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Fetal anomalies v6.146 SF1 Arina Puzriakova gene: SF1 was added
gene: SF1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: SF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.68 TNFRSF13B Achchuthan Shanmugasundram Phenotypes for gene: TNFRSF13B were changed from Immunodeficiency, common variable, 2, OMIM:240500; IMMUNODEFICIENCY, COMMON VARIABLE, 2 to Immunodeficiency, common variable, 2, OMIM:240500
Fetal anomalies v5.16 TNFSF11 Achchuthan Shanmugasundram commented on gene: TNFSF11
Fetal anomalies v5.16 TNFRSF13B Achchuthan Shanmugasundram commented on gene: TNFRSF13B
Fetal anomalies v5.15 TNFSF11 Sunayna Best reviewed gene: TNFSF11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 2, MIM#259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TNFRSF13B Sunayna Best reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: ; Publications: 16007087, 16007086; Phenotypes: Immunodeficiency, common variable, 2, MIM#240500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.13 TNFSF11 Achchuthan Shanmugasundram gene: TNFSF11 was added
gene: TNFSF11 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2, OMIM:259710
Fetal anomalies v5.13 TNFRSF13B Achchuthan Shanmugasundram Source NHS GMS was added to TNFRSF13B.
Source Expert Review Red was added to TNFRSF13B.
Mode of inheritance for gene TNFRSF13B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency, common variable, 2, OMIM:240500 for gene: TNFRSF13B
Publications for gene: TNFRSF13B were updated from to 16007087; 16007086
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.36 TNFRSF11A Achchuthan Shanmugasundram commented on gene: TNFRSF11A
Fetal anomalies v4.35 TNFRSF11A Natalie Canham reviewed gene: TNFRSF11A: Rating: AMBER; Mode of pathogenicity: ; Publications: 18606301, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 7, OMIM:612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.34 TNFRSF11A Achchuthan Shanmugasundram gene: TNFRSF11A was added
gene: TNFRSF11A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF11A were set to 18606301; 32048120
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, OMIM:612301
Fetal anomalies v1.836 CSF1R Arina Puzriakova Tag Q4_21_rating was removed from gene: CSF1R.
Fetal anomalies v1.836 CSF1R Arina Puzriakova commented on gene: CSF1R: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.835 CSF1R Arina Puzriakova Source Expert Review Green was added to CSF1R.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.758 CSF1R Arina Puzriakova Classified gene: CSF1R as Amber List (moderate evidence)
Fetal anomalies v1.758 CSF1R Arina Puzriakova Gene: csf1r has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.757 CSF1R Arina Puzriakova Publications for gene: CSF1R were set to PMID: 30982608
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 v1.755 CSF1R Arina Puzriakova Tag Q4_21_rating tag was added to gene: CSF1R.
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
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 v0.134 IGSF1 Rebecca Foulger edited their review of gene: IGSF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. 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 IGSF1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.9 TNFRSF13B Rebecca Foulger reviewed gene: TNFRSF13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TNFRSF11B Rebecca Foulger reviewed gene: TNFRSF11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IGSF1 Rebecca Foulger reviewed gene: IGSF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 TNFRSF13B Rebecca Foulger gene: TNFRSF13B was added
gene: TNFRSF13B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2
Fetal anomalies v0.1 TNFRSF11B Rebecca Foulger gene: TNFRSF11B was added
gene: TNFRSF11B was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11B were set to Paget disease 239000
Fetal anomalies v0.1 IGSF1 Rebecca Foulger gene: IGSF1 was added
gene: IGSF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IGSF1 were set to CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT