetal anomalies v1.316 COLQ Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.316 COLQ Arina Puzriakova Gene: colq has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.315 COLQ Arina Puzriakova Tag for-review tag was added to gene: COLQ.
Fetal anomalies v1.315 COL12A1 Arina Puzriakova Classified gene: COL12A1 as Amber List (moderate evidence)
Fetal anomalies v1.315 COL12A1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.315 COL12A1 Arina Puzriakova Gene: col12a1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.314 COL12A1 Arina Puzriakova Tag for-review tag was added to gene: COL12A1.
Fetal anomalies v1.314 CNBP Arina Puzriakova Classified gene: CNBP as Amber List (moderate evidence)
Fetal anomalies v1.314 CNBP Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.314 CNBP Arina Puzriakova Gene: cnbp has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.313 COG6 Arina Puzriakova Classified gene: COG6 as Amber List (moderate evidence)
Fetal anomalies v1.313 COG6 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.313 COG6 Arina Puzriakova Gene: cog6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.312 COG6 Arina Puzriakova Tag for-review tag was added to gene: COG6.
Fetal anomalies v1.312 CNBP Arina Puzriakova Tag for-review tag was added to gene: CNBP.
Fetal anomalies v1.312 CHRNE Arina Puzriakova Classified gene: CHRNE as Amber List (moderate evidence)
Fetal anomalies v1.312 CHRNE Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.312 CHRNE Arina Puzriakova Gene: chrne has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.311 CHRNE Arina Puzriakova Tag for-review tag was added to gene: CHRNE.
Fetal anomalies v1.311 CHRNB1 Arina Puzriakova Classified gene: CHRNB1 as Amber List (moderate evidence)
Fetal anomalies v1.311 CHRNB1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.311 CHRNB1 Arina Puzriakova Gene: chrnb1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.310 CHRNB1 Arina Puzriakova Tag for-review tag was added to gene: CHRNB1.
Fetal anomalies v1.310 CHRNA3 Arina Puzriakova Classified gene: CHRNA3 as Amber List (moderate evidence)
Fetal anomalies v1.310 CHRNA3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.310 CHRNA3 Arina Puzriakova Gene: chrna3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.309 CHRNA3 Arina Puzriakova Tag for-review tag was added to gene: CHRNA3.
Fetal anomalies v1.309 CERS3 Arina Puzriakova Classified gene: CERS3 as Amber List (moderate evidence)
Fetal anomalies v1.309 CERS3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.309 CERS3 Arina Puzriakova Gene: cers3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.308 CERS3 Arina Puzriakova Tag for-review tag was added to gene: CERS3.
Fetal anomalies v1.308 CENPF Arina Puzriakova Classified gene: CENPF as Amber List (moderate evidence)
Fetal anomalies v1.308 CENPF Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.308 CENPF Arina Puzriakova Gene: cenpf has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.307 CENPF Arina Puzriakova Tag for-review tag was added to gene: CENPF.
Fetal anomalies v1.307 CELSR1 Arina Puzriakova Classified gene: CELSR1 as Amber List (moderate evidence)
Fetal anomalies v1.307 CELSR1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.307 CELSR1 Arina Puzriakova Gene: celsr1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.306 CELSR1 Arina Puzriakova Tag for-review tag was added to gene: CELSR1.
Fetal anomalies v1.306 CASR Arina Puzriakova Classified gene: CASR as Amber List (moderate evidence)
Fetal anomalies v1.306 CASR Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.306 CASR Arina Puzriakova Gene: casr has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.305 CANT1 Arina Puzriakova Classified gene: CANT1 as Amber List (moderate evidence)
Fetal anomalies v1.305 CANT1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.305 CANT1 Arina Puzriakova Gene: cant1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.304 CANT1 Arina Puzriakova Tag for-review tag was added to gene: CANT1.
Fetal anomalies v1.304 CACNA1G Arina Puzriakova Classified gene: CACNA1G as Amber List (moderate evidence)
Fetal anomalies v1.304 CACNA1G Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.304 CACNA1G Arina Puzriakova Gene: cacna1g has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.303 CACNA1G Arina Puzriakova Tag for-review tag was added to gene: CACNA1G.
Fetal anomalies v1.303 BNC2 Arina Puzriakova Classified gene: BNC2 as Amber List (moderate evidence)
Fetal anomalies v1.303 BNC2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.303 BNC2 Arina Puzriakova Gene: bnc2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.302 BNC2 Arina Puzriakova Tag for-review tag was added to gene: BNC2.
Fetal anomalies v1.302 B4GAT1 Arina Puzriakova Publications for gene: B4GAT1 were set to PMID: 23877401; 23359570
Fetal anomalies v1.301 B4GAT1 Arina Puzriakova Classified gene: B4GAT1 as Amber List (moderate evidence)
Fetal anomalies v1.301 B4GAT1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.301 B4GAT1 Arina Puzriakova Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.300 B4GAT1 Arina Puzriakova Tag for-review tag was added to gene: B4GAT1.
Fetal anomalies v1.300 ARHGAP29 Arina Puzriakova Classified gene: ARHGAP29 as Amber List (moderate evidence)
Fetal anomalies v1.300 ARHGAP29 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.300 ARHGAP29 Arina Puzriakova Gene: arhgap29 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.299 ARHGAP29 Arina Puzriakova Tag for-review tag was added to gene: ARHGAP29.
Fetal anomalies v1.299 ANKS6 Arina Puzriakova Classified gene: ANKS6 as Amber List (moderate evidence)
Fetal anomalies v1.299 ANKS6 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.299 ANKS6 Arina Puzriakova Gene: anks6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.298 ANKS6 Arina Puzriakova Tag for-review tag was added to gene: ANKS6.
Fetal anomalies v1.298 AMMECR1 Arina Puzriakova Classified gene: AMMECR1 as Amber List (moderate evidence)
Fetal anomalies v1.298 AMMECR1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.298 AMMECR1 Arina Puzriakova Gene: ammecr1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.297 AMMECR1 Arina Puzriakova Tag for-review tag was added to gene: AMMECR1.
Fetal anomalies v1.297 AMACR Arina Puzriakova Classified gene: AMACR as Amber List (moderate evidence)
Fetal anomalies v1.297 AMACR Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.297 AMACR Arina Puzriakova Gene: amacr has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.296 AMACR Arina Puzriakova Tag for-review tag was added to gene: AMACR.
Fetal anomalies v1.296 ALOXE3 Arina Puzriakova Classified gene: ALOXE3 as Amber List (moderate evidence)
Fetal anomalies v1.296 ALOXE3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.296 ALOXE3 Arina Puzriakova Gene: aloxe3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.295 ALOXE3 Arina Puzriakova Tag for-review tag was added to gene: ALOXE3.
Fetal anomalies v1.295 ALOX12B Arina Puzriakova Classified gene: ALOX12B as Amber List (moderate evidence)
Fetal anomalies v1.295 ALOX12B Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.295 ALOX12B Arina Puzriakova Gene: alox12b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.294 ALOX12B Arina Puzriakova Tag for-review tag was added to gene: ALOX12B.
Fetal anomalies v1.294 ALG2 Arina Puzriakova Tag for-review tag was added to gene: ALG2.
Fetal anomalies v1.294 ALG2 Arina Puzriakova Classified gene: ALG2 as Amber List (moderate evidence)
Fetal anomalies v1.294 ALG2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.294 ALG2 Arina Puzriakova Gene: alg2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.293 ABL1 Arina Puzriakova Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations to Congenital heart defects and skeletal malformations, OMIM:617602; Congenital heart defects and skeletal malformations syndrome, MONDO:0060532
Fetal anomalies v1.292 ABL1 Arina Puzriakova Classified gene: ABL1 as Amber List (moderate evidence)
Fetal anomalies v1.292 ABL1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.292 ABL1 Arina Puzriakova Gene: abl1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.291 ABL1 Arina Puzriakova Tag for-review tag was added to gene: ABL1.
Fetal anomalies v1.291 WDR81 Arina Puzriakova Publications for gene: WDR81 were set to
Fetal anomalies v1.290 WDR81 Arina Puzriakova Phenotypes for gene: WDR81 were changed from Hydrocephalus, congenital, 3, with brain anomalies to Hydrocephalus, congenital, 3, with brain anomalies, OMIM:617967; Hydrocephalus, congenital, 3, with brain anomalies, MONDO:0054794
Fetal anomalies v1.289 WDR81 Arina Puzriakova Classified gene: WDR81 as Amber List (moderate evidence)
Fetal anomalies v1.289 WDR81 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.289 WDR81 Arina Puzriakova Gene: wdr81 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.288 WDR81 Arina Puzriakova Tag for-review tag was added to gene: WDR81.
Fetal anomalies v1.288 MYOCD Arina Puzriakova Mode of inheritance for gene: MYOCD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.287 MYOCD Arina Puzriakova Publications for gene: MYOCD were set to
Fetal anomalies v1.286 MYOCD Arina Puzriakova Phenotypes for gene: MYOCD were changed from Megabladder, congenital to Megabladder, congenital, OMIM:618719; Megabladder, congenital, MONDO:0032879
Fetal anomalies v1.285 MYOCD Arina Puzriakova Classified gene: MYOCD as Amber List (moderate evidence)
Fetal anomalies v1.285 MYOCD Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.285 MYOCD Arina Puzriakova Gene: myocd has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.284 MYOCD Arina Puzriakova Tag for-review tag was added to gene: MYOCD.
Fetal anomalies v1.284 MYO9A Arina Puzriakova Publications for gene: MYO9A were set to
Fetal anomalies v1.283 MYO9A Arina Puzriakova Phenotypes for gene: MYO9A were changed from Myasthenic syndrome, congenital, 24, presynaptic to Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198; Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597
Fetal anomalies v1.282 MYO9A Arina Puzriakova Classified gene: MYO9A as Amber List (moderate evidence)
Fetal anomalies v1.282 MYO9A Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.282 MYO9A Arina Puzriakova Gene: myo9a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.281 MYO9A Arina Puzriakova Tag for-review tag was added to gene: MYO9A.
Fetal anomalies v1.281 MYO18B Arina Puzriakova Publications for gene: MYO18B were set to
Fetal anomalies v1.280 MYO18B Arina Puzriakova Phenotypes for gene: MYO18B were changed from Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549; Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689
Fetal anomalies v1.279 MYO18B Arina Puzriakova Classified gene: MYO18B as Amber List (moderate evidence)
Fetal anomalies v1.279 MYO18B Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.279 MYO18B Arina Puzriakova Gene: myo18b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.278 MYO18B Arina Puzriakova Tag for-review tag was added to gene: MYO18B.
Fetal anomalies v1.278 MYMK Arina Puzriakova Publications for gene: MYMK were set to
Fetal anomalies v1.277 MYMK Arina Puzriakova Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome to Carey-Fineman-Ziter syndrome, OMIM:254940; Carey-Fineman-Ziter syndrome, MONDO:0009700
Fetal anomalies v1.276 MYMK Arina Puzriakova Classified gene: MYMK as Amber List (moderate evidence)
Fetal anomalies v1.276 MYMK Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.276 MYMK Arina Puzriakova Gene: mymk has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.275 MYMK Arina Puzriakova Tag for-review tag was added to gene: MYMK.
Fetal anomalies v1.275 MYL1 Arina Puzriakova Phenotypes for gene: MYL1 were changed from Myopathy, congenital, with fast-twitch (type II) fiber atrophy to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414; Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
Fetal anomalies v1.274 MYL1 Arina Puzriakova Publications for gene: MYL1 were set to PMID: 30215711
Fetal anomalies v1.273 MYL1 Arina Puzriakova Classified gene: MYL1 as Amber List (moderate evidence)
Fetal anomalies v1.273 MYL1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.273 MYL1 Arina Puzriakova Gene: myl1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.272 MYL1 Arina Puzriakova Tag for-review tag was added to gene: MYL1.
Fetal anomalies v1.272 MYH7 Arina Puzriakova Phenotypes for gene: MYH7 were changed from Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Laing distal myopathy; Left ventricular noncompaction 5 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262; Left ventricular noncompaction 5, OMIM:613426
Fetal anomalies v1.271 MYH7 Arina Puzriakova Publications for gene: MYH7 were set to PMID: 22859017; 25547560; 26337809
Fetal anomalies v1.270 MYH7 Arina Puzriakova Classified gene: MYH7 as Amber List (moderate evidence)
Fetal anomalies v1.270 MYH7 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.270 MYH7 Arina Puzriakova Gene: myh7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.269 MYH7 Arina Puzriakova Tag for-review tag was added to gene: MYH7.
Fetal anomalies v1.269 MYH2 Arina Puzriakova Publications for gene: MYH2 were set to
Fetal anomalies v1.268 MYH2 Arina Puzriakova Phenotypes for gene: MYH2 were changed from Proximal myopathy and ophthalmoplegia to Proximal myopathy and ophthalmoplegia, OMIM:605637; Myopathy, proximal, and ophthalmoplegia, MONDO:0011577
Fetal anomalies v1.267 MYH2 Arina Puzriakova Mode of inheritance for gene: MYH2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.266 MYH2 Arina Puzriakova Classified gene: MYH2 as Amber List (moderate evidence)
Fetal anomalies v1.266 MYH2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.266 MYH2 Arina Puzriakova Gene: myh2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.265 MYH2 Arina Puzriakova Tag for-review tag was added to gene: MYH2.
Fetal anomalies v1.265 MSTO1 Arina Puzriakova Publications for gene: MSTO1 were set to
Fetal anomalies v1.264 MSTO1 Arina Puzriakova Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia to Myopathy, mitochondrial, and ataxia, OMIM:617675; Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714
Fetal anomalies v1.263 MSTO1 Arina Puzriakova Classified gene: MSTO1 as Amber List (moderate evidence)
Fetal anomalies v1.263 MSTO1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.263 MSTO1 Arina Puzriakova Gene: msto1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.262 MSTO1 Arina Puzriakova Tag for-review tag was added to gene: MSTO1.
Fetal anomalies v1.262 MSMO1 Arina Puzriakova Publications for gene: MSMO1 were set to
Fetal anomalies v1.261 MSMO1 Arina Puzriakova Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis to Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Fetal anomalies v1.260 MSMO1 Arina Puzriakova Classified gene: MSMO1 as Amber List (moderate evidence)
Fetal anomalies v1.260 MSMO1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.260 MSMO1 Arina Puzriakova Gene: msmo1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.259 MSMO1 Arina Puzriakova Tag for-review tag was added to gene: MSMO1.
Fetal anomalies v1.259 MRAS Arina Puzriakova Classified gene: MRAS as Amber List (moderate evidence)
Fetal anomalies v1.259 MRAS Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.259 MRAS Arina Puzriakova Gene: mras has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.258 MRAS Arina Puzriakova Tag for-review tag was added to gene: MRAS.
Fetal anomalies v1.258 MRAS Arina Puzriakova Publications for gene: MRAS were set to
Fetal anomalies v1.257 MRAS Arina Puzriakova Phenotypes for gene: MRAS were changed from Noonan syndrome 11 to Noonan syndrome 11, OMIM:618499; Noonan syndrome 11, MONDO:0032786
Fetal anomalies v1.256 MESD Arina Puzriakova Publications for gene: MESD were set to
Fetal anomalies v1.255 MESD Arina Puzriakova Phenotypes for gene: MESD were changed from Osteogenesis imperfecta, type XX to Osteogenesis imperfecta, type XX, OMIM:618644; Osteogenesis imperfecta, type 20, MONDO:0032846
Fetal anomalies v1.254 MESD Arina Puzriakova Classified gene: MESD as Amber List (moderate evidence)
Fetal anomalies v1.254 MESD Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.254 MESD Arina Puzriakova Gene: mesd has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.253 MESD Arina Puzriakova Tag for-review tag was added to gene: MESD.
Fetal anomalies v1.253 MEIS2 Arina Puzriakova Phenotypes for gene: MEIS2 were changed from Cleft palate, cardiac defects, and mental retardation to Cleft palate, cardiac defects, and mental retardation, OMIM:600987; Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970
Fetal anomalies v1.252 MEIS2 Arina Puzriakova Publications for gene: MEIS2 were set to
Fetal anomalies v1.251 MEIS2 Arina Puzriakova Classified gene: MEIS2 as Amber List (moderate evidence)
Fetal anomalies v1.251 MEIS2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.251 MEIS2 Arina Puzriakova Gene: meis2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.250 MEIS2 Arina Puzriakova Tag for-review tag was added to gene: MEIS2.
Fetal anomalies v1.250 MAP3K20 Arina Puzriakova Publications for gene: MAP3K20 were set to
Fetal anomalies v1.249 MAP3K20 Arina Puzriakova Phenotypes for gene: MAP3K20 were changed from Split-foot malformation with mesoaxial polydactyly; Centronuclear myopathy 6 with fiber-type disproportion to Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760; Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695; Split-foot malformation with mesoaxial polydactyly, OMIM:616890; Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816
Fetal anomalies v1.248 MAP3K20 Arina Puzriakova Classified gene: MAP3K20 as Amber List (moderate evidence)
Fetal anomalies v1.248 MAP3K20 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.248 MAP3K20 Arina Puzriakova Gene: map3k20 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.247 MAP3K20 Arina Puzriakova Tag for-review tag was added to gene: MAP3K20.
Fetal anomalies v1.247 MACF1 Arina Puzriakova Publications for gene: MACF1 were set to
Fetal anomalies v1.246 MACF1 Arina Puzriakova Phenotypes for gene: MACF1 were changed from Lissencephaly 9 with complex brainstem malformation to Lissencephaly 9 with complex brainstem malformation, OMIM:618325; Lissencephaly 9 with complex brainstem malformation, MONDO:0032677
Fetal anomalies v1.245 MACF1 Arina Puzriakova Classified gene: MACF1 as Amber List (moderate evidence)
Fetal anomalies v1.245 MACF1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.245 MACF1 Arina Puzriakova Gene: macf1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.244 MACF1 Arina Puzriakova Tag for-review tag was added to gene: MACF1.
Fetal anomalies v1.244 LRRC56 Arina Puzriakova Publications for gene: LRRC56 were set to
Fetal anomalies v1.243 LRRC56 Arina Puzriakova Phenotypes for gene: LRRC56 were changed from Ciliary dyskinesia, primary, 39 to Ciliary dyskinesia, primary, 39, OMIM:618254; Ciliary dyskinesia, primary, 39, MONDO:0032637
Fetal anomalies v1.242 LRRC56 Arina Puzriakova Classified gene: LRRC56 as Amber List (moderate evidence)
Fetal anomalies v1.242 LRRC56 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.242 LRRC56 Arina Puzriakova Gene: lrrc56 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.241 LRRC56 Arina Puzriakova Tag for-review tag was added to gene: LRRC56.
Fetal anomalies v1.241 KNL1 Arina Puzriakova Publications for gene: KNL1 were set to
Fetal anomalies v1.240 KNL1 Arina Puzriakova Phenotypes for gene: KNL1 were changed from Microcephaly 4, primary, autosomal recessive to Microcephaly 4, primary, autosomal recessive, OMIM:604321; Microcephaly 4, primary, autosomal recessive, MONDO:0011437
Fetal anomalies v1.239 KNL1 Arina Puzriakova Classified gene: KNL1 as Amber List (moderate evidence)
Fetal anomalies v1.239 KNL1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.239 KNL1 Arina Puzriakova Gene: knl1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.238 KNL1 Arina Puzriakova Tag for-review tag was added to gene: KNL1.
Fetal anomalies v1.238 KIAA0753 Arina Puzriakova Classified gene: KIAA0753 as Amber List (moderate evidence)
Fetal anomalies v1.238 KIAA0753 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.238 KIAA0753 Arina Puzriakova Gene: kiaa0753 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.237 KIAA0753 Arina Puzriakova Publications for gene: KIAA0753 were set to
Fetal anomalies v1.236 KIAA0753 Arina Puzriakova Phenotypes for gene: KIAA0753 were changed from ?Orofaciodigital syndrome XV to ?Orofaciodigital syndrome XV, OMIM:617127; Orofaciodigital syndrome XV, MONDO:0014932
Fetal anomalies v1.235 KIAA0753 Arina Puzriakova Tag for-review tag was added to gene: KIAA0753.
Fetal anomalies v1.235 KATNB1 Arina Puzriakova Publications for gene: KATNB1 were set to
Fetal anomalies v1.234 KATNB1 Arina Puzriakova Phenotypes for gene: KATNB1 were changed from Lissencephaly 6, with microcephaly to Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534
Fetal anomalies v1.233 KATNB1 Arina Puzriakova Classified gene: KATNB1 as Amber List (moderate evidence)
Fetal anomalies v1.233 KATNB1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.233 KATNB1 Arina Puzriakova Gene: katnb1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.232 KATNB1 Arina Puzriakova Tag for-review tag was added to gene: KATNB1.
Fetal anomalies v1.232 IFT81 Arina Puzriakova Publications for gene: IFT81 were set to
Fetal anomalies v1.231 IFT81 Arina Puzriakova Phenotypes for gene: IFT81 were changed from Short-rib thoracic dysplasia 19 with or without polydactyly to Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895; Short-rib thoracic dysplasia 19 with or without polydactyly, MONDO:0033485
Fetal anomalies v1.230 IFT81 Arina Puzriakova Classified gene: IFT81 as Amber List (moderate evidence)
Fetal anomalies v1.230 IFT81 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.230 IFT81 Arina Puzriakova Gene: ift81 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.229 IFT81 Arina Puzriakova Tag for-review tag was added to gene: IFT81.
Fetal anomalies v1.229 MYPN Rhiannon Mellis gene: MYPN was added
gene: MYPN was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYPN were set to Nemaline myopathy 11, autosomal recessive, 617336
Review for gene: MYPN was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.229 ALG2 Rhiannon Mellis reviewed gene: ALG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228, ?Congenital disorder of glycosylation, type Ii, 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 ALG9 Rhiannon Mellis reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Il, 608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 ALOX12B Rhiannon Mellis gene: ALOX12B was added
gene: ALOX12B was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100
Review for gene: ALOX12B was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.229 ALOXE3 Rhiannon Mellis gene: ALOXE3 was added
gene: ALOXE3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545
Review for gene: ALOXE3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.229 AMACR Rhiannon Mellis gene: AMACR was added
gene: AMACR was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency, 614307
Review for gene: AMACR was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Peroxisomal disorders
Sources: Expert list
Fetal anomalies v1.229 AMMECR1 Rhiannon Mellis gene: AMMECR1 was added
gene: AMMECR1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990
Review for gene: AMMECR1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): IUGR and IGF abnormalities
Sources: Expert list
Fetal anomalies v1.229 ANKS6 Rhiannon Mellis gene: ANKS6 was added
gene: ANKS6 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANKS6 were set to Nephronophthisis 16, 615382
Review for gene: ANKS6 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel
Sources: Expert list
Fetal anomalies v1.229 ANTXR2 Rhiannon Mellis reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30176098, 14508707, 20301698; Phenotypes: Hyaline fibromatosis syndrome, 228600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 ARFGEF2 Rhiannon Mellis reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Periventricular heterotopia with microcephaly, 608097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 ARHGAP29 Rhiannon Mellis gene: ARHGAP29 was added
gene: ARHGAP29 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ARHGAP29 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARHGAP29 were set to cleft lip with or without cleft palate; Cleft palate
Review for gene: ARHGAP29 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Clefting
Sources: Expert list
Fetal anomalies v1.229 ATR Rhiannon Mellis reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Seckel syndrome 1, 210600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 B3GALNT2 Rhiannon Mellis reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23453667; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 B4GAT1 Rhiannon Mellis gene: B4GAT1 was added
gene: B4GAT1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GAT1 were set to PMID: 23877401; 23359570
Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287
Review for gene: B4GAT1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders

Additional comment: Severe structural brain phenotype and dysplastic kidneys, reported onset in utero. PMID: 23877401; PMID: 23359570
Sources: Expert list
Fetal anomalies v1.229 BNC2 Rhiannon Mellis gene: BNC2 was added
gene: BNC2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital, 618612
Review for gene: BNC2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.229 C21orf59 Rhiannon Mellis reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 26, 615500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 C2CD3 Rhiannon Mellis reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XIV, 615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CACNA1G Rhiannon Mellis gene: CACNA1G was added
gene: CACNA1G was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087
Review for gene: CACNA1G was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebellar hypoplasia
Sources: Expert list
Fetal anomalies v1.229 CANT1 Rhiannon Mellis gene: CANT1 was added
gene: CANT1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CANT1 were set to Epiphyseal dysplasia, multiple, 7, 617719; Desbuquois dysplasia 1, 251450
Review for gene: CANT1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.229 CASR Rhiannon Mellis gene: CASR was added
gene: CASR was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, 601198; Hypocalciuric hypercalcemia, type I, 145980; Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198
Review for gene: CASR was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.229 CCDC151 Rhiannon Mellis reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 30, 616037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CCDC8 Rhiannon Mellis reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-M syndrome 3, 614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CCDC88C Rhiannon Mellis reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus, congenital, 1, 236600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CDK5RAP2 Rhiannon Mellis reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 3, primary, autosomal recessive, 604804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CELSR1 Rhiannon Mellis gene: CELSR1 was added
gene: CELSR1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CELSR1 were set to hereditary lymphedema
Review for gene: CELSR1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Primary lymphoedema
Sources: Expert list
Fetal anomalies v1.229 CENPF Rhiannon Mellis gene: CENPF was added
gene: CENPF was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPF were set to PMID: 26820108; 25564561
Phenotypes for gene: CENPF were set to Stromme syndrome, 243605
Review for gene: CENPF was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel); Hydrocephalus; Limb disorders; Rare multisystem ciliopathy Super panel; Severe microcephaly

Additional comment: Fetal phenotype (ciliopathy) reported in PMID: 26820108 and PMID: 25564561
Sources: Expert list
Fetal anomalies v1.229 CEP135 Rhiannon Mellis reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CEP55 Rhiannon Mellis reviewed gene: CEP55: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CEP63 Rhiannon Mellis reviewed gene: CEP63: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Seckel syndrome 6, 614728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CERS3 Rhiannon Mellis gene: CERS3 was added
gene: CERS3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023
Review for gene: CERS3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.229 CFL2 Rhiannon Mellis reviewed gene: CFL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 7, autosomal recessive, 610687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CHMP1A Rhiannon Mellis reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 8, 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CHRNA3 Rhiannon Mellis gene: CHRNA3 was added
gene: CHRNA3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA3 were set to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800
Review for gene: CHRNA3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.229 CHRNB1 Rhiannon Mellis gene: CHRNB1 was added
gene: CHRNB1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Review for gene: CHRNB1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.229 CHRNE Rhiannon Mellis gene: CHRNE was added
gene: CHRNE was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931
Review for gene: CHRNE was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders

Additional comment: Phenotype on OMIM reported as including arthrogryposis multiplex in severe cases. Decreased fetal movements in some cases.
Sources: Expert list
Fetal anomalies v1.229 CIT Rhiannon Mellis reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 17, primary, autosomal recessive, 617090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CLP1 Rhiannon Mellis reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 10, 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CNBP Rhiannon Mellis gene: CNBP was added
gene: CNBP was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CNBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CNBP were set to Myotonic dystrophy 2, 602668
Review for gene: CNBP was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.229 COG5 Rhiannon Mellis reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIi, 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 COG6 Rhiannon Mellis gene: COG6 was added
gene: COG6 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, 614576; Shaheen syndrome, 615328
Review for gene: COG6 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Congenital disorders of glycosylation
Sources: Expert list
Fetal anomalies v1.229 IFT52 Arina Puzriakova Publications for gene: IFT52 were set to
Fetal anomalies v1.228 COL12A1 Rhiannon Mellis gene: COL12A1 was added
gene: COL12A1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: COL12A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL12A1 were set to Bethlem myopathy 2, 616471; ?Ullrich congenital muscular dystrophy 2, 616470
Review for gene: COL12A1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis

Additional comment: At least three affected families with Bethlem myopathy which is associated with early contractures (?congenital) as well as two brothers with Ulrich congenital muscular dystrophy which is associated with arthrogryposis
Sources: Expert list
Fetal anomalies v1.228 COL13A1 Rhiannon Mellis reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 19, 616720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.228 COLEC10 Rhiannon Mellis reviewed gene: COLEC10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3MC syndrome 3, 248340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.228 COLQ Rhiannon Mellis gene: COLQ was added
gene: COLQ was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLQ were set to PMID: 9689136; 11865139
Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034
Review for gene: COLQ was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis

Additional comment: I can’t see any reported cases specifically with arthrogryposis, but some cases presented at birth with hypotonia/weakness/fatigability. PMID: 9689136; 11865139. Therefore included on basis of severe neonatal phenotype that may conceivably also present prenatally.
Sources: Expert list
Fetal anomalies v1.228 CREB3L1 Rhiannon Mellis gene: CREB3L1 was added
gene: CREB3L1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI, 616229
Review for gene: CREB3L1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.228 CRIPT Rhiannon Mellis gene: CRIPT was added
gene: CRIPT was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRIPT were set to Short stature with microcephaly and distinctive facies, 615789
Review for gene: CRIPT was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): IUGR and IGF abnormalities
Sources: Expert list
Fetal anomalies v1.228 CTU2 Rhiannon Mellis gene: CTU2 was added
gene: CTU2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142
Review for gene: CTU2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.228 CYP26B1 Rhiannon Mellis gene: CYP26B1 was added
gene: CYP26B1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
Review for gene: CYP26B1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Craniosynostosis
Sources: Expert list
Fetal anomalies v1.228 CYP4F22 Rhiannon Mellis gene: CYP4F22 was added
gene: CYP4F22 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777
Review for gene: CYP4F22 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.228 DDX59 Rhiannon Mellis reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome V, 174300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.228 IFT52 Arina Puzriakova Phenotypes for gene: IFT52 were changed from Short-rib thoracic dysplasia 16 with or without polydactyly to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
Fetal anomalies v1.227 DENND5A Rhiannon Mellis reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 49, 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.227 IFT52 Arina Puzriakova Classified gene: IFT52 as Amber List (moderate evidence)
Fetal anomalies v1.227 IFT52 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.227 IFT52 Arina Puzriakova Gene: ift52 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.226 IFT52 Arina Puzriakova Tag for-review tag was added to gene: IFT52.
Fetal anomalies v1.226 DIAPH1 Rhiannon Mellis gene: DIAPH1 was added
gene: DIAPH1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIAPH1 were set to Seizures, cortical blindness, microcephaly syndrome, 616632
Review for gene: DIAPH1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Severe microcephaly
Sources: Expert list
Fetal anomalies v1.226 DISP1 Rhiannon Mellis gene: DISP1 was added
gene: DISP1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DISP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DISP1 were set to 27363716
Phenotypes for gene: DISP1 were set to Holoprosencephaly
Review for gene: DISP1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebral malformations; Holoprosencephaly
Sources: Expert list
Fetal anomalies v1.226 IDH1 Arina Puzriakova Classified gene: IDH1 as Amber List (moderate evidence)
Fetal anomalies v1.226 IDH1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.226 IDH1 Arina Puzriakova Gene: idh1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.225 IDH1 Arina Puzriakova Tag for-review tag was added to gene: IDH1.
Fetal anomalies v1.225 DLX5 Rhiannon Mellis gene: DLX5 was added
gene: DLX5 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DLX5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DLX5 were set to ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600; Split-hand/foot malformation 1, 183600
Review for gene: DLX5 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Limb disorders; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.225 DNAAF2 Rhiannon Mellis gene: DNAAF2 was added
gene: DNAAF2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF2 were set to Ciliary dyskinesia, primary, 10, 612518
Review for gene: DNAAF2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Primary ciliary disorders
Sources: Expert list
Fetal anomalies v1.225 DNAAF5 Rhiannon Mellis reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 18,614874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.225 DNAI2 Rhiannon Mellis gene: DNAI2 was added
gene: DNAI2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus,612444
Review for gene: DNAI2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders
Sources: Expert list
Fetal anomalies v1.225 DNAJB11 Rhiannon Mellis gene: DNAJB11 was added
gene: DNAJB11 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease, 618061
Review for gene: DNAJB11 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel); Polycystic liver disease
Sources: Expert list
Fetal anomalies v1.225 DNAL1 Rhiannon Mellis gene: DNAL1 was added
gene: DNAL1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAL1 were set to Ciliary dyskinesia, primary, 16, 614017
Review for gene: DNAL1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Primary ciliary disorders

Additional comment: causes situs inversus
Sources: Expert list
Fetal anomalies v1.225 DNM1L Rhiannon Mellis gene: DNM1L was added
gene: DNM1L was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388
Review for gene: DNM1L was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Peroxisomal disorders
Sources: Expert list
Fetal anomalies v1.225 ICK Arina Puzriakova Publications for gene: ICK were set to
Fetal anomalies v1.224 ICK Arina Puzriakova commented on gene: ICK: Added new-gene-name tag, new approved HGNC gene symbol for ICK is CILK1
Fetal anomalies v1.224 ICK Arina Puzriakova Tag new-gene-name tag was added to gene: ICK.
Fetal anomalies v1.224 ICK Arina Puzriakova Phenotypes for gene: ICK were changed from Endocrine-cerebroosteodysplasia to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Fetal anomalies v1.223 ICK Arina Puzriakova Classified gene: ICK as Amber List (moderate evidence)
Fetal anomalies v1.223 ICK Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.223 ICK Arina Puzriakova Gene: ick has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.222 ICK Arina Puzriakova Tag for-review tag was added to gene: ICK.
Fetal anomalies v1.222 HMGA2 Arina Puzriakova Publications for gene: HMGA2 were set to
Fetal anomalies v1.221 HMGA2 Arina Puzriakova Phenotypes for gene: HMGA2 were changed from Silver-Russell syndrome 5 to Silver-Russell syndrome 5, OMIM:618908; Silver-Russell syndrome 5, MONDO:0020795
Fetal anomalies v1.220 HMGA2 Arina Puzriakova Tag for-review tag was added to gene: HMGA2.
Fetal anomalies v1.220 HMGA2 Arina Puzriakova Classified gene: HMGA2 as Amber List (moderate evidence)
Fetal anomalies v1.220 HMGA2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.220 HMGA2 Arina Puzriakova Gene: hmga2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.219 GDF2 Arina Puzriakova Classified gene: GDF2 as Red List (low evidence)
Fetal anomalies v1.219 GDF2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single family with 2 sibs affected by lymphatic dysplasia, hydrothorax and nonimmune hydrops fetalis. Homozygous truncating variant in GDF2 was detected which segregated with the disorder (PMID:32618121).

Rating Red as additional cases/functional evidence required to corroborate this gene-disease association.
Fetal anomalies v1.219 GDF2 Arina Puzriakova Gene: gdf2 has been classified as Red List (Low Evidence).
Fetal anomalies v1.218 AKT2 Arina Puzriakova Publications for gene: AKT2 were set to
Fetal anomalies v1.217 AKT2 Arina Puzriakova Phenotypes for gene: AKT2 were changed from Hypoinsulinemic hypoglycemia with hemihypertrophy to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
Fetal anomalies v1.216 AKT2 Arina Puzriakova Classified gene: AKT2 as Amber List (moderate evidence)
Fetal anomalies v1.216 AKT2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.216 AKT2 Arina Puzriakova Gene: akt2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.215 AKT2 Arina Puzriakova Tag for-review tag was added to gene: AKT2.
Fetal anomalies v1.215 DNM2 Rhiannon Mellis gene: DNM2 was added
gene: DNM2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DNM2 were set to PMID: 30208955
Phenotypes for gene: DNM2 were set to Lethal congenital contracture syndrome 5, 615368
Review for gene: DNM2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis

Additional comment: AR Phenotype = lethal congenital contracture syndrome – definite prenatal phenotype with arthrogryposis, decreased fetal movements, polyhydramnios. Mutations only identified in three siblings although supported by animal models --> Moderate evidence for arthrogryposis --> Made green on arthrogryposis panel after internal discussion (Jan 2017)

NB in 2018 a further report of 3 unrelated cases with heterozygous DNM2 pathogenic variants with a more severe phenotype than usual for the AD disease (centronuclear myopathy) – all 3 had severe hypotonia and respiratory distress from birth. 1 had reduced fetal movements, polyhydramnios, distal contractures at birth (born at 29/40). 1 had micrognathia and clenched fists prenatally, multiple contractures at birth. All 3 were ventilator-dependent and died within first few months of life. (i.e. some overlap with the lethal congenital contracture phenotype despite heterozygous variants). PMID: 30208955
Sources: Expert list
Fetal anomalies v1.215 DONSON Rhiannon Mellis gene: DONSON was added
gene: DONSON was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DONSON were set to Microcephaly-micromelia syndrome, 251230; Microcephaly, short stature, and limb abnormalities, 617604
Review for gene: DONSON was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Severe microcephaly
Sources: Expert list
Fetal anomalies v1.215 DPM2 Rhiannon Mellis gene: DPM2 was added
gene: DPM2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu, 615042
Review for gene: DPM2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.215 DPM3 Rhiannon Mellis reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.215 DYNC2LI1 Rhiannon Mellis gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly, 617088
Review for gene: DYNC2LI1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Clefting; Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies
Sources: Expert list
Fetal anomalies v1.215 DZIP1L Rhiannon Mellis gene: DZIP1L was added
gene: DZIP1L was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DZIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DZIP1L were set to Polycystic kidney disease 5, 617610
Review for gene: DZIP1L was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel)
Sources: Expert list
Fetal anomalies v1.215 EED Rhiannon Mellis reviewed gene: EED: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cohen-Gibson syndrome, 617561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.215 EIF2S3 Rhiannon Mellis reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MEHMO syndrome, 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.215 EML1 Rhiannon Mellis gene: EML1 was added
gene: EML1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EML1 were set to Band heterotopia, 600348
Review for gene: EML1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Hydrocephalus
Sources: Expert list
Fetal anomalies v1.215 EMX2 Rhiannon Mellis gene: EMX2 was added
gene: EMX2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EMX2 were set to Schizencephaly, 269160
Review for gene: EMX2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebral malformations; Malformations of cortical development
Sources: Expert list
Fetal anomalies v1.215 FAM46A Rhiannon Mellis gene: FAM46A was added
gene: FAM46A was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type XVIII
Review for gene: FAM46A was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.215 FANCL Rhiannon Mellis reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group L; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.215 FIG4 Rhiannon Mellis reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Yunis-Varon syndrome, Charcot-Marie-Tooth disease, type 4J, ?Polymicrogyria, bilateral temporooccipital; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.215 FKBP10 Rhiannon Mellis gene: FKBP10 was added
gene: FKBP10 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP10 were set to Bruck syndrome 1; Osteogenesis imperfecta, type XI
Review for gene: FKBP10 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.215 FUT8 Rhiannon Mellis gene: FUT8 was added
gene: FUT8 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation 1
Review for gene: FUT8 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Congenital disorders of glycosylation
Sources: Expert list
Fetal anomalies v1.215 FZD2 Rhiannon Mellis gene: FZD2 was added
gene: FZD2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FZD2 were set to Omodysplasia 2
Review for gene: FZD2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Limb disorders; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.215 GALNT2 Rhiannon Mellis gene: GALNT2 was added
gene: GALNT2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt
Review for gene: GALNT2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Congenital disorders of glycosylation
Sources: Expert list
Fetal anomalies v1.215 GANAB Rhiannon Mellis gene: GANAB was added
gene: GANAB was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GANAB were set to Polycystic kidney disease 3
Review for gene: GANAB was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel); Polycystic liver disease
Sources: Expert list
Fetal anomalies v1.215 GATA3 Rhiannon Mellis gene: GATA3 was added
gene: GATA3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia
Review for gene: GATA3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.215 GFPT1 Rhiannon Mellis gene: GFPT1 was added
gene: GFPT1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Congenital disorders of glycosylation
Sources: Expert list
Fetal anomalies v1.215 GFRA1 Arina Puzriakova Classified gene: GFRA1 as Amber List (moderate evidence)
Fetal anomalies v1.215 GFRA1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Two unrelated families with non-syndromic bilateral renal agenesis, detected during the prenatal period, and distinct homozygous LoF variants in GFRA1. Animal models support a role in renal morphogenesis (PMID:33020172).

Rating Amber awaiting further cases/clinical evidence prior to inclusion as diagnositc-grade.
Fetal anomalies v1.215 GFRA1 Arina Puzriakova Gene: gfra1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.214 GLI1 Rhiannon Mellis gene: GLI1 was added
gene: GLI1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GLI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLI1 were set to Polydactyly, postaxial, type A8 618123; Polydactyly, preaxial I 174400
Review for gene: GLI1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Limb disorders
Sources: Expert list
Fetal anomalies v1.214 GMNN Rhiannon Mellis reviewed gene: GMNN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 6 OMIM 616835; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.214 GPC6 Rhiannon Mellis reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Omodysplasia 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 GREB1L Rhiannon Mellis changed review comment from: Further cases of renal agenesis with GREBL1 pathogenic variants reported by Herlin et al, 2019 and Jacquinet et al 2020 (see below). However I note this gene has recently been changed from Green to Amber at NHSE request.

PMID: 31424080: One family including a preterm infant with bilateral renal agenesis and Potters sequence.
PMID: 32378186: Four families including fetuses with uterovaginal aplasia and bilateral renal agenesis.; to: Further cases of renal agenesis with GREBL1 pathogenic variants reported by Herlin et al, 2019 and Jacquinet et al 2020 (see below).

PMID: 31424080: One family including a preterm infant with bilateral renal agenesis and Potters sequence.
PMID: 32378186: Four families including fetuses with uterovaginal aplasia and bilateral renal agenesis.
Fetal anomalies v1.214 GSC Rhiannon Mellis gene: GSC was added
gene: GSC was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSC were set to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
Review for gene: GSC was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.214 GZF1 Rhiannon Mellis reviewed gene: GZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joint laxity, short stature, and myopia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 HADHB Rhiannon Mellis gene: HADHB was added
gene: HADHB was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency
Review for gene: HADHB was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders

Additional comment: Different clinical forms, including rapidly progressive neonatal onset with early death - associated with hydrops prenatally
Sources: Expert list
Fetal anomalies v1.214 HESX1 Rhiannon Mellis reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Septooptic dysplasia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.214 HIST1H1E Rhiannon Mellis reviewed gene: HIST1H1E: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rahman syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.214 HMGA2 Rhiannon Mellis gene: HMGA2 was added
gene: HMGA2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HMGA2 were set to Silver-Russell syndrome 5
Review for gene: HMGA2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Silver Russell syndrome
Sources: Expert list
Fetal anomalies v1.214 ICK Rhiannon Mellis gene: ICK was added
gene: ICK was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia
Review for gene: ICK was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Clefting; Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies
Sources: Expert list
Fetal anomalies v1.214 IDH1 Rhiannon Mellis gene: IDH1 was added
gene: IDH1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IDH1 were set to 22025298; 22057236; 22057234; 24049096
Phenotypes for gene: IDH1 were set to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000
Review for gene: IDH1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia

Copied from skeletal dysplasias panel: Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD), disorganized development of skeletal components gp of SD - Somatic mosaicism seen in at least 3 cases with enchondromatosis (various types)/ metaphyseal chondromatosis. amber/green -Somatic mosaic missense variants in enchondromas. Listed in Bonafe (MetaphysealchondromatosiswithD-2-hydroxyglutaric aciduria).
Sources: Expert list
Fetal anomalies v1.214 IFT52 Rhiannon Mellis gene: IFT52 was added
gene: IFT52 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT52 were set to Short-rib thoracic dysplasia 16 with or without polydactyly
Review for gene: IFT52 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies
Sources: Expert list
Fetal anomalies v1.214 IFT81 Rhiannon Mellis gene: IFT81 was added
gene: IFT81 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly
Review for gene: IFT81 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies
Sources: Expert list
Fetal anomalies v1.214 ITGA8 Rhiannon Mellis reviewed gene: ITGA8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal hypodysplasia/aplasia 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 KATNB1 Rhiannon Mellis gene: KATNB1 was added
gene: KATNB1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly
Review for gene: KATNB1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebral malformations; Malformations of cortical development
Sources: Expert list
Fetal anomalies v1.214 KIAA0753 Rhiannon Mellis gene: KIAA0753 was added
gene: KIAA0753 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0753 were set to ?Orofaciodigital syndrome XV
Review for gene: KIAA0753 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.214 KIF2A Rhiannon Mellis reviewed gene: KIF2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.214 KIF5C Rhiannon Mellis reviewed gene: KIF5C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.214 KLHL7 Rhiannon Mellis reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PERCHING syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 KNL1 Rhiannon Mellis gene: KNL1 was added
gene: KNL1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KNL1 were set to Microcephaly 4, primary, autosomal recessive
Review for gene: KNL1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Severe microcephaly
Sources: Expert list
Fetal anomalies v1.214 LAMB1 Rhiannon Mellis reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 LONP1 Rhiannon Mellis reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CODAS syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 LRRC56 Rhiannon Mellis gene: LRRC56 was added
gene: LRRC56 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39
Review for gene: LRRC56 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Laterality disorders and isomerism
Sources: Expert list
Fetal anomalies v1.214 MACF1 Rhiannon Mellis gene: MACF1 was added
gene: MACF1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation
Review for gene: MACF1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebellar hypoplasia; Cerebral malformations; Malformations of cortical development
Sources: Expert list
Fetal anomalies v1.214 MAP3K20 Rhiannon Mellis gene: MAP3K20 was added
gene: MAP3K20 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAP3K20 were set to Split-foot malformation with mesoaxial polydactyly; Centronuclear myopathy 6 with fiber-type disproportion
Review for gene: MAP3K20 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.214 MAP3K7 Rhiannon Mellis reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontometaphyseal dysplasia 2, Cardiospondylocarpofacial syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.214 MEIS2 Rhiannon Mellis gene: MEIS2 was added
gene: MEIS2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MEIS2 were set to Cleft palate, cardiac defects, and mental retardation
Review for gene: MEIS2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Clefting
Sources: Expert list
Fetal anomalies v1.214 MEOX1 Rhiannon Mellis reviewed gene: MEOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Klippel-Feil syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 MESD Rhiannon Mellis gene: MESD was added
gene: MESD was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX
Review for gene: MESD was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Osteogenesis imperfecta
Sources: Expert list
Fetal anomalies v1.214 MOGS Rhiannon Mellis reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIb; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 MRAS Rhiannon Mellis gene: MRAS was added
gene: MRAS was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MRAS were set to Noonan syndrome 11
Review for gene: MRAS was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): RASopathies
Sources: Expert list
Fetal anomalies v1.214 MSMO1 Rhiannon Mellis gene: MSMO1 was added
gene: MSMO1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis
Review for gene: MSMO1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Severe microcephaly
Sources: Expert list
Fetal anomalies v1.214 MSTO1 Rhiannon Mellis gene: MSTO1 was added
gene: MSTO1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia
Review for gene: MSTO1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.214 MYH2 Rhiannon Mellis gene: MYH2 was added
gene: MYH2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia
Review for gene: MYH2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders

Additional comments: Congenital contractures in some which improve with time - Contractures at birth are described (in some cases) so could be detected prenatally.
Sources: Expert list
Fetal anomalies v1.214 MYH7 Rhiannon Mellis gene: MYH7 was added
gene: MYH7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH7 were set to PMID: 22859017; 25547560; 26337809
Phenotypes for gene: MYH7 were set to Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Laing distal myopathy; Left ventricular noncompaction 5
Review for gene: MYH7 was set to GREEN
Added comment: Currently Green on arthrogryposis panel but no clear association with arthrogryposis in literature, it seems to be a more a slowly progressive myopathy phenotype.

However, there are four reported cases of fetal cardiomyopathy related to MYH7, detectable on ultrasound. PMID: 22859017, PMID: 25547560, PMID: 26337809
Sources: Literature
Fetal anomalies v1.214 MYL1 Rhiannon Mellis gene: MYL1 was added
gene: MYL1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL1 were set to PMID: 30215711
Phenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy
Review for gene: MYL1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders

Additional comment: Predominant phenotype is severe hypotonia and respiratory failure from birth. 2 patients are reported: one had polyhydramnios and normal fetal movements, with mild flexion contractures at birth. The other had normal liquor volume, reduced fetal movements, no contractures. (PMID: 30215711). But severe neonatal phenotype so include as relevant.
Sources: Expert list
Fetal anomalies v1.214 MYMK Rhiannon Mellis gene: MYMK was added
gene: MYMK was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome
Review for gene: MYMK was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Clefting; Hydrocephalus; Neuromuscular disorders

Additional comment: Phenotype includes congenital contractures, talipes, Pierre-Robin sequence, clefts, reduced fetal movements.
Sources: Expert list
Fetal anomalies v1.214 MYO18B Rhiannon Mellis gene: MYO18B was added
gene: MYO18B was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO18B were set to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
Review for gene: MYO18B was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.214 MYO9A Rhiannon Mellis gene: MYO9A was added
gene: MYO9A was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic
Review for gene: MYO9A was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.214 MYOCD Rhiannon Mellis gene: MYOCD was added
gene: MYOCD was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYOCD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYOCD were set to Megabladder, congenital
Review for gene: MYOCD was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.214 NADSYN1 Rhiannon Mellis gene: NADSYN1 was added
gene: NADSYN1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NADSYN1 were set to Vertebral, cardiac, renal, and limb defects syndrome 3
Review for gene: NADSYN1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.214 NECTIN1 Rhiannon Mellis gene: NECTIN1 was added
gene: NECTIN1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome; Orofacial cleft 7
Review for gene: NECTIN1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Clefting
Sources: Expert list
Fetal anomalies v1.214 NEDD4L Rhiannon Mellis reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Periventricular nodular heterotopia 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.214 NEK8 Rhiannon Mellis reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 18199800, 23418306, 26967905, 26697755, 26862157; Phenotypes: NEPHRONOPHTHISIS 9, RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 TOR1A Arina Puzriakova Phenotypes for gene: TOR1A were changed from Arthrogryposis multiplex congenita 5 to Arthrogryposis multiplex congenita 5, OMIM:618947; Arthrogryposis multiplex congenita 5, MONDO:0100218
Fetal anomalies v1.213 NIPAL4 Rhiannon Mellis gene: NIPAL4 was added
gene: NIPAL4 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6
Review for gene: NIPAL4 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.213 NXN Rhiannon Mellis gene: NXN was added
gene: NXN was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2
Review for gene: NXN was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.213 TOR1A Arina Puzriakova Classified gene: TOR1A as Amber List (moderate evidence)
Fetal anomalies v1.213 TOR1A Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.213 TOR1A Arina Puzriakova Gene: tor1a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.212 TOR1A Arina Puzriakova Tag for-review tag was added to gene: TOR1A.
Fetal anomalies v1.212 TNNT3 Arina Puzriakova Tag for-review tag was added to gene: TNNT3.
Fetal anomalies v1.212 TNNT3 Arina Puzriakova Classified gene: TNNT3 as Amber List (moderate evidence)
Fetal anomalies v1.212 TNNT3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.212 TNNT3 Arina Puzriakova Gene: tnnt3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.211 OSGEP Rhiannon Mellis reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galloway-Mowat syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.211 P4HB Rhiannon Mellis reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cole-Carpenter syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.211 TNNT3 Arina Puzriakova Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B2 to Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750
Fetal anomalies v1.210 TNNT3 Arina Puzriakova Publications for gene: TNNT3 were set to 32779773
Fetal anomalies v1.209 PAX7 Rhiannon Mellis gene: PAX7 was added
gene: PAX7 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PAX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAX7 were set to Myopathy, congenital, progressive, with scoliosis
Review for gene: PAX7 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.209 PBX1 Rhiannon Mellis gene: PBX1 was added
gene: PBX1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Review for gene: PBX1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.209 PFKM Rhiannon Mellis gene: PFKM was added
gene: PFKM was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease VII
Review for gene: PFKM was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders

Additional comment: literature supports arthrogryposis in severe infantile form
Sources: Expert list, Literature
Fetal anomalies v1.209 PGM3 Rhiannon Mellis reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28543917, PMID: 24931394; Phenotypes: Immunodeficiency 23; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.209 PIBF1 Rhiannon Mellis gene: PIBF1 was added
gene: PIBF1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33
Review for gene: PIBF1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel
Sources: Expert list
Fetal anomalies v1.209 PIGN Rhiannon Mellis reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.209 TMX2 Arina Puzriakova Publications for gene: TMX2 were set to
Fetal anomalies v1.208 TMX2 Arina Puzriakova Phenotypes for gene: TMX2 were changed from Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
Fetal anomalies v1.207 TMX2 Arina Puzriakova Classified gene: TMX2 as Amber List (moderate evidence)
Fetal anomalies v1.207 TMX2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.207 TMX2 Arina Puzriakova Gene: tmx2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.206 TMX2 Arina Puzriakova Tag for-review tag was added to gene: TMX2.
Fetal anomalies v1.206 TMEM98 Arina Puzriakova Publications for gene: TMEM98 were set to
Fetal anomalies v1.205 PIH1D3 Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders
Sources: Expert list; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders
Sources: Expert list

Situs inversus in ~50%
Fetal anomalies v1.205 PIH1D3 Rhiannon Mellis gene: PIH1D3 was added
gene: PIH1D3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked
Review for gene: PIH1D3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders
Sources: Expert list
Fetal anomalies v1.205 PIK3C2A Rhiannon Mellis gene: PIK3C2A was added
gene: PIK3C2A was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome
Review for gene: PIK3C2A was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.205 PITX1 Rhiannon Mellis reviewed gene: PITX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, Liebenberg syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.205 PLAG1 Rhiannon Mellis gene: PLAG1 was added
gene: PLAG1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PLAG1 were set to Silver-Russell syndrome 4
Review for gene: PLAG1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Silver Russell syndrome
Sources: Expert list
Fetal anomalies v1.205 PLG Rhiannon Mellis gene: PLG was added
gene: PLG was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLG were set to Plasminogen deficiency, type I
Review for gene: PLG was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Hydrocephalus

Additional comment: structural features detectable prenatally = -Occlusive hydrocephalus, congenital; Dandy-Walker malformation; Cerebellar hypoplasia
Sources: Expert list
Fetal anomalies v1.205 PNPLA1 Rhiannon Mellis reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.205 POLG2 Rhiannon Mellis gene: POLG2 was added
gene: POLG2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Review for gene: POLG2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.205 POLR1A Rhiannon Mellis reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrofacial dysostosis, Cincinnati type; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.205 POP1 Rhiannon Mellis gene: POP1 was added
gene: POP1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2
Review for gene: POP1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.205 PRKAG2 Rhiannon Mellis gene: PRKAG2 was added
gene: PRKAG2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic 6; Glycogen storage disease of heart, lethal congenital
Review for gene: PRKAG2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.205 TMEM98 Arina Puzriakova Phenotypes for gene: TMEM98 were changed from Nanophthalmos 4 to Nanophthalmos 4, OMIM:615972; Nanophthalmos 4, MONDO:0014426
Fetal anomalies v1.204 TMEM98 Arina Puzriakova Classified gene: TMEM98 as Amber List (moderate evidence)
Fetal anomalies v1.204 TMEM98 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.204 TMEM98 Arina Puzriakova Gene: tmem98 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.203 PRUNE1 Rhiannon Mellis reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.203 TMEM98 Arina Puzriakova Tag for-review tag was added to gene: TMEM98.
Fetal anomalies v1.203 PSAT1 Rhiannon Mellis reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neu-Laxova syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.203 TMEM38B Arina Puzriakova Publications for gene: TMEM38B were set to
Fetal anomalies v1.202 PTPN14 Rhiannon Mellis reviewed gene: PTPN14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choanal atresia and lymphedema; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.202 PYGM Rhiannon Mellis gene: PYGM was added
gene: PYGM was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to McArdle disease
Review for gene: PYGM was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.202 TMEM38B Arina Puzriakova Phenotypes for gene: TMEM38B were changed from Osteogenesis imperfecta, type XIV to Osteogenesis imperfecta, type XIV, OMIM:615066; Osteogenesis imperfecta type 14, MONDO:0014029
Fetal anomalies v1.201 RAB33B Rhiannon Mellis gene: RAB33B was added
gene: RAB33B was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2
Review for gene: RAB33B was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.201 RBBP8 Rhiannon Mellis gene: RBBP8 was added
gene: RBBP8 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBBP8 were set to Seckel syndrome 2
Review for gene: RBBP8 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): IUGR and IGF abnormalities; Severe microcephaly
Sources: Expert list
Fetal anomalies v1.201 RBM10 Rhiannon Mellis reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: TARP syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.201 RFT1 Rhiannon Mellis reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type In; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.201 ROBO3 Rhiannon Mellis reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.201 TMEM38B Arina Puzriakova Classified gene: TMEM38B as Amber List (moderate evidence)
Fetal anomalies v1.201 TMEM38B Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.201 TMEM38B Arina Puzriakova Gene: tmem38b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.200 TMEM38B Arina Puzriakova Tag for-review tag was added to gene: TMEM38B.
Fetal anomalies v1.200 RPL10 Rhiannon Mellis gene: RPL10 was added
gene: RPL10 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35
Review for gene: RPL10 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): IUGR and IGF abnormalities; Severe microcephaly
Sources: Expert list
Fetal anomalies v1.200 TENM3 Arina Puzriakova Publications for gene: TENM3 were set to
Fetal anomalies v1.199 TENM3 Arina Puzriakova Phenotypes for gene: TENM3 were changed from Microphthalmia, syndromic 15; ?Microphthalmia, isolated, with coloboma 9 to Microphthalmia, syndromic 15, OMIM:615145; ?Microphthalmia, isolated, with coloboma 9, OMIM:615145; Microphthalmia, isolated, with coloboma 9, MONDO:0014059
Fetal anomalies v1.198 RPL35A Rhiannon Mellis reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.198 TENM3 Arina Puzriakova Classified gene: TENM3 as Amber List (moderate evidence)
Fetal anomalies v1.198 TENM3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.198 TENM3 Arina Puzriakova Gene: tenm3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.197 TENM3 Arina Puzriakova Tag for-review tag was added to gene: TENM3.
Fetal anomalies v1.197 RPS24 Rhiannon Mellis reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-blackfan anemia 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.197 TCTEX1D2 Arina Puzriakova Publications for gene: TCTEX1D2 were set to
Fetal anomalies v1.196 RPS7 Rhiannon Mellis gene: RPS7 was added
gene: RPS7 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8
Review for gene: RPS7 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Limb disorders; Radial dysplasia
Sources: Expert list
Fetal anomalies v1.196 RRAS2 Rhiannon Mellis gene: RRAS2 was added
gene: RRAS2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RRAS2 were set to Noonan syndrome 12
Review for gene: RRAS2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): RASopathies
Sources: Expert list
Fetal anomalies v1.196 TCTEX1D2 Arina Puzriakova Phenotypes for gene: TCTEX1D2 were changed from Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 to Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; Jeune asphyxiating thoracic dystrophy; JATD
Fetal anomalies v1.195 RSPH4A Rhiannon Mellis reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.195 RSPH9 Rhiannon Mellis reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.195 SCLT1 Rhiannon Mellis gene: SCLT1 was added
gene: SCLT1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCLT1 were set to No OMIM phenotype; Oro-facio-digital syndrome type IX; Senior-Løken Syndrome
Review for gene: SCLT1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel


Copied from rare multisystem ciliopathies panel:
PMID: 24285566 - Adly et al 2014 - 1 case with index patient with consanguineous Saudi parents and a severe ciliopathy phenotype. He had severe midline cleft lip and palate, microcephaly and choanal atresia. He also had significant eye involvement in the form of severe coloboma, and congenital heart disease (ASD and VSD). He had micropenis. Brain imaging revealed pachygyria and absent corpus callosum. He had abnormal inner ear structures. A splicing mutation was identified in SCLT1 (, NM_144643.2:exon5:c.290+2T>C). This mutation completely abolishes the consensus donor site of exon 5 as confirmed by RTPCR, which showed complete skipping of exon 5 resulting in a frameshift and introduction of a premature stop codon (p.Lys79Valfs*4),

PMID: 28005958 - de Castro-Miró et al 2016 - A cohort of 33 pedigrees affected with a variety of retinal disorders was analysed by WES. 1 case with compound heterozygosity (one missense and one splicing altering mutations) in SCLT1 that segregates with the condition in the family (2 affected siblings). Proposed to be causative of early-onset Retinitis Pigmentosa. SCLT1 is a member of the centrosomal/ciliary protein family.

PMID: 28486600 - Li et al 2017 - report a mouse model with mutated Sclt1 gene. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly.

PMID: 30425282 - Katagiri et al 2018 - a patient with Senior Løken syndrome and her unaffected parents revealed that the patient had infantile-onset retinal dystrophy and juvenile-onset nephronophthisis. Other systemic abnormalities included hepatic dysfunction, megacystis, mild learning disability, autism, obesity, and hyperinsulinemia. Whole-exome sequencing identified compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) in the patient. The unaffected parents were heterozygous for each variant. Transcript analysis using reverse transcription PCR demonstrated that the c.1218 + 3insT variant leads to exon 14 skipping (p.V383_M406del), while the other variant (c.1631A > G) primarily leads to exon 17 skipping (p.D480EfsX11) as well as minor amounts of two transcripts. Immunohistochemical analysis demonstrated that the Sclt1 protein was localized to the distal appendage of the photoreceptor basal body, indicating a ciliary protein.

= 3 cases plus a mouse model and functional evidence that the protein is a ciliary protein.
Sources: Literature
Fetal anomalies v1.195 TCTEX1D2 Arina Puzriakova Phenotypes for gene: TCTEX1D2 were changed from Short-rib thoracic dysplasia 17 with or without polydactyly to Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
Fetal anomalies v1.194 SDR9C7 Rhiannon Mellis gene: SDR9C7 was added
gene: SDR9C7 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13
Review for gene: SDR9C7 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.194 TCTEX1D2 Arina Puzriakova Classified gene: TCTEX1D2 as Amber List (moderate evidence)
Fetal anomalies v1.194 TCTEX1D2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.194 TCTEX1D2 Arina Puzriakova Gene: tctex1d2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.193 SEC24D Rhiannon Mellis reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25683121; Phenotypes: Cole-Carpenter syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.193 TCTEX1D2 Arina Puzriakova Tag for-review tag was added to gene: TCTEX1D2.
Fetal anomalies v1.193 SERPINF1 Rhiannon Mellis gene: SERPINF1 was added
gene: SERPINF1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI
Review for gene: SERPINF1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.193 SERPINH1 Rhiannon Mellis gene: SERPINH1 was added
gene: SERPINH1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta, type X
Review for gene: SERPINH1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.193 SGCG Rhiannon Mellis gene: SGCG was added
gene: SGCG was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, autosomal recessive 5
Review for gene: SGCG was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.193 SULT2B1 Arina Puzriakova Publications for gene: SULT2B1 were set to
Fetal anomalies v1.192 SHANK3 Rhiannon Mellis reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PHELAN-MCDERMID SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.192 SIX6 Rhiannon Mellis gene: SIX6 was added
gene: SIX6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SIX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIX6 were set to Optic disc anomalies with retinal and/or macular dystrophy
Review for gene: SIX6 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Anophthalmia and microphthalmia
Sources: Literature
Fetal anomalies v1.192 SLC18A3 Rhiannon Mellis gene: SLC18A3 was added
gene: SLC18A3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A3 were set to PMID: 31059209
Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic
Review for gene: SLC18A3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Neuromuscular disorders
Sources: Literature
Fetal anomalies v1.192 SULT2B1 Arina Puzriakova Phenotypes for gene: SULT2B1 were changed from Ichthyosis, congenital, autosomal recessive 14 to Ichthyosis, congenital, autosomal recessive 14, OMIM:617571; Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091
Fetal anomalies v1.191 SULT2B1 Arina Puzriakova Classified gene: SULT2B1 as Amber List (moderate evidence)
Fetal anomalies v1.191 SULT2B1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.191 SULT2B1 Arina Puzriakova Gene: sult2b1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.190 SULT2B1 Arina Puzriakova Tag for-review tag was added to gene: SULT2B1.
Fetal anomalies v1.190 SLC25A19 Rhiannon Mellis reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, Amish type, 607196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.190 ADAMTS3 Arina Puzriakova Publications for gene: ADAMTS3 were set to
Fetal anomalies v1.189 SLC29A3 Rhiannon Mellis gene: SLC29A3 was added
gene: SLC29A3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome
Review for gene: SLC29A3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Skeletal dysplasia
Sources: Literature
Fetal anomalies v1.189 SLC5A7 Rhiannon Mellis reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27569547, 31299140; Phenotypes: Myasthenic syndrome, congenital, 20, presynaptic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.189 ADAMTS3 Arina Puzriakova Phenotypes for gene: ADAMTS3 were changed from Hennekam lymphangiectasia-lymphedema syndrome 3 to Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154; Hennekam lymphangiectasia-lymphedema syndrome 3, MONDO:0032564
Fetal anomalies v1.188 ADAMTS3 Arina Puzriakova Tag for-review tag was added to gene: ADAMTS3.
Fetal anomalies v1.188 ADAMTS3 Arina Puzriakova Classified gene: ADAMTS3 as Amber List (moderate evidence)
Fetal anomalies v1.188 ADAMTS3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.188 ADAMTS3 Arina Puzriakova Gene: adamts3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.187 SMPD4 Rhiannon Mellis gene: SMPD4 was added
gene: SMPD4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD4 were set to PMID: 31495489
Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
Review for gene: SMPD4 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Arthrogryposis; Cerebellar hypoplasia

Additional comment: Documented fetal phenotype with IUGR, microcephaly, arthrogryposis, and structural brain anomalies in some. (32 reported cases from 12 families) PMID: 31495489
Sources: Literature
Fetal anomalies v1.187 SMS Rhiannon Mellis reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: SNYDER-ROBINSON SYNDROME; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.187 SNX10 Rhiannon Mellis gene: SNX10 was added
gene: SNX10 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8
Review for gene: SNX10 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Hydrocephalus; Osteopetrosis; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.187 SOX18 Rhiannon Mellis gene: SOX18 was added
gene: SOX18 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome
Review for gene: SOX18 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Primary lymphoedema
Sources: Literature, Expert list
Fetal anomalies v1.187 SOX6 Rhiannon Mellis gene: SOX6 was added
gene: SOX6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX6 were set to Tolchin-Le Caignec syndrome
Review for gene: SOX6 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Craniosynostosis
Sources: Literature
Fetal anomalies v1.187 SP7 Rhiannon Mellis gene: SP7 was added
gene: SP7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII
Review for gene: SP7 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Literature
Fetal anomalies v1.187 SPARC Rhiannon Mellis reviewed gene: SPARC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XVII; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.187 SPECC1L Rhiannon Mellis reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Facial clefting, oblique, 1, Hypertelorism, Teebi type, Opitz GBBB syndrome, type II; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.187 ST14 Rhiannon Mellis reviewed gene: ST14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.187 STAC3 Rhiannon Mellis gene: STAC3 was added
gene: STAC3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAC3 were set to PMID: 30168660
Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch
Review for gene: STAC3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Additional comment: Documented arthrogryposis, also cleft palate, polyhydramnios and reduced fetal movements. PMID: 30168660
Sources: Literature
Fetal anomalies v1.187 STIL Rhiannon Mellis reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 29230157; Phenotypes: Microcephaly 7, primary, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.187 STRADA Rhiannon Mellis gene: STRADA was added
gene: STRADA was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy
Review for gene: STRADA was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Hydrocephalus). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.187 SUFU Rhiannon Mellis reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: None; Publications: 33024317, 21289193; Phenotypes: Joubert syndrome 32; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v1.187 ERCC5 Arina Puzriakova Publications for gene: ERCC5 were set to
Fetal anomalies v1.186 ERCC5 Arina Puzriakova Phenotypes for gene: ERCC5 were changed from XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G to Cerebrooculofacioskeletal syndrome 3, OMIM:616570; Cerebrooculofacioskeletal syndrome 3, MONDO:0014696
Fetal anomalies v1.185 SULT2B1 Rhiannon Mellis gene: SULT2B1 was added
gene: SULT2B1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14
Review for gene: SULT2B1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Autosomal recessive congenital ichthyosis). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TBC1D32 Rhiannon Mellis gene: TBC1D32 was added
gene: TBC1D32 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to PMID: 32573025; 31130284; 32060556
Phenotypes for gene: TBC1D32 were set to OFD IX
Review for gene: TBC1D32 was set to GREEN
Added comment: Now 5 families reported:

The same group who reported the first individual with a ciliopathy phenotype (Adly et al 2014) now report two further unrelated fetal cases (Alsahan 2020, Monies et al 2019) with OFD/ciliopathy phenotype:

- One had polyhydramnios, hydrocephaly with enlarged biparietal diameter and dilated lateral ventricles, single nostril, anophthalmia, short long bones and echogenic lungs
- The other had holoprosencephaly, cyclops, cleft lip, ventricular septal defect, agenesis of corpus callosum, and club feet

- There are also two sib pairs (one Finnish, one Pakistani) reported by Hietamaki et al 2020 with TBC1D32 variants and a variable phenotype of pituitary hypoplasia +/- other midline defects, hydrocephalus, short limbs, polydactyly
Sources: Literature
Fetal anomalies v1.185 TCTEX1D2 Rhiannon Mellis gene: TCTEX1D2 was added
gene: TCTEX1D2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly
Review for gene: TCTEX1D2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TELO2 Rhiannon Mellis reviewed gene: TELO2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: You-Hoover-Fong syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 TENM3 Rhiannon Mellis gene: TENM3 was added
gene: TENM3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15; ?Microphthalmia, isolated, with coloboma 9
Review for gene: TENM3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Anophthalmia and microphthalmia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TMEM38B Rhiannon Mellis gene: TMEM38B was added
gene: TMEM38B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV
Review for gene: TMEM38B was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Osteogenesis imperfecta; Skeletal dysplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TMEM98 Rhiannon Mellis gene: TMEM98 was added
gene: TMEM98 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TMEM98 were set to Nanophthalmos 4
Review for gene: TMEM98 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Anophthalmia and microphthalmia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TMX2 Rhiannon Mellis gene: TMX2 was added
gene: TMX2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Review for gene: TMX2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cerebral malformations; Malformations of cortical development; Severe microcephaly). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TNNT3 Rhiannon Mellis gene: TNNT3 was added
gene: TNNT3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNNT3 were set to 32779773
Phenotypes for gene: TNNT3 were set to Arthrogryposis, distal, type 2B2
Mode of pathogenicity for gene: TNNT3 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: TNNT3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Additional comment: Clearly documented phenotype of distal arthrogryposis. Also, recent paper in Prenatal Diagnosis reporting a het pathogenic variant in TNNT3 in a fetus with FADS; that variant has previously only been described in a family with much milder distal arthrogryposis phenotype. PMID: 32779773

(copied from OMIM): In in vitro studies, Robinson et al. (2007) demonstrated that the TNNI2 R174Q (191043.0001) and R156X (191043.0002) mutations and the TNNT3 mutation R63H (600692.0001) resulted in a gain of function with increased ATPase activity in actin-activated myosin ATPase assays, reflecting increased calcium sensitivity and consistent with increased contractility. In patients, Robinson et al. (2007) concluded that the mutation would cause increased tension in developing muscles, thus resulting in contractures and limb deformities via an active process rather than a passive process. These findings implicated disturbed muscle function as the pathogenic mechanism underlying DA2B.
Sources: Literature
Fetal anomalies v1.185 TOE1 Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (cerebellar hypoplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Fetal anomalies v1.185 TOE1 Rhiannon Mellis reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 TOR1A Rhiannon Mellis gene: TOR1A was added
gene: TOR1A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1A were set to 30244176; 29053766; 28516161
Phenotypes for gene: TOR1A were set to Arthrogryposis multiplex congenita 5
Review for gene: TOR1A was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Additional comment: documented phenotype of severe arthrogryposis multiplex congenital with prenatal onset
Sources: Literature
Fetal anomalies v1.185 TRAF3IP1 Rhiannon Mellis gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9
Review for gene: TRAF3IP1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TRAIP Rhiannon Mellis reviewed gene: TRAIP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Seckel syndrome 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 TRAP1 Rhiannon Mellis gene: TRAP1 was added
gene: TRAP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAP1 were set to CAKUT; VACTERL
Review for gene: TRAP1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TRMT10A Rhiannon Mellis gene: TRMT10A was added
gene: TRMT10A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1
Review for gene: TRMT10A was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Severe microcephaly). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TSEN2 Rhiannon Mellis reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 TSEN34 Rhiannon Mellis reviewed gene: TSEN34: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 TSFM Rhiannon Mellis gene: TSFM was added
gene: TSFM was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3
Review for gene: TSFM was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Neuromuscular disorders). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Additional comment: IUGR, decreased fetal movements, reduced brain gyri
Sources: Literature
Fetal anomalies v1.185 TUBB3 Rhiannon Mellis reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.185 TUBG1 Rhiannon Mellis reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.185 TUBGCP4 Rhiannon Mellis reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 TXNDC15 Rhiannon Mellis gene: TXNDC15 was added
gene: TXNDC15 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXNDC15 were set to Meckel Gruber syndrome
Review for gene: TXNDC15 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cystic renal disease (super panel); Limb disorders; Rare multisystem ciliopathy Super panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Comment from copied from skeletal ciliopathies panel:
Shaheen et al. 2016 (PMID:27894351) report TXNDC15 variants in two consanguineous Saudi families that share the features of Meckel-Gruber syndrome (a ciliopathy phenotype). Phenotypes of both patients included polydactyly; one patients was still born, and one survived till 11 hours old. Furthermore, through an international collaboration, they were able to identify an additional Meckel-Gruber syndrome patient (Pakistani origin) with a homozygous truncating variant in this gene. The patient also had polydactyly, although a sibling presented similarly but with no polydactyl. Patient fibroblasts had aberrant ciliogenesis.
Sources: Other
Sources: Literature
Fetal anomalies v1.185 UBE2T Rhiannon Mellis reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group T; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 USP9X Rhiannon Mellis reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MENTAL RETARDATION, X-LINKED 99, MRX99; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v1.185 VAMP1 Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Additional comment: Phenotype = congenital myasthenic syndrome. Reported patients present with severe hypotonia from birth, some have contractures, unclear if present at birth but decreased fetal movements reported so could present prenatally. PubMed: 28600779, 28253535, 28168212

Sources: Literature
Fetal anomalies v1.185 VAMP1 Rhiannon Mellis gene: VAMP1 was added
gene: VAMP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25
Review for gene: VAMP1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 VEGFC Rhiannon Mellis gene: VEGFC was added
gene: VEGFC was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: VEGFC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VEGFC were set to Lymphatic malformation 4
Review for gene: VEGFC was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 VRK1 Rhiannon Mellis reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 1A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 WDR73 Rhiannon Mellis reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galloway-Mowat syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 WDR81 Rhiannon Mellis gene: WDR81 was added
gene: WDR81 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR81 were set to Hydrocephalus, congenital, 3, with brain anomalies
Review for gene: WDR81 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel (Cerebellar hypoplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 XYLT2 Rhiannon Mellis reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloocular syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 ZMYND10 Rhiannon Mellis reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 22; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.185 ZSWIM6 Rhiannon Mellis reviewed gene: ZSWIM6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acromelic frontonasal dysostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.185 AKT2 Rhiannon Mellis gene: AKT2 was added
gene: AKT2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT2 were set to Hypoinsulinemic hypoglycemia with hemihypertrophy
Review for gene: AKT2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel (BWS and Overgrowth panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 ADAMTS3 Rhiannon Mellis gene: ADAMTS3 was added
gene: ADAMTS3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3
Review for gene: ADAMTS3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 ABL1 Rhiannon Mellis reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital heart defects and skeletal malformations syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.185 NUAK2 Arina Puzriakova Tag watchlist tag was added to gene: NUAK2.
Fetal anomalies v1.185 NUAK2 Arina Puzriakova Publications for gene: NUAK2 were set to 32845958
Fetal anomalies v1.184 NUAK2 Arina Puzriakova Classified gene: NUAK2 as Amber List (moderate evidence)
Fetal anomalies v1.184 NUAK2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single consanguineous family with three consecutive fetuses with anencephaly. Exome sequencing revealed a recessive 21-bp in-frame deletion in NUAK2 segregating with the disease. Pathogenicity is supported by in vitro and animal model data.

Rating Amber, awaiting further cases/clinical evidence prior to inclusion as diagnostic-grade (added 'watchlist' tag)
Fetal anomalies v1.184 NUAK2 Arina Puzriakova Gene: nuak2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.183 AMBRA1 Arina Puzriakova Classified gene: AMBRA1 as Amber List (moderate evidence)
Fetal anomalies v1.183 AMBRA1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Sufficient unrelated cases and supportive functional data. However, only a single publication linking this gene to human disease at present (PMID:32333458). Segregation data was not provided and penetrance remains unclear. AMBRA1 was investigated by targeted sequencing and so there also is a possibility of variants in other genes.

Currently the evidence is insufficient for a Green rating, but this may be revised if further cases/clinical evidence arise (added 'watchlist' tag)
Fetal anomalies v1.183 AMBRA1 Arina Puzriakova Gene: ambra1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.182 AMBRA1 Arina Puzriakova Tag watchlist tag was added to gene: AMBRA1.
Fetal anomalies v1.182 AMBRA1 Arina Puzriakova reviewed gene: AMBRA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32333458, 17589504; Phenotypes: Neural tube defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.182 CALCRL Arina Puzriakova Phenotypes for gene: CALCRL were changed from Lymphatic malformation 8 (MIM# 618773); hydrops fetalis to Lymphatic malformation 8, OMIM:618773; Lymphatic malformation 8, MONDO:0032907; Hydrops fetalis
Fetal anomalies v1.181 CALCRL Arina Puzriakova Publications for gene: CALCRL were set to 30115739
Fetal anomalies v1.180 CALCRL Arina Puzriakova Classified gene: CALCRL as Red List (low evidence)
Fetal anomalies v1.180 CALCRL Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single family with recurrent hydrops fetalis (PMID:30115739), supported by in vitro and animal model data. Rating Red as additional cases required to corroborate this gene-disease association.
Fetal anomalies v1.180 CALCRL Arina Puzriakova Gene: calcrl has been classified as Red List (Low Evidence).
Fetal anomalies v1.179 SHROOM4 Arina Puzriakova Classified gene: SHROOM4 as Red List (low evidence)
Fetal anomalies v1.179 SHROOM4 Arina Puzriakova Added comment: Comment on list classification: New gene added by Suzanne Drury. Rating Red as currently only a single case with a fetally-relevant phenotype (PMID: 32565546). Additional unrelated cases required to support this gene-disease association.
Fetal anomalies v1.179 SHROOM4 Arina Puzriakova Gene: shroom4 has been classified as Red List (Low Evidence).
Fetal anomalies v1.178 SHROOM4 Arina Puzriakova Phenotypes for gene: SHROOM4 were changed from HP:0001274 to Stocco dos Santos X-linked mental retardation syndrome, 300434
Fetal anomalies v1.177 TMEM260 Arina Puzriakova Publications for gene: TMEM260 were set to
Fetal anomalies v1.176 TMEM260 Arina Puzriakova Phenotypes for gene: TMEM260 were changed from Neurodevelopmental, Cardiac, and Renal Syndrome to Structural heart defects and renal anomalies syndrome, OMIM:617478; Structural heart defects and renal anomalies syndrome, MONDO:0044321
Fetal anomalies v1.175 GREB1L Arina Puzriakova Publications for gene: GREB1L were set to 29261186; 29100091
Fetal anomalies v1.174 AGRN Arina Puzriakova Classified gene: AGRN as Red List (low evidence)
Fetal anomalies v1.174 AGRN Arina Puzriakova Added comment: Comment on list classification: Maintaining Red rating and currently only a single case (PMID: 31730230) has been reported with a relevant phenotype to this panel.
Fetal anomalies v1.174 AGRN Arina Puzriakova Gene: agrn has been classified as Red List (Low Evidence).
Fetal anomalies v1.173 AGRN Arina Puzriakova Phenotypes for gene: AGRN were changed from Myasthenia, limb-girdle, familial 615120 to Fetal akinesia deformation sequence (FADS)
Fetal anomalies v1.172 AGRN Arina Puzriakova Publications for gene: AGRN were set to
Fetal anomalies v1.171 NONO Arina Puzriakova Phenotypes for gene: NONO were changed from SYNDROMIC INTELLECTUAL DISABILITY to Left ventricular non-compaction cardiomyopathy (LVNC); Ventricular septal defect (VSD); Pulmonary stenosis; Atresia; Ebstein’s anomaly
Fetal anomalies v1.170 NONO Arina Puzriakova Classified gene: NONO as Amber List (moderate evidence)
Fetal anomalies v1.170 NONO Arina Puzriakova Added comment: Comment on list classification: Currently there is not enough evidence to promote this gene to Green. Additional cases with a fetally-relevant phenotype are required prior to inclusion at diagnostic-grade. Maintaining Amber rating on this panel.
Fetal anomalies v1.170 NONO Arina Puzriakova Gene: nono has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.169 NONO Arina Puzriakova reviewed gene: NONO: Rating: AMBER; Mode of pathogenicity: None; Publications: 32397791; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.169 NONO Arina Puzriakova Publications for gene: NONO were set to
Fetal anomalies v1.168 SNAP29 Arina Puzriakova Classified gene: SNAP29 as Amber List (moderate evidence)
Fetal anomalies v1.168 SNAP29 Arina Puzriakova Added comment: Comment on list classification: Maintaining Amber rating as currently there is not enough evidence to promote to Green. Phenotypes do not appear to be fetally-relevant and gestation is typically uneventful. However, symptoms do arise during the first year of life.
Fetal anomalies v1.168 SNAP29 Arina Puzriakova Gene: snap29 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.167 SNAP29 Arina Puzriakova Phenotypes for gene: SNAP29 were changed from CEDNIK SYNDROME to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290
Fetal anomalies v1.166 SNAP29 Arina Puzriakova Publications for gene: SNAP29 were set to
Fetal anomalies v1.165 NUP88 Arina Puzriakova Tag watchlist tag was added to gene: NUP88.
Fetal anomalies v1.165 NUP88 Arina Puzriakova Classified gene: NUP88 as Amber List (moderate evidence)
Fetal anomalies v1.165 NUP88 Arina Puzriakova Added comment: Comment on list classification: New gene added by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). Two unrelated families with lethal FADS and different biallelic variants in the NUP88 gene (PMID: 30543681). Zebrafish model recapitulated some human phenotypes such as locomotor and neuromuscular junction defects.

NUP88 is associated with a relevant phenotype in OMIM but is not currently in Gene2Phenotype. Fetally-relevant phenotype but additional cases required prior to inclusion as diagnostic-grade. Added 'watchlist' tag.
Fetal anomalies v1.165 NUP88 Arina Puzriakova Gene: nup88 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.164 NUP88 Arina Puzriakova Publications for gene: NUP88 were set to PMID: 30543681
Fetal anomalies v1.163 NUP88 Arina Puzriakova Phenotypes for gene: NUP88 were changed from fetal akinesia to Fetal akinesia deformation sequence 4, OMIM:618393; Fetal akinesia deformation sequence 4, MONDO:0100104
Fetal anomalies v1.162 TRAPPC12 Arina Puzriakova Classified gene: TRAPPC12 as Amber List (moderate evidence)
Fetal anomalies v1.162 TRAPPC12 Arina Puzriakova Added comment: Comment on list classification: Maintaining Amber rating as currently there are not enough unrelated cases with a fetally-relevant phenotype to promote to Green. Added 'watchlist' tag.
Fetal anomalies v1.162 TRAPPC12 Arina Puzriakova Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.161 TRAPPC12 Arina Puzriakova Publications for gene: TRAPPC12 were set to
Fetal anomalies v1.160 TRAPPC12 Arina Puzriakova Phenotypes for gene: TRAPPC12 were changed from Progressive Childhood Encephalopathy and Golgi Dysfunction to Hydrocephaly; Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696
Fetal anomalies v1.159 TRAPPC12 Arina Puzriakova Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.158 TRAPPC12 Arina Puzriakova commented on gene: TRAPPC12: Removed 'polygenic' tag as published cases revealed no evidence to indicate polygenic inheritance
Fetal anomalies v1.158 TRAPPC12 Arina Puzriakova Tag polygenic was removed from gene: TRAPPC12.
Tag watchlist tag was added to gene: TRAPPC12.
Fetal anomalies v1.158 TRAPPC12 Arina Puzriakova reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: None; Publications: 32347653, 28777934; Phenotypes: Hydrocephaly, Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.158 NEK9 Arina Puzriakova Classified gene: NEK9 as Amber List (moderate evidence)
Fetal anomalies v1.158 NEK9 Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag). At least 3 unrelated families presenting a similar fetally-relevant phenotype in association with different biallelic variants in this gene.

NEK9 is associated with relevant phenotypes in OMIM (MIM# 614262 and 617022) but currently is not in Gene2Phenotype.
Fetal anomalies v1.158 NEK9 Arina Puzriakova Gene: nek9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.157 NEK9 Arina Puzriakova Publications for gene: NEK9 were set to 26908619
Fetal anomalies v1.156 NEK9 Arina Puzriakova Tag for-review tag was added to gene: NEK9.
Fetal anomalies v1.156 NEK9 Arina Puzriakova Phenotypes for gene: NEK9 were changed from Lethal congenital contracture syndrome 10 617022 to ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262; Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660; Lethal congenital contracture syndrome 10, OMIM:617022; NEK9-related lethal skeletal dysplasia, MONDO:0014870
Fetal anomalies v1.155 MN1 Arina Puzriakova Tag for-review tag was added to gene: MN1.
Fetal anomalies v1.155 MN1 Arina Puzriakova Classified gene: MN1 as Amber List (moderate evidence)
Fetal anomalies v1.155 MN1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Multiple unrelated individuals (>20) described with a complex developmental disorder and de novo truncating MN1 variants. This gene will be flagged for review to determine whether the phenotype is fetally-relevant and there is enough evidence to include as Green.

Plausible that some features of the disorder, such as craniofacial abnormalities and structural brain anomalies may be detected prenatally. However based on published clinical descriptions, antenatal history was uneventful in most cases - but reports did include fetal brain anomalies (1), NICU admission (1) and IUGR (2). Similarly, neonatal problems were only reported in a few patients but included respiratory issues (3), abnormal ABR (1), congenital diaphragmatic hernia (1), perinatal hypoxia (1), congenital hypothyroidism (1), hearing impairment (1) and SCBU admission (1) (see Supplementary material in PMID: 31834374)
Fetal anomalies v1.155 MN1 Arina Puzriakova Gene: mn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.154 MN1 Arina Puzriakova Phenotypes for gene: MN1 were changed from CEBALID syndrome, 618774 to CEBALID syndrome, OMIM:618774; CEBALID syndrome, MONDO:0032908
Fetal anomalies v1.153 ATP1A2 Arina Puzriakova changed review comment from: Comment on list classification: There are now at least 4 unrelated families reported with a fetally-relevant phenotype and different homozygous truncating variants in the ATP1A2 gene (PMIDs: 30690204 and 316089320). Therefore this gene can now be promoted from Amber to Green at the next GMS panel update (added 'for-review' tag); to: Comment on list classification: There are now at least 4 unrelated families reported with a fetally-relevant phenotype and different homozygous truncating variants in the ATP1A2 gene (PMIDs: 30690204 and 31608932). Therefore this gene can now be promoted from Amber to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.153 ATP1A2 Arina Puzriakova Classified gene: ATP1A2 as Amber List (moderate evidence)
Fetal anomalies v1.153 ATP1A2 Arina Puzriakova Added comment: Comment on list classification: There are now at least 4 unrelated families reported with a fetally-relevant phenotype and different homozygous truncating variants in the ATP1A2 gene (PMIDs: 30690204 and 316089320). Therefore this gene can now be promoted from Amber to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.153 ATP1A2 Arina Puzriakova Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.152 ATP1A2 Arina Puzriakova Publications for gene: ATP1A2 were set to 30690204
Fetal anomalies v1.151 ATP1A2 Arina Puzriakova Tag for-review tag was added to gene: ATP1A2.
Fetal anomalies v1.151 TMEM216 Arina Puzriakova changed review comment from: Comment on list classification: At least 3 variants reported in 6 families with Meckel syndrome, a fetally-relevant phenotype. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag).

TMEM216 is associated with Meckel and Joubert syndrome in OMIM and Gene2Phenotype.; to: Comment on list classification: At least 3 reported variants in 6 families with Meckel syndrome, a fetally-relevant phenotype. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag).

TMEM216 is associated with Meckel and Joubert syndrome in OMIM and Gene2Phenotype.
Fetal anomalies v1.151 TMEM216 Arina Puzriakova Publications for gene: TMEM216 were set to
Fetal anomalies v1.150 TMEM216 Arina Puzriakova Phenotypes for gene: TMEM216 were changed from JOUBERT SYNDROME 2 to Meckel syndrome 2, OMIM:603194; Meckel syndrome, type 2, MONDO:0011296
Fetal anomalies v1.149 TMEM216 Arina Puzriakova Classified gene: TMEM216 as Amber List (moderate evidence)
Fetal anomalies v1.149 TMEM216 Arina Puzriakova Added comment: Comment on list classification: At least 3 variants reported in 6 families with Meckel syndrome, a fetally-relevant phenotype. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag).

TMEM216 is associated with Meckel and Joubert syndrome in OMIM and Gene2Phenotype.
Fetal anomalies v1.149 TMEM216 Arina Puzriakova Gene: tmem216 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.148 TMEM216 Arina Puzriakova Tag for-review tag was added to gene: TMEM216.
Fetal anomalies v1.148 TMEM107 Arina Puzriakova Publications for gene: TMEM107 were set to 26123494; 26518474; 26595381
Fetal anomalies v1.147 TMEM107 Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381).

Phenotype is fetally-relevant in the two apparently unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect). However, it is unclear whether this panel is relevant to OFD case, which would be necessary to reach the threshold for inclusion of TMEM107 as Green.

Therefore, rating Amber but will be flagged at the next GMS panel review to assess the phenotypic relevance in context of the panel scope (added 'for-review' tag); to: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474 and 26595381), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381).

Phenotype is fetally-relevant in the two unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect), as well as the OFD syndrome cases.

Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.147 TMEM107 Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381).

Phenotype is fetally-relevant in the two apparently unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect). However, it is unclear whether this panel would be applicable in OFD case which would be necessary to reach the threshold for inclusion of TMEM107 as Green.

Therefore, rating Amber but will be flagged at the next GMS panel review to assess the phenotypic relevance in context of the panel scope (added 'for-review' tag); to: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381).

Phenotype is fetally-relevant in the two apparently unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect). However, it is unclear whether this panel is relevant to OFD case, which would be necessary to reach the threshold for inclusion of TMEM107 as Green.

Therefore, rating Amber but will be flagged at the next GMS panel review to assess the phenotypic relevance in context of the panel scope (added 'for-review' tag)
Fetal anomalies v1.147 TMEM107 Arina Puzriakova Tag for-review tag was added to gene: TMEM107.
Fetal anomalies v1.147 TMEM107 Arina Puzriakova Classified gene: TMEM107 as Amber List (moderate evidence)
Fetal anomalies v1.147 TMEM107 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381).

Phenotype is fetally-relevant in the two apparently unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect). However, it is unclear whether this panel would be applicable in OFD case which would be necessary to reach the threshold for inclusion of TMEM107 as Green.

Therefore, rating Amber but will be flagged at the next GMS panel review to assess the phenotypic relevance in context of the panel scope (added 'for-review' tag)
Fetal anomalies v1.147 TMEM107 Arina Puzriakova Gene: tmem107 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.146 TMEM107 Arina Puzriakova Publications for gene: TMEM107 were set to PMID: 26123494; 26518474; 26595381
Fetal anomalies v1.145 TMEM107 Arina Puzriakova Phenotypes for gene: TMEM107 were changed from ?Joubert syndrome 29; Meckel syndrome 13; Orofaciodigital syndrome XVI to Joubert syndrome 29, OMIM:617562; Meckel syndrome 13, OMIM:617562; Meckel syndrome 13, MONDO:0033044; Orofaciodigital syndrome XVI, OMIM:617563; Orofaciodigital syndrome 16, MONDO:0033045
Fetal anomalies v1.144 KIF14 Arina Puzriakova Publications for gene: KIF14 were set to PMID: 24128419; 30388224; 28892560; 29343805
Fetal anomalies v1.143 KIF14 Arina Puzriakova Classified gene: KIF14 as Amber List (moderate evidence)
Fetal anomalies v1.143 KIF14 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM and Gene2Phenotype. At least 13 unrelated families reported with most cases being of fetal relevance. Phenotypes within the spectrum of fetal forms of ciliopathies (MKS) as well as severe primary microcephaly. Also supportive zebrafish model.

Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.143 KIF14 Arina Puzriakova Gene: kif14 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.142 KIF14 Arina Puzriakova Tag for-review tag was added to gene: KIF14.
Fetal anomalies v1.142 KIF14 Arina Puzriakova Phenotypes for gene: KIF14 were changed from ?Meckel syndrome 12; Microcephaly 20, primary to Microcephaly 20, primary, autosomal recessive, OMIM:617914; Microcephaly 20, primary, autosomal recessive, MONDO:0054761; Meckel syndrome 12, OMIM:616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
Fetal anomalies v1.141 B9D1 Arina Puzriakova Publications for gene: B9D1 were set to
Fetal anomalies v1.140 B9D1 Arina Puzriakova Phenotypes for gene: B9D1 were changed from MECKEL SYNDROME 9 to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
Fetal anomalies v1.139 B9D1 Arina Puzriakova commented on gene: B9D1
Fetal anomalies v1.139 B9D2 Arina Puzriakova Tag for-review tag was added to gene: B9D2.
Fetal anomalies v1.139 B9D2 Arina Puzriakova Phenotypes for gene: B9D2 were changed from Joubert syndrome; Meckel syndrome to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609
Fetal anomalies v1.138 B9D2 Arina Puzriakova Publications for gene: B9D2 were set to PMID: 21763481; 26092869
Fetal anomalies v1.137 B9D2 Arina Puzriakova Classified gene: B9D2 as Amber List (moderate evidence)
Fetal anomalies v1.137 B9D2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants reported in at least four unrelated cases (2 with Joubert syndrome, PMID: 26092869; and 2 with MKS, PMIDs: 21763481 and 31411728)

Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag) as sufficient number of unrelated cases with fetally-relevant phenotype due to variants in the B9D2 gene.
Fetal anomalies v1.137 B9D2 Arina Puzriakova Gene: b9d2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.136 TUBB2A Arina Puzriakova Phenotypes for gene: TUBB2A were changed from CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 to Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763; Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
Fetal anomalies v1.135 AKT1 Eleanor Williams Publications for gene: AKT1 were set to
Fetal anomalies v1.134 AKT1 Eleanor Williams reviewed gene: AKT1: Rating: ; Mode of pathogenicity: None; Publications: 33030203; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.134 AP4E1 Arina Puzriakova Phenotypes for gene: AP4E1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 to Spastic paraplegia 51, autosomal recessive, OMIM:613744; Hereditary spastic paraplegia 51, MONDO:0013401
Fetal anomalies v1.133 AP4B1 Arina Puzriakova Phenotypes for gene: AP4B1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551
Fetal anomalies v1.132 TBCD Arina Puzriakova Phenotypes for gene: TBCD were changed from Early-Onset Neurodegenerative Encephalopathy to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646
Fetal anomalies v1.131 TRIP4 Arina Puzriakova Publications for gene: TRIP4 were set to
Fetal anomalies v1.130 TRIP4 Arina Puzriakova Phenotypes for gene: TRIP4 were changed from Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures to Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806; ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896
Fetal anomalies v1.129 SMC1A Arina Puzriakova Phenotypes for gene: SMC1A were changed from CORNELIA DE LANGE SYNDROME TYPE 2; EPILEPTIC ENCEPHALOPATHY to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044; Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
Fetal anomalies v1.128 KCNJ2 Arina Puzriakova Phenotypes for gene: KCNJ2 were changed from Andersen syndrome 170390 to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222
Fetal anomalies v1.127 MPI Arina Puzriakova Phenotypes for gene: MPI were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type Ib, OMIM:602579; MPI-CDG, MONDO:0011257
Fetal anomalies v1.126 HSPG2 Arina Puzriakova Phenotypes for gene: HSPG2 were changed from DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE; SCHWARTZ-JAMPEL SYNDROME to Schwartz-Jampel syndrome, type 1, OMIM:255800; Schwartz-Jampel syndrome, MONDO:0009717; Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410; Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140
Fetal anomalies v1.125 AASS Arina Puzriakova Phenotypes for gene: AASS were changed from HYPERLYSINEMIAHyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388 to Hyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388
Fetal anomalies v1.124 AASS Arina Puzriakova Phenotypes for gene: AASS were changed from HYPERLYSINEMIA to HYPERLYSINEMIAHyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388
Fetal anomalies v1.123 AARS Arina Puzriakova Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. to Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593
Fetal anomalies v1.122 AAAS Arina Puzriakova Phenotypes for gene: AAAS were changed from ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279
Fetal anomalies v1.121 GDF6 Zornitza Stark reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32737436; Phenotypes: Syndromic CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.121 MYL9 Zornitza Stark reviewed gene: MYL9: Rating: AMBER; Mode of pathogenicity: None; Publications: 29453416, 33031641; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.121 SOX3 Arina Puzriakova Phenotypes for gene: SOX3 were changed from SEX REVERSAL TYPE 3; MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712
Fetal anomalies v1.120 ALDH7A1 Eleanor Williams reviewed gene: ALDH7A1: Rating: ; Mode of pathogenicity: None; Publications: 32969477; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.120 FKBP8 Eleanor Williams Classified gene: FKBP8 as Amber List (moderate evidence)
Fetal anomalies v1.120 FKBP8 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. 5 cases reported with plausible disease causing variants but only the FKBP8 gene looked at.
Fetal anomalies v1.120 FKBP8 Eleanor Williams Gene: fkbp8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.119 FKBP8 Eleanor Williams gene: FKBP8 was added
gene: FKBP8 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FKBP8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FKBP8 were set to 32969478
Phenotypes for gene: FKBP8 were set to spina bifida HP:0002414
Review for gene: FKBP8 was set to AMBER
Added comment: Not associated with a phenotype in OMIM.

PMID: 32969478 - Tian et al 2020 - performed Sanger sequencing of FKBP8 on DNA samples from 472 spina bifida (SB) affected fetuses and 565 unaffected controls. 5 different rare heterozygous variants (MAF ≤ 0.001) were identified among the SB patients, while no deleterious rare variants were identified in the controls. 4 of the variants are missense, the other is a stop-gain. 2 cases were in white-Hispanic patients while the other 3 were non-white Hispanic. Functional studies showed that p.Glu140* affected FKBP8 localization to the mitochondria and impaired its interaction with BCL2 ultimately leading to an increase in cellular apoptosis. p.Ser3Leu, p.Lys315Asn and p.Ala292Ser variants decreased FKBP8 protein level. Gene expression was studied in mouse Fkbp8-/- embryos and found to be abnormal. Previous mouse models have shown neural tube defects.

Sufficient cases to rate green, but only the FKBP8 gene looked at so perhaps some caution required while further evidence is gathered.
Sources: Literature
Fetal anomalies v1.118 SCN1A Arina Puzriakova Phenotypes for gene: SCN1A were changed from SCN1A-RELATED SEIZURE DISORDERS to Dravet syndrome, OMIM:607208; Arthrogryposis multiplex congenita
Fetal anomalies v1.117 SCN1A Arina Puzriakova Publications for gene: SCN1A were set to
Fetal anomalies v1.116 SCN1A Arina Puzriakova Classified gene: SCN1A as Red List (low evidence)
Fetal anomalies v1.116 SCN1A Arina Puzriakova Added comment: Comment on list classification: Although it is anticipated that following birth early-onset seizures will likely represent the predominant characteristic of the phenotype, arthrogryposis multiplex congenita may be detected in utero as demonstrated with the cases in PMID:32928894. Therefore, this gene will be flagged for review at the next GMS panel update to assess whether this is sufficient for inclusion on this panel (added 'for-review' tag).
Fetal anomalies v1.116 SCN1A Arina Puzriakova Gene: scn1a has been classified as Red List (Low Evidence).
Fetal anomalies v1.115 SCN1A Arina Puzriakova Tag for-review tag was added to gene: SCN1A.
Fetal anomalies v1.115 SCN1A Arina Puzriakova reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32928894, 29543227; Phenotypes: Dravet syndrome, OMIM:607208, Arthrogryposis multiplex congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.115 MN1 Rhiannon Mellis gene: MN1 was added
gene: MN1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MN1 were set to 31834374; 31839203; 15870292
Phenotypes for gene: MN1 were set to CEBALID syndrome, 618774
Mode of pathogenicity for gene: MN1 was set to Other
Review for gene: MN1 was set to GREEN
Added comment: Copied from MN1 review on Cortical malformations panel:

Associated with phenotype in OMIM, and a probable gene for MN1 C-terminal truncation syndrome in G2P.

Over 20 unrelated probands reported with heterozygous MN1 truncating variants, associated with a distinct phenotype which includes DD, craniofacial abnormalities, hearing loss, and structural abnormalities in the brain (e.g. polymicrogyria, dysmorphic corpus callosum and anomalies of the cerebellum - rhombencephalosynapsis).

Most variants cluster in the C-terminal, and all were predicted to escape NMD. Authors postulated that the resulting truncated protein may have a dominant-negative or gain-of-function effect. Also phenotypically supportive knockout mouse model.
Sources: Literature
Fetal anomalies v1.115 DDC Arina Puzriakova Phenotypes for gene: DDC were changed from AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Fetal anomalies v1.114 COX6B1 Arina Puzriakova Publications for gene: COX6B1 were set to
Fetal anomalies v1.113 COX6B1 Arina Puzriakova Phenotypes for gene: COX6B1 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Fetal anomalies v1.112 SCO1 Arina Puzriakova Phenotypes for gene: SCO1 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Fetal anomalies v1.111 MAPRE2 Arina Puzriakova Phenotypes for gene: MAPRE2 were changed from Circumferential Skin Creases Kunze Type to Symmetric circumferential skin creases, congenital, 2, 616734
Fetal anomalies v1.110 MAPRE2 Arina Puzriakova Publications for gene: MAPRE2 were set to
Fetal anomalies v1.109 MAPRE2 Arina Puzriakova Mode of inheritance for gene: MAPRE2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.108 ASXL3 Arina Puzriakova commented on gene: ASXL3
Fetal anomalies v1.108 GFRA1 Zornitza Stark gene: GFRA1 was added
gene: GFRA1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFRA1 were set to 33020172
Phenotypes for gene: GFRA1 were set to Renal agenesis
Review for gene: GFRA1 was set to AMBER
Added comment: Two unrelated families reported with bi-allelic LOF variants identified in individuals with bilateral renal agenesis. GFRA1 gene encodes a receptor on the Wolffian duct that regulates ureteric bud outgrowth in the development of a functional renal system. Also relevant to the CAKUT panel.
Sources: Literature
Fetal anomalies v1.108 TRAPPC12 Rhiannon Mellis reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32347653; Phenotypes: Hydrocephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.108 MFSD2A Arina Puzriakova Phenotypes for gene: MFSD2A were changed from MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486
Fetal anomalies v1.107 NEK9 Rhiannon Mellis edited their review of gene: NEK9: Added comment: Deden et al (2020) report a further family with two consecutive prenatal presentations with compound heterozygous NEK9 variants. Both fetuses had arthrogryposis.

Both variants were reported as VUS when detected in the first fetus, which initially presented with 'short long bones, bowed femur, micrognathia, talipes and deviated hand' but re-evaluated after the phenotype progressed to arthrogryposis and then the next pregnancy showed the same ultrasound abnormalities and the same compound het variants. At this point the authors felt this represented a conclusive diagnosis.; Changed rating: GREEN; Changed publications: PMID: 26908619, 26633546, 32333414; Changed phenotypes: Arthrogryposis, short long bones
Fetal anomalies v1.107 TMEM94 Arina Puzriakova Deleted their review
Fetal anomalies v1.107 TMEM94 Arina Puzriakova Deleted their comment
Fetal anomalies v1.107 TMEM94 Arina Puzriakova Tag for-review was removed from gene: TMEM94.
Fetal anomalies v1.107 TMEM94 Arina Puzriakova Classified gene: TMEM94 as Green List (high evidence)
Fetal anomalies v1.107 TMEM94 Arina Puzriakova Gene: tmem94 has been classified as Green List (High Evidence).
Fetal anomalies v1.106 TMEM94 Arina Puzriakova Classified gene: TMEM94 as Amber List (moderate evidence)
Fetal anomalies v1.106 TMEM94 Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.106 TMEM94 Arina Puzriakova Gene: tmem94 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.105 TMEM94 Arina Puzriakova Tag for-review tag was added to gene: TMEM94.
Fetal anomalies v1.105 CEP104 Arina Puzriakova Phenotypes for gene: CEP104 were changed from JOUBERT SYNDROME to Joubert syndrome 25, 616781
Fetal anomalies v1.104 USP18 Arina Puzriakova Classified gene: USP18 as Amber List (moderate evidence)
Fetal anomalies v1.104 USP18 Arina Puzriakova Added comment: Comment on list classification: With addition of the recently reported case (PMID:31940699) there is now a total of three families with pseudo-TORCH syndrome due to biallelic variants in USP18 (two carrying the same founder variant).

A rating upgrade from Amber to Green should be considered and therefore this gene will be flagged for review at the date of next GMS panel update (added 'for-review' tag).
Fetal anomalies v1.104 USP18 Arina Puzriakova Gene: usp18 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.103 USP18 Arina Puzriakova commented on gene: USP18: Added 'treatable' tag as clinical remission was achieved in a patient following rapid genetic diagnosis and subsequent treatment with the JAK inhibitor ruxolitinib
Fetal anomalies v1.103 USP18 Arina Puzriakova reviewed gene: USP18: Rating: ; Mode of pathogenicity: None; Publications: 31940699; Phenotypes: Pseudo-TORCH syndrome 2, 617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.103 USP18 Arina Puzriakova Publications for gene: USP18 were set to
Fetal anomalies v1.102 USP18 Arina Puzriakova Phenotypes for gene: USP18 were changed from Severe pseudo-TORCH syndrome to Pseudo-TORCH syndrome 2, 617397
Fetal anomalies v1.101 USP18 Arina Puzriakova Tag treatable tag was added to gene: USP18.
Tag for-review tag was added to gene: USP18.
Fetal anomalies v1.101 TMEM260 Rhiannon Mellis reviewed gene: TMEM260: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28318500; Phenotypes: STructural heart defects, Renal anomalies, Agenesis of corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.101 CTNND1 Eleanor Williams Tag for-review tag was added to gene: CTNND1.
Fetal anomalies v1.101 CTNND1 Eleanor Williams Classified gene: CTNND1 as Amber List (moderate evidence)
Fetal anomalies v1.101 CTNND1 Eleanor Williams Added comment: Comment on list classification: Leaving amber for now, but this gene should be reviewed at the next GMS update.
Fetal anomalies v1.101 CTNND1 Eleanor Williams Gene: ctnnd1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.100 CTNND1 Eleanor Williams reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32196547; Phenotypes: Blepharocheilodontic syndrome 2, 617681, cardiovascular anomalies, developmental delay, choanal atresia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.100 TRPM7 Eleanor Williams Classified gene: TRPM7 as Amber List (moderate evidence)
Fetal anomalies v1.100 TRPM7 Eleanor Williams Added comment: Comment on list classification: Adding this gene as amber. This gene should be reviewed for relevance on phenotypic grounds
Fetal anomalies v1.100 TRPM7 Eleanor Williams Gene: trpm7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.99 TRPM7 Eleanor Williams reviewed gene: TRPM7: Rating: AMBER; Mode of pathogenicity: None; Publications: 32503408, 31423533; Phenotypes: Cardiac arrhythmia, stillbirth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.99 FOXC1 Eleanor Williams Publications for gene: FOXC1 were set to
Fetal anomalies v1.98 FOXC1 Eleanor Williams reviewed gene: FOXC1: Rating: ; Mode of pathogenicity: None; Publications: 32720677; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.98 NEK9 Rhiannon Mellis reviewed gene: NEK9: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26908619, 26633546; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.98 SMN1 Eleanor Williams Publications for gene: SMN1 were set to 11826188
Fetal anomalies v1.97 SMN1 Eleanor Williams reviewed gene: SMN1: Rating: ; Mode of pathogenicity: None; Publications: 32644125, 32644120; Phenotypes: Spinal muscular atrophy; Mode of inheritance: None
Fetal anomalies v1.97 NUAK2 Zornitza Stark gene: NUAK2 was added
gene: NUAK2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NUAK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUAK2 were set to 32845958
Phenotypes for gene: NUAK2 were set to Anencephaly
Review for gene: NUAK2 was set to AMBER
Added comment: Novel gene described in single consanguineous family with three FDIU and extensive anencephaly. Hom inframe del affecting functional kinase domain, parents confirmed carriers. Good functional data showing loss of enzyme function and mouse model with 40% anencephaly after knock-out.
Sources: Literature
Fetal anomalies v1.97 GREB1L Rhiannon Mellis reviewed gene: GREB1L: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31424080, 32378186; Phenotypes: Renal agenesis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.97 AGRN Rhiannon Mellis reviewed gene: AGRN: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31730230; Phenotypes: Fetal akinesia deformation sequence; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.97 ATP1A2 Rhiannon Mellis reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31608932; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.97 AHCY Arina Puzriakova Publications for gene: AHCY were set to 30121674; 20852937
Fetal anomalies v1.96 AHCY Arina Puzriakova Classified gene: AHCY as Amber List (moderate evidence)
Fetal anomalies v1.96 AHCY Arina Puzriakova Added comment: Comment on list classification: With addition of the recent publication (PMID:31957987) describing a patient with foetal hydrops, among other features, there is now sufficient evidence to rate this gene GREEN at the next major review.
Fetal anomalies v1.96 AHCY Arina Puzriakova Gene: ahcy has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.95 AHCY Arina Puzriakova Tag for-review tag was added to gene: AHCY.
Fetal anomalies v1.95 AHCY Arina Puzriakova reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: 31957987; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.95 ASXL3 Rhiannon Mellis reviewed gene: ASXL3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29316359; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.95 B9D2 Rhiannon Mellis gene: B9D2 was added
gene: B9D2 was added to Fetal anomalies. Sources: Literature,NHS GMS
Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D2 were set to PMID: 21763481; 26092869
Phenotypes for gene: B9D2 were set to Joubert syndrome; Meckel syndrome
Review for gene: B9D2 was set to GREEN
gene: B9D2 was marked as current diagnostic
Added comment: 2 fetuses with MKS in one consanguineous family with homozygous B9D2 pathogenic variants. Functional studies of the variant confirmed loss of function. (PMID: 21763481)
2 unrelated patients with Joubert syndrome with different compound het B9D2 variants. (PMID: 26092869)

NB: Currently Green in ciliopathies panels. We report variants in this gene on our postnatal ciliopathies panel at GOSH/NTGLH.
Sources: Literature, NHS GMS
Fetal anomalies v1.95 B9D1 Rhiannon Mellis reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32622957, 24886560; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.95 TMEM107 Rhiannon Mellis gene: TMEM107 was added
gene: TMEM107 was added to Fetal anomalies. Sources: Literature,NHS GMS
Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM107 were set to PMID: 26123494; 26518474; 26595381
Phenotypes for gene: TMEM107 were set to ?Joubert syndrome 29; Meckel syndrome 13; Orofaciodigital syndrome XVI
Review for gene: TMEM107 was set to GREEN
gene: TMEM107 was marked as current diagnostic
Added comment: 2 unrelated infants, born of consanguineous Saudi parents, with Meckel syndrome-13 (PMID: 26123494)
1 patient with oro-facio-digital syndrome, and a mouse model with ciliopathy phenotype (PMID: 26518474)
1 man with Jouberts syndrome and female twins (from an unrelated family) with orofaciodigital syndrome. Additional functional studies. (PMID: 26595381)

NB: Currently Green on rare multisystem/renal/neurological ciliopathies panels. We report variants in this gene on our postnatal ciliopathies panel at GOSH/NTGLH
Sources: Literature, NHS GMS
Fetal anomalies v1.95 TMEM216 Rhiannon Mellis reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20036350, 20512146; Phenotypes: Joubert syndrome, Meckel syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v1.95 KIF14 Rhiannon Mellis gene: KIF14 was added
gene: KIF14 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF14 were set to PMID: 24128419; 30388224; 28892560; 29343805
Phenotypes for gene: KIF14 were set to ?Meckel syndrome 12; Microcephaly 20, primary
Review for gene: KIF14 was set to GREEN
gene: KIF14 was marked as current diagnostic
Added comment: Two fetuses in one family with complex multiple congenital anomalies consistent with ciliopathy phenotype. (PMID: 24128419)
Four more families with fetuses with similar phenotype (microcephaly, brain malformations and renal agenesis or hypodysplasia). Also functional (zebrafish) studies. Authors conclude that LOF variants cause the above syndromic phenotype while hypomorphic variants cause microcephaly without kidney defects. (PMID: 30388224)

Four unrelated families with AR primary microcephaly and biallelic KIF14 pathogenic variants (PMID: 28892560)
Four more unrelated families with AR primary microcephaly and biallelic KIF14 pathogenic variants. Two sibs from one of the families were fetuses with severe microcephaly detected prenatally and leading to termination of pregnancy. (PMID: 29343805)
Sources: Literature
Fetal anomalies v1.95 SLC20A1 Zornitza Stark gene: SLC20A1 was added
gene: SLC20A1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC20A1 were set to 32850778; 27013921
Phenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC)
Review for gene: SLC20A1 was set to GREEN
gene: SLC20A1 was marked as current diagnostic
Added comment: Three individuals and animal model supporting role of this gene in urinary tract and urorectal development. We have included on our CAKUT panel.
Sources: Literature
Fetal anomalies v1.95 TRPM7 Zornitza Stark gene: TRPM7 was added
gene: TRPM7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM7 were set to 32503408; 31423533
Phenotypes for gene: TRPM7 were set to Cardiac arrhythmia, stillbirth
Review for gene: TRPM7 was set to AMBER
Added comment: I am not sure if genes linked to stillbirth belong on this panel. This gene encodes an ion channel expressed in the nervous and cardiac systems. It has previously been associated with ALS/dementia in the Guam population, but the variant in question, p.Thr1482Ile is present in >23,000 hets in gnomad, which is out of keeping for a rare Mendelian disorder. Note recent publication associating missense variants with cardiac arrhythmia and stillbirth, with some functional data provided to substantiate effect of variant on protein function but not necessarily establish gene-disease association.
Sources: Literature
Fetal anomalies v1.95 GDF2 Zornitza Stark gene: GDF2 was added
gene: GDF2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDF2 were set to 32618121
Phenotypes for gene: GDF2 were set to Lymphatic dysplasia; hydrothorax; hydrops
Review for gene: GDF2 was set to RED
Added comment: Single family reported, two affected individuals. New MOI.

Monoallelic variants in this gene are associated with HHT/PAH.
Sources: Literature
Fetal anomalies v1.95 TOGARAM1 Arina Puzriakova Classified gene: TOGARAM1 as Red List (low evidence)
Fetal anomalies v1.95 TOGARAM1 Arina Puzriakova Added comment: Comment on list classification: Single family. Additional cases required to corroborate pathogenicity.
Fetal anomalies v1.95 TOGARAM1 Arina Puzriakova Gene: togaram1 has been classified as Red List (Low Evidence).
Fetal anomalies v1.94 TOGARAM1 Arina Puzriakova gene: TOGARAM1 was added
gene: TOGARAM1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439
Phenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus
Added comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene.

Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding.
Sources: Literature
Fetal anomalies v1.93 Catherine Snow Panel version has been signed off
Fetal anomalies v1.91 SRY Eleanor Williams Mode of inheritance for gene: SRY was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.90 SRY Eleanor Williams Added comment: Comment on mode of inheritance: Reverting to X-LINKED MOI as OMIM has XLD and YL inheritance listed.
Fetal anomalies v1.90 SRY Eleanor Williams Mode of inheritance for gene: SRY was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v1.89 SRY Eleanor Williams Added comment: Comment on mode of inheritance: Changing mode of inheritance to "Other" has this gene is on the Y chromosome.
Fetal anomalies v1.89 SRY Eleanor Williams Mode of inheritance for gene: SRY was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to Other
Fetal anomalies v1.88 PSAT1 Sarah Leigh commented on gene: PSAT1: There is enough evidence for this gene to be rated GREEN at the next major review.
Fetal anomalies v1.88 PSAT1 Sarah Leigh Deleted their comment
Fetal anomalies v1.88 PSAT1 Sarah Leigh reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.88 PSAT1 Sarah Leigh Tag for-review tag was added to gene: PSAT1.
Fetal anomalies v1.88 POLE Sarah Leigh Tag for-review tag was added to gene: POLE.
Fetal anomalies v1.88 TUBA8 Catherine Snow Classified gene: TUBA8 as Green List (high evidence)
Fetal anomalies v1.88 TUBA8 Catherine Snow Added comment: Comment on list classification: Change from Amber to Green, as requested by NHSE for signed-off panel.
Fetal anomalies v1.88 TUBA8 Catherine Snow Gene: tuba8 has been classified as Green List (High Evidence).
Fetal anomalies v1.87 SMG9 Catherine Snow Tag for-review tag was added to gene: SMG9.
Fetal anomalies v1.87 SMG9 Catherine Snow Classified gene: SMG9 as Amber List (moderate evidence)
Fetal anomalies v1.87 SMG9 Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.87 SMG9 Catherine Snow Gene: smg9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.86 PSAT1 Catherine Snow Classified gene: PSAT1 as Amber List (moderate evidence)
Fetal anomalies v1.86 PSAT1 Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.86 PSAT1 Catherine Snow Gene: psat1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.85 POLE Catherine Snow Classified gene: POLE as Amber List (moderate evidence)
Fetal anomalies v1.85 POLE Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.85 POLE Catherine Snow Gene: pole has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.84 GREB1L Catherine Snow Classified gene: GREB1L as Amber List (moderate evidence)
Fetal anomalies v1.84 GREB1L Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.84 GREB1L Catherine Snow Gene: greb1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.83 EXOC3L2 Catherine Snow Tag for-review tag was added to gene: EXOC3L2.
Fetal anomalies v1.83 EXOC3L2 Catherine Snow Classified gene: EXOC3L2 as Amber List (moderate evidence)
Fetal anomalies v1.83 EXOC3L2 Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.83 EXOC3L2 Catherine Snow Gene: exoc3l2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.82 CEP55 Catherine Snow Tag for-review tag was added to gene: CEP55.
Fetal anomalies v1.82 CEP55 Catherine Snow Classified gene: CEP55 as Amber List (moderate evidence)
Fetal anomalies v1.82 CEP55 Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.82 CEP55 Catherine Snow Gene: cep55 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.81 ALG9 Catherine Snow Tag for-review tag was added to gene: ALG9.
Fetal anomalies v1.81 ALG9 Catherine Snow Classified gene: ALG9 as Amber List (moderate evidence)
Fetal anomalies v1.81 ALG9 Catherine Snow Added comment: Comment on list classification: Change from Green to Amber as requested by NHSE for sign-off panel
Fetal anomalies v1.81 ALG9 Catherine Snow Gene: alg9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.80 TMEM94 Catherine Snow Classified gene: TMEM94 as Green List (high evidence)
Fetal anomalies v1.80 TMEM94 Catherine Snow Added comment: Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital)
Fetal anomalies v1.80 TMEM94 Catherine Snow Gene: tmem94 has been classified as Green List (High Evidence).
Fetal anomalies v1.79 GDF1 Catherine Snow Classified gene: GDF1 as Green List (high evidence)
Fetal anomalies v1.79 GDF1 Catherine Snow Added comment: Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital)
Fetal anomalies v1.79 GDF1 Catherine Snow Gene: gdf1 has been classified as Green List (High Evidence).
Fetal anomalies v1.78 COL3A1 Catherine Snow Classified gene: COL3A1 as Green List (high evidence)
Fetal anomalies v1.78 COL3A1 Catherine Snow Added comment: Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital)
Fetal anomalies v1.78 COL3A1 Catherine Snow Gene: col3a1 has been classified as Green List (High Evidence).
Fetal anomalies v1.77 CFAP53 Catherine Snow Classified gene: CFAP53 as Green List (high evidence)
Fetal anomalies v1.77 CFAP53 Catherine Snow Added comment: Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital)
Fetal anomalies v1.77 CFAP53 Catherine Snow Gene: cfap53 has been classified as Green List (High Evidence).
Fetal anomalies v1.76 CEP120 Catherine Snow Classified gene: CEP120 as Green List (high evidence)
Fetal anomalies v1.76 CEP120 Catherine Snow Added comment: Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital)
Fetal anomalies v1.76 CEP120 Catherine Snow Gene: cep120 has been classified as Green List (High Evidence).
Fetal anomalies v1.75 ACVR2B Catherine Snow Classified gene: ACVR2B as Green List (high evidence)
Fetal anomalies v1.75 ACVR2B Catherine Snow Added comment: Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital)
Fetal anomalies v1.75 ACVR2B Catherine Snow Gene: acvr2b has been classified as Green List (High Evidence).
Fetal anomalies v1.74 CALCRL Zornitza Stark gene: CALCRL was added
gene: CALCRL was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CALCRL were set to 30115739
Phenotypes for gene: CALCRL were set to Lymphatic malformation 8 (MIM# 618773); hydrops fetalis
Review for gene: CALCRL was set to RED
Added comment: Single family reported with several affected pregnancies.
Sources: Literature
Fetal anomalies v1.74 AMBRA1 Zornitza Stark gene: AMBRA1 was added
gene: AMBRA1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: AMBRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMBRA1 were set to 17589504; 32333458
Phenotypes for gene: AMBRA1 were set to Neural tube defects
Review for gene: AMBRA1 was set to GREEN
gene: AMBRA1 was marked as current diagnostic
Added comment: 5 rare missense variants were identified in 6 cases from a neural tube defect cohort, and 4 (p.Thr80Met, p.Leu274Phe, p.Ser743Phe, and p.Met884Val) of them were functionally validated to affect autophagy regulation in vitro or zebrafish embryo development in vivo. There is also null mouse model with neural tube defects.
Sources: Literature
Fetal anomalies v1.74 OTX2 Eleanor Williams reviewed gene: OTX2: Rating: ; Mode of pathogenicity: None; Publications: 32277752; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.74 NONO Suzanne Drury reviewed gene: NONO: Rating: ; Mode of pathogenicity: None; Publications: 32397791; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.74 SNAP29 Rhiannon Mellis reviewed gene: SNAP29: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 15968592, 21073448, 28388629; Phenotypes: CEDNIK syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.74 CEP120 Rhiannon Mellis gene: CEP120 was added
gene: CEP120 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP120 were set to PMID: 2720821; 25361962
Phenotypes for gene: CEP120 were set to Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly
Review for gene: CEP120 was set to GREEN
Added comment: PMID: 27208211 identifies CEP120 variants in 6 unrelated families, segregating with disease within the families, including four children with milder Joubert phenotype and two fetuses with prenatal phenotypes of more severe ciliopathy.

PMID: 25361962 describes 4 unrelated infants, 3 male and 1 female, with short-rib thoracic dysplasia and polydactyly (SRTD).

CEP120 is rated Green on the following PanelApp panels: Thoracic dystrophies, Skeletal dysplasia, Skeletal ciliopathies, Rare multisystem ciliopathy disorders.
Sources: Literature
Fetal anomalies v1.74 SLC12A6 Sarah Leigh commented on gene: SLC12A6: For-review tag has been added as it maybe appropriate to change the MOI to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified.
Fetal anomalies v1.74 SLC12A6 Sarah Leigh commented on gene: SLC12A6
Fetal anomalies v1.74 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to
Fetal anomalies v1.73 SLC12A6 Sarah Leigh Tag for-review tag was added to gene: SLC12A6.
Fetal anomalies v1.73 ACVR2B Zornitza Stark reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal 613751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.73 TMEM94 Rhiannon Mellis gene: TMEM94 was added
gene: TMEM94 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to PMID: 30526868
Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies
Review for gene: TMEM94 was set to GREEN
Added comment: Literature reports 10 patients from 6 unrelated families, and a mouse model PMID: 30526868

Reviewed with Prof Lyn Chitty for fetally relevant phenotype (Yes - Congenital heart malformations including: Atrial septal defect; Ventricular septal defect; Pulmonary hypoplasia; Pulmonary atresia; Tetralogy of Fallot; Double outlet right ventricle
Sources: Literature, Expert Review
Fetal anomalies v1.73 GDF1 Rhiannon Mellis gene: GDF1 was added
gene: GDF1 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDF1 were set to PMID: 20413652; 28991257; 17924340
Phenotypes for gene: GDF1 were set to Congenital heart defects, multiple types; Right atrial isomerism (Ivemark)
Review for gene: GDF1 was set to GREEN
Added comment: Right atrial isomerism (AR): 5 sibs in one family PMID: 20413652; One unrelated individual with RAI, complex cardiac anomalies, abdominal heterotaxy and asplenia PMID: 28991257

Other varied CHD (including ToF, DORV, TGA) (AD): 8 unrelated individuals PMID 17924340

Reviewed for fetally relevant phenotype by Prof Lyn Chitty (Yes)

This gene appears on our local heterotaxy panel (NETRGL) and as Green on Panelapp Laterality disorders panel and Familial non-syndromic CHD panel.
Sources: Literature, Expert Review
Fetal anomalies v1.73 CFAP53 Rhiannon Mellis gene: CFAP53 was added
gene: CFAP53 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP53 were set to PMID: 22577226; PMID: 25504577; PMID: 26531781
Phenotypes for gene: CFAP53 were set to Heterotaxy, visceral, 6, autosomal recessive; Dextrocardia; Transposition of the great arteries; gut malrotation; midline liver; inverted spleen
Review for gene: CFAP53 was set to GREEN
Added comment: Literature reports 6 individuals from 4 families and a zebrafish model PMID: 22577226, PMID: 25504577, PMID: 26531781

Reviewed for fetally relevant phenotype by Prof Lyn Chitty (yes).

This gene appears on our local heterotaxy panel (NETRGL) and on the Panelapp laterality disorders and non-syndromic CHD panels (Green)
Sources: Literature, Expert Review
Fetal anomalies v1.73 ACVR2B Rhiannon Mellis gene: ACVR2B was added
gene: ACVR2B was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVR2B were set to PMID: 9916847; PMID: 9242489
Phenotypes for gene: ACVR2B were set to Heterotaxy; Dextrocardia; Double outlet right ventricle; Transposition of the great arteries; Gut malrotation; polysplenia; right-sided spleen; asplenia
Review for gene: ACVR2B was set to GREEN
Added comment: Reported in literature 3 unrelated cases PMID: 9916847 and a mouse model PMID: 9242489

Reviewed by Prof Lyn Chitty for fetally relevant phenotype (yes).

This gene is included in our local heterotaxy panel (NETRGL).
Sources: Expert Review, Literature
Fetal anomalies v1.73 COL3A1 Rhiannon Mellis gene: COL3A1 was added
gene: COL3A1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: COL3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL3A1 were set to PMID: 28258187; 28742248; 25205403; 27168972; 24922459
Phenotypes for gene: COL3A1 were set to HP:0002126; HP:0001883; HP:0006496
Penetrance for gene: COL3A1 were set to Incomplete
Review for gene: COL3A1 was set to GREEN
Added comment: On OMIM COL3A1 has a polymicrogyria phenotype in the biallelic form, as well as talipes and other features (PMID: 28258187; PMID: 28742248; PMID: 25205403). No specifically prenatal reports of polymicrogyria in the literature but this feature would be detectable on fetal US and especially on fetal MRI.

A monoallelic COL3A1 variant has been reported in one case in a prenatal exome series (PMID: 27168972), causing EDS IV with a prenatal phenotype of forearm hypoplasia and phalangeal defects. PMID: 24922459 evidences that limb hypoplasia/limb reduction is observed in a small subset of EDS IV patients (5 unrelated cases), as well as talipes in a larger number, and occasionally facial clefts – all of which would be prenatally detectable features.
Sources: Literature
Fetal anomalies v1.73 ASXL3 Suzanne Drury commented on gene: ASXL3
Fetal anomalies v1.73 SHROOM4 Suzanne Drury gene: SHROOM4 was added
gene: SHROOM4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SHROOM4 were set to 32565546
Phenotypes for gene: SHROOM4 were set to HP:0001274
Review for gene: SHROOM4 was set to AMBER
Added comment: Reported in fetal case series of abnormal corpus callosum PMID:32565546. Case also had Blake's pouch cyst, Turner syndrome: mos46,X, psu idic(X)(p11.2)[19/45,X[6]
Sources: Literature
Fetal anomalies v1.73 PIGA Sarah Leigh Tag Skewed X-inactivation tag was added to gene: PIGA.
Fetal anomalies v1.73 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
Fetal anomalies v1.73 NUP88 Julia Baptista gene: NUP88 was added
gene: NUP88 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP88 were set to PMID: 30543681
Phenotypes for gene: NUP88 were set to fetal akinesia
Review for gene: NUP88 was set to RED
Added comment: Bonnin et al reported biallelic variants in two unrelated families.
A homozygous missense variant was identified in family A and the co-segregation data was supportive (tested 4 unaffected and 2 of the 4 affected fetuses). Compound heterozygous in-frame and nonsense variants were identified in the proband in family B (co-segregation studies in 2 unaffected sibs). The clinical features included fetal akinesia and arthrogryposis multiplex congenita. Polyhydramnios, muscle atrophy and dysmorphic features were also described.
Sources: Literature
Fetal anomalies v1.73 ITGA8 Rebecca Foulger Deleted their comment
Fetal anomalies v1.73 ITGA8 Rebecca Foulger Classified gene: ITGA8 as Amber List (moderate evidence)
Fetal anomalies v1.73 ITGA8 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber awaiting GLH review. Additional phenotypes were reported in the fetuses and sibling (who died perinatally) from PMID:24439109 (clubbed feet, facial dysmorphism, pulmonary hypoplasia, bilateral cryptorchidism) although renal agenesis is the primary phenotype and only 2 families from one paper.
Fetal anomalies v1.73 ITGA8 Rebecca Foulger Gene: itga8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.72 ITGA8 Rebecca Foulger changed review comment from: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the variant. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero.

The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period.; to: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the variant. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero.

The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period and presented with BRA and bilateral cryptorchidism.
Fetal anomalies v1.72 ITGA8 Rebecca Foulger Phenotypes for gene: ITGA8 were changed from RENAL HYPODYSPLASIA/APLASIA 1; Renal hypodysplasia/aplasia 1, 191830 to bilateral renal agenesis; anhydramnios; RENAL HYPODYSPLASIA/APLASIA 1; Renal hypodysplasia/aplasia 1, 191830
Fetal anomalies v1.71 ITGA8 Rebecca Foulger changed review comment from: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the varinat. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero.

The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period.; to: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the variant. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero.

The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period.
Fetal anomalies v1.71 ITGA8 Rebecca Foulger Classified gene: ITGA8 as Amber List (moderate evidence)
Fetal anomalies v1.71 ITGA8 Rebecca Foulger Added comment: Comment on list classification: Relevant phenotype (renal agenesis) but currently insufficient evidence (2 unrelated cases from PMID:24439109, and 'probable' rating in Gene2Phenotype) for diagnostic-grade rating.
Fetal anomalies v1.71 ITGA8 Rebecca Foulger Gene: itga8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.70 ITGA8 Rebecca Foulger Phenotypes for gene: ITGA8 were changed from RENAL HYPODYSPLASIA/APLASIA 1 to RENAL HYPODYSPLASIA/APLASIA 1; Renal hypodysplasia/aplasia 1, 191830
Fetal anomalies v1.70 ITGA8 Rebecca Foulger Publications for gene: ITGA8 were set to
Fetal anomalies v1.69 ITGA8 Rebecca Foulger commented on gene: ITGA8: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the varinat. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero.

The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period.
Fetal anomalies v1.69 REN Rebecca Foulger Publications for gene: REN were set to
Fetal anomalies v1.68 REN Rebecca Foulger commented on gene: REN: PMID:31736371. He et al., performed a study to identify the potentially pathogenic gene variants that contribute to the AR renal tubular dysgenesis (RTD) in an aborted fetus. WES was performed on the fetus and his parents. Compound heterozygous variants (c.963T>A, p.Y321X and c.492+1G>A splicing site mutation) were identified in the fetus, one inherited from each parent.
Fetal anomalies v1.68 ACTG2 Rebecca Foulger Publications for gene: ACTG2 were set to 25998219; 30712878
Fetal anomalies v1.67 GREB1L Rebecca Foulger commented on gene: GREB1L: Added 'for-review' tag: Gene has been added and assessed by Curation team but not yet reviewed by clinical team.
Fetal anomalies v1.67 GREB1L Rebecca Foulger Tag for-review tag was added to gene: GREB1L.
Fetal anomalies v1.67 GREB1L Rebecca Foulger Classified gene: GREB1L as Green List (high evidence)
Fetal anomalies v1.67 GREB1L Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following curation of PMID:29100091 which presents additional fetal cases of renal agenesis and GREB1L variants. Sufficient evidence for association of GREB1L with kidney agenesis, and phenotype can present fetally.
Fetal anomalies v1.67 GREB1L Rebecca Foulger Gene: greb1l has been classified as Green List (High Evidence).
Fetal anomalies v1.66 GREB1L Rebecca Foulger Publications for gene: GREB1L were set to 29261186
Fetal anomalies v1.65 GREB1L Rebecca Foulger commented on gene: GREB1L: PMID:29100091. Tomasi et al., 2017. WES or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L.
Fetal cases with bilateral kidney agenesis include p.Gln528Argfs*12 (also present in their alive brother with unilateral kidney agenesis) and splice variant c.4369−1G>C.
Fetal anomalies v1.65 GREB1L Rebecca Foulger Classified gene: GREB1L as Amber List (moderate evidence)
Fetal anomalies v1.65 GREB1L Rebecca Foulger Added comment: Comment on list classification: Added to panel and set rating to Amber. Not yet associated with a disorder in Gene2Phenotype, but 2 fetal cases presented in PMID:29261186. Renal agenesis phenotype is relevant to the panel. Therefore Amber awaiting further cases.
Fetal anomalies v1.65 GREB1L Rebecca Foulger Gene: greb1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.64 GREB1L Rebecca Foulger gene: GREB1L was added
gene: GREB1L was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GREB1L were set to 29261186
Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, 617805; renal agenesis
Added comment: Added to Fetal panel based on PMID:29261186 (Boissel et al., 2018) who performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies. In 2 cases presenting with renal agenesis, de novo variants in GREB1L were identified (p.A968V and p.S98X).
Sources: Literature
Fetal anomalies v1.63 ACTG2 Rebecca Foulger Mode of pathogenicity for gene: ACTG2 was changed from to Other
Fetal anomalies v1.62 ACTG2 Rebecca Foulger Phenotypes for gene: ACTG2 were changed from Visceral myopathy 155310 to Visceral myopathy 155310; Fetal Megacystis
Fetal anomalies v1.61 ACTG2 Rebecca Foulger Publications for gene: ACTG2 were set to
Fetal anomalies v1.60 ACE Rebecca Foulger commented on gene: ACE: PMID:30058238 (Bhowmik et al., 2018) report a 32-week old fetus with severe early onset oligohydramnios. A similarly affected sibling was reported from a previous pregnancy. Exome sequencing revealed a homozygous 3' splice-site variant in intron 17 of ACE gene, which confirmed AR renal tubular dysgenesis. It also facilitated prenatal diagnosis in a subsequent pregnancy.
Fetal anomalies v1.60 ACE Rebecca Foulger Publications for gene: ACE were set to
Fetal anomalies v1.59 GJB2 Rebecca Foulger commented on gene: GJB2: Note that GJB2 is no longer present on the DD panel of Gene2Phenotype. All GJB2 phenotypes (May 2020) are associated with the Gene2Phenotype skin panel. Red rating is still appropriate for this Fetal panel.
Fetal anomalies v1.59 SUZ12 Eleanor Williams Phenotypes for gene: SUZ12 were changed from Weaver-like overgrowth syndrome to Weaver-like overgrowth syndrome; Imagawa-Matsumoto syndrome #618786
Fetal anomalies v1.58 EXOC3L2 Rebecca Foulger Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation to Dandy-Walker malformation; Meckel-Gruber-like syndrome
Fetal anomalies v1.57 PSAT1 Rebecca Foulger Classified gene: PSAT1 as Green List (high evidence)
Fetal anomalies v1.57 PSAT1 Rebecca Foulger Added comment: Comment on list classification: Rated 'probable' for Neu-Laxova syndrome in Gene2Phenotype, but there are sufficient cases from the literature to support causation (6 families in PMID:25152457 and 1 Chinese family in PMID:31903955). Therefore updated rating from Amber to Green: Fetally-relevant phenotype and sufficient evidence.
Fetal anomalies v1.57 PSAT1 Rebecca Foulger Gene: psat1 has been classified as Green List (High Evidence).
Fetal anomalies v1.56 PSAT1 Rebecca Foulger Phenotypes for gene: PSAT1 were changed from NEU-LAXOVA SYNDROME; PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY to Neu-Laxova syndrome 2, 616038; NEU-LAXOVA SYNDROME; PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
Fetal anomalies v1.55 PSAT1 Rebecca Foulger Publications for gene: PSAT1 were set to
Fetal anomalies v1.54 PSAT1 Rebecca Foulger commented on gene: PSAT1: PMID:31903955 (Ni et al., 2019) report Chinese Neu-Laxova syndrome (NLS) patients from 2 families. Compound het PSAT1 variants R342W and Y70N were found in the proband from family 1. (PHGDH variants were identified in family 2).
Fetal anomalies v1.54 PSAT1 Rebecca Foulger commented on gene: PSAT1: PMID:25152457. Acuna-Hidalgo et al., 2014 report a rare AR disorder with severe malformations leading to prenatal or early postnatal lethality (Neu-Laxova syndrome). They identified variants in PHGDH, PSAT1 and PSPH in individuals with NLS, including 6 families with 3 different missense and frameshift PSAT1 variants which segregated with the disease.
Fetal anomalies v1.54 ATP1A2 Rebecca Foulger Classified gene: ATP1A2 as Amber List (moderate evidence)
Fetal anomalies v1.54 ATP1A2 Rebecca Foulger Added comment: Comment on list classification: Added to panel with Amber review by Zornitza Stark. Not yet associated with a disorder in Gene2Phenotype. 2 families reported in PMID:30690204 with a fetally-relevant phenotype (including fetal hydrops). Therefore rated Amber awaiting further cases.
Fetal anomalies v1.54 ATP1A2 Rebecca Foulger Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.53 ATP1A2 Rebecca Foulger commented on gene: ATP1A2
Fetal anomalies v1.53 ALG9 Rebecca Foulger Phenotypes for gene: ALG9 were changed from AR lethal skeletal dysplasia; ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis to Gillessen-Kaesbach-Nishimura syndrome, 263210; AR lethal skeletal dysplasia; ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis
Fetal anomalies v1.52 ALG9 Rebecca Foulger changed review comment from: Comment on list classification: ALG9 congenital disorder of glycosylation disorder has a broad phenotype and can include non-immune hydrops/NIHF (PMID:26453364 and 31420886). Although the NIHF phenotype is not consistent, even within families carrying the same variant, there are additional prenatal phenotypes reported in the literature for ALG9 cases: 3 fetally-lethal cases of skeletal dysplasia in PMID:25966638, and an individual with multiple malformations detected prenatally in PMID:28932688. Overall: fetally-relevant phenotype and sufficient cases for inclusion on panel and have therefore increased rating from Amber to Green.; to: Comment on list classification: ALG9 congenital disorder of glycosylation has a broad phenotype and can include non-immune hydrops/NIHF (PMID:26453364 and 31420886). Although the NIHF phenotype is not consistent, even within families carrying the same variant, there are additional prenatal phenotypes reported in the literature for ALG9 cases: 3 fetally-lethal cases of skeletal dysplasia in PMID:25966638, and an individual with multiple malformations detected prenatally in PMID:28932688. Overall: fetally-relevant phenotype and sufficient cases for inclusion on panel and have therefore increased rating from Amber to Green.
Fetal anomalies v1.52 ALG9 Rebecca Foulger Classified gene: ALG9 as Green List (high evidence)
Fetal anomalies v1.52 ALG9 Rebecca Foulger Added comment: Comment on list classification: ALG9 congenital disorder of glycosylation disorder has a broad phenotype and can include non-immune hydrops/NIHF (PMID:26453364 and 31420886). Although the NIHF phenotype is not consistent, even within families carrying the same variant, there are additional prenatal phenotypes reported in the literature for ALG9 cases: 3 fetally-lethal cases of skeletal dysplasia in PMID:25966638, and an individual with multiple malformations detected prenatally in PMID:28932688. Overall: fetally-relevant phenotype and sufficient cases for inclusion on panel and have therefore increased rating from Amber to Green.
Fetal anomalies v1.52 ALG9 Rebecca Foulger Gene: alg9 has been classified as Green List (High Evidence).
Fetal anomalies v1.51 ALG9 Rebecca Foulger Deleted their comment
Fetal anomalies v1.51 ALG9 Rebecca Foulger Tag for-review was removed from gene: ALG9.
Fetal anomalies v1.51 ALG9 Rebecca Foulger Phenotypes for gene: ALG9 were changed from ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis to AR lethal skeletal dysplasia; ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis
Fetal anomalies v1.50 ALG9 Rebecca Foulger Publications for gene: ALG9 were set to 26453364; 31420886
Fetal anomalies v1.49 ALG9 Rebecca Foulger changed review comment from: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero
, they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys.; to: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero, they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys.
Fetal anomalies v1.49 ALG9 Rebecca Foulger commented on gene: ALG9: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero
, they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys.
Fetal anomalies v1.49 ALG9 Rebecca Foulger commented on gene: ALG9: PMID:25966638 (Tham et al) performed fetal autopsy on 3 affected fetuses who died in utero from 2 unrelated families (from Turkey and Iraq) with Gillessen-Kaesbach-Nishimura syndrome (AR lethal skeletal dysplasia). All patients were homozygous for a splicing variant in ALG9 (NM_024740.2: c.1173+2T>A).
Fetal anomalies v1.49 ALG9 Rebecca Foulger Tag for-review tag was added to gene: ALG9.
Fetal anomalies v1.49 ALG9 Rebecca Foulger Classified gene: ALG9 as Amber List (moderate evidence)
Fetal anomalies v1.49 ALG9 Rebecca Foulger Added comment: Comment on list classification: Inborn errors of glycosylation can be a cause of non‐immune hydrops fetalis. Although G2P has a 'probable' GDA rating, there is sufficient evidence to link ALG9 to a glycosylation disorder. Approx 20% of cases show non-immune hydrops fetalis (NIHF). In PMID:26453364, 1/10 patients had NIHF: the patient was one of 4 patients within a consanguineous family and hydrops was not reported for the other 3 cousins. 3/15 ALG9 families reported with hydrops in PMID:31420886. Since phenotype is inconsistent, have kept rating as Amber awaiting further clinical review as to whether there are sufficient cases for inclusion on Fetal anomalies panel.
Fetal anomalies v1.49 ALG9 Rebecca Foulger Gene: alg9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.48 ALG9 Rebecca Foulger Publications for gene: ALG9 were set to
Fetal anomalies v1.47 ALG9 Rebecca Foulger Phenotypes for gene: ALG9 were changed from ALG9-CDG to ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis
Fetal anomalies v1.46 ALG9 Rebecca Foulger commented on gene: ALG9: PMID:31420886 Makhamreh et al., 2020 provide a literature review of Nonimmune hydrops fetalis (NIHF) and congenital disorders of glycosylation. 3/15 families had NIHF and ALG9 variants (20%). Full text unavailable at time of curation.
Fetal anomalies v1.46 ALG9 Rebecca Foulger commented on gene: ALG9: PMID:26453364. AlSubhi et al., 2016 summarise 6 patients with ALG9-CDG from the literature and report 4 additional patients from a large consanguineous family. Patient IV:3/patient4 (a male cousin of the index patient) presented with nonimmune hydrops fetalis diagnosed by fetal US at 28 weeks, and a novel homozygous variant p.E350K in the ALG9 gene. Table 2 doesn't list Hydrops in any of the previous patients.
Fetal anomalies v1.46 WDR34 Catherine Snow Tag new-gene-name tag was added to gene: WDR34.
Fetal anomalies v1.46 WDR34 Catherine Snow commented on gene: WDR34
Fetal anomalies v1.46 WDR60 Catherine Snow commented on gene: WDR60
Fetal anomalies v1.46 WDR60 Catherine Snow Tag new-gene-name tag was added to gene: WDR60.
Fetal anomalies v1.46 AHCY Rebecca Foulger Phenotypes for gene: AHCY were changed from S-adenosylhomocysteine hydrolase deficiency; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 to Fetal hydrops; S-adenosylhomocysteine hydrolase deficiency; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
Fetal anomalies v1.45 AHCY Rebecca Foulger Classified gene: AHCY as Amber List (moderate evidence)
Fetal anomalies v1.45 AHCY Rebecca Foulger Added comment: Comment on list classification: Added to panel and rated Amber by Zornitza Stark. Two unrelated families with hydrops reported (PMID:30121674, 20852937). Note that previous reports of AHCY deficiency do not include hydrops (e.g. PMID:15024124). Overall, phenotype is relevant to the panel but currently insufficient evidence for Green rating. Rated Amber awaiting further evidence.
Fetal anomalies v1.45 AHCY Rebecca Foulger Gene: ahcy has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.44 AHCY Rebecca Foulger commented on gene: AHCY: PMID:20852937. Grubbs et al., 2010 report 2 sisters born with fetal hydrops and compound het for 2 variants in AHCY (p.Arg49Cys and p.Asp86Gly). Phenotypes included severe hypotonia/myopathy, feeding problems, and respiratory failure. The sisters died age 25 days and 122 days.
Fetal anomalies v1.44 AHCY Rebecca Foulger commented on gene: AHCY
Fetal anomalies v1.44 AHCY Rebecca Foulger Phenotypes for gene: AHCY were changed from S-adenosylhomocysteine hydrolase deficiency to S-adenosylhomocysteine hydrolase deficiency; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
Fetal anomalies v1.43 SMG9 Rebecca Foulger Publications for gene: SMG9 were set to
Fetal anomalies v1.43 SMG9 Rebecca Foulger Phenotypes for gene: SMG9 were changed from SMG9 Multiple Congenital Anomaly Syndrome to SMG9 Multiple Congenital Anomaly Syndrome; Heart and brain malformation syndrome, 616920
Fetal anomalies v1.42 SMG9 Rebecca Foulger Classified gene: SMG9 as Green List (high evidence)
Fetal anomalies v1.42 SMG9 Rebecca Foulger Added comment: Comment on list classification: Rated probable in Gene2Phenotype for SMG9 Multiple Congenital Anomaly Syndrome based on 2 families in PMID:27018474. Additional family now reported in PMID:31390136. Fetally-relevant phenotype (anomalies detected in-utero) and sufficient cases to support causation. Therefore upgraded from Amber to Green.
Fetal anomalies v1.42 SMG9 Rebecca Foulger Gene: smg9 has been classified as Green List (High Evidence).
Fetal anomalies v1.41 SMG9 Rebecca Foulger commented on gene: SMG9: PMID:31390136. Lecoquierre et al., 2019 performed exome sequencing in a patient with syndromic DD and diverse malformations including cleft lip and palate, facial dysmorphia, brain abnormalities, herat defect, growth retardation and severe infections. She carried a homozygous SMG9 variant, p.(Gln393*). Her unaffected parents were both heterozygous. Phenotypes were first noted in-utero: polyhydamnios, lateral cleft lip and palate, and IUGR noted on ultrasound.
Fetal anomalies v1.41 SMG9 Rebecca Foulger commented on gene: SMG9: PMID:27018474. Shaheen et al, 2016 report 2 consanguineous families with different homozygous LOF variants in SMG9 and and a similar set of congenital anomalies including craniofacial dysmorphism, and major brain and heart malformations.
Fetal anomalies v1.41 TUBA8 Rebecca Foulger Classified gene: TUBA8 as Amber List (moderate evidence)
Fetal anomalies v1.41 TUBA8 Rebecca Foulger Added comment: Comment on list classification: The reanalysis in PMID:28388629 casts doubt that TUBA8 is responsible for the morphological phenotypes initially reported in PMID:19896110. Only 2 families (of possible shared descent) were reported. Therefore insufficient evidence for Green rating. Downgraded from Green to Amber.
Fetal anomalies v1.41 TUBA8 Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.40 TUBA8 Rebecca Foulger commented on gene: TUBA8: In 4 affected members of 2 consanguineous Pakistani families with MIM:613180, Abdollahi et al. (2009, PMID:19896110) identified a homozygous 14-bp deletion 11 bp upstream of the exon 2 splice site junction in TUBA8. The families may have common ancestory. All obligate carriers were heterozygous. The patients had neonatal hypotonia, profound mental retardation, essentially no psychomotor development, optic nerve hypoplasia, and thickened cortex with polymicrogyria and absent corpus callosum. BUT due to lack of a mouse TUBA8 phenotype, the authors in PMID:28388629 (Diggle et al 2017) reanalysed their patients from PMID:19896110 and found an additional LOF variant in SNAP29 (p.Ser163Lysfs*6). The authors suggest that SNAP29 deficiency, rather than TUBA8 deficiency, may be responsible for the patient phenotypes.
Fetal anomalies v1.40 TUBA8 Rebecca Foulger Phenotypes for gene: TUBA8 were changed from POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA to POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA; Cortical dysplasia, complex, with other brain malformations 8, 613180
Fetal anomalies v1.39 TUBA8 Rebecca Foulger Publications for gene: TUBA8 were set to
Fetal anomalies v1.38 TUBA8 Rebecca Foulger Tag for-review tag was added to gene: TUBA8.
Fetal anomalies v1.38 PAICS Rebecca Foulger Classified gene: PAICS as Amber List (moderate evidence)
Fetal anomalies v1.38 PAICS Rebecca Foulger Added comment: Comment on list classification: Added to the panel and rated Red by Zornitza. Phenotype is appropriate for the panel, but insufficient cases to support causation. Therefore rated Amber, awaiting further publications/clinical evidence. Not yet associated with a disorder in Gene2Phenotype.
Fetal anomalies v1.38 PAICS Rebecca Foulger Gene: paics has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.37 PAICS Rebecca Foulger Phenotypes for gene: PAICS were changed from Polyhydramnios; multiple congenital abnormalities to Polyhydramnios; multiple congenital abnormalities; early neonatal death
Fetal anomalies v1.36 PAICS Rebecca Foulger changed review comment from: PMID:31600779. Pelet et al. report an AR inborn error of de novo purine synthesis due to homozygous missense vairant in PAICS (c.158A>G; p.Lys53Arg) in 2 siblings from the Faroe islands. Catalytic activity of the mutant protein was approx 25% of wild type levels. The siblings had multiple malformations resulting in early neonatal death.; to: PMID:31600779. Pelet et al. report an AR inborn error of de novo purine synthesis due to homozygous missense variant in PAICS (c.158A>G; p.Lys53Arg) in 2 siblings from the Faroe islands. Catalytic activity of the mutant protein was approx 25% of wild type levels. The siblings had multiple malformations resulting in early neonatal death.
Fetal anomalies v1.36 PAICS Rebecca Foulger commented on gene: PAICS
Fetal anomalies v1.36 MSL3 Rebecca Foulger Phenotypes for gene: MSL3 were changed from MSL3 syndrome to MSL3 syndrome; Basilicata-Akhtar syndrome, 301032
Fetal anomalies v1.35 CNOT3 Rebecca Foulger Phenotypes for gene: CNOT3 were changed from CNOT3 syndrome; Intellectual developmental disorder with speech delay, 618672 autism, and dysmorphic facies to CNOT3 syndrome; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672
Fetal anomalies v1.34 CNOT3 Rebecca Foulger Phenotypes for gene: CNOT3 were changed from CNOT3 syndrome to CNOT3 syndrome; Intellectual developmental disorder with speech delay, 618672 autism, and dysmorphic facies
Fetal anomalies v1.33 FGF20 Rebecca Foulger Classified gene: FGF20 as Red List (low evidence)
Fetal anomalies v1.33 FGF20 Rebecca Foulger Added comment: Comment on list classification: Not yet associated with a disorder in Gene2Phenotype. One consanguineous family plus functional studies in mice showing a role in kidney development. Therefore kept rating as Red awaiting further evidence.
Fetal anomalies v1.33 FGF20 Rebecca Foulger Gene: fgf20 has been classified as Red List (Low Evidence).
Fetal anomalies v1.32 FGF20 Rebecca Foulger gene: FGF20 was added
gene: FGF20 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FGF20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF20 were set to 22698282; 23112089
Phenotypes for gene: FGF20 were set to ?Renal hypodysplasia/aplasia 2, 615721
Added comment: Added to Fetal panel based on literature search. PMID:22698282. Barak et al., 2012 identify a homozygous frameshift truncating variant (c.337delG) in FGF20, which segregated with the disorder in a consanguineous familly. Pregnancies showed anhydramnios and the fetuses had bilateral renal agenesis. All pregnancies were terminated. Mouse model shows loss of Fgf20 resulted in kidney agenesis. Additional papers report functional experiments (in mice) that confirm role of FGF20 in kidney development (e.g. PMID:23112089).
Sources: Literature
Fetal anomalies v1.31 EXOC3L2 Rebecca Foulger Classified gene: EXOC3L2 as Green List (high evidence)
Fetal anomalies v1.31 EXOC3L2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: 3 unrelated fetal cases (PMIDs:27894351,28749478,30327448).
Fetal anomalies v1.31 EXOC3L2 Rebecca Foulger Gene: exoc3l2 has been classified as Green List (High Evidence).
Fetal anomalies v1.30 EXOC3L2 Rebecca Foulger changed review comment from: PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family.; to: PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family (reviewed briefly in PMID:28749478).
Fetal anomalies v1.30 EXOC3L2 Rebecca Foulger commented on gene: EXOC3L2: PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family.
Fetal anomalies v1.30 EXOC3L2 Rebecca Foulger Publications for gene: EXOC3L2 were set to 30327448; 28749478
Fetal anomalies v1.29 EXOC3L2 Rebecca Foulger Publications for gene: EXOC3L2 were set to 30327448
Fetal anomalies v1.28 EXOC3L2 Rebecca Foulger commented on gene: EXOC3L2: PMID: 28749478: Shamseldin et al., 2018 performed exome sequencing as part of molecular autopsy in a cohort of 44 families with at least one death or lethal fetal malformation. They report one fetus with a biallelic EXOC3L2 variant and a phenotype similar to Meckel-Gruber syndrome.
Fetal anomalies v1.28 EXOC3L2 Rebecca Foulger gene: EXOC3L2 was added
gene: EXOC3L2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC3L2 were set to 30327448
Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation
Added comment: Added to panel based on PMID:30327448: Shalata et al., 2019 report 3 fetuses from a family with homozygous variants in EXOC3L2 (missense p.Leu41Gln) and severe forms of Dandy-Walker that were detectable by prenatal ultrasound.
Sources: Literature
Fetal anomalies v1.27 DHCR7 Rebecca Foulger commented on gene: DHCR7: PMID:31840946 (Schoner et al., 2020) performed autopsies and DHCR7 gene analyses in 8 fetuses suspected of having SLOS. 5/9 fetuses presented with classic SLOS features including 4 with atrial/atrioventricular septal defects and renal anomalies, and one with additional bilateral renal agenesis and a Dandy-Walker cyst. Two fetuses were mildly affected and two fetuses showed additional holoprosencephaly. DHCR7 variants were confirmed in cases 1-5 and 7.
Fetal anomalies v1.27 DHCR7 Rebecca Foulger Publications for gene: DHCR7 were set to
Fetal anomalies v1.26 POLE Rebecca Foulger changed review comment from: Comment on list classification: Updated rating from Amber to Green: Multiple cases of IUGR from 2 papers (PMID:25948378 and PMID:30503519). Phenotype relevant to panel, and sufficient evidence to support causation.; to: Comment on list classification: Originally added to panel as Amber based on PMID:30503519. Updated rating from Amber to Green with curation of additional paper PMID:25948378 who report a separate individual with IUGR. Phenotype relevant to panel, and sufficient evidence to support causation.
Fetal anomalies v1.26 POLE Rebecca Foulger Deleted their comment
Fetal anomalies v1.26 POLE Rebecca Foulger Classified gene: POLE as Green List (high evidence)
Fetal anomalies v1.26 POLE Rebecca Foulger Gene: pole has been classified as Green List (High Evidence).
Fetal anomalies v1.25 POLE Rebecca Foulger Classified gene: POLE as Green List (high evidence)
Fetal anomalies v1.25 POLE Rebecca Foulger Gene: pole has been classified as Green List (High Evidence).
Fetal anomalies v1.24 POLE Rebecca Foulger Classified gene: POLE as Amber List (moderate evidence)
Fetal anomalies v1.24 POLE Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Multiple cases of IUGR from 2 papers (PMID:25948378 and PMID:30503519). Phenotype relevant to panel, and sufficient evidence to support causation.
Fetal anomalies v1.24 POLE Rebecca Foulger Gene: pole has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.23 POLE Rebecca Foulger Publications for gene: POLE were set to 23230001
Fetal anomalies v1.22 POLE Rebecca Foulger commented on gene: POLE: PMID:25948378 (Thiffault et al., 2015) report a girl homozygous for a splice variant in POLE1 (c.4444 + 3A > G). Fetal anomalies on the ultrasound included intrauterine growth restriction, short long bones, suspected skull abnormalities nad oligohydamnios.
Fetal anomalies v1.22 POLE Rebecca Foulger Phenotypes for gene: POLE were changed from IUGR; severe growth failure of prenatal onset to IUGR; severe growth failure of prenatal onset; FILS syndrome, 615139; facial dysmorphism, immunodeficiency, livedo, and short stature (FILS)
Fetal anomalies v1.21 POLE Rebecca Foulger Classified gene: POLE as Amber List (moderate evidence)
Fetal anomalies v1.21 POLE Rebecca Foulger Added comment: Comment on list classification: Added as Amber awaiting Clinical Review.
Fetal anomalies v1.21 POLE Rebecca Foulger Gene: pole has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.20 POLE Rebecca Foulger gene: POLE was added
gene: POLE was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to 23230001
Phenotypes for gene: POLE were set to IUGR; severe growth failure of prenatal onset
Added comment: Added to panel based on prenatal phenotype reported in PMID:30503519: (Logan et al., 2018) report biallelic variants in POLE in 15 indivs from 12 families (mix of countries). All subjects shared the same intronic variant (c.1686+32C>G) as part of a common haplotype, in combination with different loss-of-function variants in trans. Phenotypically, affected individuals all had IUGR and severe growth failure of prenatal onset.
Sources: Literature
Fetal anomalies v1.19 MYL9 Rebecca Foulger Publications for gene: MYL9 were set to
Fetal anomalies v1.18 MYL9 Rebecca Foulger Classified gene: MYL9 as Red List (low evidence)
Fetal anomalies v1.18 MYL9 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red to match review by Rhiannon Mellis (GOSH).
Fetal anomalies v1.18 MYL9 Rebecca Foulger Gene: myl9 has been classified as Red List (Low Evidence).
Fetal anomalies v1.17 LMOD1 Rebecca Foulger Classified gene: LMOD1 as Red List (low evidence)
Fetal anomalies v1.17 LMOD1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red to match review by Rhiannon Mellis (GOSH).
Fetal anomalies v1.17 LMOD1 Rebecca Foulger Gene: lmod1 has been classified as Red List (Low Evidence).
Fetal anomalies v1.16 MYH11 Rebecca Foulger Publications for gene: MYH11 were set to
Fetal anomalies v1.15 MYH11 Rebecca Foulger Classified gene: MYH11 as Green List (high evidence)
Fetal anomalies v1.15 MYH11 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green to match review by Rhiannon Mellis (GOSH).
Fetal anomalies v1.15 MYH11 Rebecca Foulger Gene: myh11 has been classified as Green List (High Evidence).
Fetal anomalies v1.14 MYH11 Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to BIALLELIC to match papers: compound het and homozygous MYH11 variants associated with MMIH.
Fetal anomalies v1.14 MYH11 Rebecca Foulger Mode of inheritance for gene: MYH11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.13 MYLK Rebecca Foulger Publications for gene: MYLK were set to
Fetal anomalies v1.12 MYLK Rebecca Foulger Phenotypes for gene: MYLK were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome; MMIH
Fetal anomalies v1.11 MYL9 Rhiannon Mellis reviewed gene: MYL9: Rating: RED; Mode of pathogenicity: ; Publications: 29453416; Phenotypes: Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH); Mode of inheritance:
Fetal anomalies v1.11 LMOD1 Rhiannon Mellis reviewed gene: LMOD1: Rating: RED; Mode of pathogenicity: ; Publications: 28292896; Phenotypes: Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH); Mode of inheritance:
Fetal anomalies v1.11 MYH11 Rhiannon Mellis reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: ; Publications: 25407000, 29575632, 31427716; Phenotypes: Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH); Mode of inheritance:
Fetal anomalies v1.11 MYLK Rhiannon Mellis reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: ; Publications: 28602422; Phenotypes: Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH); Mode of inheritance:
Fetal anomalies v1.10 MYL9 Rebecca Foulger gene: MYL9 was added
gene: MYL9 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYL9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYL9 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Added comment: Added to panel as suggested by Rhiannon Mellis (GOSH).
Sources: Expert list
Fetal anomalies v1.9 LMOD1 Rebecca Foulger gene: LMOD1 was added
gene: LMOD1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: LMOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMOD1 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Added comment: Added to panel as suggested by Rhiannon Mellis (GOSH).
Sources: Expert list
Fetal anomalies v1.8 MYH11 Rebecca Foulger gene: MYH11 was added
gene: MYH11 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH11 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Added comment: Added to panel as suggested by Rhiannon Mellis (GOSH).
Sources: Expert list
Fetal anomalies v1.7 PAICS Zornitza Stark gene: PAICS was added
gene: PAICS was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAICS were set to 31600779
Phenotypes for gene: PAICS were set to Polyhydramnios; multiple congenital abnormalities
Review for gene: PAICS was set to RED
Added comment: Two sibs from single family reported with homozygous missense variant. Functional data to demonstrate effect on protein function.
Sources: Literature
Fetal anomalies v1.7 CEP55 Rebecca Foulger Classified gene: CEP55 as Green List (high evidence)
Fetal anomalies v1.7 CEP55 Rebecca Foulger Gene: cep55 has been classified as Green List (High Evidence).
Fetal anomalies v1.6 CEP55 Rebecca Foulger Classified gene: CEP55 as Red List (low evidence)
Fetal anomalies v1.6 CEP55 Rebecca Foulger Added comment: Comment on list classification: Added gene to panel as Green: MARCH phenotype is appropriate for fetal panel, and 3 unrelated fetal cases reported in literature. Not yet associated with a disorder in Gene2Phenotype.
Fetal anomalies v1.6 CEP55 Rebecca Foulger Gene: cep55 has been classified as Red List (Low Evidence).
Fetal anomalies v1.5 CEP55 Rebecca Foulger Publications for gene: CEP55 were set to 28264986; 28295209
Fetal anomalies v1.4 CEP55 Rebecca Foulger changed review comment from: PMID:30622327 (Rawlins et al., 2019) report a novel homozygous founder frameshift variant(p.Ile172Asnfs*17) in CEP55 in 2 siblings presenting with a lethal fetal disorder including cystic dysplastic kidneys. The variant is present at low frequency in the Amish community.; to: PMID:30622327 (Rawlins et al., 2019) report a novel homozygous founder frameshift variant (p.Ile172Asnfs*17) in CEP55 in 2 siblings presenting with a lethal fetal disorder including cystic dysplastic kidneys. The variant is present at low frequency in the Amish community.
Fetal anomalies v1.4 CEP55 Rebecca Foulger commented on gene: CEP55: PMID:30622327 (Rawlins et al., 2019) report a novel homozygous founder frameshift variant(p.Ile172Asnfs*17) in CEP55 in 2 siblings presenting with a lethal fetal disorder including cystic dysplastic kidneys. The variant is present at low frequency in the Amish community.
Fetal anomalies v1.4 CEP55 Rebecca Foulger commented on gene: CEP55: PMID:28295209. Bondeson et al report a Swedish couple with 2 affected male fetuses homozygous for CEP55 p.Arg86*. Although the phenotype differed between fetuses, both exhibited kidney phenotypes (including renal dysplaisa). Segregation analysis supported the gene:disease association, and Haplotype analysis suggested a founder effect.
Fetal anomalies v1.4 CEP55 Rebecca Foulger commented on gene: CEP55: PMID:28264986: Frosk et al, 2017 report a Dutch-German Mennonite family with 3 affected fetuses homozygous for CEP55 nonsense variant p.Ser425* presenting with MIM:236500 including renal dysplasia.
Fetal anomalies v1.4 CEP55 Rebecca Foulger gene: CEP55 was added
gene: CEP55 was added to Fetal anomalies. Sources: Other
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 28264986; 28295209
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; lethal CEP55-related syndromes
Added comment: Added to Fetal anomalies panel on advice from Helen Brittain, Genomics England Clinical Team. MARCH phenotype is appropriate for this panel.
Sources: Other
Fetal anomalies v1.3 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.3 SMG9 Zornitza Stark reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27018474, 31390136; Phenotypes: Heart and brain malformation syndrome, MIM# 616920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.3 Rebecca Foulger Panel version has been signed off
Fetal anomalies v1.0 AHCY Zornitza Stark gene: AHCY was added
gene: AHCY was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHCY were set to 30121674; 20852937
Phenotypes for gene: AHCY were set to S-adenosylhomocysteine hydrolase deficiency
Review for gene: AHCY was set to AMBER
Added comment: Please note recent additional report of this condition presenting prenatally with hydrops.
Sources: Expert list
Fetal anomalies v1.0 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26453364, 31420886; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v1.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP1A2 were set to 30690204
Phenotypes for gene: ATP1A2 were set to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Review for gene: ATP1A2 was set to AMBER
gene: ATP1A2 was marked as current diagnostic
Added comment: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.
Sources: Expert list
Fetal anomalies v1.0 PSAT1 Zornitza Stark reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152457; Phenotypes: Neu-Laxova syndrome 2, MIM# 616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v1.0 Rebecca Foulger promoted panel to version 1.0
Fetal anomalies v0.375 Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Fetal anomalies v0.374 SHOX Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia).
Fetal anomalies v0.374 SHOX Eleanor Williams Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.373 KMT2E Rebecca Foulger Phenotypes for gene: KMT2E were changed from INTELLECTUAL DISABILITY to INTELLECTUAL DISABILITY; O'Donnell-Luria-Rodan syndrome, 618512
Fetal anomalies v0.372 CNOT1 Rebecca Foulger Phenotypes for gene: CNOT1 were changed from pancreatic agenesis and holoprosencephaly syndrome to Holoprosencephaly 12, with or without pancreatic agenesis, 618500
Fetal anomalies v0.371 ADNP Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Can have congenital heart defects.
Fetal anomalies v0.371 BICD2 Rebecca Foulger Classified gene: BICD2 as Green List (high evidence)
Fetal anomalies v0.371 BICD2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green based on external review highlighting literature evidence of fetal phenotypes, and agreement from Lyn Chitty and Rhiannon Mellis (Great Ormond Street Hospital).
Fetal anomalies v0.371 BICD2 Rebecca Foulger Gene: bicd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.370 BICD2 Rebecca Foulger Publications for gene: BICD2 were set to 27751653; 29274205; 28635954
Fetal anomalies v0.369 BICD2 Rebecca Foulger Phenotypes for gene: BICD2 were changed from PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); reduced fetal movements; hydrops fetalis to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); reduced fetal movements; hydrops fetalis; Pterygium
Fetal anomalies v0.368 BICD2 Rebecca Foulger Phenotypes for gene: BICD2 were changed from PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); reduced fetal movements; hydrops fetalis
Fetal anomalies v0.367 BICD2 Rebecca Foulger commented on gene: BICD2: PMID:28635954 (Storbeck et al., 2017) describe 3 individuals of independent families with severe severe arthrogryposis multiplex congenita (AMC), respiratory insufficiency, and early lethality caused by three BICD2 variants (p.Arg694Cys, p.Gln194Arg and p.Cys542Trp, 2 of which are proven to be de novo). They also describe an asymptomatic women with subclinical findings with the previously described p.(Thr703Met) variant.
Fetal anomalies v0.367 BICD2 Rebecca Foulger commented on gene: BICD2: PMID:29274205 (Ahmed et al., 2018) report a stillborn female fetus (case 4) with pterygia and arthrogryposis with a heterozygous likely-pathogenic variant in BICD2. Phenotypes included an abnormal fetal position with fixed limbs, hydrops fetalis and polyhydramnios. A heterozygous p.Asn700Lys variant in BICD2 was revealed. However, compound het variants of unknown significance in AGRN were also identified, so the authors can not be certain that BICD2 is the causative variant.
Fetal anomalies v0.367 BICD2 Rebecca Foulger commented on gene: BICD2: PMID:27751653 (Ravenscroft et al., 2016) report two unrelated probands (a German male and a boy from a Welsh mother and NZ/European father) that presented in utero with reduced fetal movement. Both cases had arthrogryposis multiplex congenita (AMC) and hypotonia diagnosed at birth. The same missense de novo variant in BICD2 (p.Arg694Cys) was present in both probands.
Fetal anomalies v0.367 BICD2 Rebecca Foulger commented on gene: BICD2: OMIM Clinical Synopsis for MIM:618291 now mentions onset in Utero, including fractures in utero and decreased fetal movements, as noted by Rhiannon Mellis.
Fetal anomalies v0.367 BICD2 Rebecca Foulger Mode of pathogenicity for gene: BICD2 was changed from to Other
Fetal anomalies v0.366 BICD2 Rebecca Foulger Phenotypes for gene: BICD2 were changed from PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
Fetal anomalies v0.365 BICD2 Rebecca Foulger Publications for gene: BICD2 were set to
Fetal anomalies v0.363 Rebecca Foulger List of related panels changed from R21 to R21; Fetal anomalies with a likely genetic cause
Fetal anomalies v0.362 KLF1 Rebecca Foulger Phenotypes for gene: KLF1 were changed from ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; Hydrops Fetalis
Fetal anomalies v0.361 KLF1 Rebecca Foulger Publications for gene: KLF1 were set to
Fetal anomalies v0.360 KLF1 Rebecca Foulger Mode of pathogenicity for gene: KLF1 was changed from to Other
Fetal anomalies v0.359 KLF1 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'Monoallelic' to 'BOTH AD+AR' (after agreement from Rhiannon Mellis, GOSH), to match the MOI on the Fetal hydrops v.1.16 panel. The expanded MOI is based on compound heterozygous cases in PMID:25724378 and PMID:28361594.
Fetal anomalies v0.359 KLF1 Rebecca Foulger Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.358 CRYBB1 Rebecca Foulger Phenotypes for gene: CRYBB1 were changed from CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 to CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3
Fetal anomalies v0.357 CRYBB1 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the 'confirmed' disorder in DDG2P has 'monoallelic' inheritance (and 'probable' rating for the biallelic disorders), have kept the MOI as 'both AD and AR' on the fetal panel so all cataract cases are picked up.
Fetal anomalies v0.357 CRYBB1 Rebecca Foulger Mode of inheritance for gene: CRYBB1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.356 FBN1 Rebecca Foulger Publications for gene: FBN1 were set to
Fetal anomalies v0.355 FBN1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Both AD + AR' to 'MONOALLELIC' only to match current DDG2P Allelic requirement of 'monoallelic' for all confirmed disorders (SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; MARFAN SYNDROME; MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE).
Fetal anomalies v0.355 FBN1 Rebecca Foulger Mode of inheritance for gene: FBN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.354 ALG3 Rebecca Foulger Publications for gene: ALG3 were set to
Fetal anomalies v0.353 LMBR1 Eleanor Williams commented on gene: LMBR1
Fetal anomalies v0.353 SMN1 Rebecca Foulger Publications for gene: SMN1 were set to
Fetal anomalies v0.352 SCO2 Rebecca Foulger commented on gene: SCO2: PMID:18924171 (Verdijk et al, 2008) report the first prenatal diagnosis of a compound heterozygous SCO2 variant in the literature. The sibling died of fatal infantile cardioencephalomyopathy.
Fetal anomalies v0.352 SCO2 Rebecca Foulger Publications for gene: SCO2 were set to
Fetal anomalies v0.351 SIK3 Rebecca Foulger Phenotypes for gene: SIK3 were changed from ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 to Spondyloepimetaphyseal dysplasia, Krakow type, 618162
Fetal anomalies v0.350 SIK3 Rebecca Foulger Classified gene: SIK3 as Green List (high evidence)
Fetal anomalies v0.350 SIK3 Rebecca Foulger Added comment: Comment on list classification: Added SIK3 to panel as a Green gene following communication with Rhiannon Mellis. A mouse model (PMID:22318228) provides additional support: mice show skeletal anomalies (plus dwarfism postnatally).
Fetal anomalies v0.350 SIK3 Rebecca Foulger Gene: sik3 has been classified as Green List (High Evidence).
Fetal anomalies v0.349 SIK3 Rebecca Foulger gene: SIK3 was added
gene: SIK3 was added to Fetal anomalies. Sources: Other
Mode of inheritance for gene: SIK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIK3 were set to 30232230; 22318228
Phenotypes for gene: SIK3 were set to ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162
Added comment: Added to panel as suggested by Rhinannon Mellis. One pair of siblings with spondyloepimetaphyseal dysplasia reported in PMID:30232230 (Csukasi et al., 2018) plus one clinical case of suspected skeletal dysplasia prenatally.
Sources: Other
Fetal anomalies v0.348 GLA Rebecca Foulger changed review comment from: Added GLA to panel based on Green rating on Fetal hydrops panel V1.16, following email communication from Dominic McMullan (West Midlands, Oxford and Wessex GLH).
Sources: Other; to: Added GLA to panel as a Green gene based on Green rating on Fetal hydrops panel V1.16, following email communication from Dominic McMullan (West Midlands, Oxford and Wessex GLH).
Sources: Other
Fetal anomalies v0.348 GLA Rebecca Foulger Classified gene: GLA as Green List (high evidence)
Fetal anomalies v0.348 GLA Rebecca Foulger Gene: gla has been classified as Green List (High Evidence).
Fetal anomalies v0.347 GLA Rebecca Foulger gene: GLA was added
gene: GLA was added to Fetal anomalies. Sources: Other
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GLA were set to Fabry disease, 301500
Added comment: Added GLA to panel based on Green rating on Fetal hydrops panel V1.16, following email communication from Dominic McMullan (West Midlands, Oxford and Wessex GLH).
Sources: Other
Fetal anomalies v0.346 BICD2 Suzanne Drury reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27751653, 29274205, 28635954; Phenotypes: HP:0002804, HP:0001059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.346 AMER1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from Monoallelic to X-linked dominant to match other PanelApp panels. Although the Gene2Phenotype inheritance is currently listed as monoallelic, AMER1 is an X-linked gene.
Fetal anomalies v0.346 AMER1 Rebecca Foulger Mode of inheritance for gene: AMER1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.345 FAM58A Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from MONOALLELIC to X-linked dominant. Although monoallelic inheritance is currently listed in DDG2P for STAR SYNDROME, FAM58A (CCNQ) is an X-linked gene.
Fetal anomalies v0.345 FAM58A Rebecca Foulger Mode of inheritance for gene: FAM58A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.344 NMNAT2 Rebecca Foulger Classified gene: NMNAT2 as Amber List (moderate evidence)
Fetal anomalies v0.344 NMNAT2 Rebecca Foulger Added comment: Comment on list classification: NMNAT2 was added to the Fetal anomalies panel and rated Green by Michael Coleman (University of Cambridge). Not yet associated with a disorder in OMIM or Gene2Phenotype. Currently 2 fetal siblings (1 case) in PMID:31136762 and a mouse model. Rated as Amber awaiting clinical feedback and further cases.
Fetal anomalies v0.344 NMNAT2 Rebecca Foulger Gene: nmnat2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.343 NMNAT2 Rebecca Foulger commented on gene: NMNAT2: PMID:31132363, Huppke et al., 2019 report a homozygous missense variant (c.281C>T (T94M) in NMNAT2 in 2 siblings with childhood onset polyneuropathy with erythromelalgia: symptoms were first seen age 4.
Fetal anomalies v0.343 NMNAT2 Rebecca Foulger commented on gene: NMNAT2
Fetal anomalies v0.343 NMNAT2 Rebecca Foulger Publications for gene: NMNAT2 were set to PMID: 31136762
Fetal anomalies v0.342 ANAPC1 Rebecca Foulger commented on gene: ANAPC1: Added ANAPC1 to the Fetal anomalies panel and rated Green on approval from Anna de Burca and Richard Scott (Genomics England Clinical team). Note yet associated with a disorder in OMIM but evidence comes from PMID:31303264 (Ajeawung et al., 2019) where they report 10 individuals (7 families including 3 families of Amish ancestry) with Rothmund-Thomson Syndrome Type 1 and biallelic variants in ANAPC1. Phenotype includes skeletal abnormalities and short stature. All individuals carried an intronic splicing variant (NM_022662.3:c.2705−198C>T): in 3 Amish families plus individual 4, this intronic variant was found in a homozygous state. In the remaining families, the intronic variant was found in trans with one of three other LOF variants. Therefore sufficient cases to support a Green rating plus fetally-relevant phenotype.
Fetal anomalies v0.342 ANAPC1 Rebecca Foulger reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.342 ANAPC1 Rebecca Foulger gene: ANAPC1 was added
gene: ANAPC1 was added to Fetal anomalies. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund-Thomson Syndrome Type 1
Fetal anomalies v0.341 NMNAT2 Michael Coleman gene: NMNAT2 was added
gene: NMNAT2 was added to Fetal anomalies. Sources: Research
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to PMID: 31136762
Phenotypes for gene: NMNAT2 were set to hydrops fetalis; cystic hygroma; bilateral hypoplastic lungs; hydrocephalus; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; flexion contractures of all extremities; micrognathia; cleft palate; hydropic placenta
Penetrance for gene: NMNAT2 were set to Complete
Review for gene: NMNAT2 was set to GREEN
Added comment: Closely related phenotype in homozygous null mouse (PMID 23946398)
Sources: Research
Fetal anomalies v0.341 GJB2 Rebecca Foulger Publications for gene: GJB2 were set to 23035047
Fetal anomalies v0.340 GJB2 Rebecca Foulger Classified gene: GJB2 as Red List (low evidence)
Fetal anomalies v0.340 GJB2 Rebecca Foulger Added comment: Comment on list classification: Demoted GJB2 from Green to Red as requested by Anna de Burca. See Anna's review (9 September 2019)- the digit phenotype is unlikely to be detected on fetal ultrasound.
Fetal anomalies v0.340 GJB2 Rebecca Foulger Gene: gjb2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.339 GJB2 Anna de Burca reviewed gene: GJB2: Rating: ; Mode of pathogenicity: None; Publications: 24346921; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.339 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Fetal anomalies v0.339 ARSE Louise Daugherty commented on gene: ARSE
Fetal anomalies v0.339 H3F3A Louise Daugherty Tag new-gene-name tag was added to gene: H3F3A.
Fetal anomalies v0.339 H3F3A Louise Daugherty commented on gene: H3F3A
Fetal anomalies v0.339 HIST1H4C Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H4C.
Fetal anomalies v0.339 HIST1H4C Louise Daugherty commented on gene: HIST1H4C
Fetal anomalies v0.339 HIST1H1E Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H1E.
Fetal anomalies v0.339 HIST1H1E Louise Daugherty commented on gene: HIST1H1E
Fetal anomalies v0.339 KIF1BP Louise Daugherty Tag new-gene-name tag was added to gene: KIF1BP.
Fetal anomalies v0.339 KIF1BP Louise Daugherty commented on gene: KIF1BP
Fetal anomalies v0.339 IARS Louise Daugherty commented on gene: IARS
Fetal anomalies v0.339 QARS Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
Fetal anomalies v0.339 QARS Louise Daugherty commented on gene: QARS
Fetal anomalies v0.339 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
Fetal anomalies v0.339 KARS Louise Daugherty commented on gene: KARS
Fetal anomalies v0.339 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Fetal anomalies v0.339 AARS Louise Daugherty commented on gene: AARS
Fetal anomalies v0.339 DARS Louise Daugherty Deleted their comment
Fetal anomalies v0.339 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Fetal anomalies v0.339 DARS Louise Daugherty commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1
Fetal anomalies v0.339 DARS Louise Daugherty commented on gene: DARS
Fetal anomalies v0.339 SLC35A2 Rebecca Foulger Mode of inheritance for gene: SLC35A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.338 SLC35A2 Rebecca Foulger Added comment: Comment on mode of inheritance: Gene2Phenotype currently records a 'monoallelic' MOI for SLC35A2 for 'CONGENITAL DISORDER OF GLYCOSYLATION'. Changed MOI from 'monoallelic' to 'XLD' because SLC35A2 is on the X-chromosome.
Fetal anomalies v0.338 SLC35A2 Rebecca Foulger Mode of inheritance for gene: SLC35A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.337 MITF Rebecca Foulger changed review comment from: Kept rating as Amber on advice from Anna de Burca (Genomics England Clinical Team): fetally releavant phenotype but insufficient evidence for Green rating.; to: Kept rating as Amber on advice from Anna de Burca (Genomics England Clinical Team): fetally relevant phenotype but insufficient evidence for Green rating.
Fetal anomalies v0.337 TGFB1 Rebecca Foulger edited their review of gene: TGFB1: Changed rating: RED
Fetal anomalies v0.337 TERT Rebecca Foulger edited their review of gene: TERT: Changed rating: RED
Fetal anomalies v0.337 SASS6 Rebecca Foulger Classified gene: SASS6 as Amber List (moderate evidence)
Fetal anomalies v0.337 SASS6 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to match 'possible' Disease confidence rating in PAGE Additional genes list. Note that SASS6 is not currently associated with a disorder in Gene2Phenotype. Associated with OMIM disorder: ?Microcephaly 14, primary, autosomal recessive, 616402' based on 1 reported family.
Fetal anomalies v0.337 SASS6 Rebecca Foulger Gene: sass6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.336 PDHB Rebecca Foulger commented on gene: PDHB
Fetal anomalies v0.336 PDHB Rebecca Foulger Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency to Pyruvate dehydrogenase E1-beta deficiency, 614111
Fetal anomalies v0.335 AUTS2 Rebecca Foulger edited their review of gene: AUTS2: Changed rating: RED
Fetal anomalies v0.335 Rebecca Foulger List of related panels changed from to R21
Fetal anomalies v0.334 PKD1 Rebecca Foulger Mode of inheritance for gene: PKD1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.333 SMARCAL1 Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SMARCAL1 gene rating from Green to Red.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: IUGR can present but is not severe. Action taken: Demoted SMARCAL1 gene rating from Green to Red.
Fetal anomalies v0.333 MFSD8 Rebecca Foulger commented on gene: MFSD8: Kept rating of MFSD8 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Fetal anomalies v0.333 VPS13B Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: As RM notes: Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: RM notes that Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.333 VPS13B Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: As RM notes: Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.333 VPS13B Rebecca Foulger Publications for gene: VPS13B were set to
Fetal anomalies v0.332 VPS13B Rebecca Foulger commented on gene: VPS13B: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.332 GALC Rebecca Foulger Classified gene: GALC as Green List (high evidence)
Fetal anomalies v0.332 GALC Rebecca Foulger Added comment: Comment on list classification: Promoted GALC from Red to Green based on review by Anna de Burca, and agreement from Rhiannon Mellis (GOSH) and Richard Scott (Genomics England Clinical team).
Fetal anomalies v0.332 GALC Rebecca Foulger Gene: galc has been classified as Green List (High Evidence).
Fetal anomalies v0.331 KCTD7 Rebecca Foulger commented on gene: KCTD7: Kept rating of KCTD7 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Fetal anomalies v0.331 CLN8 Rebecca Foulger commented on gene: CLN8: Kept rating of CLN8 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Fetal anomalies v0.331 CLN5 Rebecca Foulger commented on gene: CLN5: Kept rating of CLN5 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Fetal anomalies v0.331 CLN3 Rebecca Foulger commented on gene: CLN3: Kept rating of CLN3 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Fetal anomalies v0.331 TPP1 Rebecca Foulger commented on gene: TPP1: Kept rating of TPP1 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Fetal anomalies v0.331 PPT1 Rebecca Foulger commented on gene: PPT1: Kept rating of PPT1 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Fetal anomalies v0.331 CTSD Rebecca Foulger commented on gene: CTSD: Kept rating of CTSD as Green, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Fetal anomalies v0.331 PDHA1 Rebecca Foulger Phenotypes for gene: PDHA1 were changed from X-LINKED LEIGH SYNDROME; PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; INTELLECTUAL DISABILTIY to Pyruvate dehydrogenase E1-alpha deficiency; X-LINKED LEIGH SYNDROME; PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; INTELLECTUAL DISABILTIY
Fetal anomalies v0.330 PDHA1 Rebecca Foulger Publications for gene: PDHA1 were set to
Fetal anomalies v0.329 PDHA1 Rebecca Foulger commented on gene: PDHA1: Kept rating of PDHA1 as Green based on Green review by Anna de Burca, and agreement with Richard Scott from the Genomics England Clinical team.
Fetal anomalies v0.329 PTEN Rebecca Foulger changed review comment from: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: No structural features. Demote from Green to Red. ; to: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Hydrocephalus is very unusual, and PTEN is on the Hydrocephalus panel because of the macrocephaly phenotype. Demote from Green to Red.
Fetal anomalies v0.329 SLC4A4 Rebecca Foulger Publications for gene: SLC4A4 were set to
Fetal anomalies v0.328 SLC4A4 Rebecca Foulger commented on gene: SLC4A4: SLC4A4 was re-reviewed by Anna de Burca (Genomics England clinical team) to determine if patients presented with cataracts. Anna notes that there aren’t very many published cases and not all had cataracts. Of those that did, PMID:16636648 cataracts were definitely not congenital and in PMID:11131345 they were only picked up at 4 years so probably not congenital either. Therefore appropriate to remain Red.
Fetal anomalies v0.328 VDR Rebecca Foulger Classified gene: VDR as Amber List (moderate evidence)
Fetal anomalies v0.328 VDR Rebecca Foulger Added comment: Comment on list classification: Demoted rating from Green to Amber following discussions with Anna de Burca (Genomics England Clinical Team) and Rhiannon Mellis (Great Ormond Street). As Anna and Rhiannon note: rickets due to VDR could theoretically present in a fetus of a homozygous mother, as Melita suggested, but it would actually be caused by the mother’s vitamin D status irrespective of the baby’s genotype. Therefore, rather than performing a fetal exome, it would be better investigating the mother, who would have clinical signs and biochemical abnormalities in her own right.
Fetal anomalies v0.328 VDR Rebecca Foulger Gene: vdr has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.327 VDR Rebecca Foulger changed review comment from: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita reports that difficult to determine if skeletal features present antenatally as often mother has vitamin D deficiency too, so on balance probably should be Green.; to: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita reports that difficult to determine if skeletal features present antenatally as often mother has vitamin D deficiency too.
Fetal anomalies v0.327 IARS Sarah Leigh Tag new-gene-name tag was added to gene: IARS.
Fetal anomalies v0.327 IARS Sarah Leigh commented on gene: IARS
Fetal anomalies v0.327 RAC1 Rebecca Foulger Publications for gene: RAC1 were set to 30712878
Fetal anomalies v0.326 TRPV6 Rebecca Foulger Classified gene: TRPV6 as Green List (high evidence)
Fetal anomalies v0.326 TRPV6 Rebecca Foulger Added comment: Comment on list classification: Added to panel as Amber based on 'probable' Disease confidence in DDG2P for Transient Neonatal Hyperparathyroidism. Upgraded to Green on advice from Anna de Burca (Genomics England Clinical team) and Rhiannon Mellis (Great Ormond Street Hospital). They note that anomalies may be detected on third trimester scans but actually have a better prognosis in the long term so important diagnostically, and a differential diagnosis for Osteogenesis imperfecta. Plus Helen Brittain (Genomics England Clinical team) has reviewed on TRPV6 on the Skeletal dysplasia panel and notes: "6 unrelated children with skeletal abnormalities detected in the third trimester of pregnancy, who presented at birth with elevated serum PTH and alkaline phosphatase activity, with normal or low ionized calcium. Skeletal anomalies included generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones". Therefore sufficient cases and relevant phenotype for inclusion on the Fetal anomalies panel.
Fetal anomalies v0.326 TRPV6 Rebecca Foulger Gene: trpv6 has been classified as Green List (High Evidence).
Fetal anomalies v0.325 TRPV6 Rebecca Foulger Classified gene: TRPV6 as Amber List (moderate evidence)
Fetal anomalies v0.325 TRPV6 Rebecca Foulger Gene: trpv6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.324 TRPV6 Rebecca Foulger gene: TRPV6 was added
gene: TRPV6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Transient Neonatal Hyperparathyroidism; Hyperparathyroidism, transient neonatal, 618188
Review for gene: TRPV6 was set to AMBER
Added comment: New gene:disorder association added to DDG2P in March 2019: Transient Neonatal Hyperparathyroidism. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
Sources: Literature
Fetal anomalies v0.323 COQ4 Anna de Burca Classified gene: COQ4 as Green List (high evidence)
Fetal anomalies v0.323 COQ4 Anna de Burca Gene: coq4 has been classified as Green List (High Evidence).
Fetal anomalies v0.322 COQ4 Anna de Burca Classified gene: COQ4 as Green List (high evidence)
Fetal anomalies v0.322 COQ4 Anna de Burca Gene: coq4 has been classified as Green List (High Evidence).
Fetal anomalies v0.321 SETD5 Anna de Burca Classified gene: SETD5 as Green List (high evidence)
Fetal anomalies v0.321 SETD5 Anna de Burca Added comment: Comment on list classification: Promoted to Green based on July 19th review.
Fetal anomalies v0.321 SETD5 Anna de Burca Gene: setd5 has been classified as Green List (High Evidence).
Fetal anomalies v0.320 VDR Rebecca Foulger commented on gene: VDR: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita reports that difficult to determine if skeletal features present antenatally as often mother has vitamin D deficiency too, so on balance probably should be Green.
Fetal anomalies v0.320 TERT Rebecca Foulger Classified gene: TERT as Red List (low evidence)
Fetal anomalies v0.320 TERT Rebecca Foulger Gene: tert has been classified as Red List (Low Evidence).
Fetal anomalies v0.319 TERT Rebecca Foulger commented on gene: TERT: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita couldn't see any reason for inclusion on this panel, so have demoted rating from Green to Red.
Fetal anomalies v0.319 TGFB1 Rebecca Foulger Classified gene: TGFB1 as Red List (low evidence)
Fetal anomalies v0.319 TGFB1 Rebecca Foulger Gene: tgfb1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.318 TGFB1 Rebecca Foulger commented on gene: TGFB1: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita said seemed unlikely to present in a fetus so demoted rating from Green to Red.
Fetal anomalies v0.318 TUBB2A Rebecca Foulger edited their review of gene: TUBB2A: Changed rating: GREEN
Fetal anomalies v0.318 SOX9 Rebecca Foulger edited their review of gene: SOX9: Changed rating: GREEN
Fetal anomalies v0.318 ROBO1 Rebecca Foulger edited their review of gene: ROBO1: Changed rating: GREEN
Fetal anomalies v0.318 RIT1 Rebecca Foulger edited their review of gene: RIT1: Changed rating: GREEN
Fetal anomalies v0.318 RIPK4 Rebecca Foulger edited their review of gene: RIPK4: Changed rating: GREEN
Fetal anomalies v0.318 PTPN11 Rebecca Foulger edited their review of gene: PTPN11: Changed rating: GREEN
Fetal anomalies v0.318 POMK Rebecca Foulger edited their review of gene: POMK: Changed rating: GREEN
Fetal anomalies v0.318 PIK3R2 Rebecca Foulger edited their review of gene: PIK3R2: Changed rating: GREEN; Changed phenotypes: Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias
Fetal anomalies v0.318 PIK3CA Rebecca Foulger edited their review of gene: PIK3CA: Changed rating: GREEN
Fetal anomalies v0.318 L1CAM Rebecca Foulger edited their review of gene: L1CAM: Changed rating: GREEN
Fetal anomalies v0.318 KIAA1109 Rebecca Foulger edited their review of gene: KIAA1109: Changed rating: GREEN
Fetal anomalies v0.318 IARS Rebecca Foulger edited their review of gene: IARS: Changed rating: GREEN
Fetal anomalies v0.318 HRAS Rebecca Foulger edited their review of gene: HRAS: Changed rating: GREEN
Fetal anomalies v0.318 HNRNPK Rebecca Foulger edited their review of gene: HNRNPK: Changed rating: GREEN
Fetal anomalies v0.318 FOXP3 Rebecca Foulger edited their review of gene: FOXP3: Changed rating: GREEN
Fetal anomalies v0.318 FGFR2 Rebecca Foulger edited their review of gene: FGFR2: Changed rating: GREEN
Fetal anomalies v0.318 FANCB Rebecca Foulger edited their review of gene: FANCB: Changed rating: GREEN
Fetal anomalies v0.318 CYP11A1 Rebecca Foulger edited their review of gene: CYP11A1: Changed rating: GREEN
Fetal anomalies v0.318 ARL13B Rebecca Foulger edited their review of gene: ARL13B: Changed rating: GREEN
Fetal anomalies v0.318 AMER1 Rebecca Foulger edited their review of gene: AMER1: Changed rating: GREEN
Fetal anomalies v0.318 ADAMTS17 Rebecca Foulger edited their review of gene: ADAMTS17: Changed rating: GREEN
Fetal anomalies v0.318 BBS4 Rebecca Foulger edited their review of gene: BBS4: Changed rating: GREEN
Fetal anomalies v0.318 MYH10 Rebecca Foulger Added comment: Comment on mode of inheritance: MYH10 is listed in DDG2P with a 'possible' Disease confidence rating and a monoallelic mode of inheritance/allelic requirement. Mutation consequence summary/MOP: loss of function.
Fetal anomalies v0.318 MYH10 Rebecca Foulger Mode of inheritance for gene: MYH10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.317 MYH10 Rebecca Foulger Added comment: Comment on phenotypes: Added Prenatal imaging phenotype reported in Petrovski et al., 2018 (PMID:30712878) Table 1.
Fetal anomalies v0.317 MYH10 Rebecca Foulger Phenotypes for gene: MYH10 were changed from MYH10-related Multiple congenital anomalies to MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis
Fetal anomalies v0.316 INTU Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:617925/617926.
Fetal anomalies v0.316 INTU Rebecca Foulger Mode of inheritance for gene: INTU was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.315 FRMD4A Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/homozygous variant identified in Normand et al., 2018 (PMID:30266093) and MIM:616819.
Fetal anomalies v0.315 FRMD4A Rebecca Foulger Mode of inheritance for gene: FRMD4A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.314 EIF2B2 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:2603896.
Fetal anomalies v0.314 EIF2B2 Rebecca Foulger Mode of inheritance for gene: EIF2B2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.313 DOK7 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:254300.
Fetal anomalies v0.313 DOK7 Rebecca Foulger Mode of inheritance for gene: DOK7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.312 NDUFAF5 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:618238.
Fetal anomalies v0.312 NDUFAF5 Rebecca Foulger Mode of inheritance for gene: NDUFAF5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.311 DOK7 Rebecca Foulger changed review comment from: This gene was added to the panel following review by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case. Anna de Burca notes that DOK7 is Green on the Arthrogryposis panel - there seems to be quite variable severity but at least one case of arthrogryposis has been reported, so 2 cases if Normand et al included (doesnt decribe phenotype).; to: This gene was added to the panel following review by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case. Anna de Burca notes that DOK7 is Green on the Arthrogryposis panel - there seems to be quite variable severity but at least one case of arthrogryposis has been reported, so 2 cases if Normand et al included (doesn't describe phenotype).
Fetal anomalies v0.311 GATA2 Rebecca Foulger edited their review of gene: GATA2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Sahar Mansour. Outcome of review: Sahar has seen hydrops in Emberger syndrome - Green.; Changed rating: GREEN
Fetal anomalies v0.311 MSH2 Rebecca Foulger edited their review of gene: MSH2: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED
Fetal anomalies v0.311 MSH6 Rebecca Foulger edited their review of gene: MSH6: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED
Fetal anomalies v0.311 MLH1 Rebecca Foulger edited their review of gene: MLH1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED
Fetal anomalies v0.311 ABCD4 Rebecca Foulger commented on gene: ABCD4: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4). Although ABCD4 (CblJ complementation group) is associated with congenital heart disease in PMID:20301503, the Disease confidence rating in Gene2Phenotype is 'probable' with two compound het cases listed in OMIM. Therefore kept rating as Amber awaiting further evidence.
Fetal anomalies v0.311 PTEN Rebecca Foulger edited their review of gene: PTEN: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: No structural features. Demote from Green to Red. ; Changed rating: RED
Fetal anomalies v0.311 USP18 Rebecca Foulger commented on gene: USP18: Kept rating as Amber on advice from Anna de Burca (Genomics England Clinical Team): fetally releavant phenotype but insufficient evidence for Green rating.
Fetal anomalies v0.311 MITF Rebecca Foulger commented on gene: MITF: Kept rating as Amber on advice from Anna de Burca (Genomics England Clinical Team): fetally releavant phenotype but insufficient evidence for Green rating.
Fetal anomalies v0.311 ANO5 Rebecca Foulger edited their review of gene: ANO5: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Melita Irving. Outcome of review: gnathodiaphyseal dysplasia seemed unlikely to present in a fetus, therefore Red.; Changed rating: RED
Fetal anomalies v0.311 RET Rebecca Foulger edited their review of gene: RET: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Moin Saleem (University of Bristol). Outcome of review: Rate as Green.; Changed rating: GREEN
Fetal anomalies v0.311 ABCC8 Rebecca Foulger edited their review of gene: ABCC8: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Karen Temple. Outcome of review: Growth restriction is less marked but queried whether hyperinsulinaemia might cause features that would be picked up on scan. Rate as Red.; Changed rating: RED
Fetal anomalies v0.311 MRPS22 Rebecca Foulger edited their review of gene: MRPS22: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Yates et al study (PMID:28425981) pulled out a pathogenic variant in MRPS22 in a deceased fetal case with Hydrops, CNS malformations and cardiomyopathy picked up on U/S scan. Additional info from OMIM: A boy with oxidative phosphorylation defect in PMID:21189481 who had microcephaly, dysmorphic features etc at birth. 3 siblings in PMID:17873122. Therefore if include Yates et al, there are 3 cases. ; Changed rating: GREEN; Changed publications: 17873122, 21189481
Fetal anomalies v0.311 SCN2A Rebecca Foulger edited their review of gene: SCN2A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: 2 reports of cortical malformations, one with ventriculomegaly: PMID:31204721,28254201. no reports of arthrogryposis. Plus finding in Petrovski et al., 2019 (PMID:30712878).; Changed rating: GREEN; Changed publications: 31204721, 28254201
Fetal anomalies v0.311 RAC1 Rebecca Foulger edited their review of gene: RAC1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Petrovski et al., 2018 (PMID:30712878) plus additional case: Anna de Burca notes: Petrovski case had Dandy-Walker malformation and IUGR. 2 other reported cases: cerebellar anomalies and 2 different cases in same paper had signficant macrocephaly. Therefore 3 cases with structural brain anomalies if Petrovski included.; Changed rating: GREEN
Fetal anomalies v0.311 MYH10 Rebecca Foulger reviewed gene: MYH10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 NDUFAF5 Rebecca Foulger reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: ; Publications: 18940309, 21620786, 30266093; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 INTU Rebecca Foulger reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: ; Publications: 28289185, 29451301; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 FRMD4A Rebecca Foulger reviewed gene: FRMD4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25388005, 30214071; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 EIF2B2 Rebecca Foulger reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28597716; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 DOK7 Rebecca Foulger reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 ACTA1 Rebecca Foulger edited their review of gene: ACTA1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case: Normand doesn't give any details of the clinical presentation. OMIM says the 'severe form' is associated with arthrogryposis. PMID:2724277 describes brothers with a heterozygous variant who presented antenatally with severe polyhydramnios and reduced fetal movements, postnatally were found to have arthrogryoposis. Parents were second cousins so might have been a missed second variant. PMID:11333380 reports 5 cases with heterozygous variants, some of which were born with severe hypotonia although the only antenatal feature was reduced fetal movements. Rate as Green for AD and AR as evident clinical variability.; Changed rating: GREEN; Changed publications: 2724277, 11333380
Fetal anomalies v0.311 TCTN2 Rebecca Foulger edited their review of gene: TCTN2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019. Outcome of review: Rate Green because of diagnostic finding in PAGE study (PMID:30712880) plus additional case. There are 3 reported unrelated families with Joubert syndrome and 3 with Meckel syndrome (all homozygous variants in consanguineous families: PMIDs 21565611, 25118024, 21462283). PMID:25118024 comments that all cases have cerebellar vermis hypoplasia.; Changed rating: GREEN; Changed publications: 21565611, 25118024 & 21462283
Fetal anomalies v0.311 BCL9L Rebecca Foulger reviewed gene: BCL9L: Rating: AMBER; Mode of pathogenicity: ; Publications: 23035047; Phenotypes: Heterotaxy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.311 BRAT1 Rebecca Foulger edited their review of gene: BRAT1: Added comment: Upgraded from Amber to Green following advice from Anna de Burca (Genomics England clinical team). Probable rating in Gene2Phenotype for 'Rigidity and multifocal seizure syndrome, lethal neonatal' but sufficient cases in OMIM for inclusion. (e.g. Saunders et al., 2012, PMID:23035047). Although the main phenotypes are neurological, there are some structural features in some patients.; Changed rating: GREEN; Changed publications: 23035047
Fetal anomalies v0.311 CNOT1 Rebecca Foulger edited their review of gene: CNOT1: Added comment: Upgraded from Amber to Green following advice from Anna de Burca (Genomics England clinical team) and a Fetal Working Group call on July 19th 2019. Phenotypes are relevant to this panel (holoprosencephaly and pancreatic agenesis), sufficient cases (4/5), although phenotype may be variant-specific.; Changed rating: GREEN
Fetal anomalies v0.311 SBDS Rebecca Foulger edited their review of gene: SBDS: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Shwachman-Diamond syndrome: skeletal defects usually develop within first 2 years but PMID:23254443 reports a case with prenatal onset of short limbs. Therefore Green rating is appropriate.; Changed rating: GREEN; Changed publications: 23254443
Fetal anomalies v0.311 TCF20 Rebecca Foulger edited their review of gene: TCF20: Added comment: As agreed with Anna de Burca (Genomics England Clinical team): Keep TCF20 as Amber: the structural phenotypes are variable (and largely mild). All individuals have ID/DD but the accompanying dysmorphic features are inconsistent, and the authors suggest additional genes may be responsible/modifying- some of the patients had variants in additional genes (or the phenotypes might be very very rare).; Changed publications: 30739909, 30819258
Fetal anomalies v0.311 KMT2E Rebecca Foulger edited their review of gene: KMT2E: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team). Outcome of review: Rate KMT2E as Red.; Changed rating: RED
Fetal anomalies v0.311 DDHD2 Rebecca Foulger edited their review of gene: DDHD2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team). Outcome of review: Rate DDHD2 as Red.; Changed rating: RED
Fetal anomalies v0.311 NAGLU Rebecca Foulger commented on gene: NAGLU: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team) and Kate Tatton-Brown. Outcome of review: Hydrops is not a typical feature in MPS type III, and therefore Amber rating is appropriate.
Fetal anomalies v0.311 MANBA Rebecca Foulger commented on gene: MANBA: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- Single case report of neonatal onset seizures & development of hydrocephalus; most cases present later.
Fetal anomalies v0.311 MAN2B1 Rebecca Foulger edited their review of gene: MAN2B1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Red- not structural phenotype.; Changed rating: RED
Fetal anomalies v0.311 MAN1B1 Rebecca Foulger commented on gene: MAN1B1: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- mild dysmorphic phenotype.
Fetal anomalies v0.311 IDUA Rebecca Foulger edited their review of gene: IDUA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green-Umbilical hernia, may cause hydrops.; Changed rating: GREEN
Fetal anomalies v0.311 GM2A Rebecca Foulger commented on gene: GM2A: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- neurological phenotype.
Fetal anomalies v0.311 GAA Rebecca Foulger edited their review of gene: GAA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green-PMID:28657663 has prenatal onset of cardiomyopathy.; Changed rating: GREEN; Changed publications: 28657663
Fetal anomalies v0.311 FUCA1 Rebecca Foulger commented on gene: FUCA1: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- no reports of presenting fetally.
Fetal anomalies v0.311 SUMF1 Rebecca Foulger edited their review of gene: SUMF1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green- Severe form has IUGR & micrognathia.; Changed rating: GREEN
Fetal anomalies v0.311 SGSH Rebecca Foulger commented on gene: SGSH: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- no reports of presenting fetally.
Fetal anomalies v0.311 TTC19 Rebecca Foulger edited their review of gene: TTC19: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 TMEM70 Rebecca Foulger edited their review of gene: TMEM70: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED; Changed publications: 18953340
Fetal anomalies v0.311 TMEM126B Rebecca Foulger edited their review of gene: TMEM126B: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 TK2 Rebecca Foulger edited their review of gene: TK2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 SURF1 Rebecca Foulger edited their review of gene: SURF1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 SLC25A26 Rebecca Foulger edited their review of gene: SLC25A26: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 SDHAF1 Rebecca Foulger edited their review of gene: SDHAF1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 SDHA Rebecca Foulger edited their review of gene: SDHA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 SCO2 Rebecca Foulger edited their review of gene: SCO2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on the Fetal anomalies panel as a Green gene. Mitochondrial disorder, and PMID:15210538 show early onset cardiomyopathy and two pregnancy losses.; Changed rating: GREEN; Changed publications: 15210538
Fetal anomalies v0.311 SCO1 Rebecca Foulger edited their review of gene: SCO1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 POLG Rebecca Foulger edited their review of gene: POLG: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 PNPT1 Rebecca Foulger edited their review of gene: PNPT1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 PDSS2 Rebecca Foulger edited their review of gene: PDSS2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 PDHX Rebecca Foulger edited their review of gene: PDHX: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 PC Rebecca Foulger edited their review of gene: PC: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NFU1 Rebecca Foulger edited their review of gene: NFU1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFV1 Rebecca Foulger edited their review of gene: NDUFV1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFS8 Rebecca Foulger edited their review of gene: NDUFS8: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFS7 Rebecca Foulger edited their review of gene: NDUFS7: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFS4 Rebecca Foulger edited their review of gene: NDUFS4: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFS1 Rebecca Foulger edited their review of gene: NDUFS1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFA1 Rebecca Foulger edited their review of gene: NDUFA1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 MT-TP Rebecca Foulger edited their review of gene: MT-TP: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 MPV17 Rebecca Foulger edited their review of gene: MPV17: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 LRPPRC Rebecca Foulger edited their review of gene: LRPPRC: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 FARS2 Rebecca Foulger edited their review of gene: FARS2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 DLD Rebecca Foulger edited their review of gene: DLD: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 COX6B1 Rebecca Foulger edited their review of gene: COX6B1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 COX15 Rebecca Foulger edited their review of gene: COX15: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 COX10 Rebecca Foulger edited their review of gene: COX10: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 COQ8A Rebecca Foulger edited their review of gene: COQ8A: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 COQ2 Rebecca Foulger edited their review of gene: COQ2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED; Changed publications: 23816342
Fetal anomalies v0.311 BCS1L Rebecca Foulger edited their review of gene: BCS1L: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on the Fetal anomalies panel as a Green gene. Mitochondrial disorder, and severe IUGR in GRACILE syndrome (MIM: 603358).; Changed rating: GREEN; Changed phenotypes: GRACILE syndrome, 603358
Fetal anomalies v0.311 SLC39A13 Rebecca Foulger commented on gene: SLC39A13: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: spondylodysplastic EDS phenotype. Keep SLC39A13 gene rating as Red.
Fetal anomalies v0.311 SMAD3 Rebecca Foulger edited their review of gene: SMAD3: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include SMAD3 as Green to be consistent with including TGFBR1. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 CYP1B1 Rebecca Foulger edited their review of gene: CYP1B1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although we wouldn't include Peters anomaly alone on the panel, you can get cataracts with Peters anomaly and therefore include PAX6 and CYP1B1 on this basis.; Changed rating: GREEN
Fetal anomalies v0.311 SCN4A Rebecca Foulger edited their review of gene: SCN4A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Green on arthrogryposis panel, and phenotypes include polyhydramnios, arthrogryposis (variable penetrance). Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 DNMT3A Rebecca Foulger edited their review of gene: DNMT3A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: ASD, umbilical hernia, overgrowth. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 NDP Rebecca Foulger edited their review of gene: NDP: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on basis of PMID:30125416 (Prenatal diagnosis of Norrie disease based on ultrasound findings): Dubcus et al., 2018 describe a case of Norrie disease diagnosed based on ocular defects in the fetus on an ultrasound scan at 31+5 weeks gestation, and confirmed by identification of a de novo c.38T>C variant (p.Leu13Pro) in NDP. The authors say that this is the first case in which Norrie disease was diagnosed based on prenatal imaging only.; Changed rating: GREEN; Changed publications: 30125416
Fetal anomalies v0.311 SMPD1 Rebecca Foulger edited their review of gene: SMPD1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Green on the Fetal hydrops panel. Promote to Green on the Fetal anomalies panel. Mentioned in review of causes of Non immune hydrops.; Changed rating: GREEN
Fetal anomalies v0.311 NPHP4 Rebecca Foulger edited their review of gene: NPHP4: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes hyperechoic kidneys. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 DPAGT1 Rebecca Foulger edited their review of gene: DPAGT1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataract, microcephaly, arthrogryposis. Therefore promote DPAGT1 from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 FKTN Rebecca Foulger edited their review of gene: FKTN: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: muscle-eye-brain disease: include FKTN for consistency. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 HGSNAT Rebecca Foulger edited their review of gene: HGSNAT: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team) and Kate Tatton-Brown. Outcome of review: Hydrops is not a typical feature in MPS type III, and therefore Amber rating is appropriate.; Changed rating: AMBER
Fetal anomalies v0.311 PMS2 Rebecca Foulger commented on gene: PMS2: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.
Fetal anomalies v0.311 MMACHC Rebecca Foulger edited their review of gene: MMACHC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4).; Changed rating: GREEN; Changed publications: 20301503
Fetal anomalies v0.311 LMBRD1 Rebecca Foulger edited their review of gene: LMBRD1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4). Plus Anna de Burca notes that in PMID:19136951: 4/12 cases had congenital heart disease.; Changed rating: GREEN; Changed publications: 20301503, 19136951
Fetal anomalies v0.311 MMADHC Rebecca Foulger edited their review of gene: MMADHC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Hydrocephalus- Table 4).; Changed rating: GREEN; Changed publications: 20301503
Fetal anomalies v0.311 HCFC1 Rebecca Foulger edited their review of gene: HCFC1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4).; Changed rating: GREEN; Changed publications: 20301503
Fetal anomalies v0.311 SETD5 Rebecca Foulger edited their review of gene: SETD5: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although the micrognathia associated with SETD5 variants is not severe, there are quite a few reports of congenital heart defects and a few other structural phenotypes including 2 unrelated families with polydactyly. Therefore promote from Red to Green.; Changed rating: GREEN; Changed publications: 28881385, 27375234
Fetal anomalies v0.311 GALC Rebecca Foulger edited their review of gene: GALC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). GALC falls into the early onset leukodystrophy category and should be included as Green on the basis of the possibility that something which could present at 3 months could conceivably present at -3 months.; Changed rating: GREEN
Fetal anomalies v0.311 ROGDI Rebecca Foulger edited their review of gene: ROGDI: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: May include structural features. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 DNMT3B Rebecca Foulger edited their review of gene: DNMT3B: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotypes include micrognathia and microcephaly. Therefore upgrade DNMT3B from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 TUBB4A Rebecca Foulger edited their review of gene: TUBB4A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Infantile onset hypomyelination with atrophy of basal ganglia & cerebellum- promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 FTL Rebecca Foulger edited their review of gene: FTL: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype can include congenital cataracts. Therefore FTL was upgraded from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 GCDH Rebecca Foulger edited their review of gene: GCDH: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Phenotypes include macrocephaly, structural brain- usually present with metabolic crises. Therefore upgrade from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 GALK1 Rebecca Foulger edited their review of gene: GALK1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataracts. Therefore GALK1 was upgraded from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 FH Rebecca Foulger edited their review of gene: FH: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Discussions and outcome of review: FH is biallelic for 'Fumarase deficiency', and monoallelic for 'Leiomyomatosis and renal cell cancer'. Fumarase deficiency can sometimes have prenatal onset: polyhydramnios & brain malformations. Include for biallelic inheritance only to avoid risk of incidental cancer finding. Therefore FH was upgraded from Red to Green.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.311 GALE Rebecca Foulger edited their review of gene: GALE: Added comment: This gene was reviewed at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataracts. Although unclear if cataracts are congenital, include on panel. Therefore GALE was upgraded from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 TBCE Rebecca Foulger edited their review of gene: TBCE: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Promote TBCE from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.311 WRAP53 Rebecca Foulger edited their review of gene: WRAP53: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN
Fetal anomalies v0.311 LAMP2 Rebecca Foulger commented on gene: LAMP2: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Edward Blair (Oxford) confirmed that LAMP2 should remain as Red: cardiomyopathy not detected in utero.
Fetal anomalies v0.311 FOXG1 Rebecca Foulger edited their review of gene: FOXG1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: May include structural features. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 PAX8 Rebecca Foulger edited their review of gene: PAX8: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN
Fetal anomalies v0.311 UROS Rebecca Foulger edited their review of gene: UROS: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: macroglossia, umbilical hernia. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 PAX6 Rebecca Foulger edited their review of gene: PAX6: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although we wouldn't include Peters anomaly alone on the panel, you can get cataracts with Peters anomaly and therefore include PAX6 and CYP1B1 on this basis.; Changed rating: GREEN
Fetal anomalies v0.311 BFSP2 Rebecca Foulger edited their review of gene: BFSP2: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Can be associated with congenital cataract- promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 HDAC4 Rebecca Foulger edited their review of gene: HDAC4: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Keep rating as Red.; Changed publications: 24715439, 23188045
Fetal anomalies v0.311 POLR3B Rebecca Foulger edited their review of gene: POLR3B: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Early childhood onset leukodystrophy- promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 SLC25A38 Rebecca Foulger edited their review of gene: SLC25A38: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN
Fetal anomalies v0.310 MSH2 Rebecca Foulger Source Expert Review Red was added to MSH2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MSH6 Rebecca Foulger Source Expert Review Red was added to MSH6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MLH1 Rebecca Foulger Source Expert Review Red was added to MLH1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 PTEN Rebecca Foulger Source Expert Review Red was added to PTEN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 ANO5 Rebecca Foulger Source Expert Review Red was added to ANO5.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.310 RET Rebecca Foulger Source Expert Review Green was added to RET.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 ABCC8 Rebecca Foulger Source Expert Review Red was added to ABCC8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MRPS22 Rebecca Foulger Source Expert Review Green was added to MRPS22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 SCN2A Rebecca Foulger Source Expert Review Green was added to SCN2A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 RAC1 Rebecca Foulger Source Expert Review Green was added to RAC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 MYH10 Rebecca Foulger gene: MYH10 was added
gene: MYH10 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH10 were set to 30712878
Phenotypes for gene: MYH10 were set to MYH10-related Multiple congenital anomalies
Fetal anomalies v0.310 NDUFAF5 Rebecca Foulger gene: NDUFAF5 was added
gene: NDUFAF5 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF5 were set to 18940309; 30266093; 21620786
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 618238
Fetal anomalies v0.310 INTU Rebecca Foulger gene: INTU was added
gene: INTU was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTU were set to 28289185; 30266093; 29451301
Phenotypes for gene: INTU were set to ?Short-rib thoracic dysplasia 20 with polydactyly, 617925
Fetal anomalies v0.310 FRMD4A Rebecca Foulger gene: FRMD4A was added
gene: FRMD4A was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRMD4A were set to 30266093; 25388005; 30214071
Phenotypes for gene: FRMD4A were set to ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819
Fetal anomalies v0.310 EIF2B2 Rebecca Foulger gene: EIF2B2 was added
gene: EIF2B2 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B2 were set to 30266093; 28597716
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896
Fetal anomalies v0.310 DOK7 Rebecca Foulger gene: DOK7 was added
gene: DOK7 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOK7 were set to 30266093
Phenotypes for gene: DOK7 were set to ?Fetal akinesia deformation sequence 3, 618389; Myasthenic syndrome, congenital, 10, 254300
Fetal anomalies v0.310 ACTA1 Rebecca Foulger Source Expert Review Green was added to ACTA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 TCTN2 Rebecca Foulger Source Expert Review Green was added to TCTN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 BCL9L Rebecca Foulger gene: BCL9L was added
gene: BCL9L was added to Fetal anomalies. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCL9L were set to 23035047
Phenotypes for gene: BCL9L were set to Heterotaxy
Fetal anomalies v0.310 BRAT1 Rebecca Foulger Source Expert Review Green was added to BRAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 CNOT1 Rebecca Foulger Source Expert Review Green was added to CNOT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 SBDS Rebecca Foulger Source Expert Review Green was added to SBDS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 TCF20 Rebecca Foulger Source Expert Review Amber was added to TCF20.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 KMT2E Rebecca Foulger Source Expert Review Red was added to KMT2E.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 DDHD2 Rebecca Foulger Source Expert Review Red was added to DDHD2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NAGLU Rebecca Foulger Source Expert Review Amber was added to NAGLU.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 MANBA Rebecca Foulger Source Expert Review Amber was added to MANBA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 MAN2B1 Rebecca Foulger Source Expert Review Red was added to MAN2B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MAN1B1 Rebecca Foulger Source Expert Review Amber was added to MAN1B1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 GM2A Rebecca Foulger Source Expert Review Amber was added to GM2A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 FUCA1 Rebecca Foulger Source Expert Review Amber was added to FUCA1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 SGSH Rebecca Foulger Source Expert Review Amber was added to SGSH.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 TTC19 Rebecca Foulger Source Expert Review Red was added to TTC19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 TMEM70 Rebecca Foulger Source Expert Review Red was added to TMEM70.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 TMEM126B Rebecca Foulger Source Expert Review Red was added to TMEM126B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 TK2 Rebecca Foulger Source Expert Review Red was added to TK2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 SURF1 Rebecca Foulger Source Expert Review Red was added to SURF1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 SLC25A26 Rebecca Foulger Source Expert Review Red was added to SLC25A26.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 SDHAF1 Rebecca Foulger Source Expert Review Red was added to SDHAF1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 SDHA Rebecca Foulger Source Expert Review Red was added to SDHA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 SCO1 Rebecca Foulger Source Expert Review Red was added to SCO1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 POLG Rebecca Foulger Source Expert Review Red was added to POLG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 PNPT1 Rebecca Foulger Source Expert Review Red was added to PNPT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 PDSS2 Rebecca Foulger Source Expert Review Red was added to PDSS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 PDHX Rebecca Foulger Source Expert Review Red was added to PDHX.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 PC Rebecca Foulger Source Expert Review Red was added to PC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NFU1 Rebecca Foulger Source Expert Review Red was added to NFU1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFV1 Rebecca Foulger Source Expert Review Red was added to NDUFV1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFS8 Rebecca Foulger Source Expert Review Red was added to NDUFS8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFS7 Rebecca Foulger Source Expert Review Red was added to NDUFS7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFS4 Rebecca Foulger Source Expert Review Red was added to NDUFS4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFS1 Rebecca Foulger Source Expert Review Red was added to NDUFS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFA1 Rebecca Foulger Source Expert Review Red was added to NDUFA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MT-TP Rebecca Foulger Source Expert Review Red was added to MT-TP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MPV17 Rebecca Foulger Source Expert Review Red was added to MPV17.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 LRPPRC Rebecca Foulger Source Expert Review Red was added to LRPPRC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 FARS2 Rebecca Foulger Source Expert Review Red was added to FARS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 DLD Rebecca Foulger Source Expert Review Red was added to DLD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 COX6B1 Rebecca Foulger Source Expert Review Red was added to COX6B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 COX15 Rebecca Foulger Source Expert Review Red was added to COX15.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 COX10 Rebecca Foulger Source Expert Review Red was added to COX10.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 COQ8A Rebecca Foulger Source Expert Review Red was added to COQ8A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 COQ2 Rebecca Foulger Source Expert Review Red was added to COQ2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 BCS1L Rebecca Foulger Added phenotypes GRACILE syndrome, 603358 for gene: BCS1L
Fetal anomalies v0.310 SMAD3 Rebecca Foulger Source Expert Review Green was added to SMAD3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 CYP1B1 Rebecca Foulger Source Expert Review Green was added to CYP1B1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 SCN4A Rebecca Foulger Source Expert Review Green was added to SCN4A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 DNMT3A Rebecca Foulger Source Expert Review Green was added to DNMT3A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 NDP Rebecca Foulger Source Expert Review Green was added to NDP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 SMPD1 Rebecca Foulger Source Expert Review Green was added to SMPD1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 NPHP4 Rebecca Foulger Source Expert Review Green was added to NPHP4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 DPAGT1 Rebecca Foulger Source Expert Review Green was added to DPAGT1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 FKTN Rebecca Foulger Source Expert Review Green was added to FKTN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 HGSNAT Rebecca Foulger Source Expert Review Amber was added to HGSNAT.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 MMACHC Rebecca Foulger Source Expert Review Green was added to MMACHC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 LMBRD1 Rebecca Foulger Source Expert Review Green was added to LMBRD1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 MMADHC Rebecca Foulger Source Expert Review Green was added to MMADHC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 HCFC1 Rebecca Foulger Source Expert Review Green was added to HCFC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 ROGDI Rebecca Foulger Source Expert Review Green was added to ROGDI.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 DNMT3B Rebecca Foulger Source Expert Review Green was added to DNMT3B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 TUBB4A Rebecca Foulger Source Expert Review Green was added to TUBB4A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 FTL Rebecca Foulger Source Expert Review Green was added to FTL.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 GCDH Rebecca Foulger Source Expert Review Green was added to GCDH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 GALK1 Rebecca Foulger Source Expert Review Green was added to GALK1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 FH Rebecca Foulger Source Expert Review Green was added to FH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 GALE Rebecca Foulger Source Expert Review Green was added to GALE.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 TBCE Rebecca Foulger Source Expert Review Green was added to TBCE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 WRAP53 Rebecca Foulger Source Expert Review Green was added to WRAP53.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 FOXG1 Rebecca Foulger Source Expert Review Green was added to FOXG1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 PAX8 Rebecca Foulger Source Expert Review Green was added to PAX8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 UROS Rebecca Foulger Source Expert Review Green was added to UROS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 PAX6 Rebecca Foulger Source Expert Review Green was added to PAX6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 BFSP2 Rebecca Foulger Source Expert Review Green was added to BFSP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 POLR3B Rebecca Foulger Source Expert Review Green was added to POLR3B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 SLC25A38 Rebecca Foulger Source Expert Review Green was added to SLC25A38.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.309 ALPL Rebecca Foulger Deleted their comment
Fetal anomalies v0.309 ALPL Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following advice by Anna de Burca (Genomics England clinical team). AD variant reported in Chandler et al (PMID:29595812) for Hypophosphatasia phenotype. OMIM lists AR inheritance for Hypophosphatasia, infantile/Hypophosphatasia, childhood. And AD/AR for Hypophosphatasia, adult and Odontohypophosphatasia.
Fetal anomalies v0.309 ALPL Rebecca Foulger Mode of inheritance for gene: ALPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.308 ALPL Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following advice by Anna de Burca (Genomics England clinical team). AD variant reported in Chandler et al (PMID:29595812) for Hypophosphatasia phenotype. OMIM lists AR inheritance for Hypophosphatasia, infantile/Hypophosphatasia, childhood. And AD/AR for Hypophosphatasia, adult and Odontohypophosphatasia.
Fetal anomalies v0.308 ALPL Rebecca Foulger Mode of inheritance for gene: ALPL was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.307 ACTA1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following review from Anna de Burca.
Fetal anomalies v0.307 ACTA1 Rebecca Foulger Mode of inheritance for gene: ACTA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.306 NDP Rebecca Foulger Publications for gene: NDP were set to
Fetal anomalies v0.305 NDP Rhiannon Mellis reviewed gene: NDP: Rating: AMBER; Mode of pathogenicity: ; Publications: 30125416; Phenotypes: Norrie disease; Mode of inheritance:
Fetal anomalies v0.305 BRCA2 Lyn Chitty reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.304 IARS Rebecca Foulger Phenotypes for gene: IARS were changed from Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
Fetal anomalies v0.303 IARS Rebecca Foulger Publications for gene: IARS were set to
Fetal anomalies v0.302 IARS Rebecca Foulger Classified gene: IARS as Green List (high evidence)
Fetal anomalies v0.302 IARS Rebecca Foulger Added comment: Comment on list classification: Promoted IARS from Amber to Green on advice from Genomics England clinical team. Although the DD-G2P Disease confidence rating is 'probable' for 'Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy', there are sufficient cases from the literature to support Green rating. As reviewed by Louise Daugherty on the 'Intellectual disability' panel: Kopajtich et al., 2016 PMID:27426735 reported 3 unrelated patients with a multisystem disorder characterized by intrauterine and postnatal growth retardation, including small head circumference (-3 to -5 SD), hypotonia and delayed psychomotor development with variable severity of intellectual disability.
Fetal anomalies v0.302 IARS Rebecca Foulger Gene: iars has been classified as Green List (High Evidence).
Fetal anomalies v0.301 GBE1 Rebecca Foulger Publications for gene: GBE1 were set to
Fetal anomalies v0.300 MYO7A Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Nothing structural that would present in a fetus. Action taken: Demoted KIT gene rating from Amber to Red.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Nothing structural that would present in a fetus. Action taken: Demoted MYO7A gene rating from Amber to Red.
Fetal anomalies v0.299 GBE1 Anna de Burca Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV; Polyglucosan body disease, adult form to Glycogen storage disease IV; Polyglucosan body disease, adult form; Fetal akinesia deformation sequence
Fetal anomalies v0.298 GBE1 Anna de Burca reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620786; Phenotypes: Fetal akinesia deformation sequence; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.298 COQ4 Anna de Burca reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25658047; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.298 DOLK Rebecca Foulger Mode of pathogenicity for gene: DOLK was changed from to Other
Fetal anomalies v0.297 DOLK Rebecca Foulger Publications for gene: DOLK were set to
Fetal anomalies v0.296 PDHB Anna de Burca gene: PDHB was added
gene: PDHB was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHB were set to 26865159
Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency
Review for gene: PDHB was set to AMBER
Added comment: PMID:26865159 reports a fetus with homozygous variants in PDHB where there was antenatal presentation of pyruvate dehydrogenase deficiency associated with craniofacial features and structural neurological defects.
Sources: Literature
Fetal anomalies v0.295 PDHA1 Anna de Burca reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26865159; Phenotypes: Pyruvate dehydrogenase E1-alpha 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 v0.295 KIAA1109 Rebecca Foulger Publications for gene: KIAA1109 were set to 30485398; 29290337
Fetal anomalies v0.294 KIAA1109 Rebecca Foulger Added comment: Comment on mode of pathogenicity: The Mode of pathogenicity recorded in Gene2Phenotype for the disorder 'Brain atrophy, Dandy Walker and Contractures' is: All missense/in frame. However, as summarised in PMID:29290337 (Gueneau et al., 2018),
case subjects compatible with life carry missense variants but many of the more severely affected cases harbor homozygous or compound het truncating alleles. Therefore changed the Mode of pathogenicity back to default so LOF variants are captured.
Fetal anomalies v0.294 KIAA1109 Rebecca Foulger Mode of pathogenicity for gene: KIAA1109 was changed from Other to None
Fetal anomalies v0.293 KIAA1109 Rebecca Foulger Classified gene: KIAA1109 as Green List (high evidence)
Fetal anomalies v0.293 KIAA1109 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green after agreement from Anna de Burca (Genomics England clinical team). KIAA1109 is Green on the 'Hydrocephalus' and 'Arthrogryposis' panels. Sufficient cases in OMIM to support association with Alkuraya-Kucinskas syndrome (MIM:617822) which includes arthrogryposis and brain abnormalities: severe cases are incompatible with life. Multiple ultrasounds abnormalities reported in PMIDs 30485398 and 29290337.
Fetal anomalies v0.293 KIAA1109 Rebecca Foulger Gene: kiaa1109 has been classified as Green List (High Evidence).
Fetal anomalies v0.292 KIAA1109 Rebecca Foulger Publications for gene: KIAA1109 were set to 30485398
Fetal anomalies v0.291 KIAA1109 Rebecca Foulger Phenotypes for gene: KIAA1109 were changed from Brain atrophy, Dandy Walker and Contractures to Brain atrophy, Dandy Walker and Contractures; Alkuraya-Kucinskas syndrome, 617822
Fetal anomalies v0.290 KIAA1109 Rebecca Foulger commented on gene: KIAA1109: PMID:30485398: Filatova et al. 2019 report a Russian family with fetal anomalies detected upon ultrasound scans of three pregnancies. The first pregnancy resulted in a miscarriage. The second and third pregnancies were terminated because of ultrasound fetal abnormalities. In the third pregnancy, anomalies included bilateral ventriculomegaly, arthrogryposis (radial clubhand, bilateral clubfoot, flexed deformity of hip, knee and ankle joints), bilateral pyelectasis, increased thickness of the nuchal‐fold, hypoplastic and low set ears- Sanger sequencing revealed that the polymalformative fetus had compound heterozygous KIAA1109 variants. One of the dichorionic twins in the 4th pregnancy had similar phenotype and biallelic KIAA1109 variants (the healthy twin had only one variant c.1932‐3A>G).
Fetal anomalies v0.290 KIAA1109 Rebecca Foulger Mode of pathogenicity for gene: KIAA1109 was changed from to Other
Fetal anomalies v0.289 KIAA1109 Rebecca Foulger Publications for gene: KIAA1109 were set to
Fetal anomalies v0.288 TCF20 Eleanor Williams Added comment: Comment on phenotypes: updated as phenotype added to OMIM in May 2019
Fetal anomalies v0.288 TCF20 Eleanor Williams Phenotypes for gene: TCF20 were changed from TCF20 syndrome to TCF20 syndrome; Developmental delay with variable intellectual impairment and behavioral abnormalities 618430
Fetal anomalies v0.287 PKD1 Eleanor Williams Added comment: Comment on mode of inheritance: updating MOI as biallelic cases have a more severe form of the disease
Fetal anomalies v0.287 PKD1 Eleanor Williams Mode of inheritance for gene: PKD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.285 COL4A3BP Louise Daugherty commented on gene: COL4A3BP
Fetal anomalies v0.285 COL4A3BP Louise Daugherty Tag new-gene-name tag was added to gene: COL4A3BP.
Fetal anomalies v0.284 CNOT1 Rebecca Foulger commented on gene: CNOT1: Keep as amber and added watchlist tag on advice from Helen Brittain (Genomics England Clinical Fellow);this might be a specific variant-related phenotype, and there is insufficient evidence for the gene in general at present.
Fetal anomalies v0.284 POMK Rebecca Foulger Marked gene: POMK as ready
Fetal anomalies v0.284 POMK Rebecca Foulger Gene: pomk has been classified as Green List (High Evidence).
Fetal anomalies v0.284 COG4 Rebecca Foulger Marked gene: COG4 as ready
Fetal anomalies v0.284 COG4 Rebecca Foulger Gene: cog4 has been classified as Green List (High Evidence).
Fetal anomalies v0.284 HNRNPK Rebecca Foulger Marked gene: HNRNPK as ready
Fetal anomalies v0.284 HNRNPK Rebecca Foulger Added comment: Comment when marking as ready: Anna de Burca (Genomics England clinical team) confirmed that Green rating was correct for HNRNPK.
Fetal anomalies v0.284 HNRNPK Rebecca Foulger Gene: hnrnpk has been classified as Green List (High Evidence).
Fetal anomalies v0.284 MYRF Rebecca Foulger Classified gene: MYRF as Green List (high evidence)
Fetal anomalies v0.284 MYRF Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. MYRF gene was added to the panel and reviewed by Julia Baptista. Sufficient cases to support MYRF variants causing Cardiac-urogenital syndrome (MIM:618280) from Pinz et al 2018 (PMID:29446546), Chitayat et al., (PMID:30070761), Qi et al.,2018 (PMID:30532227) and Rossetti et al., 2019 (PMID: 31069960). The phenotype is fetally-relevant (includes congenital diaphragmatic hernia/CDH, genital defects and cardiac defects) with multiple papers reporting detection in-utero: In both patients identified in Pinz et al 2018, anomalies were detected by ultrasound at 20 weeks gestation: mesocardia without other signs of heterotaxy (Patient 1), and a complex congenital heart defect with pericardial effusion (Patient 2). Chitayat et al., report a fetus with a novel de novo LOF variant in MYRF and a hypoplastic left heart and female external genitalia. In Rossetti et al., 2019, cardiac malformation and/or CDH was detected on a prenatal ultrasound.
Fetal anomalies v0.284 MYRF Rebecca Foulger Gene: myrf has been classified as Green List (High Evidence).
Fetal anomalies v0.283 MYRF Rebecca Foulger Added comment: Comment on publications: PMID:30985895 (Hamanaka et al., 2019) also report (in an enrichment study plus an independent cohort) that MYRF haploinsufficiencey causes disorders of sex development.
Fetal anomalies v0.283 MYRF Rebecca Foulger Publications for gene: MYRF were set to 30532227; 30985895; 31069960; 30070761; 29446546
Fetal anomalies v0.282 MYRF Rebecca Foulger Mode of inheritance for gene: MYRF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.281 MYRF Rebecca Foulger Phenotypes for gene: MYRF were changed from congenital diaphragmatic hernia, cardiac defect, disorders of sexual development to Cardiac-urogenital syndrome, 618280; Congenital diaphragmatic hernia (CDH); Disorders of sex development (DSD)
Fetal anomalies v0.280 MYRF Rebecca Foulger Publications for gene: MYRF were set to PMID: 30532227; 30985895; 31069960; 30070761; 29446546 )
Fetal anomalies v0.279 H19 Rebecca Foulger Classified gene: H19 as Red List (low evidence)
Fetal anomalies v0.279 H19 Rebecca Foulger Added comment: Comment on list classification: Demoted gene from Green to Red based on group clinical review, and confirmation from Richard Scott.
Fetal anomalies v0.279 H19 Rebecca Foulger Gene: h19 has been classified as Red List (Low Evidence).
Fetal anomalies v0.278 H19 Rebecca Foulger commented on gene: H19: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in Spring 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Epigenetic. Action taken: Demoted H19 gene rating from Green to Red. Additional notes from clinical review: Relevant variants are in the upstream methylation region rather than the coding region, and therefore won't be detected on the exome.
Fetal anomalies v0.278 H19 Richard Scott reviewed gene: H19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.277 PKD1 Rebecca Foulger Added comment: Comment on mode of inheritance: Although not yet listed in DD-Gene2Phenotype, PKD1 is listed in OMIM with AD inheritance for Polycystic kidney disease 1, 173900. Monoallelic MOI was also listed in the original PAGE Additional gene list. However the external review and the two cited papers support both AD and AR inheritance for polycystic kidney disease (PKD). PMID:23624871 note that recessive polycystic kidney disease (ARPKD) frequently presents antenatally or in the neonatal period with severe renal involvement.
Fetal anomalies v0.277 PKD1 Rebecca Foulger Mode of inheritance for gene: PKD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.276 PKD1 Rebecca Foulger commented on gene: PKD1: PMID:23624871 (Gilbert et al., 2013) was added as a publication by Julia Baptista. The authors describe a male fetus with renal enlargement and oligohydramnios diagnosed at 27 weeks of gestation. This presentation resembled autosomal recessive PKD (ARPKD). Genetic analysis revealed a heterozygous truncating variant (p.Ser2788fs) in PKD1 inherited from the mother, and three unreported PKD1 variants inherited from the father. Although the authors don't exclude the possibility of a pathogenic variant in an additional gene, the paternally-inherited alleles support biallelic PKD1 alleles causing the fetal kidney anomalies.
Fetal anomalies v0.276 PKD1 Rebecca Foulger commented on gene: PKD1: PMID:20558538 (Vujic et al., 2010) was added as a publication by Julia Baptista. The authors describe two pedigrees each with two patients with onset of polycystic kidney disease in-utero. Mutation analysis suggested that both families inherited, in trans, two incompletely penetrant PKD1 alleles, thus supporting autosomal recessive PKD.
Fetal anomalies v0.276 PKD1 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated the MOI from monoallelic to monoallelic AND biallelic, to match the review of Julia Baptista and evidence provided in PMID:20558538 (Vujic et al., 2010) and PMID:23624871 (Gilbert et al., 2013).
Fetal anomalies v0.276 PKD1 Rebecca Foulger Mode of inheritance for gene: PKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.275 PKD1 Rebecca Foulger Phenotypes for gene: PKD1 were changed from Polycystic kidney disease 173900 to Polycystic kidney disease, 173900; Autosomal recessive polycystic kidney disease (ARPKD); Autosomal dominant polycystic kidney disease (ADPKD)
Fetal anomalies v0.274 PKD1 Rebecca Foulger Publications for gene: PKD1 were set to
Fetal anomalies v0.274 PKD1 Rebecca Foulger Publications for gene: PKD1 were set to
Fetal anomalies v0.273 MYRF Julia Baptista gene: MYRF was added
gene: MYRF was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYRF were set to PMID: 30532227; 30985895; 31069960; 30070761; 29446546 )
Phenotypes for gene: MYRF were set to congenital diaphragmatic hernia, cardiac defect, disorders of sexual development
Review for gene: MYRF was set to GREEN
Added comment: Pinz et al. 2018 reported MYRF de novo pathogenic variants in 2 unrelated male infants with cardiac-urogenital syndrome (PMID: 29446546)
Chitayat et al. (2018) reported one additional male fetus with complex congenital heart disease and severe urogenital malformations (PMID: 30070761).
Qi et al. 2018 identified 7 patients from 6 families with heterozygous MYRF variants. All of the patients had cardiac defects. Urogenital defects were present in all 4 patients who were examined (PMID: 30532227).
Rosetti et al 2019 described de novo heterozygous MYRF variants in three males. Congenital heart disease was presnet in 2/3 and diaphragmatic hernia in 2/3.
Sources: Expert Review, Literature
Fetal anomalies v0.273 PKD1 Julia Baptista reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20558538, 23624871; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.273 ZFP57 Anna de Burca reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.273 SOX9 Rebecca Foulger edited their review of gene: SOX9: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous variant in SOX9 in a case where the main ultrasound finding was Shortened and bowed long bones, talipes (Table 1).; Changed rating: AMBER; Changed phenotypes: Shortened and bowed long bones, talipes
Fetal anomalies v0.273 L1CAM Rebecca Foulger edited their review of gene: L1CAM: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous variant in L1CAM in a case where the main ultrasound finding was Hydrocephalus consistent with aqueductal stenosis (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrocephalus consistent with aqueductal stenosis
Fetal anomalies v0.273 PIK3R2 Rebecca Foulger edited their review of gene: PIK3R2: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo likely-pathogenic variant in PIK3R2 in a case where the main ultrasound finding was Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias (Table 1).; Changed rating: AMBER; Changed phenotypes: Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias
Fetal anomalies v0.273 RIT1 Rebecca Foulger edited their review of gene: RIT1: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo variant in RIT1 in a case where the main ultrasound finding was Hydrops, CNS malformation, congenital heart defect (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrops, CNS malformations, congenital heart defect
Fetal anomalies v0.273 AMER1 Rebecca Foulger edited their review of gene: AMER1: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous variant in AMER1 in a case where the main ultrasound finding was Macrocephaly, cleft lip and palate, congenital heart defect, bifid thumb, CNS malformation, hydrocephalus (Table 1).; Changed rating: AMBER; Changed phenotypes: Macrocephaly, cleft lip and palate, congenital heart defect, bifid thumb, CNS malformation, hydrocephalu
Fetal anomalies v0.273 FANCB Rebecca Foulger edited their review of gene: FANCB: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous de novo variant in FANCB in a case where the main ultrasound finding was Ventriculomegaly, cardiac left-axis deviation, absent radii (Table 1).; Changed rating: AMBER; Changed phenotypes: Ventriculomegaly, cardiac left-axis deviation, absent radii
Fetal anomalies v0.273 CYP11A1 Rebecca Foulger edited their review of gene: CYP11A1: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a homozygous variant in CYP11A1 in a case where the main ultrasound finding was Hydrops, cardiomegaly (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrops, cardiomegaly
Fetal anomalies v0.273 FLNA Rebecca Foulger edited their review of gene: FLNA: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizgyous likely-pathogenic variant in FLNA in a case where the main ultrasound finding was CNS malformations (Table 1). A heterozygous variant in PTPN11 was also reported, which the authors classify as a Possible result.; Changed rating: AMBER; Changed phenotypes: CNS malformations
Fetal anomalies v0.273 MRPS22 Rebecca Foulger edited their review of gene: MRPS22: Added comment: Support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified compound heterozygous variants in MRPS22 in a case where the main ultrasound finding was Hydrops, CNS malformations, cardiomyopathy (Table 1).; Changed phenotypes: Hydrops, CNS malformations, cardiomyopathy
Fetal anomalies v0.273 FOXP3 Rebecca Foulger edited their review of gene: FOXP3: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous variant in FOXP3 in a case where the main ultrasound finding was Hydrops, contractures, echogenic kidney, placentalmegaly (Table 1). An additional variant in COL10A1 was reported that the authors classified as a possible result.; Changed rating: AMBER; Changed phenotypes: Hydrops, contractures, echogenic kidney, placentalmegaly
Fetal anomalies v0.273 PIK3CA Rebecca Foulger edited their review of gene: PIK3CA: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a de novo heterozygous variant in PIK3CA in a case where the main ultrasound finding was Brain malformations (Table 1). An inherited MYH3 variant was also detected in this case but was reclassified as likely benign based on allele frequency data.; Changed rating: AMBER; Changed phenotypes: Brain malformations
Fetal anomalies v0.273 PTPN11 Rebecca Foulger edited their review of gene: PTPN11: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo variant in PTPN11 in a case where the main ultrasound finding was Syndactyly, polydactyly (Table 1). An additional likely-pathogenic variant was identified in WDR35.; Changed rating: AMBER; Changed phenotypes: Syndactyly, polydactyly
Fetal anomalies v0.273 FGFR2 Rebecca Foulger edited their review of gene: FGFR2: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo variant in FGFR2 in a case where the main ultrasound finding was Fontal bossing, talipes, syndactyly, abducted thumbs (Table 1).; Changed rating: AMBER; Changed phenotypes: Fontal bossing, talipes, syndactyly, abducted thumbs
Fetal anomalies v0.273 RIPK4 Rebecca Foulger edited their review of gene: RIPK4: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous likely pathogenic variant in RIPK4 (plus a heterozygous VUS) in a case where the main ultrasound finding was Hydrops, diaphragmatic hernia, gracile ribs, contractures (Table 1). Additional VUS variants were reported in RSAD1 and PPAP2C.; Changed rating: AMBER; Changed phenotypes: Hydrops, diaphragmatic hernia, gracile ribs, contractures
Fetal anomalies v0.273 HRAS Rebecca Foulger edited their review of gene: HRAS: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous variant in HRAS in a case where the main ultrasound finding was Hydrops (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrops
Fetal anomalies v0.273 BBS4 Rebecca Foulger edited their review of gene: BBS4: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a pathogenic variant in BBS4 in a case where the main ultrasound finding was Bilateral enlarged cystic kidneys (Table 1). VUS variants in ANKS6 and PKD1 were also reported.; Changed rating: AMBER; Changed phenotypes: Bilateral enlarged cystic kidneys
Fetal anomalies v0.273 PIEZO1 Rebecca Foulger edited their review of gene: PIEZO1: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a case with two homozygous variants in PIEZO1 (one pathogenic, one VUS), where the main ultrasound finding was Hydrops (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrops
Fetal anomalies v0.272 SOX9 Rebecca Foulger Publications for gene: SOX9 were set to
Fetal anomalies v0.271 L1CAM Rebecca Foulger Publications for gene: L1CAM were set to
Fetal anomalies v0.270 PIK3R2 Rebecca Foulger Publications for gene: PIK3R2 were set to
Fetal anomalies v0.269 RIT1 Rebecca Foulger Publications for gene: RIT1 were set to
Fetal anomalies v0.268 AMER1 Rebecca Foulger Publications for gene: AMER1 were set to 8425981
Fetal anomalies v0.267 AMER1 Rebecca Foulger Publications for gene: AMER1 were set to
Fetal anomalies v0.266 FANCB Rebecca Foulger Publications for gene: FANCB were set to
Fetal anomalies v0.265 CYP11A1 Rebecca Foulger Publications for gene: CYP11A1 were set to
Fetal anomalies v0.264 FLNA Rebecca Foulger Publications for gene: FLNA were set to
Fetal anomalies v0.263 MRPS22 Rebecca Foulger Publications for gene: MRPS22 were set to
Fetal anomalies v0.262 FOXP3 Rebecca Foulger Publications for gene: FOXP3 were set to
Fetal anomalies v0.261 PIK3CA Rebecca Foulger Publications for gene: PIK3CA were set to
Fetal anomalies v0.260 PTPN11 Rebecca Foulger Publications for gene: PTPN11 were set to
Fetal anomalies v0.259 FGFR2 Rebecca Foulger Publications for gene: FGFR2 were set to
Fetal anomalies v0.258 RIPK4 Rebecca Foulger Publications for gene: RIPK4 were set to
Fetal anomalies v0.257 HRAS Rebecca Foulger Publications for gene: HRAS were set to
Fetal anomalies v0.256 BBS4 Rebecca Foulger Publications for gene: BBS4 were set to
Fetal anomalies v0.255 PIEZO1 Rebecca Foulger Publications for gene: PIEZO1 were set to 26333996; 23695678
Fetal anomalies v0.254 GJB2 Rebecca Foulger Publications for gene: GJB2 were set to
Fetal anomalies v0.253 BRAT1 Rebecca Foulger Publications for gene: BRAT1 were set to
Fetal anomalies v0.252 ATP7A Rebecca Foulger Publications for gene: ATP7A were set to
Fetal anomalies v0.251 HEXA Rebecca Foulger Publications for gene: HEXA were set to
Fetal anomalies v0.250 TRAF7 Rebecca Foulger Phenotypes for gene: TRAF7 were changed from Developmental Delay, Congenital Anomalies, and Dysmorphic Features to Developmental Delay, Congenital Anomalies, and Dysmorphic Features; Cardiac, facial, and digital anomalies with developmental delay, 618164
Fetal anomalies v0.249 TRAF7 Rebecca Foulger commented on gene: TRAF7: PMID:29961569 (Tokita et al, 2018 Table 1) list Prenatal ultrasound findings in five unrelated patients with the disorder 'Cardiac, facial, and digital anomalies with developmental delay' (MIM:618164) and TRAF7 missense variants. The prenatal findings include choroid plexus cyst, IUGR and cardiac defects.
Fetal anomalies v0.249 HNRNPK Rebecca Foulger Phenotypes for gene: HNRNPK were changed from Au-Kline Syndrome to Au-Kline syndrome, 616580
Fetal anomalies v0.248 CNOT1 Rebecca Foulger Classified gene: CNOT1 as Amber List (moderate evidence)
Fetal anomalies v0.248 CNOT1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber awaiting clinical review. In summary: Sufficient (five) unrelated cases from two 2019 papers (PMID:31006513 and PMID:31006510) with holoprosencephaly, and pancreatic agenesis in 4/5 cases. The same heterozygous variant was recorded in all five individuals and authors of PMID:31006513 suggest phenotype is variant-specific rather than LOF. Mice require a homozygous variant to display a phenotype.
Fetal anomalies v0.248 CNOT1 Rebecca Foulger Gene: cnot1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.247 CNOT1 Rebecca Foulger commented on gene: CNOT1: Kruszka et al., 2019 (PMID:31006510) report two unrelated individuals with semilobar holoprosencephaly who have the identical de novo missense variant in the gene CNOT1. (c.1603C>T [p.Arg535Cys]). Proband 1 was born after a pregnancy complicated by IUGR. Additional medical problems include diabetes, pancreatice exocrine insufficiency and facial characteristics. No diabetic or pancreatic phenotype was recorded for proband 2.
Fetal anomalies v0.247 CNOT1 Rebecca Foulger commented on gene: CNOT1: De Franco et al., 2019 (PMID:31006513) investigated a cohort of 107 individuals with pancreatic agenesis and definite/possible holoprosencephaly, and identified a heterozygous missense variant in CNOT1 (NM_016284.4; c.1603C>T (p.Arg535Cys)) in three unrelated individuals. The variant was de novo in two individuals, and was not present in the DNA sample from the third individual's father (maternal sample was unavailable). Mice required a homozygous variant to display a phenotype: in homozygous mice embryos (embryonically lethal) morphological abnormalities were apparent upon dissection including edema, a smaller dorsal pancreas, and exencephaly. The DDD study identified de novo CNOT1 variants in three individuals with developmental delay but none had holoprosencephaly, diabetes or pancreatic or neurological structural malformations. The authors therefore suggest that a mutation-specific mechanism rather than LOF is responsible for the pancreatic and holoprosencephaly phenotype.
Fetal anomalies v0.247 CNOT1 Rebecca Foulger reviewed gene: CNOT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.246 CNOT1 Rebecca Foulger gene: CNOT1 was added
gene: CNOT1 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to 31006510; 31006513
Phenotypes for gene: CNOT1 were set to pancreatic agenesis and holoprosencephaly syndrome
Mode of pathogenicity for gene: CNOT1 was set to Other - please provide details in the comments
Fetal anomalies v0.245 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Fetal anomalies v0.245 MUT Louise Daugherty commented on gene: MUT
Fetal anomalies v0.245 HNRNPK Rebecca Foulger Publications for gene: HNRNPK were set to 29904177; 30998304
Fetal anomalies v0.244 HNRNPK Rebecca Foulger commented on gene: HNRNPK: Added HNRNPK to the Fetal anomalies panel as a Green gene based on the DDG2P Disease confidence rating of 'confirmed' for Au-Kline syndrome. There is sufficient evidence (>3 unrelated cases from PMIDs:26173930,26954065,28771707,29904177) supporting a link between HNRNPK and Au-Kline syndrome. Plus the phenotype includes structural anomalies and PMID:29904177 report a prenatal presentation.
Fetal anomalies v0.244 HNRNPK Rebecca Foulger commented on gene: HNRNPK: Au et al., 2018 (PMID:29904177) report prenatal presentation of Au-Kline syndrome: patient 9 presented prenatally with prune belly sequence, club feet, cystic kidneys associated with large cystic hygroma, pleural effusions and enlarged bladder. An additional 5 prenatal patients showed increased nuchal translucency and 5 patients had hydronephrosis. Congenital heart disease was reported for one patient prenatally. Agenesis of the corpus callosum was observed prenatally in one patient. Choroid plexus cysts, hyperechoic bowel, and ventriculomegaly have also been detected in ultrasound in single patients.
Fetal anomalies v0.244 HNRNPK Rebecca Foulger commented on gene: HNRNPK: Au-Kline syndrome is a multiple malformation syndrome associated with intellectual disability. Patients have facial dysmorphic features and frequently have skeletal and connective tissue anomalies, craniosynostosis, congenital heart malformations, and renal anomalies (PMID:29904177). Structural phenotypes reported in the literature include talipes and partial agenesis of corpus callosum. Au et al., 2018 (PMID:29904177) report prenatal presentation with 5 patients showing increased nuchal translucency and 5 patients had hydronephrosis.
Fetal anomalies v0.244 HNRNPK Rebecca Foulger reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.243 HNRNPK Rebecca Foulger gene: HNRNPK was added
gene: HNRNPK was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPK were set to 29904177; 30998304
Phenotypes for gene: HNRNPK were set to Au-Kline Syndrome
Fetal anomalies v0.242 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
Fetal anomalies v0.242 APOPT1 Louise Daugherty commented on gene: APOPT1
Fetal anomalies v0.242 MYT1 Rebecca Foulger Mode of pathogenicity for gene: MYT1 was changed from to Other
Fetal anomalies v0.241 H19 Rebecca Foulger Mode of pathogenicity for gene: H19 was changed from to Other
Fetal anomalies v0.240 TRIM32 Rebecca Foulger commented on gene: TRIM32: Summary of evidence: 1 Bedouin family reported in PMID:16606853 (Chiang et al., 2006). Plus PMID:30823891 (Servián-Morilla et al 2019) report variations in TRIM32 causing a muscle dystrophy. Two patients from Family C (II.3 and II.4) had symptoms of both muscular dystrophy and BBS including hypogonadism, hearing loss, and behavioral abnormalities. Therefore 2 families reported so far.
Fetal anomalies v0.240 DDX3X Rebecca Foulger Publications for gene: DDX3X were set to 30266093
Fetal anomalies v0.239 GK Rebecca Foulger Publications for gene: GK were set to
Fetal anomalies v0.238 TUBB2A Rebecca Foulger Marked gene: TUBB2A as ready
Fetal anomalies v0.238 TUBB2A Rebecca Foulger Added comment: Comment when marking as ready: Maked TUBB2A as ready on April 30th 2019 following clinical review for fetal relevance, and a literature review for evidence.
Fetal anomalies v0.238 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Fetal anomalies v0.238 TUBB2A Rebecca Foulger Publications for gene: TUBB2A were set to
Fetal anomalies v0.237 TUBB2A Rebecca Foulger Classified gene: TUBB2A as Green List (high evidence)
Fetal anomalies v0.237 TUBB2A Rebecca Foulger Added comment: Comment on list classification: Kept rating as Green following an assessment of evidence linking TUBB2A and cortical malformations. TUBB2A is Green on the PanelApp panel 'Malformations of cortical development'. Two cases are listed in OMIM from Cushion et al. (2014, PMID:24702957) plus further cases of Structural brain abnormalities in patients with TUBB2A variants are reported in Rodan et al., 2017 (PMID:27770045), Lee et al., 2014 (PMID:25326637) and Ejaz et al., 2017 (PMID:28840640). PMID:30016746 (2018) provides a summary. PMID:25326637 phenotypes include polymicrogyria and microcephaly (the age of onset of microcephaly is not noted). PMID:28840640 phenotypes include polymicrogyria and Arthrogryposis. Therefore sufficient evidence linking TUBB2A to cortical malformations that may be detected in a fetus.
Fetal anomalies v0.237 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Fetal anomalies v0.236 TUBB2A Rebecca Foulger Mode of pathogenicity for gene: TUBB2A was changed from to Other
Fetal anomalies v0.235 TUBB2A Rebecca Foulger commented on gene: TUBB2A: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene if there is sufficient evidence. Additional notes from clinical review: Variable CNS features.
Fetal anomalies v0.235 DNAAF3 Rebecca Foulger Added comment: Comment on phenotypes: 'PRIMARY CILIARY DYSKINEASIA' phenotype comes from DD-Gene2Phenotype. Added in MIM:606763 so the correct spelling is present for search purposes. Ciliary dyskinesia, primary, 2
Fetal anomalies v0.235 DNAAF3 Rebecca Foulger Phenotypes for gene: DNAAF3 were changed from PRIMARY CILIARY DYSKINEASIA to PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763
Fetal anomalies v0.234 NEK1 Rebecca Foulger Added comment: Comment on phenotypes: The 'SHORT RIB-POLYDACTYLY SYNDORME, TYPE II' phenotype comes from Gene2Phenotype. Added 'Short rib-polydactyly Syndrome', together with MIM:263520 so the correct spelling is present for search purposes.
Fetal anomalies v0.234 NEK1 Rebecca Foulger Phenotypes for gene: NEK1 were changed from SHORT RIB-POLYDACTYLY SYNDORME, TYPE II to SHORT RIB-POLYDACTYLY SYNDORME, TYPE II; SHORT RIB-POLYDACTYLY SYNDROME, TYPE II; Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
Fetal anomalies v0.233 PCGF2 Rebecca Foulger Added comment: Comment on phenotypes: The 'INTELLECTUAL DUSBILITY' phenotype is imported from DD-Gene2Phenotype. Added 'Intellectual disability' so the correct spelling is present for search purposes.
Fetal anomalies v0.233 PCGF2 Rebecca Foulger Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features to INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features; Intellectual disability
Fetal anomalies v0.232 DDX3X Rebecca Foulger Phenotypes for gene: DDX3X were changed from INTELLECTUAL DIABILITY to INTELLECTUAL DIABILITY; Intellectual disability; Mental retardation, X-linked 102, 300958
Fetal anomalies v0.231 DDX3X Rebecca Foulger Added comment: Comment on phenotypes: The 'INTELLECTUAL DIABILITY phenotype is imported from DD-Gene2Phenotype. Added 'Intellectual disability' and the OMIM phenotype so the correct spelling is present for search purposes.
Fetal anomalies v0.231 DDX3X Rebecca Foulger Phenotypes for gene: DDX3X were changed from INTELLECTUAL DIABILITY to INTELLECTUAL DIABILITY
Fetal anomalies v0.230 COG4 Rebecca Foulger Phenotypes for gene: COG4 were changed from COG4-CDG to COG4-CDG; Saul-Wilson syndrome, 618150
Fetal anomalies v0.229 ZNF423 Rebecca Foulger Marked gene: ZNF423 as ready
Fetal anomalies v0.229 ZNF423 Rebecca Foulger Added comment: Comment when marking as ready: Marked ZNF423 as Ready on April 30th 2019: Fetally-relevant phenotype but currently insufficient evidence for inclusion.
Fetal anomalies v0.229 ZNF423 Rebecca Foulger Gene: znf423 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.229 SUFU Rebecca Foulger Marked gene: SUFU as ready
Fetal anomalies v0.229 SUFU Rebecca Foulger Added comment: Comment when marking as ready: Marked SUFU as Ready on April 30th 2019: Fetally-relevant phenotype but currently insufficient evidence for inclusion.
Fetal anomalies v0.229 SUFU Rebecca Foulger Gene: sufu has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.229 PPM1D Rebecca Foulger Source Expert Review Red was added to PPM1D.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 PLP1 Rebecca Foulger Source Expert Review Red was added to PLP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 PLCE1 Rebecca Foulger Source Expert Review Red was added to PLCE1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 KCNJ11 Rebecca Foulger Source Expert Review Red was added to KCNJ11.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 KCNT1 Rebecca Foulger Source Expert Review Red was added to KCNT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 RPGRIP1 Rebecca Foulger Source Expert Review Red was added to RPGRIP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 RPE65 Rebecca Foulger Source Expert Review Red was added to RPE65.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 ROGDI Rebecca Foulger Source Expert Review Red was added to ROGDI.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SLC4A4 Rebecca Foulger Source Expert Review Red was added to SLC4A4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 GLMN Rebecca Foulger Source Expert Review Red was added to GLMN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 TANGO2 Rebecca Foulger Source Expert Review Red was added to TANGO2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SETD5 Rebecca Foulger Source Expert Review Red was added to SETD5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 UBE2A Rebecca Foulger Source Expert Review Red was added to UBE2A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 UBA5 Rebecca Foulger Source Expert Review Red was added to UBA5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 USB1 Rebecca Foulger Source Expert Review Red was added to USB1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 UPF3B Rebecca Foulger Source Expert Review Red was added to UPF3B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 UFM1 Rebecca Foulger Source Expert Review Red was added to UFM1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 TSHB Rebecca Foulger Source Expert Review Red was added to TSHB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SLC25A38 Rebecca Foulger Source Expert Review Red was added to SLC25A38.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SLC39A13 Rebecca Foulger Source Expert Review Red was added to SLC39A13.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SLC6A8 Rebecca Foulger Source Expert Review Red was added to SLC6A8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SLC9A6 Rebecca Foulger Source Expert Review Red was added to SLC9A6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SKIV2L Rebecca Foulger Source Expert Review Red was added to SKIV2L.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SBDS Rebecca Foulger Source Expert Review Red was added to SBDS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SIX1 Rebecca Foulger Source Expert Review Red was added to SIX1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SCN4A Rebecca Foulger Source Expert Review Red was added to SCN4A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 TEK Rebecca Foulger Source Expert Review Red was added to TEK.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SMARCAL1 Rebecca Foulger Source Expert Review Red was added to SMARCAL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 PAX8 Rebecca Foulger Source Expert Review Red was added to PAX8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 WAC Rebecca Foulger Source Expert Review Red was added to WAC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 PAX6 Rebecca Foulger Source Expert Review Red was added to PAX6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.229 SPR Rebecca Foulger Source Expert Review Red was added to SPR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.228 PPM1D Rebecca Foulger edited their review of gene: PPM1D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PPM1D gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 PLP1 Rebecca Foulger edited their review of gene: PLP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PLP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 PLCE1 Rebecca Foulger edited their review of gene: PLCE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PLCE1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 KCNJ11 Rebecca Foulger edited their review of gene: KCNJ11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNJ11 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 KCNT1 Rebecca Foulger edited their review of gene: KCNT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 RPGRIP1 Rebecca Foulger edited their review of gene: RPGRIP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted RPGRIP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 RPE65 Rebecca Foulger edited their review of gene: RPE65: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted RPE65 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 ROGDI Rebecca Foulger edited their review of gene: ROGDI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ROGDI gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SLC4A4 Rebecca Foulger edited their review of gene: SLC4A4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC4A4 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 PEX14 Rebecca Foulger edited their review of gene: PEX14: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 RNASEH2C Rebecca Foulger edited their review of gene: RNASEH2C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 RNASEH2B Rebecca Foulger edited their review of gene: RNASEH2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 RNASEH2A Rebecca Foulger edited their review of gene: RNASEH2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SPATA5 Rebecca Foulger edited their review of gene: SPATA5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SPRED1 Rebecca Foulger edited their review of gene: SPRED1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SPG11 Rebecca Foulger edited their review of gene: SPG11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SLC12A6 Rebecca Foulger edited their review of gene: SLC12A6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 POGZ Rebecca Foulger edited their review of gene: POGZ: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 PHIP Rebecca Foulger edited their review of gene: PHIP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 GLMN Rebecca Foulger edited their review of gene: GLMN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GLMN gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 TRAPPC9 Rebecca Foulger edited their review of gene: TRAPPC9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 TANGO2 Rebecca Foulger edited their review of gene: TANGO2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TANGO2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 TAF1 Rebecca Foulger edited their review of gene: TAF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 TRPV4 Rebecca Foulger edited their review of gene: TRPV4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 TRIP12 Rebecca Foulger edited their review of gene: TRIP12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SETD5 Rebecca Foulger edited their review of gene: SETD5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SETD5 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 UBE2A Rebecca Foulger edited their review of gene: UBE2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UBE2A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 UBA5 Rebecca Foulger edited their review of gene: UBA5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UBA5 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 USB1 Rebecca Foulger edited their review of gene: USB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted USB1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 UPF3B Rebecca Foulger edited their review of gene: UPF3B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UPF3B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 UFM1 Rebecca Foulger edited their review of gene: UFM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UFM1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 TSHB Rebecca Foulger edited their review of gene: TSHB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TSHB gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 TMCO1 Rebecca Foulger edited their review of gene: TMCO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SLC25A38 Rebecca Foulger edited their review of gene: SLC25A38: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC25A38 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SLC39A13 Rebecca Foulger edited their review of gene: SLC39A13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC39A13 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SLC6A8 Rebecca Foulger edited their review of gene: SLC6A8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC6A8 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SMARCA2 Rebecca Foulger edited their review of gene: SMARCA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SLC9A6 Rebecca Foulger edited their review of gene: SLC9A6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC9A6 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SKIV2L Rebecca Foulger edited their review of gene: SKIV2L: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SKIV2L gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SBDS Rebecca Foulger edited their review of gene: SBDS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SBDS gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SIX1 Rebecca Foulger edited their review of gene: SIX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SIX1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 PRMT7 Rebecca Foulger edited their review of gene: PRMT7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SCN4A Rebecca Foulger edited their review of gene: SCN4A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN4A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 TFAP2B Rebecca Foulger edited their review of gene: TFAP2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 TEK Rebecca Foulger edited their review of gene: TEK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TEK gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 TBCD Rebecca Foulger edited their review of gene: TBCD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 SMARCAL1 Rebecca Foulger edited their review of gene: SMARCAL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SMARCAL1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 PAX8 Rebecca Foulger edited their review of gene: PAX8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PAX8 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 WAC Rebecca Foulger edited their review of gene: WAC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted WAC gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 PAX6 Rebecca Foulger edited their review of gene: PAX6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PAX6 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SPR Rebecca Foulger edited their review of gene: SPR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SPR gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.228 SOX10 Rebecca Foulger edited their review of gene: SOX10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 PTHLH Rebecca Foulger edited their review of gene: PTHLH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.228 PEPD Rebecca Foulger edited their review of gene: PEPD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.227 PROK2 Rebecca Foulger Publications for gene: PROK2 were set to 17054399
Fetal anomalies v0.226 TRIM32 Rebecca Foulger Marked gene: TRIM32 as ready
Fetal anomalies v0.226 TRIM32 Rebecca Foulger Added comment: Comment when marking as ready: Marked TRIM32 as ready following clinical review, and review of evidence. April 29th 2019.
Fetal anomalies v0.226 TRIM32 Rebecca Foulger Gene: trim32 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.226 TBX22 Rebecca Foulger Marked gene: TBX22 as ready
Fetal anomalies v0.226 TBX22 Rebecca Foulger Added comment: Comment when marking as ready: Marked TBX22 as ready following clinical review, and review of evidence. April 29th 2019.
Fetal anomalies v0.226 TBX22 Rebecca Foulger Gene: tbx22 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.226 GNAI1 Rebecca Foulger Marked gene: GNAI1 as ready
Fetal anomalies v0.226 GNAI1 Rebecca Foulger Added comment: Comment when marking as ready: Marked GNAI1 as ready following clinical review, and review of evidence. April 29th 2019.
Fetal anomalies v0.226 GNAI1 Rebecca Foulger Gene: gnai1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.226 CTDP1 Rebecca Foulger Marked gene: CTDP1 as ready
Fetal anomalies v0.226 CTDP1 Rebecca Foulger Added comment: Comment when marking as ready: Marked CTDP1 as ready following clinical review, and review of evidence. April 29th 2019.
Fetal anomalies v0.226 CTDP1 Rebecca Foulger Gene: ctdp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.226 WNT3 Rebecca Foulger Marked gene: WNT3 as ready
Fetal anomalies v0.226 WNT3 Rebecca Foulger Added comment: Comment when marking as ready: Marked WNT3 as ready following clinical review, and review of evidence. April 29th 2019.
Fetal anomalies v0.226 WNT3 Rebecca Foulger Gene: wnt3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.226 CWC27 Rebecca Foulger Publications for gene CWC27 were changed from to 28285769
Fetal anomalies v0.226 WNT3 Rebecca Foulger Source Expert Review Amber was added to WNT3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.226 CTDP1 Rebecca Foulger Source Expert Review Amber was added to CTDP1.
Publications for gene CTDP1 were changed from to 24690360; 14517542; 20301787; 29174527
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.226 TAPT1 Rebecca Foulger Source Expert Review Green was added to TAPT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.226 EDAR Rebecca Foulger Source Expert Review Red was added to EDAR.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.226 ITPR1 Rebecca Foulger Source Expert Review Red was added to ITPR1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.226 MYT1 Rebecca Foulger Source Expert Review Green was added to MYT1.
Publications for gene MYT1 were changed from 28612832; 27358179 to 27358179; 28612832
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.226 BMP2 Rebecca Foulger Source Expert Review Green was added to BMP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.226 MAOA Rebecca Foulger Source Expert Review Red was added to MAOA.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.226 MAFB Rebecca Foulger Source Expert Review Green was added to MAFB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.226 DEAF1 Rebecca Foulger Source Expert Review Red was added to DEAF1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.226 PCGF2 Rebecca Foulger Source Expert Review Green was added to PCGF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.226 SIM1 Rebecca Foulger Source Expert Review Red was added to SIM1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.226 SPTBN2 Rebecca Foulger Source Expert Review Red was added to SPTBN2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.226 FBXO11 Rebecca Foulger Source Expert Review Red was added to FBXO11.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.226 TBL1XR1 Rebecca Foulger Source Expert Review Green was added to TBL1XR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.225 COQ9 Rebecca Foulger edited their review of gene: COQ9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Diagnostic variant in PAGE study - fetus with dilated heart, pericardial effusion, anhydramnios, IUGR. ; Changed rating: GREEN
Fetal anomalies v0.225 CWC27 Rebecca Foulger edited their review of gene: CWC27: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN; Changed publications: 28285769
Fetal anomalies v0.225 SLC35A2 Rebecca Foulger edited their review of gene: SLC35A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 WNT3 Rebecca Foulger commented on gene: WNT3: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Currently insufficient evidence for fetally-relevant Tetra-Amelia syndrome.
Fetal anomalies v0.225 G6PC3 Rebecca Foulger edited their review of gene: G6PC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: G6PC3 was originally added to the Fetal anomalies panel from the PAGE Additional gene list. G6PC3 is not yet associated with a disorder in Gene2Phenotype but is associated in OMIM with Dursun syndrome and Neutropenia, severe congenital 4, autosomal recessive (both MIM:612541). Since structural features were noted in some patients, it was decided that on balance G6PC3 should be included on the panel.; Changed rating: GREEN
Fetal anomalies v0.225 CTDP1 Rebecca Foulger edited their review of gene: CTDP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Although CTDP1 has a 'confirmed' Disease confidence rating in DD-G2P for CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME, the disorder is prevalent in Bulagarian Gypsy populations, and is limited to a founder variant.; Changed publications: 14517542, 29174527, 20301787, 24690360
Fetal anomalies v0.225 TAPT1 Rebecca Foulger edited their review of gene: TAPT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 EDAR Rebecca Foulger edited their review of gene: EDAR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: In agreement with previous review by Deirdre Cilliers, no structural phenotypes would present on a fetal scan. Action taken: Demoted EDAR gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.225 ITPR1 Rebecca Foulger edited their review of gene: ITPR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Demoted ITPR1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.225 H3F3A Rebecca Foulger edited their review of gene: H3F3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: H3F3A was demoted to Red as it is no longer associated with a disorder in Gene2Phenotype, and has no associated disorder in OMIM.; Changed rating: RED
Fetal anomalies v0.225 MYT1 Rebecca Foulger edited their review of gene: MYT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: There is no disorder in OMIM assocaited with MYT1, but Oculo-auriculo-vertebral spectrum (OAVS, also called Goldenhar) is described in two papers from same group- PMID:28612832 and PMID:27358179. There are 3 MYT1 variants from these 2 papers (2 missense, 1 nonsense) in OAVS patients so just meets evidence threshold. Caution was taken given the genetic heterogeneity and non-genetic factors associated with OAVS/Goldenhar. However on balance it was decided that the 3 literature variants are sufficient evidence for inclusion of MYT1 on the Fetal anomalies panel.; Changed rating: GREEN; Changed publications: 28612832, 27358179
Fetal anomalies v0.225 BMP2 Rebecca Foulger edited their review of gene: BMP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Action taken: Updated rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.225 MAOA Rebecca Foulger edited their review of gene: MAOA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural features. Action taken: Demoted MAOA gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.225 MAFB Rebecca Foulger edited their review of gene: MAFB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 DEAF1 Rebecca Foulger edited their review of gene: DEAF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: In agreement with previous DEAF1 review from Deirdre Cilliers, no structural features would present on a fetal scan. Action taken: Demoted DEAF1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.225 VPS53 Rebecca Foulger edited their review of gene: VPS53: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 PCGF2 Rebecca Foulger edited their review of gene: PCGF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 SIM1 Rebecca Foulger edited their review of gene: SIM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SIM1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.225 C11orf70 Rebecca Foulger edited their review of gene: C11orf70: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 TOP3A Rebecca Foulger edited their review of gene: TOP3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 SUZ12 Rebecca Foulger edited their review of gene: SUZ12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Fetal relevance is borderline- PMIDs:28229514 and 30019515 report a set of features where it is unclear if they would be detected prenatally, including one case of increased head circumference at birth (but also one case with reduced head circumference at birth) some facial and limb features etc. Evidence wise, there are just enough cases from the literature (2 papers from the same group) to support inclusion: Imagawa et al., 2017 (PMID:28229514) identified a missense somatic mosaic mutation (c.1829A>T, p.Glu610Val) in SUZ12 in a patient with clinically suspected Weaver syndrome. Imagawa et al., 2018 (PMID:30019515) report two further Weaver syndrome-like patients with SUZ12 variants (a missense and a frameshift). On balance, it was decided that SUZ12 should be included on the Fetal anomalies panel.; Changed rating: GREEN; Changed publications: 28229514, 30019515
Fetal anomalies v0.225 SPTBN2 Rebecca Foulger edited their review of gene: SPTBN2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SPTBN2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.225 SEPSECS Rebecca Foulger edited their review of gene: SEPSECS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 FBXO11 Rebecca Foulger edited their review of gene: FBXO11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FBXO11 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.225 DNAH9 Rebecca Foulger edited their review of gene: DNAH9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 CACNA1E Rebecca Foulger edited their review of gene: CACNA1E: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.225 TBL1XR1 Rebecca Foulger edited their review of gene: TBL1XR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Include based on combination of (subtle) phenotypes. Action taken: Upgraded TBL1XR1 from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.225 DDX3X Rebecca Foulger edited their review of gene: DDX3X: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Although clefting is not a consistent feature (DDX3X is Amber on the V1.34 Clefting panel in PanelApp), there are enough other phenotypes to warrant inclusion.; Changed rating: GREEN
Fetal anomalies v0.224 RAB39B Rebecca Foulger Deleted their comment
Fetal anomalies v0.224 SMO Rebecca Foulger commented on gene: SMO: Added 'somatic' tag alonside the 'mosaicism' tag following clinical review of SMO (April 26th 2019 with Lyn Chitty, Anna de Burca, Richard Scott and Rhiannon Mellis.
Fetal anomalies v0.224 SMO Rebecca Foulger Tag somatic tag was added to gene: SMO.
Fetal anomalies v0.224 ASCC1 Rebecca Foulger commented on gene: ASCC1: ASCC1 was added to the panel as a Grey gene by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). ASCC1 rating was changed from Grey to Green following clinical review by Lyn Chitty, Richard Scott, Anna de Burca and Rhiannon Mellis; fetally relevant plus sufficient cases from Julia Baptista's review to support inclusion.
Fetal anomalies v0.224 MYH6 Rebecca Foulger Added comment: Comment on mode of inheritance: MYH6 had 'monoallelic' inheritance in the original PAGE list/DD-G2P for all three disorders. Changed mode of inheritance from 'monoallelic' to 'biallelic' following group expert clinical review by Lyn Chitty, Richard Scott, Anna de Burca and Rhiannon Mellis on 26th April 2019.
Fetal anomalies v0.224 MYH6 Rebecca Foulger Mode of inheritance for gene: MYH6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.223 TRIM32 Rebecca Foulger Source Expert Review Amber was added to TRIM32.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.223 TBX22 Rebecca Foulger Source Expert Review Amber was added to TBX22.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.223 SEC23B Rebecca Foulger Publications for gene SEC23B were changed from to 20381388
Fetal anomalies v0.223 GNAI1 Rebecca Foulger Source Expert Review Amber was added to GNAI1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.223 GK Rebecca Foulger Source Expert Review Red was added to GK.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 PGK1 Rebecca Foulger Source Expert Review Red was added to PGK1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 PGM3 Rebecca Foulger Source Expert Review Red was added to PGM3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 TUBB4A Rebecca Foulger Source Expert Review Red was added to TUBB4A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 RAB39B Rebecca Foulger Publications for gene RAB39B were changed from to 20159109; 29152164
Fetal anomalies v0.223 WRAP53 Rebecca Foulger Source Expert Review Red was added to WRAP53.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 KCNJ10 Rebecca Foulger Source Expert Review Red was added to KCNJ10.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 ASCC1 Rebecca Foulger Source Expert Review Green was added to ASCC1.
Rating Changed from No List (delete) to Green List (high evidence)
Fetal anomalies v0.223 KCTD7 Rebecca Foulger Source Expert Review Red was added to KCTD7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 KCNQ3 Rebecca Foulger Source Expert Review Red was added to KCNQ3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 KBTBD13 Rebecca Foulger Source Expert Review Red was added to KBTBD13.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 POLR3B Rebecca Foulger Source Expert Review Red was added to POLR3B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 FGF8 Rebecca Foulger Publications for gene FGF8 were changed from to 18596921; 20463092; 24280688
Fetal anomalies v0.223 PROKR2 Rebecca Foulger Source Expert Review Red was added to PROKR2.
Publications for gene PROKR2 were changed from to 17054399
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 KISS1R Rebecca Foulger Source Expert Review Red was added to KISS1R.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 PROK2 Rebecca Foulger Source Expert Review Red was added to PROK2.
Publications for gene PROK2 were changed from 30712880 to 17054399
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 RAB39B Rebecca Foulger Source Expert Review Red was added to RAB39B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 SMAD3 Rebecca Foulger Source Expert Review Red was added to SMAD3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 KCNQ1 Rebecca Foulger Source Expert Review Red was added to KCNQ1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.223 RRM2B Rebecca Foulger Source Expert Review Green was added to RRM2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.223 MYH6 Rebecca Foulger Source Expert Review Green was added to MYH6.
Mode of inheritance for gene MYH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.223 LDB3 Rebecca Foulger Source Expert Review Red was added to LDB3.
Publications for gene LDB3 were changed from to 17394203
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.223 TGFB2 Rebecca Foulger Source Expert Review Green was added to TGFB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.223 HSPD1 Rebecca Foulger Source Expert Review Green was added to HSPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.223 DARS2 Rebecca Foulger Source Expert Review Red was added to DARS2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.223 ATP13A2 Rebecca Foulger Source Expert Review Red was added to ATP13A2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.223 BGN Rebecca Foulger Source Expert Review Green was added to BGN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.223 PLA2G6 Rebecca Foulger Source Expert Review Red was added to PLA2G6.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.223 ALAD Rebecca Foulger Source Expert Review Red was added to ALAD.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.223 ABCD1 Rebecca Foulger Source Expert Review Red was added to ABCD1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.223 SNORD118 Rebecca Foulger Source Expert Review Green was added to SNORD118.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.222 TRIM32 Rebecca Foulger commented on gene: TRIM32: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Demote from Green to Amber.
Fetal anomalies v0.222 TBX22 Rebecca Foulger commented on gene: TBX22: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Amber for Abruzzo-Erickson syndrome (MIM: 302905) due to the limited evidence. The clefting phenotype has sufficient cases but is isolated cleft palate so unlikely to be seen prenatally (confirmed by Lyn Chitty, 26th April 2019). Therefore demote from Green to Amber.
Fetal anomalies v0.222 SEC23B Rebecca Foulger edited their review of gene: SEC23B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: No hydrops case in PAGE study for SEC23B, but 2 unrelated cases published in PMID:20381388.; Changed publications: 20381388
Fetal anomalies v0.222 HCCS Rebecca Foulger edited their review of gene: HCCS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Various fetal phenotypes on OMIM e.g. Ventricular septal defect (VSD) and diaphragmatic hernia.; Changed rating: GREEN
Fetal anomalies v0.222 GNAI1 Rebecca Foulger commented on gene: GNAI1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Demote from Green to Amber due to limited evidence (unpublished, Decipher only).
Fetal anomalies v0.222 GK Rebecca Foulger edited their review of gene: GK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Neonatal phenotypes. Action taken: Demoted GK gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 DKC1 Rebecca Foulger edited their review of gene: DKC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 ERCC1 Rebecca Foulger edited their review of gene: ERCC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: IUGR amongst the phenotypes.; Changed rating: GREEN
Fetal anomalies v0.222 PNKP Rebecca Foulger edited their review of gene: PNKP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 PGK1 Rebecca Foulger edited their review of gene: PGK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PGK1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 TGFBR1 Rebecca Foulger edited their review of gene: TGFBR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 TGFB3 Rebecca Foulger edited their review of gene: TGFB3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 TGFBR2 Rebecca Foulger edited their review of gene: TGFBR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 PGM3 Rebecca Foulger edited their review of gene: PGM3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PGM3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 TUBB4A Rebecca Foulger edited their review of gene: TUBB4A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TUBB4A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 SMO Rebecca Foulger edited their review of gene: SMO: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Somatic mosaic.; Changed rating: GREEN
Fetal anomalies v0.222 SLC2A10 Rebecca Foulger edited their review of gene: SLC2A10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 SLC39A8 Rebecca Foulger edited their review of gene: SLC39A8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 RAB39B Rebecca Foulger edited their review of gene: RAB39B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Don't include on panel because of incidental finding issue with Parkinsons. Two papers in which macrocephaly is mentioned: PMID:20159109 dont specify age of onset, and in PMID:29152164 macrocephaly was detected in early childhood. Action taken: Demoted RAB39B gene rating from Green to Red.; Changed publications: 20159109, 29152164
Fetal anomalies v0.222 ZFP57 Rebecca Foulger edited their review of gene: ZFP57: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Intrauterine growth retardation leading to tiny babies.; Changed rating: GREEN
Fetal anomalies v0.222 WRAP53 Rebecca Foulger edited their review of gene: WRAP53: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted WRAP53 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 KCNJ10 Rebecca Foulger edited their review of gene: KCNJ10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Digenic, and insufficient features that would be detected prenatally. Action taken: Demoted KCNJ10 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 IGF1R Rebecca Foulger edited their review of gene: IGF1R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 IGF1 Rebecca Foulger edited their review of gene: IGF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Phenotypes include IUGR.; Changed rating: GREEN
Fetal anomalies v0.222 IGHMBP2 Rebecca Foulger edited their review of gene: IGHMBP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Phenotypes include IUGR, reduced fetal movements and foot deformities.; Changed rating: GREEN
Fetal anomalies v0.222 ERCC5 Rebecca Foulger edited their review of gene: ERCC5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 COL1A1 Rebecca Foulger commented on gene: COL1A1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.222 GBA2 Rebecca Foulger edited their review of gene: GBA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 PPIB Rebecca Foulger edited their review of gene: PPIB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 GLB1 Rebecca Foulger edited their review of gene: GLB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 ADNP Rebecca Foulger edited their review of gene: ADNP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 COL6A2 Rebecca Foulger edited their review of gene: COL6A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Both conditions have features that would present. Keep Mode of inhertiance as both monoallelic and biallelic.; Changed rating: GREEN
Fetal anomalies v0.222 ASCC1 Rebecca Foulger reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.222 CENPJ Rebecca Foulger edited their review of gene: CENPJ: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 CDT1 Rebecca Foulger edited their review of gene: CDT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 CDON Rebecca Foulger edited their review of gene: CDON: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Holoprosencephaly phenotype and CDON is Green on the 'Holoprosencephaly' V1.11 PanelApp panel.; Changed rating: GREEN
Fetal anomalies v0.222 LRP4 Rebecca Foulger edited their review of gene: LRP4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 KCTD7 Rebecca Foulger edited their review of gene: KCTD7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Thin corpus collosum in one family. Action taken: Demoted KCTD7 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 KCNQ3 Rebecca Foulger edited their review of gene: KCNQ3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No relevant structural features. Seizures postnatally. Action taken: Demoted KCNQ3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 KBTBD13 Rebecca Foulger edited their review of gene: KBTBD13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KBTBD13 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 POLR3B Rebecca Foulger edited their review of gene: POLR3B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Clinical features include natal teeth and thin corpus callosum (insufficient for inclusion on panel). Neurological features are variable. Action taken: Demoted POLR3B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 POLR3A Rebecca Foulger commented on gene: POLR3A: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Include due to Wiedemann-Rautenstrauch syndrome (MIM:264090, neonatal onset progeroid syndrome; can present antenatally with IUGR and relative microcephaly).
Fetal anomalies v0.222 FGFR1 Rebecca Foulger commented on gene: FGFR1: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Include on basis of Pfeiffer syndrome (MIM:101600).
Fetal anomalies v0.222 CHD7 Rebecca Foulger commented on gene: CHD7: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Include on basis of CHARGE syndrome (MIM:214800).
Fetal anomalies v0.222 FGF8 Rebecca Foulger edited their review of gene: FGF8: Added comment: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Structural features from birth. PMID:20463092 report 2 families; 1 affected indiv also had cleft lip and palate. PMID:24280688 report a singleton with micropenis, cleft lip and palate, craniofacial anomalies and ventricular septal defect (VSD) at birth. PMID:18596921 report 6 families with missense variants; one also had variant in FGFR1; in one family 2 sibs had cleft lip/palate but reduced penetrance. Overall include on Fetal panel based on cleft lip/palate phenotype. ; Changed publications: 20463092, 24280688, 18596921
Fetal anomalies v0.222 ANOS1 Rebecca Foulger edited their review of gene: ANOS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Include on basis of renal agenesis.; Changed rating: GREEN
Fetal anomalies v0.222 PROKR2 Rebecca Foulger edited their review of gene: PROKR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: PMID:17054399 comments that PROKR2-associated Kallmann syndrome is not associated with structural features. Action taken: Demoted PROKR2 gene rating from Green to Red.; Changed rating: RED; Changed publications: 17054399
Fetal anomalies v0.222 KISS1R Rebecca Foulger edited their review of gene: KISS1R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No mention of structural features in OMIM. Action taken: Demoted KISS1R gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 PROK2 Rebecca Foulger edited their review of gene: PROK2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: PMID:17054399 comments that PROK2-associated Kallmann syndrome is not associated with structural features. Action taken: Demoted PROK2 gene rating from Green to Red.; Changed rating: RED; Changed publications: 17054399
Fetal anomalies v0.222 ASAH1 Rebecca Foulger edited their review of gene: ASAH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Can (rarely) cause arthrogryposis.; Changed rating: GREEN
Fetal anomalies v0.222 RAB39B Rebecca Foulger edited their review of gene: RAB39B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Risk of incidental findings. Action taken: Demoted RAB39B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 SMAD3 Rebecca Foulger edited their review of gene: SMAD3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Clefting phenotype is fetally-relevant, but exclude based on risk of incidental findings. Action taken: Demoted SMAD3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 PTEN Rebecca Foulger edited their review of gene: PTEN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Although caution was taken when considering PTEN for the Fetal anomalies panel because of the cancer association (and therefore a potential incidental finding), macrocephaly presents at birth and PTEN is Green on the Hydrocephalus panel. Therefore after group review, it was decided to include PTEN on the Fetal anomalies panel.; Changed rating: GREEN
Fetal anomalies v0.222 KCNQ1 Rebecca Foulger edited their review of gene: KCNQ1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Risk of incidental findings. Action taken: Demoted KCNQ1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.222 RRM2B Rebecca Foulger edited their review of gene: RRM2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Presents early in life, so may potentially be diagnosed fetally.; Changed rating: GREEN
Fetal anomalies v0.222 MYH6 Rebecca Foulger edited their review of gene: MYH6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Include MYH6 on the panel with BIALLELIC inheritance.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.222 LDB3 Rebecca Foulger edited their review of gene: LDB3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Concluded that myopathy is unlikely to produce Fetal hydrops in this instance. Although PMID:17394203 report a proband with variants in both TAZ and LDB3, where the mother had five miscarriages (plus two sons who died in infancy and 2 surviving children) the LDB3 variant is paternally-inherited, and therefore the maternally-inherited TAZ allele is more relevant. Action taken: Demoted LDB3 gene rating from Amber to Red.; Changed rating: RED; Changed publications: 17394203
Fetal anomalies v0.222 TGFB2 Rebecca Foulger edited their review of gene: TGFB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 HSPD1 Rebecca Foulger edited their review of gene: HSPD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.222 DARS2 Rebecca Foulger edited their review of gene: DARS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Slowly progressive and manifests later. Action taken: Demoted DARS2 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.222 ATP13A2 Rebecca Foulger edited their review of gene: ATP13A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ATP13A2 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.222 BGN Rebecca Foulger edited their review of gene: BGN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Review of BGN as Amber by Anna was before group review of the panel began. Following group review, it was decided that BGN should be included for the skeletal phenotype (Spondyloepimetaphyseal dysplasia) with X-linked RECESSIVE inheritance.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.222 PLA2G6 Rebecca Foulger edited their review of gene: PLA2G6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PLA2G6 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.222 ALAD Rebecca Foulger edited their review of gene: ALAD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Postnatal phenotype, and no structural phenotype to detect prenatally. Action taken: Demoted ALAD gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.222 ABCD1 Rebecca Foulger edited their review of gene: ABCD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset and progressive- Nothing would be picked up fetally. Action taken: Demoted ABCD1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.222 FMR1 Rebecca Foulger edited their review of gene: FMR1: Changed rating: RED
Fetal anomalies v0.222 SNORD118 Rebecca Foulger edited their review of gene: SNORD118: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.221 FMR1 Rebecca Foulger Classified gene: FMR1 as Red List (low evidence)
Fetal anomalies v0.221 FMR1 Rebecca Foulger Gene: fmr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.220 FMR1 Rebecca Foulger commented on gene: FMR1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FMR1 gene rating from Amber to Red.
Fetal anomalies v0.220 ASCC1 Rebecca Foulger Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478
Fetal anomalies v0.219 PTEN Rebecca Foulger commented on gene: PTEN: In original PAGE file (and in DD-G2P), mode of inheritance is 'Monoallelic' for MACROCEPHALY/AUTISM SYNDROME; BANNAYAN-ZONANA SYNDROME; COWDEN DISEASE; VACTERL ASSOCIATION WITH HYDROCEPHALUS; LHERMITTE-DUCLOS DISEASE. Mode of inheritance in original PAGE file (and in DD-G2P) is mosaic for PROTEUS SYNDROME.
Fetal anomalies v0.219 MYH6 Rebecca Foulger commented on gene: MYH6: In original PAGE file, mode of inheritance is 'Monoallelic' for all three disorders (ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14).
Fetal anomalies v0.219 H3F3A Rebecca Foulger Classified gene: H3F3A as Red List (low evidence)
Fetal anomalies v0.219 H3F3A Rebecca Foulger Gene: h3f3a has been classified as Red List (Low Evidence).
Fetal anomalies v0.218 H3F3A Rebecca Foulger commented on gene: H3F3A: H3F3A was added to the Fetal anomalies panel as Amber based on a 'probable' Disease confidence rating in the original PAGE file and DD-G2P. At the time of panel review, H3F3A is no longer associated with a disorder in DD-Gene2Phenotype (April 2019). No OMIM disorder is associated with H3F3A and there are no publications supporting an obvious gene:disorder association. Therefore demoted H3F3A from Amber to Red.
Fetal anomalies v0.218 MYT1 Rebecca Foulger commented on gene: MYT1: Berenguer et al 2017 (PMID:28612832) identified a third (de novo) MYT1 variant in a patient with OAVS: c.323C>T p.Ser108Leu from a cohort of 57 new patients with a typically heterogeneous OAVS. From functional studies, it's still unclear how these variants impact retinoic acid signaling and contribute to the phenotype.
Fetal anomalies v0.218 MYT1 Rebecca Foulger commented on gene: MYT1: Lopez et al 2016 (PMID:27358179) identified a heterozgous MYT1 de novo nonsense variant in one patient (c.25C>T, p.Arg9*) and one heterozygous inherited missense variant in second patient (c.314C>T, p.Ser105Leu) in a cohort of 169patients with OAVS. Functional studies by transient knockdown of myt1a in zebrafish, led to specific craniofacial cartilage alterations.
Fetal anomalies v0.218 MYT1 Rebecca Foulger commented on gene: MYT1: 2 papers linking MYT1 to OAVS: PMID:28612832 and PMID:27358179. Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder characterized by hemifacial microsomia associated with ear, eyes and vertebrae malformations showing highly variable expressivity (PMID:28612832).
Fetal anomalies v0.218 MYT1 Rebecca Foulger Publications for gene: MYT1 were set to 28612832
Fetal anomalies v0.217 MYT1 Rebecca Foulger commented on gene: MYT1: MYT1 is not currently associated with a disorder in OMIM (April 2019).
Fetal anomalies v0.217 TBL1XR1 Rebecca Foulger Publications for gene: TBL1XR1 were set to 28687524; 30365874; 26769062; 25425123; 23160955
Fetal anomalies v0.216 TBL1XR1 Rebecca Foulger Tag missense tag was added to gene: TBL1XR1.
Fetal anomalies v0.216 TBL1XR1 Rebecca Foulger commented on gene: TBL1XR1: Evidence assessment for 'Pierpont syndrome, 602342' comprises 6 unrelated patients from Heinen et al. 2016 (PMID:26769062) with the same de novo heterozygous missense variant in the TBL1XR1 gene (c.1337A>G, p.Y446C). Plus a male child with the same missense variant from Kahlert et al., 2017 (PMID:28562391).
Fetal anomalies v0.216 EMG1 Rebecca Foulger Classified gene: EMG1 as Amber List (moderate evidence)
Fetal anomalies v0.216 EMG1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber awaiting further published/clinical evidence. Phenotype is fetally-relevant (see review from Deirdre Cilliers) but current gene:disease evidence for Bowen-Conradi syndrome is limited to Hutterite families (PMID:19463982).
Fetal anomalies v0.216 EMG1 Rebecca Foulger Gene: emg1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.215 SUFU Rebecca Foulger Classified gene: SUFU as Amber List (moderate evidence)
Fetal anomalies v0.215 SUFU Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber awaiting further published or clinical evidence. Joubert syndrome is fetally-relevant (see review by Dierdre Cilliers) but currently only 2 unrelated cases from one paper (PMID:28965847) and SUFU is Amber on the related 'Rare multisystem ciliopathy disorders' panel (for Joubert syndrome).
Fetal anomalies v0.215 SUFU Rebecca Foulger Gene: sufu has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.214 POMK Rebecca Foulger Classified gene: POMK as Green List (high evidence)
Fetal anomalies v0.214 POMK Rebecca Foulger Gene: pomk has been classified as Green List (High Evidence).
Fetal anomalies v0.213 POMK Rebecca Foulger Classified gene: POMK as Amber List (moderate evidence)
Fetal anomalies v0.213 POMK Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Fetally-relevant phenotype (hydrocephalus and macrocephaly detected in utero in patient in PMID:24925318) plus sufficient cases in literature/OMIM to support causation. Plus POMK is rated Green on PanelApp panels including Congenital muscular dystrophy/Hydrocephalus/Arthrogryposis.
Fetal anomalies v0.213 POMK Rebecca Foulger Gene: pomk has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.212 POMK Rebecca Foulger Publications for gene: POMK were set to 23519211; 24925318
Fetal anomalies v0.211 POMK Rebecca Foulger Added comment: Comment on publications: POMK is called SGK196 in PMID:23519211.
Fetal anomalies v0.211 POMK Rebecca Foulger Publications for gene: POMK were set to
Fetal anomalies v0.210 POMK Rebecca Foulger commented on gene: POMK: Patient 3 in PMID:24925318 (Di Costanzo et al, 2014) was an Italian male presenting with the most severe form of dystroglycanopathy, Walker–Warburg syndrome (WWS) and compound het variants in POMK. Macrocephaly and hydrocephalus were diagnosed in utero upon prenatal ultrasound at 32 weeks of gestation.
Fetal anomalies v0.210 POMK Rebecca Foulger commented on gene: POMK: POMK was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) POMK is listed as an Additional gene based on association with a prenatal phenotype reported in the literature (Supplementary Table 2). POMK is not currently associated with a disorder in DD-Gene2Phenotype but is associated with 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249' in OMIM.
Fetal anomalies v0.210 ZNF423 Rebecca Foulger Classified gene: ZNF423 as Amber List (moderate evidence)
Fetal anomalies v0.210 ZNF423 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following review of literature evidence in PMID:22863007 and ZNF423 is currently Amber on the 'Rare multisystem ciliopathy disorders' panel. Fetally relevant phenotype but currently insufficient evidence for a Green gene rating.
Fetal anomalies v0.210 ZNF423 Rebecca Foulger Gene: znf423 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.210 ZNF423 Rebecca Foulger Classified gene: ZNF423 as Amber List (moderate evidence)
Fetal anomalies v0.210 ZNF423 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following review of literature evidence in PMID:22863007 and ZNF423 is currently Amber on the 'Rare multisystem ciliopathy disorders' panel. Fetally relevant phenotype but currently insufficient evidence for a Green gene rating.
Fetal anomalies v0.210 ZNF423 Rebecca Foulger Gene: znf423 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.209 ZNF423 Rebecca Foulger Publications for gene: ZNF423 were set to
Fetal anomalies v0.208 ZNF423 Rebecca Foulger commented on gene: ZNF423: Chaki et al. (2012 PMID:22863007) identified a homozygous 2738C-T variant in the ZNF423 gene (P913L) in two Turkish siblings with with nephronophthisis-14 manifested as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Heterozygous variants were found in two additional unrelated patients with Joubert syndrome.
Fetal anomalies v0.208 ZNF423 Rebecca Foulger commented on gene: ZNF423: ZNF423 was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) ZNF423 is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature, with biallelic/monoallelic inheritance.
Fetal anomalies v0.208 ROBO1 Rebecca Foulger Classified gene: ROBO1 as Green List (high evidence)
Fetal anomalies v0.208 ROBO1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green based on 3 probands reported in PMID:28592524 with ROBO loss of function variants and ventral septal heart defects.
Fetal anomalies v0.208 ROBO1 Rebecca Foulger Gene: robo1 has been classified as Green List (High Evidence).
Fetal anomalies v0.207 ROBO1 Rebecca Foulger commented on gene: ROBO1: Evidence for inclusion on the PAGE Additional gene list comes from a single study in Kruszka et al. (2017, PMID:28592524) but 3 families of different ethnicities; each proband had a ventricular septal defect, and one proband had tetralogy of Fallot. Plus proband 1 had craniofacial findings, consistent with the mouse model. VSD can be detected prenatally (e.g. see PMID:24456562) so is relevant for the panel.
Fetal anomalies v0.207 ROBO1 Rebecca Foulger commented on gene: ROBO1: ROBO1 was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880), ROBO1 is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature.
Fetal anomalies v0.207 ARL13B Rebecca Foulger Phenotypes for gene: ARL13B were changed from Joubert syndrome 8 612291 to Joubert syndrome 8, 612291
Fetal anomalies v0.206 ARL13B Rebecca Foulger Publications for gene: ARL13B were set to
Fetal anomalies v0.205 ARL13B Rebecca Foulger Classified gene: ARL13B as Green List (high evidence)
Fetal anomalies v0.205 ARL13B Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: ARL13B is on the Additional gene list in the PAGE paper (Lord et al., 2019, PMID:30712880) based on prenatal presentation of a phenotype in the literature. Sufficient (3 unrelated cases in OMIM (Pakistani, American, Tunisian) with homozygous or compound heterozygous variants in ARL13B in patients with a Joubert phenotype (from PMIDs 18674751 and 25138100). Plus functional evidence to support impairment of ARL13B protein function (PMID:29255182). Therefore sufficient evidence to support threshold for Green rating.
Fetal anomalies v0.205 ARL13B Rebecca Foulger Gene: arl13b has been classified as Green List (High Evidence).
Fetal anomalies v0.204 ARL13B Rebecca Foulger commented on gene: ARL13B: ARL13B was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) ARL13B is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature.

ARL13B is not currently associated with a disorder in DD-Gene2Phenotype but in OMIM is linked to the biallelic disorder Joubert syndrome 8, 612291.
Fetal anomalies v0.204 ADAMTS17 Rebecca Foulger Publications for gene: ADAMTS17 were set to 19836009; 22486325; 24940034
Fetal anomalies v0.203 ADAMTS17 Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype to match OMIM entry for MIM:613195
Fetal anomalies v0.203 ADAMTS17 Rebecca Foulger Phenotypes for gene: ADAMTS17 were changed from Weill-Marchesani-like syndrome 613195 to Weill-Marchesani 4 syndrome, recessive, 613195
Fetal anomalies v0.202 ADAMTS17 Rebecca Foulger Publications for gene: ADAMTS17 were set to
Fetal anomalies v0.201 ADAMTS17 Rebecca Foulger Classified gene: ADAMTS17 as Green List (high evidence)
Fetal anomalies v0.201 ADAMTS17 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: ADAMTS17 is listed as an Additional gene in the PAGE paper (Lord et al., 2019, PMID:30712880) and therefore fetally-relevant (phenotype includes short stature). For evidence, there are sufficient cases in OMIM (5 variants from 5 different families (3 families from PMID:19836009 and one each from PMIDs:22486325 and 24940034) to support a Green (diagnostic-grade) rating.
Fetal anomalies v0.201 ADAMTS17 Rebecca Foulger Gene: adamts17 has been classified as Green List (High Evidence).
Fetal anomalies v0.200 ADAMTS17 Rebecca Foulger commented on gene: ADAMTS17: ADAMTS17 was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) ADAMTS17 is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature.

ADAMTS17 is not currently associated with a disorder in DD-Gene2Phenotype but in OMIM is linked to the disorder 'Weill-Marchesani 4 syndrome, recessive, 613195).
Fetal anomalies v0.200 COG4 Rebecca Foulger Publications for gene: COG4 were set to
Fetal anomalies v0.199 COG4 Rebecca Foulger commented on gene: COG4: The evidence for Saul-Wilson syndrome (MIM:618150) comes from one 2018 paper (PMID:30290151): Ferreira et al. (PMID:30290151, 2018) identified 2 different de novo heterozygous vaiants in the COG4 gene in 14 individuals, c.1546G-A and c.1546G-C both of which give rise to an identical missense mutation (G516R). Functional analysis shows that a stable protein is produced and, despite Golgi collapse, glycosylation is relatively normal. Given the DD-G2P Disease confidence rating is 'probable' (March 2019), only a missense variant has been reported, and functional evidence doesn't yet show the effect of the protein alteration, I have kept the MOI for COG4 on the Fetal anomalies panel as biallelic (for the confirmed glycosylation disorder) and not included the monoallelic Saul-Wilson syndrome on the panel at this stage.
Fetal anomalies v0.199 COG4 Rebecca Foulger commented on gene: COG4: COG4 is Green on the fetal panel based on 'confirmed' rating for a biallelic glycosylation disorder (COG4-CDG) and expert clinical review. A probable gene:disease disorder also exists in DD-Gene2Phenotype: Saul-Wilson syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame, gain of function. DDG2P mode of inheritance: monoallelic.

Saul-Wilson syndrome is a rare form of primordial dwarfism with severe pre-and postnatal growth retardation, and characteristic facial and radiographic features (PMID:30290151). Fetal relevance was confirmed by Anna de Burca but the evidence requires further investigation before the MOI is expanded to include monoallelic variants.
Fetal anomalies v0.199 TTN Rebecca Foulger Classified gene: TTN as Green List (high evidence)
Fetal anomalies v0.199 TTN Rebecca Foulger Added comment: Comment on list classification: Rated as Green following confirmation from Anna de Burca as the following papers demonstrate a fetal relevance:
In PMID:29575618, six of the affecteds were diagnosed prenatally by fetal ultrasound.
In PMID:28040389 a fetal ultrasound reported Clubfoot.
In PMID:29691892 all 30 patients had prenatal or early onset hypotonia and/or congenital contractures. The authors state that: to date, 16 patients from 12 families with a recessive prenatal or infant onset form of titinopathy have been reported.
Fetal anomalies v0.199 TTN Rebecca Foulger Gene: ttn has been classified as Green List (High Evidence).
Fetal anomalies v0.198 TTN Rebecca Foulger gene: TTN was added
gene: TTN was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTN were set to 29575618; 28040389; 29691892
Phenotypes for gene: TTN were set to congenital titinopathy with arthrogryposis
Review for gene: TTN was set to GREEN
Added comment: TTN was reviewed on the DDG2P panel by Lucy Raymond with the comment: Biallelic LOF are congenital titinopathy with arthrogryposis and thus should be included. Rated 'possble' in DD-G2P for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' but there are sufficient published cases of congenital titinopathies (with or without a cardiac component) for a Green rating. Therefore have added TTN to the Fetal anomalies panel as a Green gene following confirmation by Anna de Burca.
Sources: Expert Review
Fetal anomalies v0.198 TTN Rebecca Foulger gene: TTN was added
gene: TTN was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTN were set to 29575618; 28040389; 29691892
Phenotypes for gene: TTN were set to congenital titinopathy with arthrogryposis
Review for gene: TTN was set to GREEN
Added comment: TTN was reviewed on the DDG2P panel by Lucy Raymond with the comment: Biallelic LOF are congenital titinopathy with arthrogryposis and thus should be included. Rated 'possble' in DD-G2P for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' but there are sufficient published cases of congenital titinopathies (with or without a cardiac component) for a Green rating. Therefore have added TTN to the Fetal anomalies panel as a Green gene following confirmation by Anna de Burca.
Sources: Expert Review
Fetal anomalies v0.197 DSTYK Rebecca Foulger commented on gene: DSTYK: Note that a new gene:disorder association was added to DDG2P in March 2019: Autosomal Recessive Complicated Spastic Paraparesis SPG23. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. Not yet included the spastic paraplegia phenotype (or biallelic inheritance) on this Fetal anomalies panel for DSTYK because the 3 families identified in PMID:28157540 have the same variant, and haplotype analysis suggests a Founder effect.
Fetal anomalies v0.197 VPS53 Rebecca Foulger commented on gene: VPS53: Updated rating from Amber to Green to match confirmed Disease confidence rating in DD-G2P for new disorder (Progressive cerebella-cerebral atrophy type 2). Phenotype requires clinical review for fetal relevance.
Fetal anomalies v0.197 FBXO11 Rebecca Foulger Tag watchlist tag was added to gene: FBXO11.
Fetal anomalies v0.197 FBXO11 Rebecca Foulger commented on gene: FBXO11: Added watchlist tag to reflect multiple Disease confidence ratings in DD-G2P for different disorders: Rated confirmed for Variable Neurodevelopmental Disorder. Rated possible for FBXO11 related intellectual disability.
Fetal anomalies v0.197 CACNA1E Rebecca Foulger commented on gene: CACNA1E: Added watchlist tag to reflect multiple Disease confidence ratings in DD-G2P for different disorders: Rated confirmed for Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. Rated probable for Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia.
Fetal anomalies v0.197 CACNA1E Rebecca Foulger Tag watchlist tag was added to gene: CACNA1E.
Fetal anomalies v0.197 SPTBN2 Rebecca Foulger Added comment: Comment on phenotypes: Added more informative phenotype description from OMIM (Spinocerebellar ataxia, autosomal recessive 14, 615386) as Gene2Phenotype names the disorder as SCA14.
Fetal anomalies v0.197 SPTBN2 Rebecca Foulger Phenotypes for gene: SPTBN2 were changed from SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386 to SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386
Fetal anomalies v0.196 SPTBN2 Rebecca Foulger Added comment: Comment on mode of inheritance: Two new disorders added to DD-G2P in March 2019, with different modes of inheritance: biallelic for SCA14, and monoallelic for Infantile ataxia with oculomotor and pyramidal signs. Set inheritance to 'biallelic' only because biallelic 'SCA14' disorder is confirmed, and monoallelic 'Infantile ataxia with oculomotor and pyramidal signs' disorder is probable.
Fetal anomalies v0.196 SPTBN2 Rebecca Foulger Mode of inheritance for gene: SPTBN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.195 SPTBN2 Rebecca Foulger commented on gene: SPTBN2: Added 'watchlist' tag to highlight multiple Disease confidence ratings in DD-G2P. Rated confirmed for biallelic SCA14. Rated probable for Infantile ataxia with oculomotor and pyramidal signs.
Fetal anomalies v0.195 SPTBN2 Rebecca Foulger Tag watchlist tag was added to gene: SPTBN2.
Fetal anomalies v0.195 SIM1 Rebecca Foulger commented on gene: SIM1: Added 'multifactorial' tag to represent the 'Mu/Multifactorial' component of the mode of inheritance reported in OMM (AR,AD,Mu).
Fetal anomalies v0.195 SIM1 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is confirmed for 'Severe obesity with neurobehavioral features', the MOI was missing in Gene2Phenotype at the time when SIM1 was added to the DDG2P panel. Set the inheritance to 'both monoallelic and biallelic' to match the AR,AD,Mu (Multifactorial) inheritance in OMIM for Obesity, severe (MIM:601665).
Fetal anomalies v0.195 SIM1 Rebecca Foulger Mode of inheritance for gene: SIM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.194 SIM1 Rebecca Foulger Tag multifactorial tag was added to gene: SIM1.
Fetal anomalies v0.194 C11orf70 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the Fetal anomalies panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063.
Fetal anomalies v0.194 C11orf70 Rebecca Foulger Mode of inheritance for gene: C11orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.193 C11orf70 Rebecca Foulger commented on gene: C11orf70: Added 'new-gene-name' tag: C11orf70 has a new gene symbol in HGNC: CFAP300.
Fetal anomalies v0.193 C11orf70 Rebecca Foulger Tag new-gene-name tag was added to gene: C11orf70.
Fetal anomalies v0.193 FBXO11 Rebecca Foulger reviewed gene: FBXO11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.193 CACNA1E Rebecca Foulger reviewed gene: CACNA1E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.193 TOP3A Rebecca Foulger reviewed gene: TOP3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.193 SUZ12 Rebecca Foulger reviewed gene: SUZ12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.193 SPTBN2 Rebecca Foulger reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.193 SIM1 Rebecca Foulger reviewed gene: SIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.193 SEPSECS Rebecca Foulger reviewed gene: SEPSECS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.193 DNAH9 Rebecca Foulger reviewed gene: DNAH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.193 C11orf70 Rebecca Foulger reviewed gene: C11orf70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.192 FBXO11 Rebecca Foulger gene: FBXO11 was added
gene: FBXO11 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXO11 were set to 30057029
Phenotypes for gene: FBXO11 were set to Variable Neurodevelopmental Disorder
Fetal anomalies v0.192 CACNA1E Rebecca Foulger gene: CACNA1E was added
gene: CACNA1E was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1E were set to 30849329
Phenotypes for gene: CACNA1E were set to Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias; Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
Mode of pathogenicity for gene: CACNA1E was set to Other - please provide details in the comments
Fetal anomalies v0.192 VPS53 Rebecca Foulger Source DD-Gene2Phenotype was added to VPS53.
Source Expert Review Green was added to VPS53.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.192 TOP3A Rebecca Foulger gene: TOP3A was added
gene: TOP3A was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOP3A were set to 30193137
Phenotypes for gene: TOP3A were set to Bloom Syndrome like Disorder
Fetal anomalies v0.192 SUZ12 Rebecca Foulger gene: SUZ12 was added
gene: SUZ12 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUZ12 were set to 30019515; 28229514
Phenotypes for gene: SUZ12 were set to Weaver-like overgrowth syndrome
Fetal anomalies v0.192 SPTBN2 Rebecca Foulger gene: SPTBN2 was added
gene: SPTBN2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN2 were set to 29196973; 28636205
Phenotypes for gene: SPTBN2 were set to SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386
Fetal anomalies v0.192 SIM1 Rebecca Foulger gene: SIM1 was added
gene: SIM1 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SIM1 was set to
Publications for gene: SIM1 were set to 28472148; 23778136; 23778139
Phenotypes for gene: SIM1 were set to Severe obesity with neurobehavioral features
Fetal anomalies v0.192 SEPSECS Rebecca Foulger gene: SEPSECS was added
gene: SEPSECS was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to 29464431; 26805434; 26888482
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D
Fetal anomalies v0.192 DNAH9 Rebecca Foulger gene: DNAH9 was added
gene: DNAH9 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH9 were set to 30471717; 30471718
Phenotypes for gene: DNAH9 were set to Motile Cilia Defects and Situs Inversus
Fetal anomalies v0.192 C11orf70 Rebecca Foulger gene: C11orf70 was added
gene: C11orf70 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: C11orf70 was set to
Publications for gene: C11orf70 were set to 29727693; 29727692
Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.191 POLR3A Rebecca Foulger Added comment: Comment on phenotypes: Added 'Wiedemann-Rautenstrauch syndrome' to the phenotypes because (based on the OMIM summary) the condition includes intrauterine growth retardation amongst the phenotypes, and is therefore fetally-relevant.
Fetal anomalies v0.191 POLR3A Rebecca Foulger Phenotypes for gene: POLR3A were changed from LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090 to LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090
Fetal anomalies v0.190 VPS53 Rebecca Foulger Publications for gene: VPS53 were set to 24577744; 12920088
Fetal anomalies v0.189 VPS53 Rebecca Foulger commented on gene: VPS53: VPS53 was added to the Fetal anomalies panel from the PAGE Additional Gene List (with rating: probable). New gene:disorder association added to DDG2P in March 2019: Progressive cerebella-cerebral atrophy type 2. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
Fetal anomalies v0.189 VPS53 Rebecca Foulger Phenotypes for gene: VPS53 were changed from PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851 to PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851; Progressive cerebella-cerebral atrophy type 2
Fetal anomalies v0.188 PCGF2 Rebecca Foulger Tag watchlist tag was added to gene: PCGF2.
Fetal anomalies v0.188 PCGF2 Rebecca Foulger commented on gene: PCGF2: Added 'watchlist' tag to reflect multiple Disease confidence ratings for different disorders in Gene2Phenotype: Rated probable for INTELLECTUAL DUSBILITY. Rated confirmed for Craniofacial Neurological Cardiovascular and Skeletal.
Fetal anomalies v0.188 PCGF2 Rebecca Foulger commented on gene: PCGF2: New gene:disorder association added to DDG2P in March 2019: Craniofacial Neurological Cardiovascular and Skeletal Features. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
Fetal anomalies v0.188 PCGF2 Rebecca Foulger Publications for gene: PCGF2 were set to
Fetal anomalies v0.187 PCGF2 Rebecca Foulger Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY to INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features
Fetal anomalies v0.186 C5orf42 Rebecca Foulger edited their review of gene: C5orf42: Added comment: Additional evidence from PMID:30712878: Homozgyous variant identified in C5orf42 (called CPLANE1 in Table 1) from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 TSC2 Rebecca Foulger edited their review of gene: TSC2: Added comment: Additional evidence from PMID:30712878: De novo variants identified in TSC2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 RERE Rebecca Foulger edited their review of gene: RERE: Added comment: Additional evidence from PMID:30712878: De novo variant identified in RERE from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 RASA1 Rebecca Foulger edited their review of gene: RASA1: Added comment: Additional evidence from PMID:30712878: Maternally inherited variant identified in RASA1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 FLVCR2 Rebecca Foulger edited their review of gene: FLVCR2: Added comment: Additional evidence from PMID:30712878: Compound heterozygous variants identified in FLVCR2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 ARMC9 Rebecca Foulger edited their review of gene: ARMC9: Added comment: Additional evidence from PMID:30712878: Homozygous variant identified in ARMC9 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 PKD2 Rebecca Foulger edited their review of gene: PKD2: Added comment: Additional evidence from PMID:30712878: Maternally inherited variant identified in PKD2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 ACTG2 Rebecca Foulger edited their review of gene: ACTG2: Added comment: Additional evidence from PMID:30712878: De novo variant identified in ACTG2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 L1CAM Rebecca Foulger edited their review of gene: L1CAM: Added comment: Additional evidence from PMID:30712878: Hemizgous variant identified in L1CAM in male fetus from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 FLNB Rebecca Foulger edited their review of gene: FLNB: Added comment: Additional evidence from PMID:30712878: De novo variant identified in FLNB from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 FLNA Rebecca Foulger edited their review of gene: FLNA: Added comment: Additional evidence from PMID:30712878: De novo variant identified in FLNA from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 FGFR3 Rebecca Foulger edited their review of gene: FGFR3: Added comment: Additional evidence from PMID:30712878: De novo variants identified in FGFR3 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 COL2A1 Rebecca Foulger edited their review of gene: COL2A1: Added comment: Additional evidence from PMID:30712878: De novo variant identified in COL2A1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 TMEM67 Rebecca Foulger edited their review of gene: TMEM67: Added comment: Additional evidence from PMID:30712878: Homozygous variant identified in TMEM67 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 SOS1 Rebecca Foulger edited their review of gene: SOS1: Added comment: Additional evidence from PMID:30712878: Paternal inherited variant identified in SOS1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 RIT1 Rebecca Foulger edited their review of gene: RIT1: Added comment: Additional evidence from PMID:30712878: De novo variant identified in RIT1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 RAPSN Rebecca Foulger edited their review of gene: RAPSN: Added comment: Additional evidence from PMID:30712878: Compound heterozygous variants identified in RAPSN from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 KMT2D Rebecca Foulger edited their review of gene: KMT2D: Added comment: Additional evidence from PMID:30712878: De novo variant identified in KMT2D from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 COL4A1 Rebecca Foulger edited their review of gene: COL4A1: Added comment: Additional evidence from PMID:30712878: De novo variant identified in COL4A1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.185 WDR19 Rebecca Foulger edited their review of gene: WDR19: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in WDR19 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 TUBA1A Rebecca Foulger edited their review of gene: TUBA1A: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in TUBA1A from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 TMEM67 Rebecca Foulger edited their review of gene: TMEM67: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in TMEM67 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 SOS1 Rebecca Foulger edited their review of gene: SOS1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in SOS1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 RYR1 Rebecca Foulger edited their review of gene: RYR1: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in RYR1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 RIT1 Rebecca Foulger edited their review of gene: RIT1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in RIT1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 RAPSN Rebecca Foulger edited their review of gene: RAPSN: Added comment: Additional evidence from PMID:30266093: AR/homozygous variant identified in RAPSN from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 PTPN11 Rebecca Foulger edited their review of gene: PTPN11: Added comment: Additional evidence from PMID:30266093: AD/de novo mosaic variant and AD/de novo het variant identified in PTPN11 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 PKD1L1 Rebecca Foulger edited their review of gene: PKD1L1: Added comment: Additional evidence from PMID:30266093: AR/homozygous variant identified in PKD1L1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 PEX1 Rebecca Foulger edited their review of gene: PEX1: Added comment: Additional evidence from PMID:30266093: AR/comound het variant identified in PEX1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 P3H1 Rebecca Foulger edited their review of gene: P3H1: Added comment: Additional evidence from PMID:30266093: AR/homozygous variant identified in P3H1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 NIPBL Rebecca Foulger edited their review of gene: NIPBL: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in NIPBL from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 MYH3 Rebecca Foulger edited their review of gene: MYH3: Added comment: Additional evidence from PMID:30266093: AD/inherited het (mosaic mother) variant identified in MYH3 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 MID1 Rebecca Foulger edited their review of gene: MID1: Added comment: Additional evidence from PMID:30266093: XL/hemizyogus (inherited from mildly affected mother) variant identified in MID1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 LAMC3 Rebecca Foulger edited their review of gene: LAMC3: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in LAMC3 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 KRAS Rebecca Foulger edited their review of gene: KRAS: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in KRAS from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 KMT2D Rebecca Foulger edited their review of gene: KMT2D: Added comment: Additional evidence from PMID:30266093: AD/de novo het, and AD/het variants identified in KMT2D from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 IFT80 Rebecca Foulger edited their review of gene: IFT80: Added comment: Additional evidence from PMID:30266093: AR/homozygous variant identified in IFT80 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 GLI3 Rebecca Foulger edited their review of gene: GLI3: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in GLI3 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 FBN1 Rebecca Foulger edited their review of gene: FBN1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in FBN1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 DYNC2H1 Rebecca Foulger edited their review of gene: DYNC2H1: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in DYNC2H1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 DVL1 Rebecca Foulger edited their review of gene: DVL1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in DVL1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 COL4A1 Rebecca Foulger edited their review of gene: COL4A1: Added comment: Additional evidence from PMID:30266093: AD/inherited het (mosaic mother) variant identified in COL4A1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 COL1A2 Rebecca Foulger edited their review of gene: COL1A2: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in COL1A2 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 COL1A1 Rebecca Foulger edited their review of gene: COL1A1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in COL1A1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 COL11A1 Rebecca Foulger edited their review of gene: COL11A1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in COL11A1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 CHRNG Rebecca Foulger edited their review of gene: CHRNG: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in CHRNG from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 C5orf42 Rebecca Foulger edited their review of gene: C5orf42: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in C5orf42 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 AR Rebecca Foulger edited their review of gene: AR: Added comment: Additional evidence from PMID:30266093: XL/hemizygous (maternally inherited) variant identified in AR from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 ALG12 Rebecca Foulger edited their review of gene: ALG12: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in ALG12 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 ADGRG6 Rebecca Foulger edited their review of gene: ADGRG6: Added comment: Additional evidence from PMID:30266093: AR/homozygous het variant identified in ADGRG6 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.184 IFITM5 Rebecca Foulger edited their review of gene: IFITM5: Added comment: Additional evidence from PMID:29595812: De novovariant identified in IFITM5 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.184 COL1A1 Rebecca Foulger edited their review of gene: COL1A1: Added comment: Additional evidence from PMID:29595812:Variants identified in COL1A1 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812). In one case, the variant is reported as a paternally-inherited VUS where no molecular diagnosis was made. In three cases the variants were De novo.; Changed publications: 29595812
Fetal anomalies v0.184 GDF5 Rebecca Foulger edited their review of gene: GDF5: Added comment: Additional evidence from PMID:29595812:Maternally-inherited variant (VUS) identified in GDF5 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812). No molecular diagnosis made.; Changed publications: 29595812
Fetal anomalies v0.184 RECQL4 Rebecca Foulger edited their review of gene: RECQL4: Added comment: Additional evidence from PMID:29595812:AR maternal variant identified in RECQL4 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812). No molecular diagnosis confirmed- single mutation in AR/recessive gene, suggestive of Baller-Gerold syndrome.; Changed publications: 29595812
Fetal anomalies v0.184 FGFR3 Rebecca Foulger edited their review of gene: FGFR3: Added comment: Additional evidence from PMID:29595812:De novo variant identified in FGFR3 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.184 EBP Rebecca Foulger edited their review of gene: EBP: Added comment: Additional evidence from PMID:29595812:De novo variant identified in EBP from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.184 WDR34 Rebecca Foulger edited their review of gene: WDR34: Added comment: Additional evidence from PMID:29595812:AR variant identified in WDR34 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.184 RBM8A Rebecca Foulger edited their review of gene: RBM8A: Added comment: Additional evidence from PMID:29595812:AR variant identified in RBM8A from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.184 P3H1 Rebecca Foulger edited their review of gene: P3H1: Added comment: Additional evidence from PMID:29595812:AR Bi-parental-inherited variant identified in P3H1 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.184 OBSL1 Rebecca Foulger edited their review of gene: OBSL1: Added comment: Additional evidence from PMID:29595812:AR Biparental-inherited variant identified in OBSL1 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.184 COL1A2 Rebecca Foulger edited their review of gene: COL1A2: Added comment: Additional evidence from PMID:29595812:AD maternally inherited variant identified in COL1A2 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.184 ALPL Rebecca Foulger edited their review of gene: ALPL: Added comment: Additional evidence from PMID:29595812:AD maternally inherited variant identified in ALPL from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.183 CHRNG Rebecca Foulger edited their review of gene: CHRNG: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous/Compound heterozygous variants identified in CHRNG from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 RAPSN Rebecca Foulger edited their review of gene: RAPSN: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in RAPSN from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 RAB23 Rebecca Foulger edited their review of gene: RAB23: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in RAB23 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 EVC2 Rebecca Foulger edited their review of gene: EVC2: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in EVC2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 DNAH11 Rebecca Foulger edited their review of gene: DNAH11: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in DNAH11 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 CCDC103 Rebecca Foulger edited their review of gene: CCDC103: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in CCDC103 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 B3GLCT Rebecca Foulger edited their review of gene: B3GLCT: Added comment: Additional evidence from PAGE study: Diagnostic Homozgyous variant identified in B3GLCT from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 RIT1 Rebecca Foulger edited their review of gene: RIT1: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in RIT1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 PTPN11 Rebecca Foulger edited their review of gene: PTPN11: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in PTPN11 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 KMT2D Rebecca Foulger edited their review of gene: KMT2D: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in KMT2D from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 FGFR3 Rebecca Foulger edited their review of gene: FGFR3: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in FGFR3 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 CHD7 Rebecca Foulger edited their review of gene: CHD7: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in CHD7 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 ZC4H2 Rebecca Foulger edited their review of gene: ZC4H2: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in ZC4H2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 TUBB Rebecca Foulger edited their review of gene: TUBB: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in TUBB from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 TFAP2A Rebecca Foulger edited their review of gene: TFAP2A: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in TFAP2A from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 TAB2 Rebecca Foulger edited their review of gene: TAB2: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in TAB2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 SOX9 Rebecca Foulger edited their review of gene: SOX9: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in SOX9 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 SOS1 Rebecca Foulger edited their review of gene: SOS1: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in SOS1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 SF3B4 Rebecca Foulger edited their review of gene: SF3B4: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in SF3B4 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 PIK3CA Rebecca Foulger edited their review of gene: PIK3CA: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in PIK3CA from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 NRAS Rebecca Foulger edited their review of gene: NRAS: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NRAS from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 NR2F2 Rebecca Foulger edited their review of gene: NR2F2: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NR2F2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 NIPBL Rebecca Foulger edited their review of gene: NIPBL: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NIPBL from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 NALCN Rebecca Foulger edited their review of gene: NALCN: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NALCN from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 MYCN Rebecca Foulger edited their review of gene: MYCN: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in MYCN from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 GATA4 Rebecca Foulger edited their review of gene: GATA4: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in GATA4 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 FLNB Rebecca Foulger edited their review of gene: FLNB: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in FLNB from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 EPHB4 Rebecca Foulger edited their review of gene: EPHB4: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in EPHB4 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 CDKN1C Rebecca Foulger edited their review of gene: CDKN1C: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in CDKN1C from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 BRAF Rebecca Foulger edited their review of gene: BRAF: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in BRAF from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 ARCN1 Rebecca Foulger edited their review of gene: ARCN1: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in ARCN1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 ANKRD11 Rebecca Foulger edited their review of gene: ANKRD11: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in ANKRD11 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 COL1A1 Rebecca Foulger edited their review of gene: COL1A1: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous varianst identified in COL1A1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 MID1 Rebecca Foulger edited their review of gene: MID1: Added comment: Additional evidence from PAGE study: Diagnostic Hemizygous variant identified in MID1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 RYR1 Rebecca Foulger edited their review of gene: RYR1: Added comment: Additional evidence from PAGE study: Diagnostic Compound heterozygous variants identified in RYR1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 PIEZO1 Rebecca Foulger edited their review of gene: PIEZO1: Added comment: Additional evidence from PAGE study: Diagnostic Compound heterozygous variants identified in PIEZO1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 DYNC2H1 Rebecca Foulger edited their review of gene: DYNC2H1: Added comment: Additional evidence from PAGE study: Diagnostic Compound heterozygous variants identified in DYNC2H1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 ACTB Rebecca Foulger edited their review of gene: ACTB: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 KMT2A Rebecca Foulger edited their review of gene: KMT2A: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 KIAA0586 Rebecca Foulger edited their review of gene: KIAA0586: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 ATRX Rebecca Foulger edited their review of gene: ATRX: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 MBTPS2 Rebecca Foulger edited their review of gene: MBTPS2: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 RECQL4 Rebecca Foulger edited their review of gene: RECQL4: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 NSD1 Rebecca Foulger edited their review of gene: NSD1: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 FLNA Rebecca Foulger edited their review of gene: FLNA: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 TUBA1A Rebecca Foulger edited their review of gene: TUBA1A: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.182 RAC1 Rebecca Foulger Publications for gene: RAC1 were set to
Fetal anomalies v0.181 RAC1 Rebecca Foulger commented on gene: RAC1: Additional evidence from PMID:30712878: De novo variant identified in RAC1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).
Fetal anomalies v0.181 SCN2A Rebecca Foulger Publications for gene: SCN2A were set to
Fetal anomalies v0.180 SCN2A Rebecca Foulger commented on gene: SCN2A: Additional evidence from PMID:30712878: De novo variant identified in SCN2A from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).
Fetal anomalies v0.180 HCCS Rebecca Foulger Publications for gene: HCCS were set to
Fetal anomalies v0.179 HCCS Rebecca Foulger commented on gene: HCCS: Additional evidence from PMID:30266093: XL/de novo het variant identified in HCCS from fetal exome sequencing in Normand et al., 2018 (PMID:30266093).
Fetal anomalies v0.179 DDX3X Rebecca Foulger Publications for gene: DDX3X were set to
Fetal anomalies v0.178 DDX3X Rebecca Foulger commented on gene: DDX3X: Additional evidence from PMID:30266093: XL, de novo het variant identified in DDX3X from fetal exome sequencing in Normand et al., 2018 (PMID:30266093).
Fetal anomalies v0.178 ACTA1 Rebecca Foulger Publications for gene: ACTA1 were set to
Fetal anomalies v0.177 ACTA1 Rebecca Foulger commented on gene: ACTA1: Additional evidence from PMID:30266093: AD/de novo het variant identified in ACTA1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).
Fetal anomalies v0.177 GBA Rebecca Foulger Publications for gene: GBA were set to
Fetal anomalies v0.176 GBA Rebecca Foulger commented on gene: GBA: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in GBA from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Fetal anomalies v0.176 TCTN2 Rebecca Foulger Publications for gene: TCTN2 were set to
Fetal anomalies v0.175 TCTN2 Rebecca Foulger commented on gene: TCTN2: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in TCTN2 from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Fetal anomalies v0.175 COQ9 Rebecca Foulger Publications for gene: COQ9 were set to
Fetal anomalies v0.174 COQ9 Rebecca Foulger commented on gene: COQ9: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in COQ9 from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Fetal anomalies v0.174 BCS1L Rebecca Foulger Publications for gene: BCS1L were set to
Fetal anomalies v0.173 BCS1L Rebecca Foulger commented on gene: BCS1L: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Fetal anomalies v0.173 PROK2 Rebecca Foulger Publications for gene: PROK2 were set to
Fetal anomalies v0.172 PROK2 Rebecca Foulger commented on gene: PROK2: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Fetal anomalies v0.172 PACS1 Rebecca Foulger Publications for gene: PACS1 were set to
Fetal anomalies v0.171 PACS1 Rebecca Foulger commented on gene: PACS1: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Fetal anomalies v0.171 ROBO1 Rebecca Foulger Publications for gene: ROBO1 were set to 28592524; 28485101
Fetal anomalies v0.170 ROBO1 Rebecca Foulger commented on gene: ROBO1: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Fetal anomalies v0.170 MECP2 Rebecca Foulger Publications for gene: MECP2 were set to
Fetal anomalies v0.169 MECP2 Rebecca Foulger commented on gene: MECP2: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Fetal anomalies v0.169 KCNQ2 Rebecca Foulger Publications for gene: KCNQ2 were set to
Fetal anomalies v0.168 KCNQ2 Rebecca Foulger commented on gene: KCNQ2: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Fetal anomalies v0.168 HYDIN Rebecca Foulger Publications for gene: HYDIN were set to
Fetal anomalies v0.167 HYDIN Rebecca Foulger commented on gene: HYDIN: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Fetal anomalies v0.167 SLC2A1 Rebecca Foulger Source Expert Review Red was added to SLC2A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 PPT1 Rebecca Foulger Source Expert Review Red was added to PPT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 QDPR Rebecca Foulger Source Expert Review Red was added to QDPR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 DLAT Rebecca Foulger Source Expert Review Red was added to DLAT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 TPP1 Rebecca Foulger Source Expert Review Red was added to TPP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 AUH Rebecca Foulger Source Expert Review Red was added to AUH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 EMD Rebecca Foulger Publications for gene EMD were changed from to 26247046
Fetal anomalies v0.167 TCN2 Rebecca Foulger Source Expert Review Red was added to TCN2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 TRAPPC2 Rebecca Foulger Source Expert Review Red was added to TRAPPC2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 IQSEC2 Rebecca Foulger Source Expert Review Red was added to IQSEC2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 HYDIN Rebecca Foulger Source Expert Review Red was added to HYDIN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 LAMP2 Rebecca Foulger Source Expert Review Red was added to LAMP2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 PPA2 Rebecca Foulger Source Expert Review Red was added to PPA2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 DSP Rebecca Foulger Publications for gene DSP were changed from to 30993396
Fetal anomalies v0.167 GAS8 Rebecca Foulger Source Expert Review Red was added to GAS8.
Publications for gene GAS8 were changed from to 30166424
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 CCDC65 Rebecca Foulger Source Expert Review Red was added to CCDC65.
Publications for gene CCDC65 were changed from to 30166424
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 CCNO Rebecca Foulger Source Expert Review Red was added to CCNO.
Publications for gene CCNO were changed from to 30166424
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 RSPH3 Rebecca Foulger Source Expert Review Red was added to RSPH3.
Publications for gene RSPH3 were changed from to 30166424
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 RSPH1 Rebecca Foulger Source Expert Review Red was added to RSPH1.
Publications for gene RSPH1 were changed from to 30166424
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 TBXAS1 Rebecca Foulger Source Expert Review Red was added to TBXAS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 AGPAT2 Rebecca Foulger Source Expert Review Red was added to AGPAT2.
Publications for gene AGPAT2 were changed from to 22902344
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 OTULIN Rebecca Foulger Source Expert Review Red was added to OTULIN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.166 UMPS Rebecca Foulger edited their review of gene: UMPS: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Although it is unclear which phenotype presents when, it is best to include on the panel.; Changed rating: GREEN
Fetal anomalies v0.166 SLC35C1 Rebecca Foulger edited their review of gene: SLC35C1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
Fetal anomalies v0.166 SLC2A1 Rebecca Foulger edited their review of gene: SLC2A1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 SLC25A20 Rebecca Foulger edited their review of gene: SLC25A20: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Although it is unclear which phenotype presents when, it is best to include on the panel.; Changed rating: GREEN
Fetal anomalies v0.166 PPT1 Rebecca Foulger edited their review of gene: PPT1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Microcephaly phenotype presents postnatally. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 QDPR Rebecca Foulger edited their review of gene: QDPR: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Although not explicitly stated, microcephaly is implied to be progressive. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 DLAT Rebecca Foulger edited their review of gene: DLAT: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Present early but microcephaly is acquired. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 TPP1 Rebecca Foulger edited their review of gene: TPP1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Probably won't present prenatally. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 TMEM165 Rebecca Foulger edited their review of gene: TMEM165: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: OMIM phenotypes include growth retardation, and most had short stature. Other features included dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia.; Changed rating: GREEN
Fetal anomalies v0.166 PTS Rebecca Foulger edited their review of gene: PTS: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
Fetal anomalies v0.166 AUH Rebecca Foulger edited their review of gene: AUH: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Progressive disorder with late onset (30yrs) in some patients. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 ASS1 Rebecca Foulger edited their review of gene: ASS1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
Fetal anomalies v0.166 SAMHD1 Rebecca Foulger edited their review of gene: SAMHD1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
Fetal anomalies v0.166 PSAP Rebecca Foulger edited their review of gene: PSAP: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
Fetal anomalies v0.166 ARSA Rebecca Foulger edited their review of gene: ARSA: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Can cause leukodystrophy.; Changed rating: GREEN
Fetal anomalies v0.166 EMD Rebecca Foulger edited their review of gene: EMD: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN; Changed publications: 26247046
Fetal anomalies v0.166 SMN1 Rebecca Foulger edited their review of gene: SMN1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
Fetal anomalies v0.166 TCN2 Rebecca Foulger edited their review of gene: TCN2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Post-natal onset. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 PHOX2B Rebecca Foulger edited their review of gene: PHOX2B: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Hirschsprung disease would present in infancy.; Changed rating: GREEN
Fetal anomalies v0.166 TRAPPC2 Rebecca Foulger edited their review of gene: TRAPPC2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Age of onset is 5-10 years. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 IQSEC2 Rebecca Foulger edited their review of gene: IQSEC2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 HYDIN Rebecca Foulger edited their review of gene: HYDIN: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019) plus email correspondance from Hannah Mitchison (UCL), there is fairly firm evidence that mutations in HYDIN cause PCD without laterality defects/Situs Invertis. Variant flagged as Potentially Clinically Useful from PAGE study. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 LAMP2 Rebecca Foulger edited their review of gene: LAMP2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Diagnosis is in childhood. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 PPA2 Rebecca Foulger edited their review of gene: PPA2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype is not morphological. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 DSP Rebecca Foulger edited their review of gene: DSP: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include because tooth agenesis can be detected prenatally.; Changed rating: GREEN; Changed publications: 30993396
Fetal anomalies v0.166 GAS8 Rebecca Foulger edited their review of gene: GAS8: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but highly unlikely to cause situs defects. According to PMID:30166424 (Best et al., 2019), GAS8 has not previously been associated with Situs defects in the literature. Plus email correspondance from Hannah Mitchison (UCL) that mutations in GAS8 are not associated with laterality defects, including in mice. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424
Fetal anomalies v0.166 CCDC65 Rebecca Foulger edited their review of gene: CCDC65: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but highly unlikely to cause situs defects. According to PMID:30166424 (Best et al., 2019), CCDC65 (DRC2) has not previously been associated with Situs defects in the literature. Plus email correspondance from Hannah Mitchison (UCL) that mutations in CCDC65/DRC2 are not associated with laterality defects, including in mice. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424
Fetal anomalies v0.166 CCNO Rebecca Foulger edited their review of gene: CCNO: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019) plus email correspondance from Hannah Mitchison (UCL), there is fairly firm evidence that mutations in CCNO cause PCD without laterality defects/Situs Invertis. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424
Fetal anomalies v0.166 RSPH3 Rebecca Foulger edited their review of gene: RSPH3: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019), RSPH3 has not previously been associated with Situs defects in the literature. Plus email correspondance from Hannah Mitchison (UCL) that there is fairly firm evidence that mutations in RSPH3 cause PCD without laterality defects/Situs Invertis. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424
Fetal anomalies v0.166 RSPH1 Rebecca Foulger edited their review of gene: RSPH1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019) plus email correspondance from Hannah Mitchison (UCL), there is fairly firm evidence that mutations in RSPH1 cause PCD without laterality defects/Situs Invertis. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424
Fetal anomalies v0.166 TBXAS1 Rebecca Foulger edited their review of gene: TBXAS1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Storage disorder. Progressive phenotype that presents later in childhood. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 AGPAT2 Rebecca Foulger edited their review of gene: AGPAT2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Lipodystrophy. No obvious pre-natal phenotype. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 22902344
Fetal anomalies v0.166 OTULIN Rebecca Foulger edited their review of gene: OTULIN: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Lipodystrophy. Early treatment could be helpful but no obvious detectable prenatal phenotype. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.165 SLC52A2 Rebecca Foulger Source Expert Review Red was added to SLC52A2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 UFC1 Rebecca Foulger Source Expert Review Red was added to UFC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 ZNF711 Rebecca Foulger Source Expert Review Red was added to ZNF711.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 ZFYVE26 Rebecca Foulger Source Expert Review Red was added to ZFYVE26.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 ZDHHC9 Rebecca Foulger Source Expert Review Red was added to ZDHHC9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 XPC Rebecca Foulger Source Expert Review Red was added to XPC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 XPA Rebecca Foulger Source Expert Review Red was added to XPA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 WDR45 Rebecca Foulger Source Expert Review Red was added to WDR45.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 WDR11 Rebecca Foulger Source Expert Review Red was added to WDR11.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 UVSSA Rebecca Foulger Source Expert Review Red was added to UVSSA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 UROS Rebecca Foulger Source Expert Review Red was added to UROS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 UROC1 Rebecca Foulger Source Expert Review Red was added to UROC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 UNC80 Rebecca Foulger Source Expert Review Red was added to UNC80.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 UGT1A1 Rebecca Foulger Source Expert Review Red was added to UGT1A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 UBE3A Rebecca Foulger Source Expert Review Red was added to UBE3A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TYRP1 Rebecca Foulger Source Expert Review Red was added to TYRP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TYR Rebecca Foulger Source Expert Review Red was added to TYR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TUSC3 Rebecca Foulger Source Expert Review Red was added to TUSC3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TSPAN7 Rebecca Foulger Source Expert Review Red was added to TSPAN7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TSHR Rebecca Foulger Source Expert Review Red was added to TSHR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TRPM1 Rebecca Foulger Source Expert Review Red was added to TRPM1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TMPRSS6 Rebecca Foulger Source Expert Review Red was added to TMPRSS6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TH Rebecca Foulger Source Expert Review Red was added to TH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TAT Rebecca Foulger Source Expert Review Red was added to TAT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SYP Rebecca Foulger Source Expert Review Red was added to SYP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SYNGAP1 Rebecca Foulger Source Expert Review Red was added to SYNGAP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SUCLG1 Rebecca Foulger Publications for gene SUCLG1 were changed from to 21093335
Fetal anomalies v0.165 STXBP1 Rebecca Foulger Source Expert Review Red was added to STXBP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 STS Rebecca Foulger Source Expert Review Red was added to STS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 STAG1 Rebecca Foulger Source Expert Review Red was added to STAG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SMPD1 Rebecca Foulger Source Expert Review Red was added to SMPD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC6A5 Rebecca Foulger Source Expert Review Red was added to SLC6A5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC6A3 Rebecca Foulger Source Expert Review Red was added to SLC6A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC6A1 Rebecca Foulger Source Expert Review Red was added to SLC6A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC5A5 Rebecca Foulger Source Expert Review Red was added to SLC5A5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC52A3 Rebecca Foulger Source Expert Review Red was added to SLC52A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC46A1 Rebecca Foulger Source Expert Review Red was added to SLC46A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC2A2 Rebecca Foulger Source Expert Review Red was added to SLC2A2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC25A15 Rebecca Foulger Source Expert Review Red was added to SLC25A15.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC22A5 Rebecca Foulger Source Expert Review Red was added to SLC22A5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC19A3 Rebecca Foulger Source Expert Review Red was added to SLC19A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SIK1 Rebecca Foulger Source Expert Review Red was added to SIK1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SCN8A Rebecca Foulger Source Expert Review Red was added to SCN8A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SCN2A Rebecca Foulger Source Expert Review Red was added to SCN2A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SCN1B Rebecca Foulger Source Expert Review Red was added to SCN1B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SCN1A Rebecca Foulger Source Expert Review Red was added to SCN1A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SCN11A Rebecca Foulger Source Expert Review Red was added to SCN11A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.164 WNT3 Rebecca Foulger Publications for gene: WNT3 were set to 14872406
Fetal anomalies v0.163 WNT3 Rebecca Foulger commented on gene: WNT3: Despite a disease confidence rating of 'confirmed' in DDG2P, there is limited evidence for the association of WNT3 with Tetra-Amelia syndrome: 2 fetuses from 1 consanguineous Turkish family were reported in PMID:14872406 (2004). PMID:16283889 and PMID:18837045 ruled out WNT3 as a cause for tetra-amelia in their cases.
Fetal anomalies v0.163 TRIM32 Rebecca Foulger Publications for gene: TRIM32 were set to
Fetal anomalies v0.162 SLX4 Rebecca Foulger Publications for gene: SLX4 were set to
Fetal anomalies v0.161 SLX4 Rebecca Foulger commented on gene: SLX4: Sufficient unrelated cases in OMIM supporting a link between SLX4 variants and Fanconi anaemia, including a Dutch boy and 3 German siblings from PMID:21240277, and a 15 year old Indian girl and a 22 year old male from PMID:21240275- the compound het variants in the 22 yr old male included a large genomic deletion.
Fetal anomalies v0.161 ZC4H2 Rebecca Foulger edited their review of gene: ZC4H2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SAMD9 Rebecca Foulger edited their review of gene: SAMD9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Note that MOI for AD may be GOF and associated AR condition is not fetally relevant.; Changed rating: GREEN
Fetal anomalies v0.161 SLC10A7 Rebecca Foulger edited their review of gene: SLC10A7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TRAF7 Rebecca Foulger edited their review of gene: TRAF7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SLC52A2 Rebecca Foulger edited their review of gene: SLC52A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC52A2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 STAG2 Rebecca Foulger edited their review of gene: STAG2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 UFC1 Rebecca Foulger edited their review of gene: UFC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UFC1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TRIP4 Rebecca Foulger commented on gene: TRIP4: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 TPM2 Rebecca Foulger edited their review of gene: TPM2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBX18 Rebecca Foulger commented on gene: TBX18: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 RBPJ Rebecca Foulger commented on gene: RBPJ: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 NOTCH1 Rebecca Foulger commented on gene: NOTCH1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 LGI4 Rebecca Foulger commented on gene: LGI4: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 GLDN Rebecca Foulger commented on gene: GLDN: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 EPHB4 Rebecca Foulger commented on gene: EPHB4: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 DOCK6 Rebecca Foulger commented on gene: DOCK6: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 CNTNAP1 Rebecca Foulger commented on gene: CNTNAP1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 CHRNA1 Rebecca Foulger edited their review of gene: CHRNA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 CFC1 Rebecca Foulger edited their review of gene: CFC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ARHGAP31 Rebecca Foulger commented on gene: ARHGAP31: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 ARCN1 Rebecca Foulger edited their review of gene: ARCN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 AKT3 Rebecca Foulger commented on gene: AKT3: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 TWIST2 Rebecca Foulger edited their review of gene: TWIST2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TCTN1 Rebecca Foulger edited their review of gene: TCTN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBC1D20 Rebecca Foulger edited their review of gene: TBC1D20: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 MAGEL2 Rebecca Foulger edited their review of gene: MAGEL2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 KMT2C Rebecca Foulger edited their review of gene: KMT2C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 IL11RA Rebecca Foulger edited their review of gene: IL11RA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 IFIH1 Rebecca Foulger edited their review of gene: IFIH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Change mode of inheritance back to monoallelic because both these conditions are AD inheritance- previous change to biallelic was most likely a misunderstanding.; Changed rating: GREEN
Fetal anomalies v0.161 ERCC4 Rebecca Foulger edited their review of gene: ERCC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 DNAH5 Rebecca Foulger edited their review of gene: DNAH5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ATAD3A Rebecca Foulger edited their review of gene: ATAD3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 PIEZO1 Rebecca Foulger edited their review of gene: PIEZO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ACTB Rebecca Foulger edited their review of gene: ACTB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 KYNU Rebecca Foulger edited their review of gene: KYNU: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 HAAO Rebecca Foulger edited their review of gene: HAAO: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ZNF711 Rebecca Foulger edited their review of gene: ZNF711: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Onset in childhood, progressive. Action taken: Demoted ZNF711 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 ZMPSTE24 Rebecca Foulger edited their review of gene: ZMPSTE24: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ZIC3 Rebecca Foulger edited their review of gene: ZIC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ZIC2 Rebecca Foulger edited their review of gene: ZIC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ZIC1 Rebecca Foulger edited their review of gene: ZIC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ZFYVE26 Rebecca Foulger edited their review of gene: ZFYVE26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Thin corpus callosum only. Onset in childhood, progressive. Action taken: Demoted ZFYVE26 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 ZEB2 Rebecca Foulger edited their review of gene: ZEB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ZDHHC9 Rebecca Foulger edited their review of gene: ZDHHC9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ZDHHC9 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 ZBTB20 Rebecca Foulger edited their review of gene: ZBTB20: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ZBTB18 Rebecca Foulger edited their review of gene: ZBTB18: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 YY1 Rebecca Foulger edited their review of gene: YY1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Phenotype is a bit non-specific, but various structural phenotypes have been reported.; Changed rating: GREEN
Fetal anomalies v0.161 XYLT1 Rebecca Foulger edited their review of gene: XYLT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 XRCC4 Rebecca Foulger edited their review of gene: XRCC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 XPC Rebecca Foulger edited their review of gene: XPC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted XPC gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 XPA Rebecca Foulger edited their review of gene: XPA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted XPA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 WT1 Rebecca Foulger edited their review of gene: WT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WNT7A Rebecca Foulger edited their review of gene: WNT7A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WNT5A Rebecca Foulger edited their review of gene: WNT5A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WNT10B Rebecca Foulger edited their review of gene: WNT10B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WNT1 Rebecca Foulger edited their review of gene: WNT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WDR62 Rebecca Foulger edited their review of gene: WDR62: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WDR60 Rebecca Foulger edited their review of gene: WDR60: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WDR45 Rebecca Foulger edited their review of gene: WDR45: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Iron deposition, doesn't seem to present prenatally. Action taken: Demoted WDR45 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 WDR35 Rebecca Foulger edited their review of gene: WDR35: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WDR34 Rebecca Foulger edited their review of gene: WDR34: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WDR26 Rebecca Foulger edited their review of gene: WDR26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Various structural brain malformations.; Changed rating: GREEN
Fetal anomalies v0.161 WDR11 Rebecca Foulger edited their review of gene: WDR11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted WDR11 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 WDPCP Rebecca Foulger edited their review of gene: WDPCP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 VSX2 Rebecca Foulger edited their review of gene: VSX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 VPS33B Rebecca Foulger edited their review of gene: VPS33B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 VLDLR Rebecca Foulger edited their review of gene: VLDLR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 VIPAS39 Rebecca Foulger edited their review of gene: VIPAS39: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 UVSSA Rebecca Foulger edited their review of gene: UVSSA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UVSSA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 UROS Rebecca Foulger edited their review of gene: UROS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UROS gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 UROC1 Rebecca Foulger edited their review of gene: UROC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UROC1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 UNC80 Rebecca Foulger edited their review of gene: UNC80: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UNC80 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 UGT1A1 Rebecca Foulger edited their review of gene: UGT1A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UGT1A1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 UBR1 Rebecca Foulger edited their review of gene: UBR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 UBE3B Rebecca Foulger edited their review of gene: UBE3B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 UBE3A Rebecca Foulger edited their review of gene: UBE3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UBE3A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TYRP1 Rebecca Foulger edited their review of gene: TYRP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TYRP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TYR Rebecca Foulger edited their review of gene: TYR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TYR gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TXNL4A Rebecca Foulger edited their review of gene: TXNL4A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TWIST1 Rebecca Foulger edited their review of gene: TWIST1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TUSC3 Rebecca Foulger edited their review of gene: TUSC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TUSC3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TUBGCP6 Rebecca Foulger edited their review of gene: TUBGCP6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TUBB2B Rebecca Foulger edited their review of gene: TUBB2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TUBB Rebecca Foulger edited their review of gene: TUBB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TUBA8 Rebecca Foulger edited their review of gene: TUBA8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TUBA1A Rebecca Foulger edited their review of gene: TUBA1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TTC8 Rebecca Foulger edited their review of gene: TTC8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TTC7A Rebecca Foulger edited their review of gene: TTC7A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TTC37 Rebecca Foulger edited their review of gene: TTC37: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TSPAN7 Rebecca Foulger edited their review of gene: TSPAN7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TSPAN7 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TSHR Rebecca Foulger edited their review of gene: TSHR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TSHR gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TSEN54 Rebecca Foulger edited their review of gene: TSEN54: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TSC2 Rebecca Foulger edited their review of gene: TSC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TSC1 Rebecca Foulger edited their review of gene: TSC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TRPS1 Rebecca Foulger edited their review of gene: TRPS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TRPM1 Rebecca Foulger edited their review of gene: TRPM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TRPM1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TRIP11 Rebecca Foulger edited their review of gene: TRIP11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TRIM37 Rebecca Foulger edited their review of gene: TRIM37: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TREX1 Rebecca Foulger edited their review of gene: TREX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TP63 Rebecca Foulger edited their review of gene: TP63: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TMPRSS6 Rebecca Foulger edited their review of gene: TMPRSS6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TMPRSS6 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TMEM5 Rebecca Foulger edited their review of gene: TMEM5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TMEM237 Rebecca Foulger edited their review of gene: TMEM237: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TINF2 Rebecca Foulger edited their review of gene: TINF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: CNS features.; Changed rating: GREEN
Fetal anomalies v0.161 THRA Rebecca Foulger edited their review of gene: THRA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 THOC6 Rebecca Foulger edited their review of gene: THOC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TH Rebecca Foulger edited their review of gene: TH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TH gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TGDS Rebecca Foulger edited their review of gene: TGDS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TFAP2A Rebecca Foulger edited their review of gene: TFAP2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TCTN3 Rebecca Foulger edited their review of gene: TCTN3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TCOF1 Rebecca Foulger edited their review of gene: TCOF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TCF4 Rebecca Foulger edited their review of gene: TCF4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TCF12 Rebecca Foulger edited their review of gene: TCF12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBX5 Rebecca Foulger edited their review of gene: TBX5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBX4 Rebecca Foulger edited their review of gene: TBX4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBX3 Rebecca Foulger edited their review of gene: TBX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBX20 Rebecca Foulger edited their review of gene: TBX20: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBX15 Rebecca Foulger edited their review of gene: TBX15: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBX1 Rebecca Foulger edited their review of gene: TBX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBCK Rebecca Foulger edited their review of gene: TBCK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBC1D24 Rebecca Foulger edited their review of gene: TBC1D24: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBC1D23 Rebecca Foulger edited their review of gene: TBC1D23: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TAZ Rebecca Foulger edited their review of gene: TAZ: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TAT Rebecca Foulger edited their review of gene: TAT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TAT gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TAB2 Rebecca Foulger edited their review of gene: TAB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SYP Rebecca Foulger edited their review of gene: SYP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted SYP gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SYNGAP1 Rebecca Foulger edited their review of gene: SYNGAP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted SYNGAP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SUCLG1 Rebecca Foulger edited their review of gene: SUCLG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Has presented prenatally (PMID:21093335); Changed rating: GREEN; Changed publications: 21093335
Fetal anomalies v0.161 STXBP1 Rebecca Foulger edited their review of gene: STXBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted STXBP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 STS Rebecca Foulger edited their review of gene: STS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Cutaneous patches only. Action taken: Demoted STS gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 STRA6 Rebecca Foulger edited their review of gene: STRA6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 STAR Rebecca Foulger edited their review of gene: STAR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 STAMBP Rebecca Foulger edited their review of gene: STAMBP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 STAG1 Rebecca Foulger edited their review of gene: STAG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted STAG1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SRY Rebecca Foulger edited their review of gene: SRY: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SRD5A3 Rebecca Foulger edited their review of gene: SRD5A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SRCAP Rebecca Foulger edited their review of gene: SRCAP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SPEG Rebecca Foulger edited their review of gene: SPEG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Severe phenotype with onset in infancy so assume contractures etc could present prenatally.; Changed rating: GREEN
Fetal anomalies v0.161 SPAG1 Rebecca Foulger edited their review of gene: SPAG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SOX3 Rebecca Foulger edited their review of gene: SOX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Structural pitiutary abnormalities reported.; Changed rating: GREEN
Fetal anomalies v0.161 SOX2 Rebecca Foulger edited their review of gene: SOX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SOX17 Rebecca Foulger edited their review of gene: SOX17: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SOS1 Rebecca Foulger edited their review of gene: SOS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SON Rebecca Foulger edited their review of gene: SON: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SNX14 Rebecca Foulger edited their review of gene: SNX14: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SNRPB Rebecca Foulger edited their review of gene: SNRPB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SMPD1 Rebecca Foulger edited their review of gene: SMPD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SMPD1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SMOC1 Rebecca Foulger edited their review of gene: SMOC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SMC3 Rebecca Foulger edited their review of gene: SMC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SMC1A Rebecca Foulger edited their review of gene: SMC1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SMARCB1 Rebecca Foulger edited their review of gene: SMARCB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SMARCA4 Rebecca Foulger edited their review of gene: SMARCA4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SLX4 Rebecca Foulger edited their review of gene: SLX4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: yes providing sufficient evidence.; Changed rating: GREEN
Fetal anomalies v0.161 SLC6A5 Rebecca Foulger edited their review of gene: SLC6A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC6A5 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC6A3 Rebecca Foulger edited their review of gene: SLC6A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC6A3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC6A1 Rebecca Foulger edited their review of gene: SLC6A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC6A1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC5A5 Rebecca Foulger edited their review of gene: SLC5A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC5A5 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC52A3 Rebecca Foulger edited their review of gene: SLC52A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC52A3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC46A1 Rebecca Foulger edited their review of gene: SLC46A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC46A1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC35D1 Rebecca Foulger edited their review of gene: SLC35D1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SLC33A1 Rebecca Foulger edited their review of gene: SLC33A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SLC2A2 Rebecca Foulger edited their review of gene: SLC2A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC2A2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC27A4 Rebecca Foulger edited their review of gene: SLC27A4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SLC26A2 Rebecca Foulger edited their review of gene: SLC26A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SLC25A24 Rebecca Foulger edited their review of gene: SLC25A24: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SLC25A15 Rebecca Foulger edited their review of gene: SLC25A15: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC25A15 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC22A5 Rebecca Foulger edited their review of gene: SLC22A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC22A5 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC19A3 Rebecca Foulger edited their review of gene: SLC19A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC19A3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC17A5 Rebecca Foulger edited their review of gene: SLC17A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Hydrops in infantile form.; Changed rating: GREEN
Fetal anomalies v0.161 SLC16A2 Rebecca Foulger edited their review of gene: SLC16A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SLC13A5 Rebecca Foulger edited their review of gene: SLC13A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SKI Rebecca Foulger edited their review of gene: SKI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SIX5 Rebecca Foulger edited their review of gene: SIX5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SIX3 Rebecca Foulger edited their review of gene: SIX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SIL1 Rebecca Foulger edited their review of gene: SIL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SIK1 Rebecca Foulger edited their review of gene: SIK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SIK1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SHOX Rebecca Foulger edited their review of gene: SHOX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SHOC2 Rebecca Foulger edited their review of gene: SHOC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SHH Rebecca Foulger edited their review of gene: SHH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SH3PXD2B Rebecca Foulger edited their review of gene: SH3PXD2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SF3B4 Rebecca Foulger edited their review of gene: SF3B4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SETBP1 Rebecca Foulger edited their review of gene: SETBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SEC23B Rebecca Foulger edited their review of gene: SEC23B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SDCCAG8 Rebecca Foulger edited their review of gene: SDCCAG8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SCN8A Rebecca Foulger edited their review of gene: SCN8A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN8A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SCN2A Rebecca Foulger edited their review of gene: SCN2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN2A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SCN1B Rebecca Foulger edited their review of gene: SCN1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN1B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SCN1A Rebecca Foulger edited their review of gene: SCN1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN1A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SCN11A Rebecca Foulger edited their review of gene: SCN11A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN11A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SCARF2 Rebecca Foulger edited their review of gene: SCARF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SC5D Rebecca Foulger edited their review of gene: SC5D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SATB2 Rebecca Foulger edited their review of gene: SATB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SALL4 Rebecca Foulger edited their review of gene: SALL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SALL1 Rebecca Foulger edited their review of gene: SALL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 RYR1 Rebecca Foulger edited their review of gene: RYR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.160 WNT3 Rebecca Foulger Publications for gene: WNT3 were set to
Fetal anomalies v0.159 TBX22 Rebecca Foulger Publications for gene: TBX22 were set to
Fetal anomalies v0.158 TBX22 Rebecca Foulger Added comment: Comment on phenotypes: Added '?Abruzzo-Erickson syndrome, 302905' based on OMIM and clinical review that Abruzzo-Erickson syndrome phenotype is clinically relevant. Kept the question-mark because evidence for this gene:disease association is limited (1 family reported in Pauws et al., 2013 (PMID:22784330).
Fetal anomalies v0.158 TBX22 Rebecca Foulger Phenotypes for gene: TBX22 were changed from CLEFT PALATE, X-LINKED to CLEFT PALATE, X-LINKED; ?Abruzzo-Erickson syndrome, 302905
Fetal anomalies v0.157 SAMD9 Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of inheritance as 'monoallelic' following review of the gene by Anna de Burca (Genomics England) and Rhiannon Mellis (GOSH) in March 2019. They note that the associated AR condition (Tumoral calcinosis, familial, normophosphatemic, MIM:610455) is not fetally relevant.
Fetal anomalies v0.157 SAMD9 Rebecca Foulger Mode of inheritance for gene: SAMD9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.156 SAMD9 Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed the Mode of Pathogenicity to 'Other' following review of the gene by Anna de Burca (Genomics England) and Rhiannon Mellis (GOSH) in March 2019. They note that the AD inheritance may be gain-of-function.
Fetal anomalies v0.156 SAMD9 Rebecca Foulger Mode of pathogenicity for gene: SAMD9 was changed from to Other
Fetal anomalies v0.155 IFIH1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI back to 'monoallelic' following review by Anna de Burca (Genomics England) and Rhiannon Mellis (GOSH) in March 2019: both associated disorders (Aicardi-Goutieres syndrome 7 and 'Singleton-Merten syndrome 1) have monoallelic inheritance. The original switch to biallelic inheritance was probably due to a misunderstanding.
Fetal anomalies v0.155 IFIH1 Rebecca Foulger Mode of inheritance for gene: IFIH1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.154 RETREG1 Rebecca Foulger Source Expert Review Red was added to RETREG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 RARS2 Rebecca Foulger Publications for gene RARS2 were changed from to 26083569
Fetal anomalies v0.154 PYGL Rebecca Foulger Source Expert Review Red was added to PYGL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PURA Rebecca Foulger Source Expert Review Red was added to PURA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PTCHD1 Rebecca Foulger Source Expert Review Red was added to PTCHD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PRDM12 Rebecca Foulger Source Expert Review Red was added to PRDM12.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PDE6G Rebecca Foulger Source Expert Review Red was added to PDE6G.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PCDH19 Rebecca Foulger Source Expert Review Red was added to PCDH19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PCCB Rebecca Foulger Source Expert Review Red was added to PCCB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PCCA Rebecca Foulger Source Expert Review Red was added to PCCA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PCBD1 Rebecca Foulger Source Expert Review Red was added to PCBD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PAX9 Rebecca Foulger Source Expert Review Red was added to PAX9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PAK3 Rebecca Foulger Publications for gene PAK3 were changed from to 24556213
Fetal anomalies v0.154 PAH Rebecca Foulger Source Expert Review Red was added to PAH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 OXCT1 Rebecca Foulger Source Expert Review Red was added to OXCT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 OTOGL Rebecca Foulger Source Expert Review Red was added to OTOGL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 OTC Rebecca Foulger Source Expert Review Red was added to OTC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.153 RNU4ATAC Rebecca Foulger edited their review of gene: RNU4ATAC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RNASET2 Rebecca Foulger edited their review of gene: RNASET2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RMRP Rebecca Foulger edited their review of gene: RMRP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Rhizomelic limb shortening.; Changed rating: GREEN
Fetal anomalies v0.153 RFX6 Rebecca Foulger edited their review of gene: RFX6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RETREG1 Rebecca Foulger edited their review of gene: RETREG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted RETREG1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 RERE Rebecca Foulger edited their review of gene: RERE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RELN Rebecca Foulger edited their review of gene: RELN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RECQL4 Rebecca Foulger edited their review of gene: RECQL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RBM8A Rebecca Foulger edited their review of gene: RBM8A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RAX Rebecca Foulger edited their review of gene: RAX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RASA1 Rebecca Foulger edited their review of gene: RASA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RARS2 Rebecca Foulger edited their review of gene: RARS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN; Changed publications: 26083569
Fetal anomalies v0.153 RARB Rebecca Foulger edited their review of gene: RARB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RAI1 Rebecca Foulger edited their review of gene: RAI1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RAF1 Rebecca Foulger edited their review of gene: RAF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RAD21 Rebecca Foulger edited their review of gene: RAD21: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Also one family reported with biallelic inheritance, Mungan syndrome (MIM:611376).; Changed rating: GREEN
Fetal anomalies v0.153 RAB3GAP2 Rebecca Foulger edited their review of gene: RAB3GAP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RAB3GAP1 Rebecca Foulger edited their review of gene: RAB3GAP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RAB23 Rebecca Foulger edited their review of gene: RAB23: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RAB18 Rebecca Foulger edited their review of gene: RAB18: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 QRICH1 Rebecca Foulger edited their review of gene: QRICH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Only 5 cases reported so far so phenotype is not that well-characterised yet. Some dysmorphic features may be detectable prenatally- one case had IUGR, and another had severe microcephaly.; Changed rating: GREEN
Fetal anomalies v0.153 PYGL Rebecca Foulger edited their review of gene: PYGL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PYGL gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PYCR1 Rebecca Foulger edited their review of gene: PYCR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: An unpublished case presented with IUGR, Microcephaly, hydronephrosis, echogenic kidney, hypoplastic nasal bone. Long bones short and bowed, ambigious genitalia, megalourethra, thickened bladder wall. OMIM phenotypes include IUGR, microcephaly, long bone bowing and agenesis of the corpus callosum (ACC).; Changed rating: GREEN
Fetal anomalies v0.153 PURA Rebecca Foulger edited their review of gene: PURA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Nothing structural- delayed/hypomyelination only. Action taken: Demoted PURA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PUF60 Rebecca Foulger edited their review of gene: PUF60: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PTH1R Rebecca Foulger edited their review of gene: PTH1R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PTF1A Rebecca Foulger edited their review of gene: PTF1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PTDSS1 Rebecca Foulger edited their review of gene: PTDSS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PTCHD1 Rebecca Foulger edited their review of gene: PTCHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted PTCHD1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PTCH1 Rebecca Foulger edited their review of gene: PTCH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PSPH Rebecca Foulger edited their review of gene: PSPH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Neu-Laxova syndrome would present prenatally, but probably not the milder Phosphoserine phosphatase deficiency.; Changed rating: GREEN
Fetal anomalies v0.153 PRDM12 Rebecca Foulger edited their review of gene: PRDM12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PRDM12 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PQBP1 Rebecca Foulger edited their review of gene: PQBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PPP2R5D Rebecca Foulger edited their review of gene: PPP2R5D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Could present as ventriculomegaly.; Changed rating: GREEN
Fetal anomalies v0.153 PPP2R1A Rebecca Foulger edited their review of gene: PPP2R1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PPP1CB Rebecca Foulger edited their review of gene: PPP1CB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 POU1F1 Rebecca Foulger edited their review of gene: POU1F1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PORCN Rebecca Foulger edited their review of gene: PORCN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PGAP2 Rebecca Foulger edited their review of gene: PGAP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX7 Rebecca Foulger edited their review of gene: PEX7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX6 Rebecca Foulger edited their review of gene: PEX6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX5 Rebecca Foulger edited their review of gene: PEX5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX3 Rebecca Foulger edited their review of gene: PEX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX26 Rebecca Foulger edited their review of gene: PEX26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX2 Rebecca Foulger edited their review of gene: PEX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX19 Rebecca Foulger edited their review of gene: PEX19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX16 Rebecca Foulger edited their review of gene: PEX16: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX13 Rebecca Foulger edited their review of gene: PEX13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX11B Rebecca Foulger edited their review of gene: PEX11B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX10 Rebecca Foulger edited their review of gene: PEX10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PDGFRB Rebecca Foulger edited their review of gene: PDGFRB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PDE6G Rebecca Foulger edited their review of gene: PDE6G: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PDE6G gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PDE4D Rebecca Foulger edited their review of gene: PDE4D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Midface hypoplasia and severe brachydactyly.; Changed rating: GREEN
Fetal anomalies v0.153 PCYT1A Rebecca Foulger edited their review of gene: PCYT1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PCNT Rebecca Foulger edited their review of gene: PCNT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PCDH19 Rebecca Foulger edited their review of gene: PCDH19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted PCDH19 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PCCB Rebecca Foulger edited their review of gene: PCCB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Probably all features are secondary to the metabolite accumulation postnatally. Action taken: Demoted PCCB gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PCCA Rebecca Foulger edited their review of gene: PCCA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Probably all features are secondary to the metabolite accumulation postnatally. Action taken: Demoted PCCA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PCBD1 Rebecca Foulger edited their review of gene: PCBD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PCBD1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PAX9 Rebecca Foulger edited their review of gene: PAX9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PAX9 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PAX3 Rebecca Foulger edited their review of gene: PAX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PAX2 Rebecca Foulger edited their review of gene: PAX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PARN Rebecca Foulger edited their review of gene: PARN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Cerebellar hypoplasia.; Changed rating: GREEN
Fetal anomalies v0.153 PAPSS2 Rebecca Foulger edited their review of gene: PAPSS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PALB2 Rebecca Foulger edited their review of gene: PALB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PAK3 Rebecca Foulger edited their review of gene: PAK3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN; Changed publications: 24556213
Fetal anomalies v0.153 PAH Rebecca Foulger edited their review of gene: PAH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural abnormalities. Action taken: Demoted PAH gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PAFAH1B1 Rebecca Foulger edited their review of gene: PAFAH1B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 P3H1 Rebecca Foulger edited their review of gene: P3H1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 OXCT1 Rebecca Foulger edited their review of gene: OXCT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype is ketoacidosis, nothing structural. Action taken: Demoted OXCT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 OTX2 Rebecca Foulger edited their review of gene: OTX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 OTOGL Rebecca Foulger edited their review of gene: OTOGL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotypes aren't structural (Nonsyndromic sensorineural deafness). Action taken: Demoted OTOGL gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 OTC Rebecca Foulger edited their review of gene: OTC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotypes are not structural- entirely metabolic and only presents when feeding begins. Action taken: Demoted OTC gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 ORC6 Rebecca Foulger edited their review of gene: ORC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 ORC4 Rebecca Foulger edited their review of gene: ORC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 ORC1 Rebecca Foulger edited their review of gene: ORC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 OPHN1 Rebecca Foulger edited their review of gene: OPHN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 OCRL Rebecca Foulger edited their review of gene: OCRL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 OBSL1 Rebecca Foulger edited their review of gene: OBSL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.152 COL6A2 Rebecca Foulger commented on gene: COL6A2: COL6A2 was added to the panel from the Additional PAGE list, where it is listed with both monoallelic and biallelic inheritance and Confirmed DD-G2P ratings for both. In OMIM, inheritance is listed as 'AR and AD' for both 'Bethlem myopathy 1, 158810' and 'Ullrich congenital muscular dystrophy 1, 254090'
Fetal anomalies v0.152 STAT1 Rebecca Foulger commented on gene: STAT1: STAT1 was originally added to the Fetal anomalies panel, based on inclusion in the PAGE list. However, at the time of curation and review (April 2nd 2019), STAT1 is not listed on the DD-Gene2Phenotype panel.
Fetal anomalies v0.152 POLR3A Rebecca Foulger Added comment: Comment on phenotypes: New gene:disorder association added to DDG2P on 27/03/2019 (after expert clinical review of POLR3A on Fetal anomalies panel): Autosomal Recessive Wiedemann Rautenstrauch Syndrome. DDG2P Disease confidence for Wiedemann Rautenstrauch Syndrome: confirmed. DDG2P mode of pathogenicity/mutation consequence for Wiedemann Rautenstrauch Syndrome: loss of function. DDG2P mode of inheritance for Wiedemann Rautenstrauch Syndrome: biallelic.
Fetal anomalies v0.152 POLR3A Rebecca Foulger Phenotypes for gene: POLR3A were changed from LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM to LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090
Fetal anomalies v0.151 RTN4IP1 Rebecca Foulger Source Expert Review Red was added to RTN4IP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.151 RSPO4 Rebecca Foulger Source Expert Review Red was added to RSPO4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.151 PSMB8 Rebecca Foulger Source Expert Review Red was added to PSMB8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.151 PRSS12 Rebecca Foulger Source Expert Review Red was added to PRSS12.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.151 PRRT2 Rebecca Foulger Source Expert Review Red was added to PRRT2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.151 PRPS1 Rebecca Foulger Source Expert Review Red was added to PRPS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.151 PROP1 Rebecca Foulger Source Expert Review Red was added to PROP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.151 POC1B Rebecca Foulger Source Expert Review Red was added to POC1B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.151 PMS2 Rebecca Foulger Source Expert Review Red was added to PMS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.150 RUNX2 Rebecca Foulger edited their review of gene: RUNX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 RTN4IP1 Rebecca Foulger edited their review of gene: RTN4IP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted RTN4IP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 RTEL1 Rebecca Foulger edited their review of gene: RTEL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 RSPO4 Rebecca Foulger edited their review of gene: RSPO4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted RSPO4 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 RPS6KA3 Rebecca Foulger edited their review of gene: RPS6KA3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 RPS19 Rebecca Foulger edited their review of gene: RPS19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 RPGRIP1L Rebecca Foulger edited their review of gene: RPGRIP1L: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 ROR2 Rebecca Foulger edited their review of gene: ROR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Leave inheritance as both monoallelic and biallelic.; Changed rating: GREEN
Fetal anomalies v0.150 PSMB8 Rebecca Foulger edited their review of gene: PSMB8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PSMB8 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 PRSS56 Rebecca Foulger edited their review of gene: PRSS56: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PRSS12 Rebecca Foulger edited their review of gene: PRSS12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PRSS12 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 PRRT2 Rebecca Foulger edited their review of gene: PRRT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotypes are not structural. Action taken: Demoted PRRT2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 PRPS1 Rebecca Foulger edited their review of gene: PRPS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Seems progressive. Action taken: Demoted PRPS1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 PROP1 Rebecca Foulger edited their review of gene: PROP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PROP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 PRKD1 Rebecca Foulger edited their review of gene: PRKD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PRKAR1A Rebecca Foulger edited their review of gene: PRKAR1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Would also explain Myxoma, intracardiac (MIM:255960).; Changed rating: GREEN
Fetal anomalies v0.150 POMT2 Rebecca Foulger edited their review of gene: POMT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 POMT1 Rebecca Foulger edited their review of gene: POMT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 POMGNT2 Rebecca Foulger edited their review of gene: POMGNT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 POMGNT1 Rebecca Foulger edited their review of gene: POMGNT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 POLR3A Rebecca Foulger edited their review of gene: POLR3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 POLR1D Rebecca Foulger edited their review of gene: POLR1D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 POLR1C Rebecca Foulger edited their review of gene: POLR1C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 POC1B Rebecca Foulger edited their review of gene: POC1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted POC1B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 POC1A Rebecca Foulger edited their review of gene: POC1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PMS2 Rebecca Foulger edited their review of gene: PMS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Associated with Lynch syndrome, which confers an increased risk of cancers, particularly colorectal cancer. Action taken: Demoted PMS2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 PMM2 Rebecca Foulger edited their review of gene: PMM2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PLOD2 Rebecca Foulger edited their review of gene: PLOD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PLOD1 Rebecca Foulger edited their review of gene: PLOD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PLK4 Rebecca Foulger edited their review of gene: PLK4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PKHD1 Rebecca Foulger edited their review of gene: PKHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PKD1L1 Rebecca Foulger edited their review of gene: PKD1L1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PITX3 Rebecca Foulger edited their review of gene: PITX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PITX2 Rebecca Foulger edited their review of gene: PITX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PIK3R1 Rebecca Foulger edited their review of gene: PIK3R1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PIGV Rebecca Foulger edited their review of gene: PIGV: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PIGT Rebecca Foulger edited their review of gene: PIGT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PIGO Rebecca Foulger edited their review of gene: PIGO: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PIGL Rebecca Foulger edited their review of gene: PIGL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PIGA Rebecca Foulger edited their review of gene: PIGA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PIEZO2 Rebecca Foulger edited their review of gene: PIEZO2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PHGDH Rebecca Foulger edited their review of gene: PHGDH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PHF8 Rebecca Foulger edited their review of gene: PHF8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PHF6 Rebecca Foulger edited their review of gene: PHF6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PGM1 Rebecca Foulger edited their review of gene: PGM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PGAP3 Rebecca Foulger edited their review of gene: PGAP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Cleft in some patients.; Changed rating: GREEN
Fetal anomalies v0.149 ROR2 Rebecca Foulger commented on gene: ROR2: In the original PAGE file, Mode of Inheritance is recorded as Biallelic for 'ROR2-RELATED DISORDERS AR', and Monoallelic for 'BRACHYDACTYLY, TYPE B1' and 'ROBINOW SYNDROME, AUTOSOMAL DOMINANT'. All three disorders have 'Confirmed' gene:disease associations with 'Loss of function' mode-of-pathogenicity.
Fetal anomalies v0.149 TIMM8A Rebecca Foulger Source Expert Review Red was added to TIMM8A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 THAP1 Rebecca Foulger Source Expert Review Red was added to THAP1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 SYNE1 Rebecca Foulger Source Expert Review Red was added to SYNE1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 SPTLC2 Rebecca Foulger Source Expert Review Red was added to SPTLC2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 SMCHD1 Rebecca Foulger Source Expert Review Green was added to SMCHD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 SMAD4 Rebecca Foulger Source Expert Review Green was added to SMAD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 SLC4A11 Rebecca Foulger Source Expert Review Red was added to SLC4A11.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 SLC4A1 Rebecca Foulger Source Expert Review Red was added to SLC4A1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 POLD1 Rebecca Foulger Source Expert Review Red was added to POLD1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 PDCD10 Rebecca Foulger Source Expert Review Green was added to PDCD10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 NR5A1 Rebecca Foulger Source Expert Review Green was added to NR5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 MYO7A Rebecca Foulger Source Expert Review Red was added to MYO7A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 MYH8 Rebecca Foulger Source Expert Review Green was added to MYH8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 LMNA Rebecca Foulger Source Expert Review Green was added to LMNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 KRIT1 Rebecca Foulger Source Expert Review Green was added to KRIT1.
Publications for gene KRIT1 were changed from to 28749478
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 KIT Rebecca Foulger Source Expert Review Red was added to KIT.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 KCNE1 Rebecca Foulger Source Expert Review Red was added to KCNE1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 KARS Rebecca Foulger Source Expert Review Red was added to KARS.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 FAM161A Rebecca Foulger Source Expert Review Red was added to FAM161A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 COL4A2 Rebecca Foulger Source Expert Review Green was added to COL4A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 COL4A1 Rebecca Foulger Source Expert Review Green was added to COL4A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 CLN6 Rebecca Foulger Source Expert Review Red was added to CLN6.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 CISD2 Rebecca Foulger Source Expert Review Red was added to CISD2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 CDH1 Rebecca Foulger Source Expert Review Green was added to CDH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 BRCA1 Rebecca Foulger Source Expert Review Red was added to BRCA1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 ATP1A3 Rebecca Foulger Source Expert Review Red was added to ATP1A3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 AR Rebecca Foulger Source Expert Review Green was added to AR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 ALDOB Rebecca Foulger Source Expert Review Red was added to ALDOB.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 AIRE Rebecca Foulger Source Expert Review Red was added to AIRE.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 AGXT Rebecca Foulger Source Expert Review Red was added to AGXT.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 ACTA2 Rebecca Foulger Source Expert Review Green was added to ACTA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.149 ACADS Rebecca Foulger Source Expert Review Red was added to ACADS.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.149 AMER1 Rebecca Foulger Source Expert Review Green was added to AMER1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.148 TIMM8A Rebecca Foulger edited their review of gene: TIMM8A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted TIMM8A gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 THAP1 Rebecca Foulger edited their review of gene: THAP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted THAP1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 SYNE1 Rebecca Foulger edited their review of gene: SYNE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SYNE1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 SPTLC2 Rebecca Foulger edited their review of gene: SPTLC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SPTLC2 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 SMCHD1 Rebecca Foulger edited their review of gene: SMCHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted SMCHD1 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 SMAD4 Rebecca Foulger edited their review of gene: SMAD4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted SMAD4 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 SLC4A11 Rebecca Foulger edited their review of gene: SLC4A11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SLC4A11 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 SLC4A1 Rebecca Foulger edited their review of gene: SLC4A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SLC4A1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 POLD1 Rebecca Foulger edited their review of gene: POLD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Does not seem to have evidence for prenatal presentation, and risk of cancer predisposition as an incidental finding. Action taken: Demoted POLD1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 PDCD10 Rebecca Foulger edited their review of gene: PDCD10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted PDCD10 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 NR5A1 Rebecca Foulger edited their review of gene: NR5A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted NR5A1 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 MYO7A Rebecca Foulger edited their review of gene: MYO7A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Nothing structural that would present in a fetus. Action taken: Demoted KIT gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 MYH8 Rebecca Foulger edited their review of gene: MYH8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted MYH8 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 LMNA Rebecca Foulger edited their review of gene: LMNA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted LMNA gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 KRIT1 Rebecca Foulger edited their review of gene: KRIT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. One case has been reported for a Biallelic variant in this gene prenatally, for a different phenotype (PMID: 28749478). Action taken: Promoted KRIT1 gene rating from Amber to Green.; Changed rating: GREEN; Changed publications: 28749478
Fetal anomalies v0.148 KIT Rebecca Foulger edited their review of gene: KIT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted KIT gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 KCNE1 Rebecca Foulger edited their review of gene: KCNE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted KCNE1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 KARS Rebecca Foulger edited their review of gene: KARS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted KARS gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 FAM161A Rebecca Foulger edited their review of gene: FAM161A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted FAM161A gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 COL4A2 Rebecca Foulger edited their review of gene: COL4A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted COL4A2 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 COL4A1 Rebecca Foulger edited their review of gene: COL4A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted COL4A1 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 CLN6 Rebecca Foulger edited their review of gene: CLN6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted CLN6 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 CISD2 Rebecca Foulger edited their review of gene: CISD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted CISD2 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 CDH1 Rebecca Foulger edited their review of gene: CDH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Obvious structural phenotype. Action taken: Promoted CDH1 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 BRCA1 Rebecca Foulger edited their review of gene: BRCA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Limited evidence. Action taken: Demoted BRCA1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 ATP1A3 Rebecca Foulger edited their review of gene: ATP1A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted ATP1A3 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 AR Rebecca Foulger edited their review of gene: AR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. STRs are NOT to be reported. Action taken: Promoted AR gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 ALDOB Rebecca Foulger edited their review of gene: ALDOB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted ALDOB gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 AIRE Rebecca Foulger edited their review of gene: AIRE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Would not present fetally. Action taken: Demoted AIRE gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 AGXT Rebecca Foulger edited their review of gene: AGXT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted AGXT gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 ACTA2 Rebecca Foulger edited their review of gene: ACTA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Moyamoya disease could present on an MRI. Action taken: Promoted ACTA2 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.148 ACADS Rebecca Foulger edited their review of gene: ACADS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Would not present fetally. Action taken: Demoted ACADS gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.148 AMER1 Rebecca Foulger edited their review of gene: AMER1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Include because causes an important phenotype. Action taken: Promoted AMER1 gene rating from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.147 LRP5 Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, mode of inheritance was recorded as biallelic for 'OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME' and monoallelic for 'HIGH BONE MASS TRAIT', 'OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1', 'ENDOSTEAL HYPEROSTOSIS WORTH TYPE' and 'VITREORETINOPATHY EXUDATIVE TYPE 4'. Changed inheritance to 'biallelic' only following clinical review.
Fetal anomalies v0.147 LRP5 Rebecca Foulger Mode of inheritance for gene: LRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.146 IKBKG Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to X-linked dominant after clinical review so that both X-linked dominant and X-linked recessive inheritance would be picked up.
Fetal anomalies v0.146 IKBKG Rebecca Foulger Mode of inheritance for gene: IKBKG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.145 GJB2 Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, inheritance was listed as biallelic for 'DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A' and monoallelic for 'PALMOPLANTAR KERATODERMA WITH DEAFNESS', 'ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME', 'VOHWINKEL SYNDROME' and 'BART-PUMPHREY SYNDROME'. Changed MOI to 'monoallelic' only following clinical review because the deafness phenotype alone is not detectable pre-natally.
Fetal anomalies v0.145 GJB2 Rebecca Foulger Mode of inheritance for gene: GJB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.144 GJA1 Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, mode of inheritance listed as biallelic for 'HALLERMANN-STREIFF SYNDROME' and 'AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA', and listed as monoallelic for 'HYPOPLASTIC LEFT HEART SYNDROME' and 'AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA'. Clinical review confirmed that GJA1 should be on the panel with both monoallelic and biallelic inheritance.
Fetal anomalies v0.144 GJA1 Rebecca Foulger Mode of inheritance for gene: GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.143 CRYAA Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, the Mode of inheritance was listed as Biallelic for 'CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1' and Monoallelic for 'CATARACT, NUCLEAR'. Clinical review confirmed that CRYAA should be on the panel with both biallelic and monoallelic modes of inheritance.
Fetal anomalies v0.143 CRYAA Rebecca Foulger Mode of inheritance for gene: CRYAA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.142 CASK Rebecca Foulger commented on gene: CASK: In the original PAGE file, MOI listed as X-linked dominant for 'MENTAL RETARDATION X-LINKED CASK-RELATED, and Hemizygous for 'FG SYNDROME TYPE 4' and 'MRX WITH/WITHOUT NYSTAGMUS'.
Fetal anomalies v0.142 ALDH18A1 Rebecca Foulger Added comment: Comment on mode of inheritance: Mode of inheritance in original PAGE file was Monoallelic for 'CUTIS LAXA, AUTOSOMAL DOMINANT 3' and 'SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT', and Biallelic for 'MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES'. Clinical review confirmed that ALDH18A1 should be on the panel with both monoallelic and biallelic inheritance.
Fetal anomalies v0.142 ALDH18A1 Rebecca Foulger Mode of inheritance for gene: ALDH18A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.141 ACOX1 Rebecca Foulger Added comment: Comment on phenotypes: 'Peroxisomal acyl-CoA oxidase deficiency, 264470' phenotype was added from OMIM, following clinical review. The 'ADRENOLEUKODYSTROPHY PSEUDONEONATAL' phenotype came from the original PAGE file and DD-Gene2Phenotype.
Fetal anomalies v0.141 ACOX1 Rebecca Foulger Phenotypes for gene: ACOX1 were changed from ADRENOLEUKODYSTROPHY PSEUDONEONATAL; Peroxisomal acyl-CoA oxidase deficiency, 264470 to ADRENOLEUKODYSTROPHY PSEUDONEONATAL; Peroxisomal acyl-CoA oxidase deficiency, 264470
Fetal anomalies v0.140 SOST Rebecca Foulger Phenotypes for gene: SOST were changed from 269500; SOST-Related Sclerosing Bone Dysplasias 122860; Sclerosteosis 1, 269500; Craniodiaphyseal dysplasia, autosomal dominant, 122860 to SOST-Related Sclerosing Bone Dysplasias 122860; Sclerosteosis 1, 269500; Craniodiaphyseal dysplasia, autosomal dominant, 122860
Fetal anomalies v0.139 SOST Rebecca Foulger Added comment: Comment on mode of inheritance: SOST was originally in the PAGE Additional list with 'Biallelic' inheritance and a confirmed rating. Changed the inheritance to both monoallelic and biallelic following clinical review.
Fetal anomalies v0.139 SOST Rebecca Foulger Mode of inheritance for gene: SOST was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.138 MSH6 Rebecca Foulger Added comment: Comment on mode of inheritance: The Mode of inheritance in the Additional PAGE list was recorded as 'Monoallelic' with a Confirmed rating. Phenotype was changed to Biallelic following clinical review.
Fetal anomalies v0.138 MSH6 Rebecca Foulger Mode of inheritance for gene: MSH6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.137 MSH2 Rebecca Foulger Added comment: Comment on mode of inheritance: The Mode of inheritance in the Additional PAGE list was recorded as both 'Monoallelic' and 'Biallelic' with a Confirmed rating for both. Phenotype was changed to Biallelic only following clinical review.
Fetal anomalies v0.137 MSH2 Rebecca Foulger Mode of inheritance for gene: MSH2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.136 MLH1 Rebecca Foulger Added comment: Comment on mode of inheritance: The MOI in the Additional PAGE list was recorded as both 'Monoallelic' and 'Biallelic' with a Confirmed rating for both. Phenotype was changed to Biallelic only following clinical review.
Fetal anomalies v0.136 MLH1 Rebecca Foulger Mode of inheritance for gene: MLH1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.135 NYX Rebecca Foulger Source Expert Review Red was added to NYX.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NTRK1 Rebecca Foulger Source Expert Review Red was added to NTRK1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NT5C3A Rebecca Foulger Source Expert Review Red was added to NT5C3A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NR2F1 Rebecca Foulger Source Expert Review Red was added to NR2F1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NPHS2 Rebecca Foulger Source Expert Review Red was added to NPHS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NPHP4 Rebecca Foulger Source Expert Review Red was added to NPHP4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NMNAT1 Rebecca Foulger Source Expert Review Red was added to NMNAT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NKX2-1 Rebecca Foulger Source Expert Review Red was added to NKX2-1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NGLY1 Rebecca Foulger Source Expert Review Red was added to NGLY1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NDP Rebecca Foulger Source Expert Review Red was added to NDP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 NAGS Rebecca Foulger Source Expert Review Red was added to NAGS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MYT1L Rebecca Foulger Source Expert Review Red was added to MYT1L.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MYO5B Rebecca Foulger Source Expert Review Red was added to MYO5B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MYO5A Rebecca Foulger Source Expert Review Red was added to MYO5A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MUT Rebecca Foulger Source Expert Review Red was added to MUT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MTRR Rebecca Foulger Source Expert Review Red was added to MTRR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MTR Rebecca Foulger Source Expert Review Red was added to MTR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MTHFR Rebecca Foulger Source Expert Review Red was added to MTHFR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MSL3 Rebecca Foulger Publications for gene MSL3 were changed from to 30224647
Fetal anomalies v0.135 MRE11 Rebecca Foulger Source Expert Review Red was added to MRE11.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MPI Rebecca Foulger Source Expert Review Red was added to MPI.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MMADHC Rebecca Foulger Source Expert Review Red was added to MMADHC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MMACHC Rebecca Foulger Source Expert Review Red was added to MMACHC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MMAB Rebecca Foulger Source Expert Review Red was added to MMAB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MMAA Rebecca Foulger Source Expert Review Red was added to MMAA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MICU1 Rebecca Foulger Source Expert Review Red was added to MICU1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MGAT2 Rebecca Foulger Source Expert Review Red was added to MGAT2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MFSD8 Rebecca Foulger Source Expert Review Red was added to MFSD8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MECP2 Rebecca Foulger Source Expert Review Red was added to MECP2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MCEE Rebecca Foulger Source Expert Review Red was added to MCEE.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MCCC2 Rebecca Foulger Source Expert Review Red was added to MCCC2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MCCC1 Rebecca Foulger Source Expert Review Red was added to MCCC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MC2R Rebecca Foulger Source Expert Review Red was added to MC2R.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 LTBP2 Rebecca Foulger Source Expert Review Red was added to LTBP2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 LRP5 Rebecca Foulger Mode of inheritance for gene LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.135 LMBRD1 Rebecca Foulger Source Expert Review Red was added to LMBRD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 LEMD3 Rebecca Foulger Source Expert Review Red was added to LEMD3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 KMT5B Rebecca Foulger Source Expert Review Red was added to KMT5B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 KCNQ2 Rebecca Foulger Source Expert Review Red was added to KCNQ2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 KCNC1 Rebecca Foulger Source Expert Review Red was added to KCNC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 KCNB1 Rebecca Foulger Source Expert Review Red was added to KCNB1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 KCNA2 Rebecca Foulger Source Expert Review Red was added to KCNA2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 JAK3 Rebecca Foulger Source Expert Review Red was added to JAK3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 JAGN1 Rebecca Foulger Source Expert Review Red was added to JAGN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 IVD Rebecca Foulger Source Expert Review Red was added to IVD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ITGA7 Rebecca Foulger Source Expert Review Red was added to ITGA7.
Publications for gene ITGA7 were changed from to 9590299
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 IKBKG Rebecca Foulger Mode of inheritance for gene IKBKG was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.135 IGSF1 Rebecca Foulger Source Expert Review Red was added to IGSF1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HYAL1 Rebecca Foulger Source Expert Review Red was added to HYAL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HSD3B7 Rebecca Foulger Source Expert Review Red was added to HSD3B7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HSD17B10 Rebecca Foulger Source Expert Review Red was added to HSD17B10.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HPS1 Rebecca Foulger Source Expert Review Red was added to HPS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HPRT1 Rebecca Foulger Source Expert Review Red was added to HPRT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HPGD Rebecca Foulger Source Expert Review Red was added to HPGD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HOXC13 Rebecca Foulger Source Expert Review Red was added to HOXC13.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HNRNPU Rebecca Foulger Source Expert Review Red was added to HNRNPU.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HMGCS2 Rebecca Foulger Source Expert Review Red was added to HMGCS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HMGCL Rebecca Foulger Source Expert Review Red was added to HMGCL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HLCS Rebecca Foulger Source Expert Review Red was added to HLCS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HINT1 Rebecca Foulger Source Expert Review Red was added to HINT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HGSNAT Rebecca Foulger Source Expert Review Red was added to HGSNAT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HEXB Rebecca Foulger Source Expert Review Red was added to HEXB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HEXA Rebecca Foulger Source Expert Review Red was added to HEXA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HECW2 Rebecca Foulger Source Expert Review Red was added to HECW2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HDAC4 Rebecca Foulger Source Expert Review Red was added to HDAC4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HCN1 Rebecca Foulger Source Expert Review Red was added to HCN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HCFC1 Rebecca Foulger Source Expert Review Red was added to HCFC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HAX1 Rebecca Foulger Source Expert Review Red was added to HAX1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HADH Rebecca Foulger Source Expert Review Red was added to HADH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 HACE1 Rebecca Foulger Source Expert Review Red was added to HACE1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GRM6 Rebecca Foulger Source Expert Review Red was added to GRM6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GRIN2A Rebecca Foulger Source Expert Review Red was added to GRIN2A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GRIK2 Rebecca Foulger Source Expert Review Red was added to GRIK2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GRIA3 Rebecca Foulger Source Expert Review Red was added to GRIA3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GMPPA Rebecca Foulger Source Expert Review Red was added to GMPPA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GLUD1 Rebecca Foulger Source Expert Review Red was added to GLUD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GJB2 Rebecca Foulger Mode of inheritance for gene GJB2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.135 GHR Rebecca Foulger Source Expert Review Red was added to GHR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GDI1 Rebecca Foulger Source Expert Review Red was added to GDI1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GCH1 Rebecca Foulger Source Expert Review Red was added to GCH1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GCDH Rebecca Foulger Source Expert Review Red was added to GCDH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GATM Rebecca Foulger Source Expert Review Red was added to GATM.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GATAD2B Rebecca Foulger Source Expert Review Red was added to GATAD2B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GAMT Rebecca Foulger Source Expert Review Red was added to GAMT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GALT Rebecca Foulger Source Expert Review Red was added to GALT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GALK1 Rebecca Foulger Source Expert Review Red was added to GALK1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GALE Rebecca Foulger Source Expert Review Red was added to GALE.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GALC Rebecca Foulger Source Expert Review Red was added to GALC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 GABRB3 Rebecca Foulger Source Expert Review Red was added to GABRB3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FZD6 Rebecca Foulger Source Expert Review Red was added to FZD6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FTSJ1 Rebecca Foulger Source Expert Review Red was added to FTSJ1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FTL Rebecca Foulger Source Expert Review Red was added to FTL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FTCD Rebecca Foulger Source Expert Review Red was added to FTCD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FRMD7 Rebecca Foulger Source Expert Review Red was added to FRMD7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FOXP1 Rebecca Foulger Source Expert Review Red was added to FOXP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FOXN1 Rebecca Foulger Source Expert Review Red was added to FOXN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FOXG1 Rebecca Foulger Source Expert Review Red was added to FOXG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FLVCR1 Rebecca Foulger Source Expert Review Red was added to FLVCR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FLAD1 Rebecca Foulger Source Expert Review Red was added to FLAD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FKTN Rebecca Foulger Source Expert Review Red was added to FKTN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FHL1 Rebecca Foulger Source Expert Review Red was added to FHL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FH Rebecca Foulger Source Expert Review Red was added to FH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FGF12 Rebecca Foulger Source Expert Review Red was added to FGF12.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 FBP1 Rebecca Foulger Source Expert Review Red was added to FBP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ETHE1 Rebecca Foulger Source Expert Review Red was added to ETHE1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ERCC6L2 Rebecca Foulger Source Expert Review Red was added to ERCC6L2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ENPP1 Rebecca Foulger Source Expert Review Red was added to ENPP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 EGR2 Rebecca Foulger Source Expert Review Red was added to EGR2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DSPP Rebecca Foulger Source Expert Review Red was added to DSPP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DPAGT1 Rebecca Foulger Source Expert Review Red was added to DPAGT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DOCK8 Rebecca Foulger Source Expert Review Red was added to DOCK8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DNMT3B Rebecca Foulger Source Expert Review Red was added to DNMT3B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DNMT3A Rebecca Foulger Source Expert Review Red was added to DNMT3A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DMP1 Rebecca Foulger Source Expert Review Red was added to DMP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DLG3 Rebecca Foulger Source Expert Review Red was added to DLG3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DEPDC5 Rebecca Foulger Source Expert Review Red was added to DEPDC5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DDOST Rebecca Foulger Source Expert Review Red was added to DDOST.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DDHD1 Rebecca Foulger Source Expert Review Red was added to DDHD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DDC Rebecca Foulger Source Expert Review Red was added to DDC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DDB2 Rebecca Foulger Source Expert Review Red was added to DDB2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 DBT Rebecca Foulger Source Expert Review Red was added to DBT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CYP1B1 Rebecca Foulger Source Expert Review Red was added to CYP1B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CYC1 Rebecca Foulger Source Expert Review Red was added to CYC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CTSA Rebecca Foulger Publications for gene CTSA were changed from to 7759227
Fetal anomalies v0.135 CTNS Rebecca Foulger Source Expert Review Red was added to CTNS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CTNNB1 Rebecca Foulger Publications for gene CTNNB1 were changed from to 27915094
Fetal anomalies v0.135 CSTB Rebecca Foulger Source Expert Review Red was added to CSTB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CRX Rebecca Foulger Source Expert Review Red was added to CRX.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CRB1 Rebecca Foulger Source Expert Review Red was added to CRB1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CPS1 Rebecca Foulger Source Expert Review Red was added to CPS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COMP Rebecca Foulger Source Expert Review Red was added to COMP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COL9A3 Rebecca Foulger Source Expert Review Red was added to COL9A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COL4A4 Rebecca Foulger Source Expert Review Red was added to COL4A4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COL4A3 Rebecca Foulger Source Expert Review Red was added to COL4A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COG8 Rebecca Foulger Publications for gene COG8 were changed from to 30690882
Fetal anomalies v0.135 CLN8 Rebecca Foulger Source Expert Review Red was added to CLN8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CLN5 Rebecca Foulger Source Expert Review Red was added to CLN5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CLN3 Rebecca Foulger Source Expert Review Red was added to CLN3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CLDN19 Rebecca Foulger Source Expert Review Red was added to CLDN19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CIB2 Rebecca Foulger Source Expert Review Red was added to CIB2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CHRNA4 Rebecca Foulger Source Expert Review Red was added to CHRNA4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CHRDL1 Rebecca Foulger Source Expert Review Red was added to CHRDL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CHD2 Rebecca Foulger Source Expert Review Red was added to CHD2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CCDC115 Rebecca Foulger Source Expert Review Red was added to CCDC115.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CC2D1A Rebecca Foulger Source Expert Review Red was added to CC2D1A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CBS Rebecca Foulger Source Expert Review Red was added to CBS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CAD Rebecca Foulger Source Expert Review Red was added to CAD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 C4orf26 Rebecca Foulger Source Expert Review Red was added to C4orf26.
Added phenotypes Amelogenesis imperfecta, type IIA4, 614832 for gene: C4orf26
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 C2orf71 Rebecca Foulger Source Expert Review Red was added to C2orf71.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 BRWD3 Rebecca Foulger Source Expert Review Red was added to BRWD3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 BICD2 Rebecca Foulger Source Expert Review Red was added to BICD2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 BFSP2 Rebecca Foulger Source Expert Review Red was added to BFSP2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 BCKDHB Rebecca Foulger Source Expert Review Red was added to BCKDHB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 BCKDHA Rebecca Foulger Source Expert Review Red was added to BCKDHA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ATP8B1 Rebecca Foulger Source Expert Review Red was added to ATP8B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ATP6V1B1 Rebecca Foulger Source Expert Review Red was added to ATP6V1B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ATM Rebecca Foulger Source Expert Review Red was added to ATM.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ASL Rebecca Foulger Source Expert Review Red was added to ASL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ARG1 Rebecca Foulger Source Expert Review Red was added to ARG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 APTX Rebecca Foulger Source Expert Review Red was added to APTX.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 APOPT1 Rebecca Foulger Source Expert Review Red was added to APOPT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ALS2 Rebecca Foulger Source Expert Review Red was added to ALS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ALDH5A1 Rebecca Foulger Source Expert Review Red was added to ALDH5A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ALDH4A1 Rebecca Foulger Source Expert Review Red was added to ALDH4A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AKR1D1 Rebecca Foulger Source Expert Review Red was added to AKR1D1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AK2 Rebecca Foulger Source Expert Review Red was added to AK2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AIPL1 Rebecca Foulger Source Expert Review Red was added to AIPL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AGA Rebecca Foulger Source Expert Review Red was added to AGA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AFF2 Rebecca Foulger Source Expert Review Red was added to AFF2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ADA Rebecca Foulger Source Expert Review Red was added to ADA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ACOX1 Rebecca Foulger Added phenotypes ADRENOLEUKODYSTROPHY PSEUDONEONATAL; Peroxisomal acyl-CoA oxidase deficiency, 264470 for gene: ACOX1
Fetal anomalies v0.135 ACAT1 Rebecca Foulger Source Expert Review Red was added to ACAT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ACADM Rebecca Foulger Source Expert Review Red was added to ACADM.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ACAD9 Rebecca Foulger Publications for gene ACAD9 were changed from to 26475292
Fetal anomalies v0.135 ABCB7 Rebecca Foulger Source Expert Review Red was added to ABCB7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 ABCB11 Rebecca Foulger Source Expert Review Red was added to ABCB11.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 TNXB Rebecca Foulger Source Expert Review Red was added to TNXB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 SP110 Rebecca Foulger Source Expert Review Red was added to SP110.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 SOST Rebecca Foulger Mode of inheritance for gene SOST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Sclerosteosis 1, 269500; Craniodiaphyseal dysplasia, autosomal dominant, 122860 for gene: SOST
Fetal anomalies v0.135 SGCA Rebecca Foulger Source Expert Review Red was added to SGCA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 SELENON Rebecca Foulger Source Expert Review Red was added to SELENON.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 MSH6 Rebecca Foulger Mode of inheritance for gene MSH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.135 MSH2 Rebecca Foulger Mode of inheritance for gene MSH2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.135 MLH1 Rebecca Foulger Mode of inheritance for gene MLH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.135 GRIP1 Rebecca Foulger Publications for gene GRIP1 were changed from to 22510445
Fetal anomalies v0.135 COL5A2 Rebecca Foulger Source Expert Review Red was added to COL5A2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 COL5A1 Rebecca Foulger Source Expert Review Red was added to COL5A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 CAVIN1 Rebecca Foulger Source Expert Review Red was added to CAVIN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AP3B1 Rebecca Foulger Source Expert Review Red was added to AP3B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.135 AGRN Rebecca Foulger Source Expert Review Red was added to AGRN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.134 NYX Rebecca Foulger edited their review of gene: NYX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NYX gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MYCN Rebecca Foulger edited their review of gene: MYCN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NUP107 Rebecca Foulger edited their review of gene: NUP107: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NUBPL Rebecca Foulger edited their review of gene: NUBPL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NTRK1 Rebecca Foulger edited their review of gene: NTRK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NTRK1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NT5C3A Rebecca Foulger edited their review of gene: NT5C3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NT5C3A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NSDHL Rebecca Foulger edited their review of gene: NSDHL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NSD1 Rebecca Foulger edited their review of gene: NSD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NRAS Rebecca Foulger edited their review of gene: NRAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NR2F2 Rebecca Foulger edited their review of gene: NR2F2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NR2F1 Rebecca Foulger edited their review of gene: NR2F1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NR2F1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NPR2 Rebecca Foulger edited their review of gene: NPR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NPHS2 Rebecca Foulger edited their review of gene: NPHS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NPHS2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NPHS1 Rebecca Foulger edited their review of gene: NPHS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NPHP4 Rebecca Foulger edited their review of gene: NPHP4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NPHP4 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NPHP3 Rebecca Foulger edited their review of gene: NPHP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NPHP1 Rebecca Foulger edited their review of gene: NPHP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NPC2 Rebecca Foulger edited their review of gene: NPC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NPC1 Rebecca Foulger edited their review of gene: NPC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NOTCH2 Rebecca Foulger edited their review of gene: NOTCH2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NOG Rebecca Foulger edited their review of gene: NOG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NODAL Rebecca Foulger edited their review of gene: NODAL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NMNAT1 Rebecca Foulger edited their review of gene: NMNAT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NMNAT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NKX3-2 Rebecca Foulger edited their review of gene: NKX3-2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NKX2-5 Rebecca Foulger edited their review of gene: NKX2-5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NKX2-1 Rebecca Foulger edited their review of gene: NKX2-1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Don't include: septal defect in some patients. Action taken: Demoted NKX2-1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NHS Rebecca Foulger edited their review of gene: NHS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NGLY1 Rebecca Foulger edited their review of gene: NGLY1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NGLY1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NFIX Rebecca Foulger edited their review of gene: NFIX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NF1 Rebecca Foulger edited their review of gene: NF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NEU1 Rebecca Foulger edited their review of gene: NEU1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NEK1 Rebecca Foulger edited their review of gene: NEK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NECTIN4 Rebecca Foulger edited their review of gene: NECTIN4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NDP Rebecca Foulger edited their review of gene: NDP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NDP gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NDE1 Rebecca Foulger edited their review of gene: NDE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NBN Rebecca Foulger edited their review of gene: NBN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NBAS Rebecca Foulger edited their review of gene: NBAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NANS Rebecca Foulger edited their review of gene: NANS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NALCN Rebecca Foulger edited their review of gene: NALCN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NAGS Rebecca Foulger edited their review of gene: NAGS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NAGS gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 NAGA Rebecca Foulger edited their review of gene: NAGA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NACC1 Rebecca Foulger edited their review of gene: NACC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 NAA10 Rebecca Foulger edited their review of gene: NAA10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MYT1L Rebecca Foulger edited their review of gene: MYT1L: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MYT1L gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MYO5B Rebecca Foulger edited their review of gene: MYO5B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MYO5B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MYO5A Rebecca Foulger edited their review of gene: MYO5A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MYO5A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MYH9 Rebecca Foulger edited their review of gene: MYH9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Could potentially have a bleed in utero.; Changed rating: GREEN
Fetal anomalies v0.134 MUT Rebecca Foulger edited their review of gene: MUT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MUT gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MTRR Rebecca Foulger edited their review of gene: MTRR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MTRR gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MTR Rebecca Foulger edited their review of gene: MTR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MTR gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MTOR Rebecca Foulger edited their review of gene: MTOR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MTO1 Rebecca Foulger edited their review of gene: MTO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MTM1 Rebecca Foulger edited their review of gene: MTM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MTHFR Rebecca Foulger edited their review of gene: MTHFR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MTHFR gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MSX2 Rebecca Foulger edited their review of gene: MSX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MSX1 Rebecca Foulger edited their review of gene: MSX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MSL3 Rebecca Foulger edited their review of gene: MSL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: MSL3 is not yet associated with a disorder in OMIM, but a recent publication (PMID:30224647) reports a variety of structural features.; Changed rating: GREEN; Changed publications: 30224647
Fetal anomalies v0.134 MRE11 Rebecca Foulger edited their review of gene: MRE11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MRE11 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MPLKIP Rebecca Foulger edited their review of gene: MPLKIP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Rare structural associations.; Changed rating: GREEN
Fetal anomalies v0.134 MPI Rebecca Foulger edited their review of gene: MPI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MPI gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MPDU1 Rebecca Foulger edited their review of gene: MPDU1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MOCS2 Rebecca Foulger edited their review of gene: MOCS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MOCS1 Rebecca Foulger edited their review of gene: MOCS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MNX1 Rebecca Foulger edited their review of gene: MNX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MMP21 Rebecca Foulger edited their review of gene: MMP21: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MMP13 Rebecca Foulger edited their review of gene: MMP13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MMADHC Rebecca Foulger edited their review of gene: MMADHC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMADHC gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MMACHC Rebecca Foulger edited their review of gene: MMACHC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMACHC gene rating from Green to Red. Additional notes from clinical review: Hydrocephalus is probably secondary phenotype.; Changed rating: RED
Fetal anomalies v0.134 MMAB Rebecca Foulger edited their review of gene: MMAB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMAB gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MMAA Rebecca Foulger edited their review of gene: MMAA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMAA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MLYCD Rebecca Foulger edited their review of gene: MLYCD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MLC1 Rebecca Foulger edited their review of gene: MLC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MKS1 Rebecca Foulger edited their review of gene: MKS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MKKS Rebecca Foulger edited their review of gene: MKKS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MID1 Rebecca Foulger edited their review of gene: MID1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MICU1 Rebecca Foulger edited their review of gene: MICU1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MICU1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MGP Rebecca Foulger edited their review of gene: MGP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MGAT2 Rebecca Foulger edited their review of gene: MGAT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Post-natal onset. Action taken: Demoted MGAT2 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 MFSD8 Rebecca Foulger edited their review of gene: MFSD8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Disease is progressive with late infantile onset (from age 1.5 years). Action taken: Demoted MFSD8 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 MFSD2A Rebecca Foulger edited their review of gene: MFSD2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MFRP Rebecca Foulger edited their review of gene: MFRP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.134 MESP2 Rebecca Foulger edited their review of gene: MESP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Abnormal vertebrae.; Changed rating: GREEN
Fetal anomalies v0.134 MEGF8 Rebecca Foulger edited their review of gene: MEGF8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN