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| Fetal anomalies v1.756 | CSF1R | Arina Puzriakova Phenotypes for gene: CSF1R were changed from Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) to Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476; BANDDOS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.749 | CSF1R |
Rhiannon Mellis gene: CSF1R was added gene: CSF1R was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF1R were set to PMID: 30982608 Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) Review for gene: CSF1R was set to GREEN 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: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Details of review: Homozygous variants cause Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). Skeletal phenotype is osteopetrosis, dysosteosclerosis, platyspondyly, widened metaphyses. Brain anomalies include ACC and Dandy walker. At least one reported case of prenatal presentation with multiple brain anomalies - PubMed: 30982608 NB Bilallelic LOF variants cause this condition with fetally relevant phenotype but Monoallelic variants with dominant-negative effect cause an adult-onset neurodegenerative disease. Only for fetal reporting in BIALLELIC form Sources: Expert Review |
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| Fetal anomalies v1.494 | POLR1A | Arina Puzriakova Phenotypes for gene: POLR1A were changed from ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE to Acrofacial dysostosis, Cincinnati type, OMIM:616462; Acrofacial dysostosis Cincinnati type, MONDO:0014651 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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| 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 v1.185 | 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 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 v0.135 | 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 |
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| Fetal anomalies v0.134 | SOST | Rebecca Foulger edited their review of gene: SOST: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon 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: Change mode of inheritance to 'both monoallelic and biallelic' to include AD Craniodiaphyseal dysplasia. Action taken: Changed Mode of inheritance from 'biallelic' to 'both monoallelic and biallelic'.; Changed rating: GREEN; Changed phenotypes: Craniodiaphyseal dysplasia, autosomal dominant, 122860, Sclerosteosis 1, 269500; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZSWIM6 | Rebecca Foulger commented on gene: ZSWIM6: DDG2P rating in original PAGE list: Probable for ACROMELIC FRONTONASAL DYSOSTOSIS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SOST | Rebecca Foulger reviewed gene: SOST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PRKAR1A | Rebecca Foulger commented on gene: PRKAR1A: DDG2P rating in original PAGE list: Confirmed for ACRODYSOSTOSIS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PDE4D | Rebecca Foulger commented on gene: PDE4D: DDG2P rating in original PAGE list: Confirmed for ACRODYSOSTOSIS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LFNG | Rebecca Foulger commented on gene: LFNG: DDG2P rating in original PAGE list: Confirmed for SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EDNRA | Rebecca Foulger commented on gene: EDNRA: DDG2P rating in original PAGE list: Confirmed for MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ZSWIM6 |
Rebecca Foulger gene: ZSWIM6 was added gene: ZSWIM6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZSWIM6 were set to ACROMELIC FRONTONASAL DYSOSTOSIS |
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| Fetal anomalies v0.1 | TBX6 |
Rebecca Foulger gene: TBX6 was added gene: TBX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: TBX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX6 were set to Spondylocostal dysostosis 5 122600 |
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| Fetal anomalies v0.1 | SOST |
Rebecca Foulger gene: SOST was added gene: SOST was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SOST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SOST were set to 269500; SOST-Related Sclerosing Bone Dysplasias 122860 |
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| Fetal anomalies v0.1 | SF3B4 |
Rebecca Foulger gene: SF3B4 was added gene: SF3B4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SF3B4 were set to ACROFACIAL DYSOSTOSIS 1, NAGER TYPE |
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| Fetal anomalies v0.1 | PRKAR1A |
Rebecca Foulger gene: PRKAR1A was added gene: PRKAR1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKAR1A were set to ACRODYSOSTOSIS |
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| Fetal anomalies v0.1 | POLR1A |
Rebecca Foulger gene: POLR1A was added gene: POLR1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: POLR1A were set to ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE |
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| Fetal anomalies v0.1 | PDE4D |
Rebecca Foulger gene: PDE4D was added gene: PDE4D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDE4D were set to ACRODYSOSTOSIS |
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| Fetal anomalies v0.1 | MESP2 |
Rebecca Foulger gene: MESP2 was added gene: MESP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MESP2 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 |
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| Fetal anomalies v0.1 | LFNG |
Rebecca Foulger gene: LFNG was added gene: LFNG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LFNG were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 |
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| Fetal anomalies v0.1 | HES7 |
Rebecca Foulger gene: HES7 was added gene: HES7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive 613686 |
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| Fetal anomalies v0.1 | EVC2 | Rebecca Foulger Added phenotypes ACROFACIAL DYSOSTOSIS WEYERS TYPE for gene: EVC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | EVC |
Rebecca Foulger gene: EVC was added gene: EVC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC were set to ACROFACIAL DYSOSTOSIS WEYERS TYPE |
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| Fetal anomalies v0.1 | EFTUD2 |
Rebecca Foulger gene: EFTUD2 was added gene: EFTUD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EFTUD2 were set to MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY |
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| Fetal anomalies v0.1 | EDNRA |
Rebecca Foulger gene: EDNRA was added gene: EDNRA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EDNRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EDNRA were set to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA |
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| Fetal anomalies v0.1 | DLL3 |
Rebecca Foulger gene: DLL3 was added gene: DLL3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLL3 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 |
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| Fetal anomalies v0.1 | DHODH |
Rebecca Foulger gene: DHODH was added gene: DHODH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHODH were set to POSTAXIAL ACROFACIAL DYSOSTOSIS |
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| Fetal anomalies v0.1 | CTSK |
Rebecca Foulger gene: CTSK was added gene: CTSK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSK were set to PYCNODYSOSTOSIS |
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| Fetal anomalies v0.1 | BMPER |
Rebecca Foulger gene: BMPER was added gene: BMPER was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BMPER were set to DIAPHANOSPONDYLODYSOSTOSIS |
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