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Fetal anomalies v8.26 CIC Ida Ertmanska commented on gene: CIC
Fetal anomalies v8.25 CIC Sarah Graham reviewed gene: CIC: Rating: RED; Mode of pathogenicity: ; Publications: 28288114, 41836057; Phenotypes: Intellectual developmental disorder, autosomal dominant 45, OMIM:617600, intellectual developmental disorder, autosomal dominant 45, MONDO:0030910; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v8.25 GRK2 Louise Carr reviewed gene: GRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38647386, 33200460; Phenotypes: Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v8.23 CIC Ida Ertmanska gene: CIC was added
gene: CIC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CIC were set to 28288114; 41836057
Phenotypes for gene: CIC were set to Intellectual developmental disorder, autosomal dominant 45, OMIM:617600; intellectual developmental disorder, autosomal dominant 45, MONDO:0030910
Fetal anomalies v8.23 GRK2 Ida Ertmanska gene: GRK2 was added
gene: GRK2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRK2 were set to 38647386; 33200460
Phenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770
Fetal anomalies v6.152 PDIA6 Arina Puzriakova Added phenotypes Polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay for gene: PDIA6
Fetal anomalies v6.152 FGF4 Arina Puzriakova Added phenotypes Short-rib thoracic dysplasia 22 without polydactyly, OMIM:621260 for gene: FGF4
Fetal anomalies v6.147 PDIA6 Natalie Canham reviewed gene: PDIA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 40974269, 33495992, 35856135; Phenotypes: Polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 FGF4 Beth Young reviewed gene: FGF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 40259859; Phenotypes: Short-rib thoracic dysplasia 22 without polydactyly, OMIM:621260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.48 LOX Achchuthan Shanmugasundram Phenotypes for gene: LOX were changed from Aortopathy; Aortic aneurysm, familial thoracic 10, OMIM:617168 to Aortic aneurysm, familial thoracic 10, OMIM:617168
Fetal anomalies v5.15 LOX Sahar Mansour reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 33866545, 31742715; Phenotypes: Aortic aneurysm, familial thoracic 10, MIM#617168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.13 LOX Achchuthan Shanmugasundram Source NHS GMS was added to LOX.
Added phenotypes Aortic aneurysm, familial thoracic 10, OMIM:617168 for gene: LOX
Publications for gene: LOX were updated from 31742715 to 31742715; 33866545
Fetal anomalies v1.900 LOX Rhiannon Mellis gene: LOX was added
gene: LOX was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: LOX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LOX were set to PMID: 31742715
Phenotypes for gene: LOX were set to Aortopathy
Review for gene: LOX was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

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

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

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

Details of review:
Reported as a novel genotype-phenotype association in Aggarwal et al 2020 (PMID: 31742715), in a fetus with homozygous missense variants. Heterozygous variants in this gene are known to cause thoracic aortic aneurysm. The fetus presented with unexplained IUD and on post-mortem had: Excessive skin folds, emphysematous bullae on lung surface, Facial dysmorphism, distal joint contractures, internal haemorrhages. Histopathology and special stains confirmed degradation of collagen and elastin in the aorta, pleura and skin. If we are going to add to panel suggest putting MOI as biallelic only (and accept that this would be an incidental finding for carrier parents that would lead to them needing monitoring for aortic aneurysm)
Sources: Expert Review, Literature
Fetal anomalies v1.712 FOXE3 Eleanor Williams Phenotypes for gene: FOXE3 were changed from Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA; ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS
Fetal anomalies v1.711 FOXE3 Eleanor Williams Added comment: Comment on mode of inheritance: Monoallleic cases related to Aortic aneurysm, familial thoracic 11, susceptibility to and to some cases with an eye phenotype. Biallelic cases associated with an eye phenotype.
Fetal anomalies v1.710 FOXE3 Eleanor Williams Phenotypes for gene: FOXE3 were changed from ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; CONGENITAL PRIMARY APHAKIA to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA
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 v1.228 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 v1.215 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 v1.214 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 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 v1.196 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 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 v1.185 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 v1.74 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 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 v0.234 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 v0.134 LHX4 Rebecca Foulger edited their review of gene: LHX4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon 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: Abnormalities of the sella turcica; Changed rating: GREEN
Fetal anomalies v0.110 ACTA2 Rebecca Foulger commented on gene: ACTA2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for MOYAMOYA DISEASE 5; AORTIC ANEURYSM, FAMILIAL THORACIC 6.
Fetal anomalies v0.47 BGN Rebecca Foulger Phenotypes for gene: BGN were changed from Severe syndromic form of thoracic aortic aneurysm & dissection; X-Linked Spondyloepimetaphyseal Dysplasia to Severe syndromic form of thoracic aortic aneurysm & dissection; X-Linked Spondyloepimetaphyseal Dysplasia; Meester-Loeys syndrome, 300989; Spondyloepimetaphyseal dysplasia, X-linked, 300106
Fetal anomalies v0.9 WDR34 Rebecca Foulger commented on gene: WDR34: DDG2P rating in original PAGE list: Confirmed for SHORT-RIB POLYDACTYLY SYNDROME TYPE III and Confirmed for SEVERE ASPHYXIATING THORACIC DYSPLASIA.
Fetal anomalies v0.9 WDR19 Rebecca Foulger commented on gene: WDR19: DDG2P rating in original PAGE list: Confirmed for CRANIOECTODERMAL DYSPLASIA 4 and Confirmed for ASPHYXIATING THORACIC DYSTROPHY 5.
Fetal anomalies v0.9 TGFBR1 Rebecca Foulger commented on gene: TGFBR1: DDG2P rating in original PAGE list: Confirmed for LOEYS-DIETZ SYNDROME TYPE 2A, Confirmed for LOEYS-DIETZ SYNDROME TYPE 1A, and Confirmed for AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5.
Fetal anomalies v0.9 IFT80 Rebecca Foulger commented on gene: IFT80: DDG2P rating in original PAGE list: Confirmed for ASPHYXIATING THORACIC DYSTROPHY 2
Fetal anomalies v0.7 ACTA2 Rebecca Foulger commented on gene: ACTA2: Rating in original PAGE file: 'both DD and IF' for MOYAMOYA DISEASE 5 and AORTIC ANEURYSM, FAMILIAL THORACIC 6.
Fetal anomalies v0.1 WDR34 Rebecca Foulger Added phenotypes SEVERE ASPHYXIATING THORACIC DYSPLASIA for gene: WDR34
Fetal anomalies v0.1 WDR19 Rebecca Foulger Added phenotypes ASPHYXIATING THORACIC DYSTROPHY 5 for gene: WDR19
Fetal anomalies v0.1 TTC21B Rebecca Foulger gene: TTC21B was added
gene: TTC21B was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly 613819
Fetal anomalies v0.1 TGFBR1 Rebecca Foulger Added phenotypes AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 for gene: TGFBR1
Fetal anomalies v0.1 IFT80 Rebecca Foulger gene: IFT80 was added
gene: IFT80 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to ASPHYXIATING THORACIC DYSTROPHY 2
Fetal anomalies v0.1 DYNC2H1 Rebecca Foulger gene: DYNC2H1 was added
gene: DYNC2H1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2H1 were set to ASPHYXIATING THORACIC DYSTROPHY TYPE 3
Fetal anomalies v0.1 DHH Rebecca Foulger gene: DHH was added
gene: DHH was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: DHH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHH were set to 46XY partial gonadal dysgenesis, with minifascicular neuropathy
Fetal anomalies v0.1 CSPP1 Rebecca Foulger gene: CSPP1 was added
gene: CSPP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSPP1 were set to JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY
Fetal anomalies v0.1 BGN Rebecca Foulger Added phenotypes Severe syndromic form of thoracic aortic aneurysm & dissection for gene: BGN
Fetal anomalies v0.1 ACTA2 Rebecca Foulger Added phenotypes AORTIC ANEURYSM, FAMILIAL THORACIC 6 for gene: ACTA2