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Fetal anomalies v3.154 | ADA | Arina Puzriakova Phenotypes for gene: ADA were changed from Combined B and T cell defect; Adenosine deaminase deficiency (Disorders of purine metabolism); SCID; Infantile enterocolitis & monogenic inflammatory bowel disease to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.153 | ADA | Arina Puzriakova Phenotypes for gene: ADA were changed from ADENOSINE DEAMINASE DEFICIENCY to Combined B and T cell defect; Adenosine deaminase deficiency (Disorders of purine metabolism); SCID; Infantile enterocolitis & monogenic inflammatory bowel disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.981 | ADAR | Arina Puzriakova Phenotypes for gene: ADAR were changed from DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1; AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE to Aicardi-Goutieres syndrome 6, OMIM:615010; Dyschromatosis symmetrica hereditaria, OMIM:127400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |
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Fetal anomalies v1.870 | CACNA1C | Eleanor Williams Phenotypes for gene: CACNA1C were changed from Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.869 | CACNA1C | Eleanor Williams Phenotypes for gene: CACNA1C were changed from TIMOTHY SYNDROME to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | STRADA | Arina Puzriakova Tag for-review was removed from gene: STRADA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ADAMTS3 | Arina Puzriakova Tag for-review was removed from gene: ADAMTS3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | STRADA | Arina Puzriakova commented on gene: STRADA: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ADAMTS3 | Arina Puzriakova commented on gene: ADAMTS3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.835 | STRADA |
Arina Puzriakova Source Expert Review Green was added to STRADA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v1.835 | ADAMTS3 |
Arina Puzriakova Source Expert Review Green was added to ADAMTS3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v1.827 | RAC3 |
Rhiannon Mellis gene: RAC3 was added gene: RAC3 was added to Fetal anomalies. Sources: Literature,Expert Review,NHS GMS Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAC3 were set to 30293988; 29276006 Phenotypes for gene: RAC3 were set to Abnormality of brain morphology; Abnormal muscle tone; Neurodevelopmental delay; Intellectual disability Mode of pathogenicity for gene: RAC3 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: RAC3 was set to GREEN Added comment: This gene already has sufficient evidence for Green rating on the ID panel (see below) and now adding evidence (from NHS GMS testing) for prenatal phenotype to support Green rating for the Fetal Anomalies panel also: A RAC3 likely pathogenic missense variant has been identified postnatally in a baby that presented prenatally with absent corpus callosum, bilateral ventriculomegaly, cerebellar and brainstem hypoplasia detected on fetal ultrasound and MRI. The variant is judged by the child's clinical team to be causative of the clinical and radiological features in the child. Copied from Green review on Intellectual Disability panel by Konstantinos Varvagiannis: PMID: 30293988 reports on 5 individuals (from 4 different families) with de novo missense variants in RAC3. All individuals demonstrated structural anomalies on brain MRI (notably agenesis/dysgenesis of the corpus callosum, variable degrees of polymicrogyria and ventricular anomalies) as well as shared non-specific neurological features including abnormal muscular tone, global developmental delay and severe to profound intellectual disability. Feeding difficulties were observed in 4/5 patients. All variants reported are missense and are presumed to result in constitutive protein activation, as suggested by previous observations either in RAC3 [eg. the p.(Gln61Leu) mutation] or the highly homologous RAC1 and RAC2. According to the authors this is further supported by the fact that Rac3 -/- mice do not show a severe phenotype while missense variants are underrepresented in the ExAC database (z=1.97) as opposed to loss-of-function variants (pLI=0.04 / probability of loss-of-function intolerance). Of the 3 SNVs reported, 2 variants were in adjacent amino-acid positions [p.(Gln61Leu) and p.(Glu62Lys)]. The latter variant was found in 2 half-sibs born to different fathers, due to suspected maternal gonadal mosaicism (variant absent in all sequencing reads in the maternal DNA sample). The specific variant was also found in a further affected individual from an unrelated family. Finally, as the authors point out a further individual with de novo RAC3 missense variant [p.(Ala59Gly)] was reported previously in an individual with thin corpus callosum and global developmental delay, although the phenotype was felt to be more reminiscent of Robinow syndrome (PMID: 29276006). Sources: Literature, Expert Review, NHS GMS |
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Fetal anomalies v1.614 | ISCA-46302-Gain |
Catherine Snow Region: ISCA-46302-Gain was added Region: ISCA-46302-Gain was added to Fetal anomalies. Sources: ClinGen for-review tags were added to Region: ISCA-46302-Gain. Mode of inheritance for Region: ISCA-46302-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for Region: ISCA-46302-Gain were set to 22518125; 17504899; 20685758 Phenotypes for Region: ISCA-46302-Gain were set to gonadal dysgenesis Review for Region: ISCA-46302-Gain was set to AMBER Added comment: Addition of region inline with ClinGen region. Reviewed by GEL clinical for application for panel the phenotype, may escape detection in fetal life. The fetal team have rated the gene NR0B1 green, the CNV should be added too. Sources: ClinGen |
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Fetal anomalies v1.548 | STRADA | Arina Puzriakova Phenotypes for gene: STRADA were changed from Polyhydramnios, megalencephaly, and symptomatic epilepsy to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.547 | STRADA | Arina Puzriakova Classified gene: STRADA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.547 | STRADA | Arina Puzriakova Gene: strada has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.546 | STRADA | Arina Puzriakova Tag for-review tag was added to gene: STRADA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.190 | ADAMTS3 | Arina Puzriakova Publications for gene: ADAMTS3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 Gene: adamts3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |
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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 |
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Fetal anomalies v0.318 | ADAMTS17 | Rebecca Foulger edited their review of gene: ADAMTS17: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.204 | ADAMTS17 | Rebecca Foulger Publications for gene: ADAMTS17 were set to 19836009; 22486325; 24940034 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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). |
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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) |
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Fetal anomalies v0.134 | ADAR | Rebecca Foulger edited their review of gene: ADAR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome 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 | ADA | Rebecca Foulger edited their review of gene: ADA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. 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 ADA gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ADAMTSL2 | Rebecca Foulger edited their review of gene: ADAMTSL2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome 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 | ADAMTS10 | Rebecca Foulger edited their review of gene: ADAMTS10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | NOTCH1 | Rebecca Foulger edited their review of gene: NOTCH1: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Clefting', 'Skeletal dysplasia' and 'Limb disorders' panels. Sufficient evidence for causation: >3 unrelated cases reported for variants in NOTCH1 causing Adams-Oliver type 5 syndrome, as reviewed on the 'Limb disorders' panel.; Changed rating: GREEN; Changed publications: 27077170, 25132448, 25963545; Changed phenotypes: Adams-Oliver syndrome 5, 616028 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | RBPJ | Rebecca Foulger edited their review of gene: RBPJ: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Skeletal dysplasia' and 'Limb disorders' panels with the 'Adams-Oliver syndrome 3, 614219' phenotype. Sufficient cases to support causation: 2 families reported in OMIM from PMID:22883147, plus additional cases of RBPJ variants causing Adams-Oliver syndrome 3 in PMID:28160419.; Changed rating: GREEN; Changed publications: 22883147, 28160419; Changed phenotypes: Adams-Oliver syndrome 3, 614814 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | DOCK6 | Rebecca Foulger edited their review of gene: DOCK6: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Skeletal dysplasia', 'Clefting', and 'Limb disorders' panels with the 'Adams-Oliver syndrome 2, 614219' phenotype. Sufficient (>3) unrelated cases in OMIM of DOCK6 variants associated with MIM:614219.; Changed rating: GREEN; Changed publications: 23522784, 25824905, 21820096; Changed phenotypes: Adams-Oliver syndrome 2, 614219 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | ARHGAP31 | Rebecca Foulger edited their review of gene: ARHGAP31: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Skeletal dysplasia', 'Clefting', and 'Limb disorders panels with the 'Adams-Oliver syndrome 1, 100300' phenotype. 2 variants reported for MIM:100300 in OMIM from PMID:21565291, plus another case in Meester et al (2018) (PMID:29924900).; Changed rating: GREEN; Changed publications: 21565291, 29924900; Changed phenotypes: Adams-Oliver syndrome 1, 100300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.33 | NOTCH1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s), and Helen Brittain and Anna de Burca (Genomics England Clinical team) had noted that 'ADAMS OLIVER SYNDROME' is fetally-relevant. Sufficient cases to support causation, as reviewed on the Limb disorder panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.28 | RBPJ | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (ADAMS OLIVER SYNDROME) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). Although OMIM lists 2 unrelated cases, further cases supporting causation are provided in PMID:28160419, as detailed on the 'Limb disorders' panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.19 | DOCK6 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (ADAMS-OLIVER SYNDROME 2) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.15 | ARHGAP31 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (ADAMS-OLIVER SYNDROME 1) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.14 | ARHGAP31 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (ADAMS-OLIVER SYNDROME 1) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | RBPJ | Rebecca Foulger commented on gene: RBPJ: DDG2P rating in original PAGE list: Probable for ADAMS OLIVER SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ADAR | Rebecca Foulger reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ADAMTSL2 | Rebecca Foulger reviewed gene: ADAMTSL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ADAMTS17 | Rebecca Foulger reviewed gene: ADAMTS17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ADAMTS10 | Rebecca Foulger reviewed gene: ADAMTS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ADA | Rebecca Foulger reviewed gene: ADA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | SCN1B | Rebecca Foulger Added phenotypes BRUGADA SYNDROME 5 for gene: SCN1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | RBPJ |
Rebecca Foulger gene: RBPJ was added gene: RBPJ was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RBPJ were set to ADAMS OLIVER SYNDROME |
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Fetal anomalies v0.1 | NOTCH1 | Rebecca Foulger Added phenotypes ADAMS OLIVER SYNDROME for gene: NOTCH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | EOGT |
Rebecca Foulger gene: EOGT was added gene: EOGT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EOGT were set to ADAMS OLIVER SYNDROME |
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Fetal anomalies v0.1 | DOCK6 |
Rebecca Foulger gene: DOCK6 was added gene: DOCK6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOCK6 were set to ADAMS-OLIVER SYNDROME 2 |
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Fetal anomalies v0.1 | DLL4 |
Rebecca Foulger gene: DLL4 was added gene: DLL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DLL4 were set to ADAMS-OLIVER SYNDROME 6 |
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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 |
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Fetal anomalies v0.1 | ARHGAP31 |
Rebecca Foulger gene: ARHGAP31 was added gene: ARHGAP31 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARHGAP31 were set to ADAMS-OLIVER SYNDROME 1 |
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Fetal anomalies v0.1 | ADAR | Rebecca Foulger Added phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE for gene: ADAR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | ADAR | Rebecca Foulger Added phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE for gene: ADAR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | ADAR |
Rebecca Foulger gene: ADAR was added gene: ADAR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ADAR were set to DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 |
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Fetal anomalies v0.1 | ADAMTSL2 |
Rebecca Foulger gene: ADAMTSL2 was added gene: ADAMTSL2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1 231050 |
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Fetal anomalies v0.1 | ADAMTS17 |
Rebecca Foulger gene: ADAMTS17 was added gene: ADAMTS17 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani-like syndrome 613195 |
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Fetal anomalies v0.1 | ADAMTS10 |
Rebecca Foulger gene: ADAMTS10 was added gene: ADAMTS10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive 277600 |
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Fetal anomalies v0.1 | ADA |
Rebecca Foulger gene: ADA was added gene: ADA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADA were set to ADENOSINE DEAMINASE DEFICIENCY |