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Fetal anomalies v4.192 RNF125 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RNF125.
Tag Q3_24_NHS_review was removed from gene: RNF125.
Fetal anomalies v4.192 RNF113A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RNF113A.
Tag Q3_24_NHS_review was removed from gene: RNF113A.
Fetal anomalies v4.192 RNF125 Achchuthan Shanmugasundram edited their review of gene: RNF125: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RNF113A Achchuthan Shanmugasundram edited their review of gene: RNF113A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.191 RNF125 Achchuthan Shanmugasundram Source Expert Review Green was added to RNF125.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RNF113A Achchuthan Shanmugasundram Source Expert Review Green was added to RNF113A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.89 RNF125 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RNF125.
Tag Q3_24_NHS_review tag was added to gene: RNF125.
Fetal anomalies v4.89 RNF113A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RNF113A.
Tag Q3_24_NHS_review tag was added to gene: RNF113A.
Fetal anomalies v4.36 RNF125 Achchuthan Shanmugasundram commented on gene: RNF125
Fetal anomalies v4.36 RNF113A Achchuthan Shanmugasundram commented on gene: RNF113A
Fetal anomalies v4.35 RNF125 Natalie Canham reviewed gene: RNF125: Rating: GREEN; Mode of pathogenicity: ; Publications: 25196541; Phenotypes: Tenorio syndrome, OMIM:616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RNF113A Natalie Bibb reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25612912, 31793730, 31880405; Phenotypes: Trichothiodystrophy 5, nonphotosensitive, OMIM:300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.34 RNF125 Achchuthan Shanmugasundram gene: RNF125 was added
gene: RNF125 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF125 were set to 25196541
Phenotypes for gene: RNF125 were set to Tenorio syndrome, OMIM:616260
Fetal anomalies v4.34 RNF113A Achchuthan Shanmugasundram gene: RNF113A was added
gene: RNF113A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RNF113A were set to 25612912; 31793730; 31880405
Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive, OMIM:300953
Fetal anomalies v1.836 SERPINF1 Arina Puzriakova Tag for-review was removed from gene: SERPINF1.
Fetal anomalies v1.836 SERPINF1 Arina Puzriakova commented on gene: SERPINF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.835 SERPINF1 Arina Puzriakova Source Expert Review Green was added to SERPINF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.583 SERPINF1 Arina Puzriakova Phenotypes for gene: SERPINF1 were changed from Osteogenesis imperfecta, type VI to Osteogenesis imperfecta, type VI, OMIM:613982; Osteogenesis imperfecta type 6, MONDO:0013515
Fetal anomalies v1.579 SERPINF1 Arina Puzriakova Classified gene: SERPINF1 as Amber List (moderate evidence)
Fetal anomalies v1.579 SERPINF1 Arina Puzriakova Gene: serpinf1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.578 SERPINF1 Arina Puzriakova Tag for-review tag was added to gene: SERPINF1.
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 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 HNF1B Rebecca Foulger edited their review of gene: HNF1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.9 NF1 Rebecca Foulger reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HNF1B Rebecca Foulger reviewed gene: HNF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BANF1 Rebecca Foulger commented on gene: BANF1: DDG2P rating in original PAGE list: Probable for NESTOR-GUILLERMO PROGERIA SYNDROME
Fetal anomalies v0.3 BANF1 Rebecca Foulger reviewed gene: BANF1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 NF1 Rebecca Foulger Added phenotypes FAMILIAL SPINAL NEUROFIBROMATOSIS for gene: NF1
Fetal anomalies v0.1 NF1 Rebecca Foulger Added phenotypes WATSON SYNDROME for gene: NF1
Fetal anomalies v0.1 NF1 Rebecca Foulger Added phenotypes NEUROFIBROMATOSIS TYPE 1 for gene: NF1
Fetal anomalies v0.1 NF1 Rebecca Foulger gene: NF1 was added
gene: NF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NF1 were set to NEUROFIBROMATOSIS-NOONAN SYNDROME
Fetal anomalies v0.1 HNF1B Rebecca Foulger gene: HNF1B was added
gene: HNF1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME
Fetal anomalies v0.1 BANF1 Rebecca Foulger gene: BANF1 was added
gene: BANF1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BANF1 were set to NESTOR-GUILLERMO PROGERIA SYNDROME