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Clefting v4.111 | GMNN | Arina Puzriakova Phenotypes for gene: GMNN were changed from Meier-Gorlin syndrome 6, 616835 to Meier-Gorlin syndrome 6, OMIM:616835 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.110 | ATR | Arina Puzriakova Phenotypes for gene: ATR were changed from SECKEL SYNDROME 1; SCKL1 to Seckel syndrome 1, OMIM:210600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.110 | ATR | Arina Puzriakova Mode of inheritance for gene: ATR was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.109 | GLI3 | Arina Puzriakova Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome, 146510 to Pallister-Hall syndrome, OMIM:146510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.108 | STAMBP | Arina Puzriakova Phenotypes for gene: STAMBP were changed from MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP to Microcephaly-capillary malformation syndrome, OMIM:614261 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.107 | PIK3R2 | Arina Puzriakova Phenotypes for gene: PIK3R2 were changed from MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.106 | EFNB1 | Arina Puzriakova Phenotypes for gene: EFNB1 were changed from CRANIOFRONTONASAL SYNDROME; CFNS to Craniofrontonasal dysplasia, OMIM:304110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.105 | DYNC2H1 | Arina Puzriakova Phenotypes for gene: DYNC2H1 were changed from SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3 to Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.104 | LRRC32 | Achchuthan Shanmugasundram Classified gene: LRRC32 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.104 | LRRC32 | Achchuthan Shanmugasundram Gene: lrrc32 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.103 | LRRC32 |
Achchuthan Shanmugasundram gene: LRRC32 was added gene: LRRC32 was added to Clefting. Sources: Literature founder-effect tags were added to gene: LRRC32. Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRRC32 were set to 30976112; 35656379 Phenotypes for gene: LRRC32 were set to Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074 Review for gene: LRRC32 was set to AMBER Added comment: PMID:30976112 reported two unrelated families with global developmental delay, cleft palate, and proliferative retinopathy and they were identified with the same homozygous LRRC32 variant c.1630C>T/ p.Arg544Ter. This variant was suggested to be founder variant, as indicated by haplotype analysis. PMID:35656379 reported a different homozygous LRRC32 variant (c.1354 G > A/ p.Glu452Lys) in a 15-year-old male with cleft palate, prenatal and postnatal severe growth retardation, global developmental delay, dysmorphic facial features and progressive vitreoretinopathy. This gene has already been associated with relevant phenotypes in OMIM (MIM #619074), but not yet in Gene2Phenotype. Sources: Literature |
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Clefting v4.100 | TBX1 | Sarah Leigh Tag Q1_23_promote_green was removed from gene: TBX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.100 | RAD21 | Sarah Leigh Tag Q4_22_promote_green was removed from gene: RAD21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.100 | TBX1 | Sarah Leigh reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.100 | RAD21 | Sarah Leigh reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.99 | TBX1 |
Sarah Leigh Source Expert Review Green was added to TBX1. Source NHS GMS was added to TBX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Clefting v4.99 | RAD21 |
Sarah Leigh Source Expert Review Green was added to RAD21. Source NHS GMS was added to RAD21. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Clefting v4.98 | ALX1 | Sarah Leigh Phenotypes for gene: ALX1 were changed from ?Frontonasal dysplasia 3, 613456 to Frontonasal dysplasia 3, OMIM:613456; frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, MONDO:0013271 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.97 | ALX1 | Sarah Leigh Publications for gene: ALX1 were set to 20451171; 27324866; 26610632 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.96 | ALX1 | Sarah Leigh Tag Q3_23_promote_green tag was added to gene: ALX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.96 | ALX1 | Sarah Leigh Classified gene: ALX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.96 | ALX1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.96 | ALX1 | Sarah Leigh Gene: alx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.95 | ALX1 | Sarah Leigh reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.95 | TP63 | Arina Puzriakova Phenotypes for gene: TP63 were changed from Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292; Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400; EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting); AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260; Limb-mammary syndrome, 603543; ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3; Cleft lip to Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Orofacial cleft 8, OMIM:618149; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.94 | PTCH1 | Arina Puzriakova Phenotypes for gene: PTCH1 were changed from BASAL CELL NEVUS SYNDROME; BCNS, HOLOPROSENCEPHALY 7; HPE7 to Holoprosencephaly 7, OMIM:610828; Basal cell nevus syndrome 1, OMIM:109400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.93 | TBL1XR1 | Achchuthan Shanmugasundram Classified gene: TBL1XR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.93 | TBL1XR1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although three patients are reported with clefting in total, this represents a small fraction of total cases with monoallelic TBL1XR1 variants. Hence, this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.93 | TBL1XR1 | Achchuthan Shanmugasundram Gene: tbl1xr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.92 | TBL1XR1 |
Achchuthan Shanmugasundram gene: TBL1XR1 was added gene: TBL1XR1 was added to Clefting. Sources: Literature Mode of inheritance for gene: TBL1XR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBL1XR1 were set to 28687524; 37010288 Phenotypes for gene: TBL1XR1 were set to Pierpont syndrome, OMIM:602342 Review for gene: TBL1XR1 was set to AMBER Added comment: PMID:28687524 - A seven year-old boy reported with severe developmental delays, hypotonia and dysmorphic features and identified with a de novo heterozygous variant (p.Tyr446Cys) in TBL1XR1 gene had submucous cleft palate. DECIPHER database - One of 34 patients with heterozygous sequence variants in TBL1XR1 gene in DECIPHER database had orofacial cleft and another patient had unilateral cleft lip and palate. Sources: Literature |
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Clefting v4.91 | CDK13 |
Achchuthan Shanmugasundram changed review comment from: PMID:29222009 - One of three patients reported with de novo heterozygous CDK13 variants had submucosal cleft palate. DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes. Sources: Literature; to: Clefting was reported only in a minor proportion of patients with monoallelic CDK13 variants. PMID:29222009 - One of three patients reported with de novo heterozygous CDK13 variants had submucosal cleft palate. DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes. Sources: Literature |
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Clefting v4.91 | CDK13 |
Achchuthan Shanmugasundram changed review comment from: PMID:29222009 - One of three patients reported with de novo heterozygous CDK13 variants had submucosal cleft palate. DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes. Sources: Literature; to: PMID:29222009 - One of three patients reported with de novo heterozygous CDK13 variants had submucosal cleft palate. DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes. Sources: Literature |
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Clefting v4.91 | CDK13 |
Achchuthan Shanmugasundram gene: CDK13 was added gene: CDK13 was added to Clefting. Sources: Literature Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDK13 were set to 29222009; 37010288 Review for gene: CDK13 was set to RED Added comment: PMID:29222009 - One of three patients reported with de novo heterozygous CDK13 variants had submucosal cleft palate. DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes. Sources: Literature |
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Clefting v4.90 | NEB |
Achchuthan Shanmugasundram changed review comment from: PMID:12207937 - A 9 month-old boy from one of five families affected by nemaline myopathy and reported with NEB variants had cleft palate. This patient was homozygous for 1-bp deletion in exon 184, which was also found in the mother, whereas no DNA was available from father. PMID:21798101 - Two siblings were reported with severe arthrogryposis multiplex congenital and were identified with compound heterozygous variants in NEB gene (c.1152 + 1G > T & c.11318_11319del), of which one patient had cleft palate. PMID:33376055 - A male foetus of consanguineous parents with a severe congenital syndrome characterized by arthrogryposis detected at 13 weeks of gestation had cleft palate and was identified with homozygous splice-site NEB variant (c.19,102-1G>T). DECIPHER databse - Of 10 patients with biallelic (compound heterozygous or homozygous) sequence variants in NEB gene reported in DECIPHER database, one patient with compound heterozygous NEB variants had bifid uvula. Sources: Literature; to: PMID:12207937 - A 9 month-old boy from one of five families affected by nemaline myopathy and reported with NEB variants had cleft palate. This patient was homozygous for 1-bp deletion in exon 184, which was also found in the mother, whereas no DNA was available from father. PMID:21798101 - Two siblings were reported with severe arthrogryposis multiplex congenital and were identified with compound heterozygous variants in NEB gene (c.1152 + 1G > T & c.11318_11319del), of which one patient had cleft palate. PMID:33376055 - A male foetus of consanguineous parents with a severe congenital syndrome characterized by arthrogryposis detected at 13 weeks of gestation had cleft palate and was identified with homozygous splice-site NEB variant (c.19,102-1G>T). DECIPHER databse - Of 10 patients with biallelic (compound heterozygous or homozygous) sequence variants in NEB gene reported in DECIPHER database, one patient with compound heterozygous NEB variants had bifid uvula. Cleft palate has been associated as one of the clinical presentations of Arthrogryposis multiplex congenita 6 (MIM #619334) in OMIM. Sources: Literature |
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Clefting v4.90 | NEB | Achchuthan Shanmugasundram Publications for gene: NEB were set to 12207937; 21798101; 33376055 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.89 | NEB | Achchuthan Shanmugasundram edited their review of gene: NEB: Changed publications to: 12207937, 21798101, 33376055, 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.89 | ECEL1 | Achchuthan Shanmugasundram Classified gene: ECEL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.89 | ECEL1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are more than three cases reported with clefting, it is only present in a small subsection (<10%) of patients with ECEL1 biallelic variants. Hence, this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.89 | ECEL1 | Achchuthan Shanmugasundram Gene: ecel1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.88 | NEB | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Although there are three unrelated cases reported with cleft palate in literature and a case reported with bifid uvula in the DECIPHER project, clefting has not been consistently reported as a phenotype in patients with biallelic NEB variants and is not fully penetrant in some families .; to: Comment on list classification: Although there are three unrelated cases reported with cleft palate in literature and a case reported with bifid uvula in the DECIPHER project, clefting has not been consistently reported as a phenotype in patients with biallelic NEB variants and is not fully penetrant in at least one family with clefting. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.88 | NEB | Achchuthan Shanmugasundram Classified gene: NEB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.88 | NEB | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are three unrelated cases reported with cleft palate in literature and a case reported with bifid uvula in the DECIPHER project, clefting has not been consistently reported as a phenotype in patients with biallelic NEB variants and is not fully penetrant in some families . | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.88 | NEB | Achchuthan Shanmugasundram Gene: neb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.87 | NEB |
Achchuthan Shanmugasundram gene: NEB was added gene: NEB was added to Clefting. Sources: Literature Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEB were set to 12207937; 21798101; 33376055 Phenotypes for gene: NEB were set to Arthrogryposis multiplex congenita 6, OMIM:619334 Review for gene: NEB was set to AMBER Added comment: PMID:12207937 - A 9 month-old boy from one of five families affected by nemaline myopathy and reported with NEB variants had cleft palate. This patient was homozygous for 1-bp deletion in exon 184, which was also found in the mother, whereas no DNA was available from father. PMID:21798101 - Two siblings were reported with severe arthrogryposis multiplex congenital and were identified with compound heterozygous variants in NEB gene (c.1152 + 1G > T & c.11318_11319del), of which one patient had cleft palate. PMID:33376055 - A male foetus of consanguineous parents with a severe congenital syndrome characterized by arthrogryposis detected at 13 weeks of gestation had cleft palate and was identified with homozygous splice-site NEB variant (c.19,102-1G>T). DECIPHER databse - Of 10 patients with biallelic (compound heterozygous or homozygous) sequence variants in NEB gene reported in DECIPHER database, one patient with compound heterozygous NEB variants had bifid uvula. Sources: Literature |
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Clefting v4.86 | ECEL1 |
Achchuthan Shanmugasundram changed review comment from: PMID:3013119 - Seven individuals from four unrelated families were reported with a wide phenotypic spectrum including severe congenital contractural syndromes and distal arthrogryposis type 5D and were identified with biallelic variants in ECEL1 gene. Of these two individuals from two different families presented with cleft palate. However, literature review in this publication showed only three patients from a total of 34 had cleft palate (9%). DECIPHER database - The only patient reported in DECIPHER with compound heterozygous sequence variants in ECEL1 gene had cleft soft palate. This gene was associated with distal arthrogryposis in both OMIM (MIM #615065) and Gene2Phenotype ('definitive' rating in the DD panel). OMIM recorded cleft palate as one of the clinical manifestations affecting some patients with this disorder. Sources: Literature; to: PMID:3013119 - Seven individuals from four unrelated families were reported with a wide phenotypic spectrum including severe congenital contractural syndromes and distal arthrogryposis type 5D and were identified with biallelic variants in ECEL1 gene. Of these two individuals from two different families presented with cleft palate. However, literature review in this publication showed that only three patients from a total of 34 patients with biallelic ECEL1 variants had cleft palate (9%). DECIPHER database - The only patient reported in DECIPHER with compound heterozygous sequence variants in ECEL1 gene had cleft soft palate. This gene was associated with distal arthrogryposis in both OMIM (MIM #615065) and Gene2Phenotype ('definitive' rating in the DD panel). OMIM recorded cleft palate as one of the clinical manifestations affecting some patients with this disorder. Sources: Literature |
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Clefting v4.86 | ECEL1 |
Achchuthan Shanmugasundram gene: ECEL1 was added gene: ECEL1 was added to Clefting. Sources: Literature Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECEL1 were set to 30131190; 37010288 Phenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D, OMIM:615065 Review for gene: ECEL1 was set to AMBER Added comment: PMID:3013119 - Seven individuals from four unrelated families were reported with a wide phenotypic spectrum including severe congenital contractural syndromes and distal arthrogryposis type 5D and were identified with biallelic variants in ECEL1 gene. Of these two individuals from two different families presented with cleft palate. However, literature review in this publication showed only three patients from a total of 34 had cleft palate (9%). DECIPHER database - The only patient reported in DECIPHER with compound heterozygous sequence variants in ECEL1 gene had cleft soft palate. This gene was associated with distal arthrogryposis in both OMIM (MIM #615065) and Gene2Phenotype ('definitive' rating in the DD panel). OMIM recorded cleft palate as one of the clinical manifestations affecting some patients with this disorder. Sources: Literature |
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Clefting v4.85 | CDKL5 |
Achchuthan Shanmugasundram changed review comment from: Sources: Literature; to: Of 16 patients with sequence variants in CDKL5 in the DECIPHER database (https://www.deciphergenomics.org/), one of them had median cleft palate and another one had orofacial cleft. Sources: Literature |
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Clefting v4.85 | CDKL5 |
Achchuthan Shanmugasundram gene: CDKL5 was added gene: CDKL5 was added to Clefting. Sources: Literature Mode of inheritance for gene: CDKL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDKL5 were set to 37010288 Review for gene: CDKL5 was set to RED Added comment: Sources: Literature |
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Clefting v4.83 | CSNK2A1 |
Achchuthan Shanmugasundram gene: CSNK2A1 was added gene: CSNK2A1 was added to Clefting. Sources: Literature Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CSNK2A1 were set to 37010288 Review for gene: CSNK2A1 was set to RED Added comment: Of 21 patients with sequence variants in CSNK2A1 gene in the DECIPHER database (https://www.deciphergenomics.org/), two of them had cleft palate. Sources: Literature |
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Clefting v4.82 | SOX5 |
Achchuthan Shanmugasundram gene: SOX5 was added gene: SOX5 was added to Clefting. Sources: Literature Mode of inheritance for gene: SOX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX5 were set to 37010288 Review for gene: SOX5 was set to RED Added comment: Of 19 patients with sequence variants in SOX5 gene in the DECIPHER database (https://www.deciphergenomics.org/), one had cleft palate and another one had bifid uvula/ submucous cleft hard palate. Sources: Literature |
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Clefting v4.81 | WDR26 |
Achchuthan Shanmugasundram gene: WDR26 was added gene: WDR26 was added to Clefting. Sources: Literature Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR26 were set to 37010288 Review for gene: WDR26 was set to RED Added comment: Of 15 patients with sequence variants in WDR26 in the DECIPHER database (https://www.deciphergenomics.org/), two of them had (median) cleft palate. Sources: Literature |
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Clefting v4.80 | AMOTL1 | Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: AMOTL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.80 | AMOTL1 | Arina Puzriakova Publications for gene: AMOTL1 were set to 33026150; 30375152 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.79 | AMOTL1 | Arina Puzriakova Classified gene: AMOTL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.79 | AMOTL1 |
Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to rate this gene as Green at the next GMS panel update. At least 16 individuals from 12 families have been identified with heterozygous variants in a AMOTL1 hotspot (PMIDs: 30375152; 33026150; 36751037). The most common clinical features were orofacial clefting (15/16; 94%), large and dysplastic ears (10/16; 62.5%), congenital heart disease (8/16; 50%), tall stature (7/16; 44%), hearing loss (5/16; 31%), liver disease (5/16; 31%), and neurodevelopmental disease (5/16; 31%). |
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Clefting v4.79 | AMOTL1 | Arina Puzriakova Gene: amotl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.78 | AMOTL1 | Irina Ziravecka reviewed gene: AMOTL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 36751037; Phenotypes: orofacial clefting, cardiac anomalies, tall stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.78 | UBE3B | Achchuthan Shanmugasundram Classified gene: UBE3B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.78 | UBE3B | Achchuthan Shanmugasundram Gene: ube3b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.77 | UBE3B |
Achchuthan Shanmugasundram gene: UBE3B was added gene: UBE3B was added to Clefting. Sources: Literature Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE3B were set to 23200864; 23687348; 37010288 Phenotypes for gene: UBE3B were set to Kaufman oculocerebrofacial syndrome, OMIM:244450 Review for gene: UBE3B was set to AMBER Added comment: PMID:23687348 - One of two patients reported with biallelic variants in UBE3B in this study and one of four patients reported in PMID:23200864 and reviewed here had submucous cleft palate. DECIPHER database - One of three patients with homozygous sequence variants in UBE3B had median cleft palate. Sources: Literature |
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Clefting v4.76 | TCF12 |
Achchuthan Shanmugasundram gene: TCF12 was added gene: TCF12 was added to Clefting. Sources: Literature Mode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCF12 were set to 23354436; 31353793; 37010288 Phenotypes for gene: TCF12 were set to Craniosynostosis 3, OMIM:615314 Review for gene: TCF12 was set to RED Added comment: Clefting has only been rarely reported in patients with TCF12 variants and hence this gene should be rated red. PMID:23354436 - One of 73 individuals (from 38 families) reported with craniosynostosis and identified with heterozygous variants in TCF12 gene had cleft lip and cleft palate. PMID:31353793 - Of two cases reported with heterozygous TCF12 variants, one had hidden cleft palate. DECIPHER database - One of 11 patients with heterozygous sequence variants in TCF12 had bifid uvula. Sources: Literature |
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Clefting v4.75 | SOX11 |
Achchuthan Shanmugasundram gene: SOX11 was added gene: SOX11 was added to Clefting. Sources: Literature Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX11 were set to 29437512; 37010288 Phenotypes for gene: SOX11 were set to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866 Review for gene: SOX11 was set to RED Added comment: Cleft palate is a minor clinical indication that is only observed in <10% of patients with SOX11 variants. Hence, this gene should be rated red. PMID:29437512 - A 14-year-old boy with a phenotype resembling mild Coffin-Siris syndrome and identified with heterozygous SOX11 variant had cleft palate. However, cleft palate was not present in any of the previously reported patients (12 cases) reviewed in this publication. DECIPHER database - Of 12 patients with heterozygous sequence variants in SOX11 gene, only one patient had cleft soft palate. Sources: Literature |
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Clefting v4.74 | SMARCB1 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.74 | SMARCB1 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.74 | SMARCB1 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.74 | SMARCB1 | Achchuthan Shanmugasundram Classified gene: SMARCB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.74 | SMARCB1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are 3 unrelated cases in total, these represent only a minor fraction of patients (from total of 23) reported with SMARCB1 variants. Hence, this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.74 | SMARCB1 | Achchuthan Shanmugasundram Gene: smarcb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.74 | SMARCB1 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.74 | SMARCB1 | Achchuthan Shanmugasundram Classified gene: SMARCB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.74 | SMARCB1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are 3 unrelated cases in total, these represent only a minor fraction of patients (from total of 23) reported with SMARCB1 variants. Hence, this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.74 | SMARCB1 | Achchuthan Shanmugasundram Gene: smarcb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.74 | SMARCB1 | Achchuthan Shanmugasundram Classified gene: SMARCB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.74 | SMARCB1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are 3 unrelated cases in total, these represent only a minor fraction of patients (from total of 23) reported with SMARCB1 variants. Hence, this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.74 | SMARCB1 | Achchuthan Shanmugasundram Gene: smarcb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.74 | SMARCB1 | Achchuthan Shanmugasundram Classified gene: SMARCB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.74 | SMARCB1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are 3 unrelated cases in total, these represent only a minor fraction of patients (from total of 23) reported with SMARCB1 variants. Hence, this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.74 | SMARCB1 | Achchuthan Shanmugasundram Gene: smarcb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.73 | SMARCB1 | Achchuthan Shanmugasundram Classified gene: SMARCB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.73 | SMARCB1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are 3 unrelated cases in total, these represent only a minor fraction of patients (from total of 23) reported with SMARCB1 variants. Hence, this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.73 | SMARCB1 | Achchuthan Shanmugasundram Gene: smarcb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.72 | SMARCB1 |
Achchuthan Shanmugasundram gene: SMARCB1 was added gene: SMARCB1 was added to Clefting. Sources: Literature Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCB1 were set to 25168959; 37010288 Phenotypes for gene: SMARCB1 were set to Coffin-Siris syndrome 3, OMIM:614608 Review for gene: SMARCB1 was set to AMBER Added comment: PMID:25168959 - Two of ten patients reported with Coffin-Siris syndrome and heterozygous variants in SMARCB1 had cleft palate. DECIPHER database - One of 13 patients identified with heterozygous sequence variants in SMARCB1 had cleft palate. Sources: Literature |
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Clefting v4.71 | SIN3A |
Achchuthan Shanmugasundram gene: SIN3A was added gene: SIN3A was added to Clefting. Sources: Literature Mode of inheritance for gene: SIN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SIN3A were set to 33437032; 37010288 Phenotypes for gene: SIN3A were set to Witteveen-Kolk syndrome, OMIM:613406 Review for gene: SIN3A was set to RED Added comment: Clefting was reported only in a minor fraction of patients (<10%) and hence should be rated red. PMID:33437032 - Of 28 patients with heterozugous variants in SIN3A gene, one patient had submucous cleft hard palate and another with deletion variant had orofacial cleft (both these are reported in DECIPHER database). DECIPHER database - In addition to the above mentioned patients, one with heterozygous sequence variant had submucous cleft soft panel (from 31 in total), while an additional patient with deletion had cleft hard palate (from 54 patients with CNV variants). Sources: Literature |
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Clefting v4.70 | PUF60 |
Achchuthan Shanmugasundram changed review comment from: PMID:24140112 - One patient identified with heterozygous variant in PUF60 gene (p.His169Tyr) had cleft palate. PMID:27804958 - Five patients were reported with sequence variants in PUF60 gene and none of them had cleft lip/ palate as one of the clinical presentations. DECIPHER database - Of 27 patients with heterozygous sequence variants in PUF60, only one had submucous cleft hard palate. Sources: Literature; to: Clefting has only been identified in a minor fraction of patients with monoallelic variants in PUF60 gene and hence this gene should be rated red in this panel. PMID:24140112 - One patient identified with heterozygous variant in PUF60 gene (p.His169Tyr) had cleft palate. PMID:27804958 - Five patients were reported with sequence variants in PUF60 gene and none of them had cleft lip/ palate as one of the clinical presentations. DECIPHER database - Of 27 patients with heterozygous sequence variants in PUF60, only one had submucous cleft hard palate. Sources: Literature |
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Clefting v4.70 | PUF60 |
Achchuthan Shanmugasundram gene: PUF60 was added gene: PUF60 was added to Clefting. Sources: Literature Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PUF60 were set to 24140112; 27804958; 37010288 Phenotypes for gene: PUF60 were set to Verheij syndrome, OMIM:615583 Review for gene: PUF60 was set to RED Added comment: PMID:24140112 - One patient identified with heterozygous variant in PUF60 gene (p.His169Tyr) had cleft palate. PMID:27804958 - Five patients were reported with sequence variants in PUF60 gene and none of them had cleft lip/ palate as one of the clinical presentations. DECIPHER database - Of 27 patients with heterozygous sequence variants in PUF60, only one had submucous cleft hard palate. Sources: Literature |
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Clefting v4.69 | POLR2A |
Achchuthan Shanmugasundram gene: POLR2A was added gene: POLR2A was added to Clefting. Sources: Literature Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR2A were set to 31353023; 37010288 Phenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, OMIM:618603 Review for gene: POLR2A was set to RED Added comment: This gene should be rated red as clefting has only been reported in a minor fraction of patients with monoallelic variants in POLR2A. PMID:31353023 - 16 individuals were identified with heterozygous variants in POLR2A, of which only one patient had cleft lip. DECIPHER database - Of 14 patients with heterozygous sequence variants, one had cleft palate and another had bifid uvula. Sources: Literature |
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Clefting v4.68 | POLA1 |
Achchuthan Shanmugasundram changed review comment from: PMID:3100651 - Nine patients from five unrelated families were identified with POLA1 variants, of which one patient from family C (has two reported patients) was reported with bifid uvula. DECIPHER database - One of two patients with hemizygous sequence variants had bifid uvula. Sources: Literature; to: Bifid uvula is a minor clinical indication that is only found in two patients with POLA1 variants and it is not fully penetrant in the family. Hence, this gene should be rated red. PMID:3100651 - Nine patients from five unrelated families were identified with POLA1 variants, of which one patient from family C (has two reported patients) was reported with bifid uvula. DECIPHER database - One of two patients with hemizygous sequence variants had bifid uvula. Sources: Literature |
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Clefting v4.68 | POLA1 |
Achchuthan Shanmugasundram gene: POLA1 was added gene: POLA1 was added to Clefting. Sources: Literature Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: POLA1 were set to 31006512; 37010288 Review for gene: POLA1 was set to RED Added comment: PMID:3100651 - Nine patients from five unrelated families were identified with POLA1 variants, of which one patient from family C (has two reported patients) was reported with bifid uvula. DECIPHER database - One of two patients with hemizygous sequence variants had bifid uvula. Sources: Literature |
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Clefting v4.67 | NOTCH2 | Achchuthan Shanmugasundram Publications for gene: NOTCH2 were set to 9188663; 30329210; 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.67 | NOTCH2 | Achchuthan Shanmugasundram Publications for gene: NOTCH2 were set to 9188663; 30329210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.66 | NOTCH2 | Achchuthan Shanmugasundram edited their review of gene: NOTCH2: Changed publications to: 9188663, 30329210, 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.66 | NOTCH2 | Achchuthan Shanmugasundram Classified gene: NOTCH2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.66 | NOTCH2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are three cases reported with cleft lip/ palate or cleft of uvula, these are reported only in a minor proportion of patients and hence this gene can only be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.66 | NOTCH2 | Achchuthan Shanmugasundram Gene: notch2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.65 | NOTCH2 |
Achchuthan Shanmugasundram gene: NOTCH2 was added gene: NOTCH2 was added to Clefting. Sources: Literature Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH2 were set to 9188663; 30329210 Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome, OMIM:102500 Review for gene: NOTCH2 was set to AMBER Added comment: PMID:9188663 - An 8.5-year-old boy with NOTCH2 variant and Hajdu-Cheney syndrome was reported with cleft lip and palate. PMID:30329210 - A 32-year-old male patient with a de novo truncating variant in NOTCH2 and presenting with Hajdu-Cheney syndrome had high arched palate and cleft of uvula. DECIPHER database - One of seven patients with heterozygous sequence variants in NOTCH2 was identified with submucous cleft hard palate. Sources: Literature |
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Clefting v4.64 | MAGEL2 |
Achchuthan Shanmugasundram gene: MAGEL2 was added gene: MAGEL2 was added to Clefting. Sources: Literature Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAGEL2 were set to 31397880; 37010288 Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome, OMIM:615547 Review for gene: MAGEL2 was set to RED Added comment: Cleft palate is a minor feature of Schaaf-Yang syndrome and is present only in less than 10% of cases. Hence, this gene should be rated red. PMID:31397880 - One of five patients presented in this study with heterozygous variants in MAGEL2 gene had cleft palate. DECIPHER database - One of 20 patients with heterozygous sequence variants in MAGEL2 had cleft palate. Sources: Literature |
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Clefting v4.63 | EP300 |
Achchuthan Shanmugasundram changed review comment from: This gene should be rated red as clefting has only been reported in a very small fraction of patients (<5%) identified with monoallleic variants in EP300. PMID:27648933 - One of 52 patients with Rubinstein-Taybi syndrome caused by monoallelic variants in EP300 gene had cleft lip and palate. DECIPHER database - Of 58 patients with heterozygous sequence variants in EP300, cleft palate, orofacial cleft and bifid uvula were found in one patient each. Sources: Literature; to: This gene should be rated red as clefting has only been reported in a very small fraction of patients (<5%) identified with monoallelic variants in EP300. PMID:27648933 - One of 52 patients with Rubinstein-Taybi syndrome caused by monoallelic variants in EP300 gene had cleft lip and palate. DECIPHER database - Of 58 patients with heterozygous sequence variants in EP300, cleft palate, orofacial cleft and bifid uvula were found in one patient each. Sources: Literature |
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Clefting v4.63 | EP300 |
Achchuthan Shanmugasundram gene: EP300 was added gene: EP300 was added to Clefting. Sources: Literature Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EP300 were set to 27648933; 37010288 Phenotypes for gene: EP300 were set to Rubinstein-Taybi syndrome 2, OMIM:613684 Review for gene: EP300 was set to RED Added comment: This gene should be rated red as clefting has only been reported in a very small fraction of patients (<5%) identified with monoallleic variants in EP300. PMID:27648933 - One of 52 patients with Rubinstein-Taybi syndrome caused by monoallelic variants in EP300 gene had cleft lip and palate. DECIPHER database - Of 58 patients with heterozygous sequence variants in EP300, cleft palate, orofacial cleft and bifid uvula were found in one patient each. Sources: Literature |
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Clefting v4.62 | CHD3 |
Achchuthan Shanmugasundram changed review comment from: Of 28 patients with heterozygous sequence variants in CHD3 gene from DECIPHER database, one patient had cleft palate and another had submucous cleft hard palate. Sources: Literature; to: Of 28 patients with heterozygous sequence variants in CHD3 gene from DECIPHER database, one patient had cleft palate and another had submucous cleft hard palate. Sources: Literature |
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Clefting v4.62 | CHD3 |
Achchuthan Shanmugasundram gene: CHD3 was added gene: CHD3 was added to Clefting. Sources: Literature Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD3 were set to 37010288 Phenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome, OMIM:618205 Review for gene: CHD3 was set to RED Added comment: Of 28 patients with heterozygous sequence variants in CHD3 gene from DECIPHER database, one patient had cleft palate and another had submucous cleft hard palate. Sources: Literature |
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Clefting v4.61 | AUTS2 | Achchuthan Shanmugasundram Classified gene: AUTS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.61 | AUTS2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five cases reported with cleft lip/ palate. However, clefting has only been reported in less than 10% of patients with monoalellic variants in AUTS2 from the DECIPHER database. Hence, this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.61 | AUTS2 | Achchuthan Shanmugasundram Gene: auts2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.60 | AUTS2 |
Achchuthan Shanmugasundram gene: AUTS2 was added gene: AUTS2 was added to Clefting. Sources: Literature Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AUTS2 were set to 31788251; 37010288 Phenotypes for gene: AUTS2 were set to Intellectual developmental disorder, autosomal dominant 26, OMIM:615834 Review for gene: AUTS2 was set to AMBER Added comment: PMID:31788251 - A patient identified with a de novo heterozygous AUTS2 variant (c.1464_1467del ACTC/ p.Tyr488Ter) was reported with autism and cleft lip and palate. DECIPHER database - Of 44 patients reported with heterozygous sequence variants, 4 patients had cleft lip or cleft palate (2 - cleft palate; 1 - cleft soft palate; 1 - unilateral cleft lip). Sources: Literature |
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Clefting v4.59 | ARID1A | Achchuthan Shanmugasundram Phenotypes for gene: ARID1A were changed from to Coffin-Siris syndrome 2, OMIM:614607 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.58 | ARID1A | Achchuthan Shanmugasundram edited their review of gene: ARID1A: Changed phenotypes to: Coffin-Siris syndrome 2, OMIM:614607 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.58 | ARID1A | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Clefting is a minor feature on patients with monoallelic variants in ARID1A gene and it can be rated amber although there are three cases with clefting form a total of 34 cases.; to: Comment on list classification: Clefting is a minor feature on patients with monoallelic variants in ARID1A gene and it should be rated amber although there are three cases with clefting (from a total of 34 cases). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.58 | ARID1A | Achchuthan Shanmugasundram Classified gene: ARID1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.58 | ARID1A | Achchuthan Shanmugasundram Added comment: Comment on list classification: Clefting is a minor feature on patients with monoallelic variants in ARID1A gene and it can be rated amber although there are three cases with clefting form a total of 34 cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.58 | ARID1A | Achchuthan Shanmugasundram Gene: arid1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.57 | ARID1A |
Achchuthan Shanmugasundram gene: ARID1A was added gene: ARID1A was added to Clefting. Sources: Literature Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID1A were set to 25168959; 37010288 Review for gene: ARID1A was set to AMBER Added comment: PMID:25168959 - Two of eight patients with heterozygous variants in ARID1A gene had cleft palate. DECIPHER database - One of 26 patients with heterozygous sequence variants in ARID1A gene had cleft palate. Sources: Literature |
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Clefting v4.56 | ADNP |
Achchuthan Shanmugasundram changed review comment from: PMID:29724491 - One child from a worldwide cohort of 78 individuals with variants in ADNP gene had submucous cleft palate. DECIPHER database - Of 66 patients identified with heterozygous sequence variants in ADNP gene, one each (three in total) was reported with cleft soft palate, submucous cleft hard palate and submucous cleft lip. Sources: Literature; to: Cleft lip/ palate has only been reported rarely in patients identified with monoallelic variants in ADNP gene. PMID:29724491 - One child from a worldwide cohort of 78 individuals with variants in ADNP gene had submucous cleft palate. DECIPHER database - Of 66 patients identified with heterozygous sequence variants in ADNP gene, one each (three in total) was reported with cleft soft palate, submucous cleft hard palate and submucous cleft lip. Sources: Literature |
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Clefting v4.56 | ADNP |
Achchuthan Shanmugasundram gene: ADNP was added gene: ADNP was added to Clefting. Sources: Literature Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADNP were set to 29724491; 37010288 Phenotypes for gene: ADNP were set to Helsmoortel-van der Aa syndrome, OMIM:615873 Review for gene: ADNP was set to RED Added comment: PMID:29724491 - One child from a worldwide cohort of 78 individuals with variants in ADNP gene had submucous cleft palate. DECIPHER database - Of 66 patients identified with heterozygous sequence variants in ADNP gene, one each (three in total) was reported with cleft soft palate, submucous cleft hard palate and submucous cleft lip. Sources: Literature |
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Clefting v4.55 | ZC4H2 |
Achchuthan Shanmugasundram changed review comment from: PMID:31206972 - Of 42 families identified with variants in de novo and inherited heterozygous variants in ZC4H2 gene, eight patients had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database) DECIPHER database - Of 13 patients with monoallelic sequence variants, three patients had cleft palate. Cleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM. Sources: Literature; to: PMID:31206972 - Of 42 families identified with de novo and inherited variants in ZC4H2 gene, eight patients had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database) DECIPHER database - Of 13 patients with sequence variants, three patients had cleft palate. Cleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM. Sources: Literature |
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Clefting v4.55 | ZC4H2 | Achchuthan Shanmugasundram Mode of inheritance for gene: ZC4H2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.54 | ZC4H2 | Achchuthan Shanmugasundram edited their review of gene: ZC4H2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.54 | ZC4H2 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are ten patients reported with cleft palate. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are ten unrelated patients reported with cleft palate. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.54 | ZC4H2 |
Achchuthan Shanmugasundram changed review comment from: PMID:31206972 - Of 42 families identified with variants in de novo and inherited heterozygous variants in ZC4H2 gene, eight patients were had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database) DECIPHER database - Of 13 patients with monoallelic sequence variants, three patients had cleft palate. Cleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM. Sources: Literature; to: PMID:31206972 - Of 42 families identified with variants in de novo and inherited heterozygous variants in ZC4H2 gene, eight patients had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database) DECIPHER database - Of 13 patients with monoallelic sequence variants, three patients had cleft palate. Cleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM. Sources: Literature |
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Clefting v4.54 | ZC4H2 |
Achchuthan Shanmugasundram changed review comment from: PMID:31206972 - Of 42 families identified with variants in de novo and inherited heterozygous variants in ZC4H2 gene, eight patients were had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database) DECIPHER database - Of 13 patients with monoallelic sequence variants, three patients had cleft palate. Sources: Literature; to: PMID:31206972 - Of 42 families identified with variants in de novo and inherited heterozygous variants in ZC4H2 gene, eight patients were had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database) DECIPHER database - Of 13 patients with monoallelic sequence variants, three patients had cleft palate. Cleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM. Sources: Literature |
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Clefting v4.54 | ZC4H2 | Achchuthan Shanmugasundram Classified gene: ZC4H2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.54 | ZC4H2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are ten patients reported with cleft palate. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.54 | ZC4H2 | Achchuthan Shanmugasundram Gene: zc4h2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.53 | ZC4H2 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ZC4H2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.53 | ZC4H2 |
Achchuthan Shanmugasundram gene: ZC4H2 was added gene: ZC4H2 was added to Clefting. Sources: Literature Mode of inheritance for gene: ZC4H2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZC4H2 were set to 31206972; 37010288 Phenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, female-restricted, OMIM:301041 Review for gene: ZC4H2 was set to GREEN Added comment: PMID:31206972 - Of 42 families identified with variants in de novo and inherited heterozygous variants in ZC4H2 gene, eight patients were had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database) DECIPHER database - Of 13 patients with monoallelic sequence variants, three patients had cleft palate. Sources: Literature |
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Clefting v4.52 | TRRAP |
Achchuthan Shanmugasundram changed review comment from: PMID:30827496 - Out of 13 unrelated individuals with a complex syndromic neurodevelopmental disorder comprising global developmental delay and intellectual disability and identified with monoallelic variants in TRRAP gene, five had cleft lip and palate. DECIPHER database - Out of 18 patients with heterozygous sequence variants in TRRAP gene, two were reported with cleft lip and palate. Sources: Literature; to: PMID:30827496 - Out of 13 unrelated individuals with a complex syndromic neurodevelopmental disorder comprising global developmental delay and intellectual disability and identified with monoallelic variants in TRRAP gene, five had cleft lip and palate. DECIPHER database - Out of 18 patients with heterozygous sequence variants in TRRAP gene, two were reported with cleft lip and palate. OMIM has also recorded cleft lip and palate as clinical presentations of the syndrome associated with dominant variants in TRRAP (MIM #618454). Sources: Literature |
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Clefting v4.52 | TRRAP | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.52 | TRRAP | Achchuthan Shanmugasundram Classified gene: TRRAP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.52 | TRRAP | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be promoted to green rating at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.52 | TRRAP | Achchuthan Shanmugasundram Gene: trrap has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.52 | TRRAP | Achchuthan Shanmugasundram Classified gene: TRRAP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.52 | TRRAP | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be promoted green rating at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.52 | TRRAP | Achchuthan Shanmugasundram Gene: trrap has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.51 | TRRAP | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: TRRAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.51 | TRRAP |
Achchuthan Shanmugasundram gene: TRRAP was added gene: TRRAP was added to Clefting. Sources: Literature Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRRAP were set to 30827496; 37010288 Phenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism, OMIM:618454 Review for gene: TRRAP was set to GREEN Added comment: PMID:30827496 - Out of 13 unrelated individuals with a complex syndromic neurodevelopmental disorder comprising global developmental delay and intellectual disability and identified with monoallelic variants in TRRAP gene, five had cleft lip and palate. DECIPHER database - Out of 18 patients with heterozygous sequence variants in TRRAP gene, two were reported with cleft lip and palate. Sources: Literature |
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Clefting v4.50 | TRAF7 | Achchuthan Shanmugasundram Classified gene: TRAF7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.50 | TRAF7 | Achchuthan Shanmugasundram Gene: traf7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.49 | TRAF7 | Achchuthan Shanmugasundram Publications for gene: TRAF7 were set to 32376980; 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.49 | TRAF7 | Achchuthan Shanmugasundram Publications for gene: TRAF7 were set to 32376980 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.48 | TRAF7 | Achchuthan Shanmugasundram edited their review of gene: TRAF7: Changed publications to: 32376980, 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.48 | TRAF7 |
Achchuthan Shanmugasundram gene: TRAF7 was added gene: TRAF7 was added to Clefting. Sources: Literature Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRAF7 were set to 32376980 Phenotypes for gene: TRAF7 were set to Cardiac, facial, and digital anomalies with developmental delay, OMIM:618164 Review for gene: TRAF7 was set to AMBER Added comment: PMID:32376980 - 45 patients were identified with heterozygous variants in TRAF7 gene, of which one patient had cleft palate and three patients had submucous cleft palate. DECIPHER database - One of 15 patients with heterozygous sequence variants in TRAF7 gene had cleft palate as one of the clinical presentations. Sources: Literature |
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Clefting v4.47 | STAG2 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are ten cases identified with cleft lip/ palate, cleft soft palate or submucous cleft soft palate. Hence, this gene can be promoted to green rating at the next GMS review.; to: Comment on list classification: There are eight unrelated cases identified with cleft lip/ palate and two cases were identified with cleft soft palate or submucous cleft soft palate. Hence, this gene should be promoted to green rating at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.47 | STAG2 | Achchuthan Shanmugasundram Classified gene: STAG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.47 | STAG2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are ten cases identified with cleft lip/ palate, cleft soft palate or submucous cleft soft palate. Hence, this gene can be promoted to green rating at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.47 | STAG2 | Achchuthan Shanmugasundram Gene: stag2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.46 | STAG2 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: STAG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.46 | STAG2 |
Achchuthan Shanmugasundram gene: STAG2 was added gene: STAG2 was added to Clefting. Sources: Literature Mode of inheritance for gene: STAG2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: STAG2 were set to 28296084; 29263825; 30158690; 31334757; 33014403; 37010288 Phenotypes for gene: STAG2 were set to Holoprosencephaly 13, X-linked, OMIM:301043; Mullegama-Klein-Martinez syndrome, OMIM:301022 Review for gene: STAG2 was set to GREEN Added comment: PMID:33014403 - Two female patients identified with de novo variants in STAG2. One had cleft lip/ palate and other had cleft palate. In addition, five additional cases with cleft lip/ palate were also reported from literature review in this publication. DECIPHER database - Of ten patients with sequence variants in STAG2 gene, one each was identified with cleft palate, cleft soft palate and submucous cleft soft palate (PMID:37010288). Sources: Literature |
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Clefting v4.45 | SMARCA4 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SMARCA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.45 | SMARCA4 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.45 | SMARCA4 | Achchuthan Shanmugasundram Classified gene: SMARCA4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.45 | SMARCA4 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated cases with cleft plate and one case each with submucous cleft palate and bifid uvula. This gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.45 | SMARCA4 | Achchuthan Shanmugasundram Gene: smarca4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.44 | SMARCA4 | Achchuthan Shanmugasundram Classified gene: SMARCA4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.44 | SMARCA4 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated cases with cleft plate and one case each with submucous cleft palate and bifid uvula. This gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.44 | SMARCA4 | Achchuthan Shanmugasundram Gene: smarca4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.43 | SMARCA4 |
Achchuthan Shanmugasundram gene: SMARCA4 was added gene: SMARCA4 was added to Clefting. Sources: Literature Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCA4 were set to 25168959; 37010288 Phenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4, OMIM:614609 Review for gene: SMARCA4 was set to GREEN Added comment: PMID:25168959 - 4 of 12 patients with variants in SMARCA4 had cleft palate and another patient had submucous cleft palate. DECIPHER database - One of 22 patients with heterozygous sequence variants had cleft palate and another patient had bifid uvula (PMID:37010288) Sources: Literature |
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Clefting v4.42 | POGZ | Achchuthan Shanmugasundram Classified gene: POGZ as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.42 | POGZ | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are more than three unrelated cases reported with either cleft palate or bifid uvula in total, this phenotype is not consistently present in patients with monoallelic variants in POGZ gene. Hence, this gene should only be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.42 | POGZ | Achchuthan Shanmugasundram Gene: pogz has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.41 | POGZ | Achchuthan Shanmugasundram Publications for gene: POGZ were set to 26739615; 31782611 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.40 | POGZ |
Achchuthan Shanmugasundram changed review comment from: PMID:26739615 - Five unrelated individuals were identified with de novo truncating variants in POGZ gene, of which one individual had cleft palate and another one had bifid uvula. PMID:31782611 - In this cohort of 22 individuals with 21 different loss of function variants in POGZ, two patients were reported with bifid uvula. DECIPHER database - Of 42 patients with heterozygous sequence variants, one had cleft palate and another one had bifid uvula. The OMIM entry for White-Sutton syndrome (MIM #616364) does not currently include cleft lip/ palate as one of the clinical manifestations of this syndrome. Sources: Literature; to: PMID:26739615 - Five unrelated individuals were identified with de novo truncating variants in POGZ gene, of which one individual had cleft palate and another one had bifid uvula. PMID:31782611 - In this cohort of 22 individuals with 21 different loss of function variants in POGZ, two patients were reported with bifid uvula. DECIPHER database - Of 42 patients with heterozygous sequence variants, one had cleft palate and another one had bifid uvula (PMID:37010288). The OMIM entry for White-Sutton syndrome (MIM #616364) does not currently include cleft lip/ palate as one of the clinical manifestations of this syndrome. Sources: Literature |
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Clefting v4.40 | POGZ | Achchuthan Shanmugasundram edited their review of gene: POGZ: Changed publications to: 26739615, 31782611, 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.40 | POGZ |
Achchuthan Shanmugasundram gene: POGZ was added gene: POGZ was added to Clefting. Sources: Literature Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POGZ were set to 26739615; 31782611 Phenotypes for gene: POGZ were set to White-Sutton syndrome, OMIM:616364 Review for gene: POGZ was set to AMBER Added comment: PMID:26739615 - Five unrelated individuals were identified with de novo truncating variants in POGZ gene, of which one individual had cleft palate and another one had bifid uvula. PMID:31782611 - In this cohort of 22 individuals with 21 different loss of function variants in POGZ, two patients were reported with bifid uvula. DECIPHER database - Of 42 patients with heterozygous sequence variants, one had cleft palate and another one had bifid uvula. The OMIM entry for White-Sutton syndrome (MIM #616364) does not currently include cleft lip/ palate as one of the clinical manifestations of this syndrome. Sources: Literature |
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Clefting v4.39 | PGM1 | Achchuthan Shanmugasundram Classified gene: PGM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.39 | PGM1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>10 unrelated cases) for this gene to be rated green at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.39 | PGM1 | Achchuthan Shanmugasundram Gene: pgm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.38 | PGM1 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PGM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.38 | PGM1 | Achchuthan Shanmugasundram Phenotypes for gene: PGM1 were changed from Cleft palate to Congenital disorder of glycosylation, type It, OMIM:14921 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.37 | PGM1 | Achchuthan Shanmugasundram Publications for gene: PGM1 were set to 24499211; 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.37 | PGM1 | Achchuthan Shanmugasundram Publications for gene: PGM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.36 | PGM1 | Achchuthan Shanmugasundram Mode of inheritance for gene: PGM1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.35 | PGM1 |
Achchuthan Shanmugasundram changed review comment from: PMID:24499211 - 19 patients from 16 families with biallelic variants in PGM1 and presenting with CGG1T. Of these, 16 patients from 13 different families had cleft palate and/ or bifid uvula. DECIPHER database - Only one patient reported with compound heterozygous variant in PGM1 gene and this patient had cleft palate (PMID:37010288); to: PMID:24499211 - 19 patients from 16 families with biallelic variants in PGM1 and presenting with CGG1T. Of these, 16 patients from 13 different families had cleft palate and/ or bifid uvula. DECIPHER database - Only one patient reported with compound heterozygous variant in PGM1 gene and this patient had cleft palate (PMID:37010288) OMIM associated autosomal recessive PGM1 variants to congenital disorder of glycosylation, type It (MIM #14921) and cleft palate and bifid uvula have been recorded as clinical presentations of this disorder. |
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Clefting v4.35 | PGM1 | Achchuthan Shanmugasundram reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24499211, 37010288; Phenotypes: Congenital disorder of glycosylation, type It, OMIM:14921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.35 | PGAP3 | Achchuthan Shanmugasundram Classified gene: PGAP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.35 | PGAP3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>10 unrelated cases) available for promoting this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.35 | PGAP3 | Achchuthan Shanmugasundram Gene: pgap3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.34 | PGAP3 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PGAP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.34 | PGAP3 |
Achchuthan Shanmugasundram gene: PGAP3 was added gene: PGAP3 was added to Clefting. Sources: Literature Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP3 were set to 28390064; 37010288 Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with impaired intellectual development syndrome 4, OMIM:615716 Review for gene: PGAP3 was set to GREEN Added comment: PMID:28390064 - 10 patients from eight families presented with developmental delay, severe intellectual disability, distinct facial dysmorphism and increased alkaline phosphatase. Nine patients from seven families were homozygous for the same variant (c.402dupC/ p.M135Hfs*28), while one patient had a different homozygous variant ( c.817_820delGACT/ p.D273Sfs*37). Of nine patients with p.M135Hfs*28 variant, eight patients from seven families (except one of the two patients from family 7) had cleft palate. But, the only patient with the different variant did not have cleft palate. DECIPHER database - Of seven patients reported with biallelic sequence variants, three patents with homozygous variants were reported with cleft palate and two patients with compound heterozygous variants were reported with cleft soft palate (PMID:37010288). OMIM associated patients with autosomal recessive variants in PGAP3 to hyperphosphatasia with impaired intellectual development syndrome 4 (MIM #615716) and cleft palate has been recorded as one of the clinical manifestations occurring in some patients. Sources: Literature |
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Clefting v4.33 | MED13L |
Achchuthan Shanmugasundram changed review comment from: PMID:25137640 - Cleft palate was present in the patient reported with intellectual disability and dysmorphic facial features. PMID:25712080 - Cleft palate was reported in a single case (patient 1) of MED13L haploinsufficiency. PMID:29159987 - One of the two patients reported with de novo variants had repaired posterior cleft palate and the other had only high palate. PMID:29511999 - One of 36 patients with monoallelic variants had posterior cleft palate. DECIPHER database - Of 72 patients reported with heterozygous sequence variants, cleft palate was reported in two patients, cleft soft palate in one and submucous cleft hard palate in one patient (PMID:37010288).; to: Although there are more than three cases reported with clefting, this feature is not consistently found in patients with monoallelic variants in MED13L gene. PMID:25137640 - Cleft palate was present in the patient reported with intellectual disability and dysmorphic facial features. PMID:25712080 - Cleft palate was reported in a single case (patient 1) of MED13L haploinsufficiency. PMID:29159987 - One of the two patients reported with de novo variants had repaired posterior cleft palate and the other had only high palate. PMID:29511999 - One of 36 patients with monoallelic variants had posterior cleft palate. DECIPHER database - Of 72 patients reported with heterozygous sequence variants, cleft palate was reported in two patients, cleft soft palate in one and submucous cleft hard palate in one patient (PMID:37010288). |
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Clefting v4.33 | MED13L | Achchuthan Shanmugasundram Publications for gene: MED13L were set to 25137640; 25712080; 29159987; 29511999; 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.33 | MED13L | Achchuthan Shanmugasundram Publications for gene: MED13L were set to 25137640; 25712080; 29159987; 29511999; 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.33 | MED13L | Achchuthan Shanmugasundram Publications for gene: MED13L were set to 25137640; 25712080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.32 | MED13L |
Achchuthan Shanmugasundram changed review comment from: PMID:25137640 - Cleft palate was present in the patient reported with intellectual disability and dysmorphic facial features. PMID:25712080 - Cleft palate was reported in a single case (patient 1) of MED13L haploinsufficiency. PMID:29159987 - One of the two patients reported with de novo variants had repaired posterior cleft palate and the other had only high palate. PMID:29511999 - One of 36 patients with monoallelic variants had posterior cleft palate. DECIPHER database - Of 72 patients reported with heterozygous sequence variants, cleft palate was reported in two patients, cleft soft palate in one and submucous cleft hard palate in one patient.; to: PMID:25137640 - Cleft palate was present in the patient reported with intellectual disability and dysmorphic facial features. PMID:25712080 - Cleft palate was reported in a single case (patient 1) of MED13L haploinsufficiency. PMID:29159987 - One of the two patients reported with de novo variants had repaired posterior cleft palate and the other had only high palate. PMID:29511999 - One of 36 patients with monoallelic variants had posterior cleft palate. DECIPHER database - Of 72 patients reported with heterozygous sequence variants, cleft palate was reported in two patients, cleft soft palate in one and submucous cleft hard palate in one patient (PMID:37010288). |
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Clefting v4.32 | MED13L | Achchuthan Shanmugasundram edited their review of gene: MED13L: Changed publications to: 25137640, 25712080, 29159987, 29511999, 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.32 | MED13L | Achchuthan Shanmugasundram reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: None; Publications: 25712080, 29159987, 29511999; Phenotypes: Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.32 | KMT2A | Achchuthan Shanmugasundram Classified gene: KMT2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.32 | KMT2A | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are more than three cases reported with clefting, it is only present in a very small subsection of patients with KMT2A monoallelic variants. Hence, this gene can only be rated amber with current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.32 | KMT2A | Achchuthan Shanmugasundram Gene: kmt2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.31 | KMT2A |
Achchuthan Shanmugasundram gene: KMT2A was added gene: KMT2A was added to Clefting. Sources: Literature Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2A were set to 25929198; 30305169; 31710778; 37010288 Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome, OMIM:605130 Review for gene: KMT2A was set to AMBER Added comment: PMID:25929198 - De novo KMT2A variant (p.Arg1083Ter) in monozygotic twins and they had submucosal cleft palate. PMID:30305169 - Two of 14 patients with KMT2A variants and presenting with Wiedemann–Steiner syndrome had cleft palate. PMID:31710778 - Both patients reported with KMT2A variants had only high arched palate and not cleft palate. DECIPHER database - None of the reported patients had cleft lip/ palate and only one of 115 had bifid uvula (PMID:37010288) Sources: Literature |
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Clefting v4.30 | KAT6B | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: KAT6B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.30 | KAT6B | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.30 | KAT6B | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.30 | KAT6B | Achchuthan Shanmugasundram Classified gene: KAT6B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.30 | KAT6B | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although clefting is a minor feature in patients reported with monoallelic KAT6B variants, it has been reported in more than 20 cases so far. Hence, this gene should be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.30 | KAT6B | Achchuthan Shanmugasundram Gene: kat6b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.29 | KAT6B | Achchuthan Shanmugasundram Classified gene: KAT6B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.29 | KAT6B | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although clefting is a minor feature in patients reported with monoallelic KAT6B variants, it has been reported in more than 20 cases so far. Hence, this gene should be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.29 | KAT6B | Achchuthan Shanmugasundram Gene: kat6b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.29 | KAT6B | Achchuthan Shanmugasundram Classified gene: KAT6B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.29 | KAT6B | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although clefting is a minor feature in patients reported with monoallelic KAT6B variants, it has been reported in more than 20 cases so far. Hence, this gene should be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.29 | KAT6B | Achchuthan Shanmugasundram Gene: kat6b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.28 | GLI2 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Although cleating is a minor feature in patients reported with monoallelic GLI2 variants, it has been reported in more than 15 cases. Hence, this gene should be promoted to green rating in the next GMS review.; to: Comment on list classification: Although clefting is a minor feature in patients reported with monoallelic GLI2 variants, it has been reported in more than 15 cases. Hence, this gene should be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.28 | KAT6B | Achchuthan Shanmugasundram Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome, OMIM:606170; SBBYSS syndrome, OMIM:603736 to Genitopatellar syndrome, OMIM:606170; SBBYSS syndrome, OMIM:603736 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.28 | KAT6B | Achchuthan Shanmugasundram Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome, OMIM:606170; SBBYSS syndrome, OMIM:603736 to Genitopatellar syndrome, OMIM:606170; SBBYSS syndrome, OMIM:603736 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.28 | KAT6B | Achchuthan Shanmugasundram Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome, OMIM:606170; SBBYSS syndrome, OMIM:603736 to Genitopatellar syndrome, OMIM:606170; SBBYSS syndrome, OMIM:603736 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.27 | KAT6B | Achchuthan Shanmugasundram Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome, OMIM:606170; SBBYSS syndrome, OMIM:603736 to Genitopatellar syndrome, OMIM:606170; SBBYSS syndrome, OMIM:603736 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.27 | KAT6B | Achchuthan Shanmugasundram Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome, 606170; GTPTS to Genitopatellar syndrome, OMIM:606170; SBBYSS syndrome, OMIM:603736 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.26 | KAT6B | Achchuthan Shanmugasundram Publications for gene: KAT6B were set to 20182757; 27031267; 32424177; 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.26 | KAT6B | Achchuthan Shanmugasundram Publications for gene: KAT6B were set to 20182757; 27031267 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.25 | KAT6B | Achchuthan Shanmugasundram reviewed gene: KAT6B: Rating: AMBER; Mode of pathogenicity: None; Publications: 32424177, 37010288; Phenotypes: Genitopatellar syndrome, OMIM:606170, SBBYSS syndrome, OMIM:603736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.25 | HNRNPK | Achchuthan Shanmugasundram Classified gene: HNRNPK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.25 | HNRNPK | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available to promote this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.25 | HNRNPK | Achchuthan Shanmugasundram Gene: hnrnpk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.24 | HNRNPK | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: HNRNPK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.24 | HNRNPK | Achchuthan Shanmugasundram Phenotypes for gene: HNRNPK were changed from Au-Kline syndrome, OMIM:616580 to Au-Kline syndrome, OMIM:616580 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.24 | HNRNPK | Achchuthan Shanmugasundram Phenotypes for gene: HNRNPK were changed from to Au-Kline syndrome, OMIM:616580 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.23 | HNRNPK |
Achchuthan Shanmugasundram changed review comment from: PMID:29904177 reported six new cases and reviewed additional cases from literature with Au-Kline syndrome and monoallelic variants in HNRNPK gene. Of 12 patients reported and reviewed in this publication, five had cleft palate and two others had bifid uvula. Three out of six patients reported with heterozygous sequence variants in HNRNPK gene had cleft palate as one of the phenotypes (PMID:37010288). OMIM reported that patients with Au-Kline syndrome (MIM #616580) caused by autosomal dominant variants in HNRNPK gene has cleft palate/ bifid uvula as clinical manifestations. Sources: Literature; to: PMID:29904177 reported six new cases and reviewed additional cases from literature with Au-Kline syndrome and monoallelic variants in HNRNPK gene. Of 12 patients reported and reviewed in this publication, five had cleft palate and two others had bifid uvula. Three out of six patients reported with heterozygous sequence variants in HNRNPK gene in the DECIPHER database had cleft palate as one of the phenotypes (PMID:37010288). OMIM reported that patients with Au-Kline syndrome (MIM #616580) caused by autosomal dominant variants in HNRNPK gene has cleft palate/ bifid uvula as clinical manifestations. Sources: Literature |
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Clefting v4.23 | HNRNPK | Achchuthan Shanmugasundram edited their review of gene: HNRNPK: Changed phenotypes to: Au-Kline syndrome, OMIM:616580 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.23 | HNRNPK |
Achchuthan Shanmugasundram gene: HNRNPK was added gene: HNRNPK was added to Clefting. Sources: Literature Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPK were set to 29904177; 37010288 Review for gene: HNRNPK was set to GREEN Added comment: PMID:29904177 reported six new cases and reviewed additional cases from literature with Au-Kline syndrome and monoallelic variants in HNRNPK gene. Of 12 patients reported and reviewed in this publication, five had cleft palate and two others had bifid uvula. Three out of six patients reported with heterozygous sequence variants in HNRNPK gene had cleft palate as one of the phenotypes (PMID:37010288). OMIM reported that patients with Au-Kline syndrome (MIM #616580) caused by autosomal dominant variants in HNRNPK gene has cleft palate/ bifid uvula as clinical manifestations. Sources: Literature |
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Clefting v4.22 | GLI2 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: GLI2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.22 | GLI2 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.22 | GLI2 | Achchuthan Shanmugasundram Classified gene: GLI2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.22 | GLI2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although cleating is a minor feature in patients reported with monoallelic GLI2 variants, it has been reported in more than 15 cases. Hence, this gene should be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.22 | GLI2 | Achchuthan Shanmugasundram Gene: gli2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.21 | GLI2 | Achchuthan Shanmugasundram Classified gene: GLI2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.21 | GLI2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although cleating is a minor feature in patients reported with monoallelic GLI2 variants, it has been reported in more than 15 cases. Hence, this gene should be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.21 | GLI2 | Achchuthan Shanmugasundram Gene: gli2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.20 | GLI2 |
Achchuthan Shanmugasundram gene: GLI2 was added gene: GLI2 was added to Clefting. Sources: Literature Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLI2 were set to 24744436; 37010288 Phenotypes for gene: GLI2 were set to Culler-Jones syndrome, OMIM:615849; Holoprosencephaly 9, OMIM:610829 Review for gene: GLI2 was set to GREEN Added comment: In ~400 screened individuals with HPE spectrum disorders, 112 individuals were identified with variants in GLI2 gene, of which 16 cases had cleft lip/ palate (PMID:24744436). Three out of 17 patients reported with heterozygous GLI2 sequence variants in the DECIPHER database presented with cleft lip/ palate as one of the phenotypes (PMID:37010288). OMIM reported cleft lip/ palate as one of the clinical presentations in a subset of patients with Culler-Jones syndrome (MIM #615849) and holoprosencephaly 9 (MIM #610829). These are diseases associated with autosomal dominant variants in GLI2 gene. Sources: Literature |
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Clefting v4.19 | FGFR3 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.19 | FGFR3 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.19 | FGFR3 | Achchuthan Shanmugasundram Classified gene: FGFR3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.19 | FGFR3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are more than three unrelated cases reported with cleft lip and/or palate, this is not consistently found in patients with monoallelic variants in FGFR3 gene. Hence, this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.19 | FGFR3 | Achchuthan Shanmugasundram Gene: fgfr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.19 | FGFR3 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.19 | FGFR3 | Achchuthan Shanmugasundram Classified gene: FGFR3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.19 | FGFR3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are more than three unrelated cases reported with cleft lip and/or palate, this is not consistently found in patients with monoallelic variants in FGFR3 gene. Hence, this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.19 | FGFR3 | Achchuthan Shanmugasundram Gene: fgfr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.18 | FGFR3 | Achchuthan Shanmugasundram Classified gene: FGFR3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.18 | FGFR3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are more than three unrelated cases reported with cleft lip and/or palate, this is not consistently found in patients with monoallelic variants in FGFR3 gene. Hence, this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.18 | FGFR3 | Achchuthan Shanmugasundram Gene: fgfr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.18 | FGFR3 | Achchuthan Shanmugasundram Classified gene: FGFR3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.18 | FGFR3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are more than three unrelated cases reported with cleft lip and/or palate, this is not consistently found in patients with monoallelic variants in FGFR3 gene. Hence, this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.18 | FGFR3 | Achchuthan Shanmugasundram Gene: fgfr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.17 | FGFR3 |
Achchuthan Shanmugasundram gene: FGFR3 was added gene: FGFR3 was added to Clefting. Sources: Literature Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR3 were set to 22565872; 29150894; 37010288 Phenotypes for gene: FGFR3 were set to Muenke syndrome, OMIM:602849; Hypochondroplasia, OMIM:146000 Review for gene: FGFR3 was set to AMBER Added comment: PMID:22565872 included 21 patients with variants in FGFR3 and presenting with Muenke syndrome in this study, of which 16 patients had structural anomaly of the palate. However, only one patient had cleft lip and palate. PMID:29150894 reported a father and two children with FGFR3 variant and presenting with hypochondroplasia, of which only the daughter had cleft palate. 2 out of 15 patients reported in DECIPHER database with monoallelic sequence variants had cleft palate. Sources: Literature |
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Clefting v4.16 | CNTNAP1 |
Achchuthan Shanmugasundram changed review comment from: PMID:28374019 - Cleft palate was reported in two children from a large Israeli consanguineous family of Palestinian ancestry with a homozygous stop-gain variant in CNTNAP1(c.2015G>A/ p.Trp672Ter). PMID:29511323/ 37010288 - There is one patient reported with compound heterozygous stop gain variants in CNTNAP1 (c.2687G>A/ p.Trp896Ter & c.1861C>T/ p.Arg621Ter) had cleft palate from DECIPHER database. PMID:29882456 - An eight year old American male patient with a homozygous CNTNAP1 variant (c.1163G>C/ p.Arg388Pro) had cleft palate. Sources: Literature; to: PMID:28374019 - Cleft palate was reported in two children from a large Israeli consanguineous family of Palestinian ancestry with a homozygous stop-gain variant in CNTNAP1(c.2015G>A/ p.Trp672Ter). PMID:29511323/ 37010288 - There is one patient reported with compound heterozygous stop gain variants in CNTNAP1 (c.2687G>A/ p.Trp896Ter & c.1861C>T/ p.Arg621Ter) had cleft palate from DECIPHER database. PMID:29882456 - An eight year old American male patient with a homozygous CNTNAP1 variant (c.1163G>C/ p.Arg388Pro) had cleft palate. Sources: Literature |
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Clefting v4.16 | CNTNAP1 |
Achchuthan Shanmugasundram changed review comment from: PMID:28374019 - Cleft palate was reported in two children from a large Israeli consanguineous family of Palestinian ancestry with a homozygous stop-gain variant in CNTNAP1(c.2015G>A/ p.Trp672Ter). PMID:29511323/ 37010288 - A patient with compound heterozygous stop gain variants in CNTNAP1 gene (c.2687G>A/ p.Trp896Ter & c.1861C>T/ p.Arg621Ter) had cleft palate from DECIPHER database. PMID:29882456 - An eight year old American male patient with a homozygous CNTNAP1 variant (c.1163G>C/ p.Arg388Pro) had cleft palate. Sources: Literature; to: PMID:28374019 - Cleft palate was reported in two children from a large Israeli consanguineous family of Palestinian ancestry with a homozygous stop-gain variant in CNTNAP1(c.2015G>A/ p.Trp672Ter). PMID:29511323/ 37010288 - There is one patient reported with compound heterozygous stop gain variants in CNTNAP1 (c.2687G>A/ p.Trp896Ter & c.1861C>T/ p.Arg621Ter) had cleft palate from DECIPHER database. PMID:29882456 - An eight year old American male patient with a homozygous CNTNAP1 variant (c.1163G>C/ p.Arg388Pro) had cleft palate. Sources: Literature |
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Clefting v4.16 | CNTNAP1 |
Achchuthan Shanmugasundram changed review comment from: PMID:28374019 - Cleft palate was reported in two children from a large Israeli consanguineous family of Palestinian ancestry with a homozygous stop-gain variant in CNTNAP1(c.2015G>A/ p.Trp672Ter). PMID:29511323/ 37010288 - Of seven patients reported with biallelic variants in CNTNAP1 gene, single patient with compound heterozygous stop gain variants (c.2687G>A/ p.Trp896Ter & c.1861C>T/ p.Arg621Ter) had cleft palate from DECIPHER database. PMID:29882456 - An eight year old American male patient with a homozygous CNTNAP1 variant (c.1163G>C/ p.Arg388Pro) had cleft palate. Sources: Literature; to: PMID:28374019 - Cleft palate was reported in two children from a large Israeli consanguineous family of Palestinian ancestry with a homozygous stop-gain variant in CNTNAP1(c.2015G>A/ p.Trp672Ter). PMID:29511323/ 37010288 - A patient with compound heterozygous stop gain variants in CNTNAP1 gene (c.2687G>A/ p.Trp896Ter & c.1861C>T/ p.Arg621Ter) had cleft palate from DECIPHER database. PMID:29882456 - An eight year old American male patient with a homozygous CNTNAP1 variant (c.1163G>C/ p.Arg388Pro) had cleft palate. Sources: Literature |
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Clefting v4.16 | CNTNAP1 | Achchuthan Shanmugasundram edited their review of gene: CNTNAP1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.16 | CNTNAP1 |
Achchuthan Shanmugasundram changed review comment from: PMID:28374019 - Cleft palate was reported in two children from a large Israeli consanguineous family of Palestinian ancestry with a homozygous stop-gain variant in CNTNAP1(c.2015G>A/ p.Trp672Ter). PMID:29511323/ 37010288 - There is one patient reported with compound heterozygous stop gain variants in CNTNAP1 (c.2687G>A/ p.Trp896Ter & c.1861C>T/ p.Arg621Ter) had cleft palate from DECIPHER database. PMID:29882456 - An eight year old American male patient with a homozygous CNTNAP1 variant (c.1163G>C/ p.Arg388Pro) had cleft palate. Sources: Literature; to: PMID:28374019 - Cleft palate was reported in two children from a large Israeli consanguineous family of Palestinian ancestry with a homozygous stop-gain variant in CNTNAP1(c.2015G>A/ p.Trp672Ter). PMID:29511323/ 37010288 - Of seven patients reported with biallelic variants in CNTNAP1 gene, single patient with compound heterozygous stop gain variants (c.2687G>A/ p.Trp896Ter & c.1861C>T/ p.Arg621Ter) had cleft palate from DECIPHER database. PMID:29882456 - An eight year old American male patient with a homozygous CNTNAP1 variant (c.1163G>C/ p.Arg388Pro) had cleft palate. Sources: Literature |
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Clefting v4.16 | CNTNAP1 | Achchuthan Shanmugasundram edited their review of gene: CNTNAP1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.16 | ARID1B | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Although there are three unrelated cases reported, clefting is not consistently present in patients with monoallelic variants in this gene. Hence, this gene should be rated amber.; to: Comment on list classification: Although there are more than three unrelated cases reported, clefting is not consistently present in patients with monoallelic variants in this gene. Hence, this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.16 | ARID1B |
Achchuthan Shanmugasundram changed review comment from: PMID:30349098 - On this web-based survey based on previously reported features of patients with variants in ARID1B gene (143 patients in total), which also included submissions to DECIPHER database, two patients were identified with cleft palate, one with cleft uvula, two with bifid uvula and three with sub mucous cleft. Although variants identified in these patients are reported in this publication, there is no association of individual patients to phenotypes available. One patient with ARID1B variant (c.3183_3184insT/ p.Tyr1062LeufsTer10) was reported with submucous cleft soft palate and two patients with ARID1B variants (c.4155_4156insA/ p.Asn1386LysfsTer18 & c.2620+5G>A) were reported with bifid uvula in DECIPHER database. Sources: Literature; to: PMID:30349098 - On this web-based survey based on previously reported features of patients with variants in ARID1B gene (143 patients in total), which also included submissions to DECIPHER database, two patients were identified with cleft palate, one with cleft uvula, two with bifid uvula and three with sub mucous cleft. Although variants identified in these patients are reported in this publication, there is no association of individual patients to phenotypes available. Of >100 patients with ARID1B variants in the DECIPHER database, only one patient (c.3183_3184insT/ p.Tyr1062LeufsTer10) was reported with submucous cleft soft palate and two patients (c.4155_4156insA/ p.Asn1386LysfsTer18 & c.2620+5G>A) were reported with bifid uvula. Sources: Literature |
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Clefting v4.16 | ARID1B | Achchuthan Shanmugasundram Classified gene: ARID1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.16 | ARID1B | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are three unrelated cases reported, clefting is not consistently present in patients with monoallelic variants in this gene. Hence, this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.16 | ARID1B | Achchuthan Shanmugasundram Gene: arid1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.15 | ARID1B | Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: ARID1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.15 | ARID1B | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.15 | ARID1B | Achchuthan Shanmugasundram edited their review of gene: ARID1B: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.15 | CHD4 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.15 | CHD4 | Achchuthan Shanmugasundram Classified gene: CHD4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.15 | CHD4 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are four unrelated cases presenting with either cleft palate and/or bifid uvula, this phenotype is not consistently found in patients with monoallelic CHD4 variants. Hence, this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.15 | CHD4 | Achchuthan Shanmugasundram Gene: chd4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.14 | CHD4 | Achchuthan Shanmugasundram Classified gene: CHD4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.14 | CHD4 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are four unrelated cases presenting with either cleft palate and/or bifid uvula, this phenotype is not consistently found in patients with monoallelic CHD4 variants. Hence, this gene should be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.14 | CHD4 | Achchuthan Shanmugasundram Gene: chd4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.13 | CHD4 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.13 | CHD4 | Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: CHD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.13 | CHD4 | Achchuthan Shanmugasundram edited their review of gene: CHD4: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.13 | CHD4 |
Achchuthan Shanmugasundram changed review comment from: PMID:31388190 reported a patient with heterozygous variant (p.Gln715Ter) in CHD4 that had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula. In addition, DDD study reported two patients with likely pathogenic heterozygous variants who had cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288). Sources: Literature; to: PMID:31388190 reported 32 patients with heterozygous variants in CHD4 gene, of which one patient (p.Gln715Ter) had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula. In addition, 2 out of 10 patients with pathogenic/ likely pathogenic heterozygous variants from the DDD study were reported with cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288). Sources: Literature |
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Clefting v4.13 | CHD4 |
Achchuthan Shanmugasundram changed review comment from: PMID:3138819 reported a patient with heterozygous variant (p.Gln715Ter) in CHD4 that had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula. In addition, DDD study reported two patients with likely pathogenic heterozygous variants who had cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288). Sources: Literature; to: PMID:31388190 reported a patient with heterozygous variant (p.Gln715Ter) in CHD4 that had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula. In addition, DDD study reported two patients with likely pathogenic heterozygous variants who had cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288). Sources: Literature |
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Clefting v4.13 | B4GALT7 | Achchuthan Shanmugasundram Publications for gene: B4GALT7 were set to 24755949 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.12 | B4GALT7 | Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: B4GALT7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.12 | B4GALT7 |
Achchuthan Shanmugasundram changed review comment from: PMID:24755949 - One of 22 patients identified with homozygous p.Arg270Cys variant in B4GALT7 gene had a cleft palate. PMID:26940150 - One of two patients reported in this publication from DDD study with compound heterozygous variants (p.His93Profds*73 & p.Cys2145Tyr) had cleft palate. PMID:31278392 - One patient and affected third pregnancy with compound heterozygous variants (p.Gln133Arg & p.Arg270Cys) and cleft palate was reported in this family.; to: Cleft palate is not a consistent feature that is reported in patients with biallelic variants in B4GALT7 gene. However, there are three unrelated cases reported with cleft palate. PMID:24755949 - One of 22 patients identified with homozygous p.Arg270Cys variant in B4GALT7 gene had a cleft palate. PMID:26940150 - One of two patients reported in this publication from DDD study with compound heterozygous variants (p.His93Profds*73 & p.Cys2145Tyr) had cleft palate. PMID:31278392 - One patient and affected third pregnancy with compound heterozygous variants (p.Gln133Arg & p.Arg270Cys) and cleft palate was reported in this family. |
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Clefting v4.12 | B4GALT7 | Achchuthan Shanmugasundram edited their review of gene: B4GALT7: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.12 | B4GALT7 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.12 | B4GALT7 |
Achchuthan Shanmugasundram changed review comment from: PMID:24755949 - One of 22 patients identified with with homozygous p.Arg270Cys variant in B4GALT7 gene had a cleft palate. PMID:26940150 - One of two patients reported in this publication from DDD study with compound heterozygous variants (p.His93Profds*73 & p.Cys2145Tyr) had cleft palate. PMID:31278392 - One patient and affected third pregnancy with compound heterozygous variants (p.Gln133Arg & p.Arg270Cys) and cleft palate was reported in this family.; to: PMID:24755949 - One of 22 patients identified with homozygous p.Arg270Cys variant in B4GALT7 gene had a cleft palate. PMID:26940150 - One of two patients reported in this publication from DDD study with compound heterozygous variants (p.His93Profds*73 & p.Cys2145Tyr) had cleft palate. PMID:31278392 - One patient and affected third pregnancy with compound heterozygous variants (p.Gln133Arg & p.Arg270Cys) and cleft palate was reported in this family. |
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Clefting v4.12 | DDX3X |
Achchuthan Shanmugasundram changed review comment from: PMID:26235985 - Patients with DDX3X variants reported from multiple studies including the Deciphering Developmental Disorders (DDD) study, of which three females had cleft lip and/ or palate (one from the DDD study) and one male had bifid uvula. PMID:27159028 - A female patient with DDX3X variant (c.856G>A/ p.Gly286Ser) and reported with severe ID and ataxic gait also had cleft uvula.; to: PMID:26235985 - 38 female and three male patients with DDX3X variants were reported from multiple studies including the Deciphering Developmental Disorders (DDD) study, of which three females had cleft lip and/ or palate (one from the DDD study) and one male had bifid uvula. PMID:27159028 - Two female patients were reported with DDX3X variants, of which one of them reported with severe ID and ataxic gait (c.856G>A/ p.Gly286Ser) also had cleft uvula. |
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Clefting v4.12 | DDX3X | Achchuthan Shanmugasundram edited their review of gene: DDX3X: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.12 | DDX3X | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.12 | DDX3X | Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: DDX3X. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.12 | DDX3X | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.12 | DDX3X | Achchuthan Shanmugasundram Classified gene: DDX3X as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.12 | DDX3X | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated cases associating this gene with cleft lip and/ or palate. Hence, this gene can be promoted to green rating at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.12 | DDX3X | Achchuthan Shanmugasundram Gene: ddx3x has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.12 | DDX3X | Achchuthan Shanmugasundram Classified gene: DDX3X as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.12 | DDX3X | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated cases associating this gene with cleft lip and/ or palate. Hence, this gene can be promoted to green rating at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.12 | DDX3X | Achchuthan Shanmugasundram Gene: ddx3x has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.11 | DDX3X | Achchuthan Shanmugasundram Publications for gene: DDX3X were set to 26235985; 27159028; 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.11 | DDX3X | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DDX3X. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.11 | DDX3X | Achchuthan Shanmugasundram Publications for gene: DDX3X were set to 26235985; 27159028; 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.11 | DDX3X | Achchuthan Shanmugasundram Publications for gene: DDX3X were set to 26235985; 27159028; 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.11 | DDX3X | Achchuthan Shanmugasundram Publications for gene: DDX3X were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.10 | DDX3X | Achchuthan Shanmugasundram reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: None; Publications: 26235985, 27159028, 37010288; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.10 | CNTNAP1 | Achchuthan Shanmugasundram Classified gene: CNTNAP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.10 | CNTNAP1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated cases) for the association of biallelic variants from this gene with cleft palate. Hence, it can be promoted to green rating at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.10 | CNTNAP1 | Achchuthan Shanmugasundram Gene: cntnap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.9 | CNTNAP1 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: CNTNAP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.9 | CNTNAP1 |
Achchuthan Shanmugasundram gene: CNTNAP1 was added gene: CNTNAP1 was added to Clefting. Sources: Literature Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTNAP1 were set to 28374019; 29511323; 29882456; 37010288 Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, OMIM:618186 Review for gene: CNTNAP1 was set to GREEN Added comment: PMID:28374019 - Cleft palate was reported in two children from a large Israeli consanguineous family of Palestinian ancestry with a homozygous stop-gain variant in CNTNAP1(c.2015G>A/ p.Trp672Ter). PMID:29511323/ 37010288 - There is one patient reported with compound heterozygous stop gain variants in CNTNAP1 (c.2687G>A/ p.Trp896Ter & c.1861C>T/ p.Arg621Ter) had cleft palate from DECIPHER database. PMID:29882456 - An eight year old American male patient with a homozygous CNTNAP1 variant (c.1163G>C/ p.Arg388Pro) had cleft palate. Sources: Literature |
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Clefting v4.8 | ARID1B | Achchuthan Shanmugasundram Classified gene: ARID1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.8 | ARID1B | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least three unrelated cases) for this gene to be promoted to green rating at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.8 | ARID1B | Achchuthan Shanmugasundram Gene: arid1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.7 | ARID1B | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ARID1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.7 | ARID1B | Achchuthan Shanmugasundram edited their review of gene: ARID1B: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.7 | ARID1B |
Achchuthan Shanmugasundram changed review comment from: PMID:30349098 - On this web-based survey based on previously reported features of patients with variants in ARID1B gene (143 patients in total), which also included submissions to DECIPHER database, two patients were identified with cleft palate, one with cleft uvula, two with bifid uvula and three with sub mucous cleft. Although variants identified in these patients are reported in this publication, there is no association of individual patients to phenotypes available. One patient was reported with submucous cleft soft palate and two patients were reported with bifid uvula in DECIPHER database. Sources: Literature; to: PMID:30349098 - On this web-based survey based on previously reported features of patients with variants in ARID1B gene (143 patients in total), which also included submissions to DECIPHER database, two patients were identified with cleft palate, one with cleft uvula, two with bifid uvula and three with sub mucous cleft. Although variants identified in these patients are reported in this publication, there is no association of individual patients to phenotypes available. One patient with ARID1B variant (c.3183_3184insT/ p.Tyr1062LeufsTer10) was reported with submucous cleft soft palate and two patients with ARID1B variants (c.4155_4156insA/ p.Asn1386LysfsTer18 & c.2620+5G>A) were reported with bifid uvula in DECIPHER database. Sources: Literature |
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Clefting v4.7 | ARID1B |
Achchuthan Shanmugasundram changed review comment from: PMID:30349098 - On this web-based survey based on previously reported features of patients with variants in ARID1B gene (143 patients in total), which also included submissions to DECIPHER database, two patients were identified with cleft palate, one with cleft uvula, two with bifid uvula and three with sub mucous cleft. Although variants identified in these patients are reported in this publication, there is no association of individual patients to phenotypes available. There is only one patient reported with pathogenic variant in ARID1B gene and submucous cleft soft palate in DECIPHER database. Sources: Literature; to: PMID:30349098 - On this web-based survey based on previously reported features of patients with variants in ARID1B gene (143 patients in total), which also included submissions to DECIPHER database, two patients were identified with cleft palate, one with cleft uvula, two with bifid uvula and three with sub mucous cleft. Although variants identified in these patients are reported in this publication, there is no association of individual patients to phenotypes available. One patient was reported with submucous cleft soft palate and two patients were reported with bifid uvula in DECIPHER database. Sources: Literature |
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Clefting v4.7 | ARID1B |
Achchuthan Shanmugasundram gene: ARID1B was added gene: ARID1B was added to Clefting. Sources: Literature Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID1B were set to 30349098; 37010288 Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome 1, OMIM:135900 Review for gene: ARID1B was set to AMBER Added comment: PMID:30349098 - On this web-based survey based on previously reported features of patients with variants in ARID1B gene (143 patients in total), which also included submissions to DECIPHER database, two patients were identified with cleft palate, one with cleft uvula, two with bifid uvula and three with sub mucous cleft. Although variants identified in these patients are reported in this publication, there is no association of individual patients to phenotypes available. There is only one patient reported with pathogenic variant in ARID1B gene and submucous cleft soft palate in DECIPHER database. Sources: Literature |
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Clefting v4.6 | CHD4 |
Achchuthan Shanmugasundram changed review comment from: PMID:3138819 reported a patient with heterozygous variant (p.Gln715Ter) in CHD4 that had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula. In addition, DDD study reported two patients with likely pathogenic heterozygous variants who had cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288) Sources: Literature; to: PMID:3138819 reported a patient with heterozygous variant (p.Gln715Ter) in CHD4 that had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula. In addition, DDD study reported two patients with likely pathogenic heterozygous variants who had cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288). Sources: Literature |
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Clefting v4.6 | CHD4 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: CHD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.6 | CHD4 | Achchuthan Shanmugasundram Classified gene: CHD4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.6 | CHD4 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases presenting with either cleft palate and/or bifid uvula. Hence, this gene can be promoted to green at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.6 | CHD4 | Achchuthan Shanmugasundram Gene: chd4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.5 | CHD4 |
Achchuthan Shanmugasundram gene: CHD4 was added gene: CHD4 was added to Clefting. Sources: Literature Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD4 were set to 31388190; 37010288 Phenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome, OMIM:617159 Review for gene: CHD4 was set to GREEN Added comment: PMID:3138819 reported a patient with heterozygous variant (p.Gln715Ter) in CHD4 that had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula. In addition, DDD study reported two patients with likely pathogenic heterozygous variants who had cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288) Sources: Literature |
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Clefting v4.4 | B4GALT7 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.4 | B4GALT7 | Achchuthan Shanmugasundram Classified gene: B4GALT7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.4 | B4GALT7 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated cases) for this gene to be promoted to Green rating at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.4 | B4GALT7 | Achchuthan Shanmugasundram Gene: b4galt7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.3 | B4GALT7 | Achchuthan Shanmugasundram Classified gene: B4GALT7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.3 | B4GALT7 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated cases) for this gene to be promoted to Green rating at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.3 | B4GALT7 | Achchuthan Shanmugasundram Gene: b4galt7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.2 | B4GALT7 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: B4GALT7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.2 | B4GALT7 | Achchuthan Shanmugasundram reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24755949, 26940150, 31278392; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1, OMIM:130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.2 | UQCC2 | Arina Puzriakova Phenotypes for gene: UQCC2 were changed from MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7 to Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.1 | Arina Puzriakova Panel version 4.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.0 | Arina Puzriakova promoted panel to version 4.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.9 | TBX1 | Arina Puzriakova Classified gene: TBX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.9 | TBX1 | Arina Puzriakova Added comment: Comment on list classification: Following consultation with Helen Brittain (Genomics England Clinical Team) it was agreed that there is sufficient evidence to promote this gene to Green on this panel (at least three cases of palatal involvement) at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.9 | TBX1 | Arina Puzriakova Gene: tbx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.8 | TBX1 | Arina Puzriakova Phenotypes for gene: TBX1 were changed from CONOTRUNCAL HEART MALFORMATIONS; CTHM; Cleft palate to DiGeorge syndrome, OMIM:188400; Conotruncal anomaly face syndrome, OMIM:217095; Velocardiofacial syndrome, OMIM:192430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.7 | TBX1 | Arina Puzriakova Publications for gene: TBX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.6 | TBX1 | Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: TBX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.6 | TBX1 | Arina Puzriakova reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14585638, 17273972, 30137364; Phenotypes: DiGeorge syndrome, OMIM:188400, Conotruncal anomaly face syndrome, OMIM:217095, Velocardiofacial syndrome, OMIM:192430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.6 | MED12 | Eleanor Williams commented on gene: MED12: The mode of inheritance has been left as 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' with agreement from the Genomics Unit at NHSE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.6 | ISCA-46303-Loss | Arina Puzriakova reviewed Region: ISCA-46303-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.6 | ISCA-37423-Gain | Arina Puzriakova edited their review of Region: ISCA-37423-Gain: Added comment: Following Genomics England clinical review and NHS Genomic Medicine Service approval, the genomic coordinates and triplosensitivity score (from 3 to 2) of this region were updated based on ClinGen Region Curation Results (version on 05 Aug 2022). Regardless of the change in triplosensitivity score, it was deemed appropriate for this regions to remain green as evidence to support pathogenicity remains.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.6 | ISCA-46303-Loss |
Arina Puzriakova Region: ISCA-46303-Loss was added Region: ISCA-46303-Loss was added to Clefting. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-46303-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-46303-Loss were set to 24934569; 26663529; 19234473 |
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Clefting v3.6 | ISCA-37423-Gain |
Arina Puzriakova GRCh38 position for ISCA-37423-Gain was changed from 8261773-11908210 to 8242542-11908820. Triplosensitivity Score for ISCA-37423-Gain was changed from 3 to 2. |
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Clefting v3.5 | MED12 | Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: MED12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.5 | SF3B2 | Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: SF3B2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.5 | PLCB4 | Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: PLCB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.5 | GDF11 | Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: GDF11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.5 | SEPT9 | Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: SEPT9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.5 | MED12 |
Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: MED12. Tag Q3_21_expert_review was removed from gene: MED12. |
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Clefting v3.5 | SF3B2 | Achchuthan Shanmugasundram reviewed gene: SF3B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.5 | PLCB4 | Achchuthan Shanmugasundram reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.5 | GDF11 | Achchuthan Shanmugasundram reviewed gene: GDF11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.5 | SEPT9 | Achchuthan Shanmugasundram reviewed gene: SEPT9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.5 | MED12 | Achchuthan Shanmugasundram reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.4 | SF3B2 |
Achchuthan Shanmugasundram Source NHS GMS was added to SF3B2. Source Expert Review Green was added to SF3B2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Clefting v3.4 | SEPT9 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to SEPT9. Source NHS GMS was added to SEPT9. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Clefting v3.4 | PLCB4 |
Achchuthan Shanmugasundram Source NHS GMS was added to PLCB4. Source Expert Review Green was added to PLCB4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Clefting v3.4 | MED12 |
Achchuthan Shanmugasundram Source NHS GMS was added to MED12. Source Expert Review Green was added to MED12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Clefting v3.4 | GDF11 |
Achchuthan Shanmugasundram Source NHS GMS was added to GDF11. Source Expert Review Green was added to GDF11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Clefting v3.3 | DDX3X | Arina Puzriakova Phenotypes for gene: DDX3X were changed from MENTAL RETARDATION, X-LINKED 102; MRX102 to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.2 | MYCN |
Achchuthan Shanmugasundram gene: MYCN was added gene: MYCN was added to Clefting. Sources: Literature Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYCN were set to 34590686 Phenotypes for gene: MYCN were set to Cleft lip with or without cleft palate, MONDO:0016034 Review for gene: MYCN was set to RED Added comment: Comment on classification of this gene: This gene has been added with a RED rating to this panel, as identified from one case and supported by functional studies with mouse model. Out of the 104 multiplex families with Mendelian non-syndromic cleft lip with or without cleft palate (NSCL/P), a novel pathogenic variant (c.703G>C/ p.A235P) has been identified in MYCN gene from one family. This variant was found in the proband and his affected mother and absent in the unaffected sister, showing co-segregation with phenotype in this family. In addition, experimental evidence from conditional knockout mouse model showed that these mice displayed cleft palate, microglossia and micrognathia, resembling the Pierre Robin sequence (PRS) in humans. This gene has not yet been associated with clefting either in OMIM or in Gene2Phenotype. Sources: Literature |
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Clefting v3.1 | Arina Puzriakova Panel version 3.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v3.0 | Arina Puzriakova promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.73 | RAD21 | Arina Puzriakova Classified gene: RAD21 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.73 | RAD21 | Arina Puzriakova Gene: rad21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.72 | RAD21 |
Arina Puzriakova gene: RAD21 was added gene: RAD21 was added to Clefting. Sources: Literature Q4_22_promote_green tags were added to gene: RAD21. Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAD21 were set to 22633399; 27882533; 31334757; 32193685 Phenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4, OMIM:614701 Review for gene: RAD21 was set to GREEN Added comment: At least 33 unrelated families published with RAD21 alterations. Of these, 6 cases presented with cleft palate or submucous cleft palate. Although only displayed by a subset of patients, clefting is a congenital anomaly that may aid earlier diagnosis if other features such as ID have not yet become apparent. Therefore there would be value in including RAD21 on this panel with a Green rating. Sources: Literature |
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Clefting v2.71 | ROR2 | Arina Puzriakova Phenotypes for gene: ROR2 were changed from ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS to Robinow syndrome, autosomal recessive, OMIM:268310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.70 | ISCA-37423-Gain | Arina Puzriakova edited their review of Region: ISCA-37423-Gain: Added comment: Only two cases with clefting have been reported to date. Following consultation with Clinical team, decided to maintain Green rating as CNVs with variable penetrance are reported in clinical practice and can be relevant diagnostically; however, adding watchlist tag to monitor for clear evidence of particularly reduced penetrance at which stage the rating may be reviewed.; Changed phenotypes to: 26097203 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.70 | ISCA-37423-Gain | Arina Puzriakova Tag watchlist tag was added to Region: ISCA-37423-Gain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.70 | MED13L | Arina Puzriakova Phenotypes for gene: MED13L were changed from Mental retardation and distinctive facial features with or without cardiac defects, 616789; MRFACD; Cleft palate to Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789; MRFACD; Cleft palate | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.69 | POLR1D | Arina Puzriakova commented on gene: POLR1D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.69 | COL2A1 | Arina Puzriakova commented on gene: COL2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.69 | COL11A2 | Arina Puzriakova commented on gene: COL11A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.69 | COL11A1 | Arina Puzriakova commented on gene: COL11A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.68 | PLCB4 | Eleanor Williams Tag Q2_22_rating tag was added to gene: PLCB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.68 | PLCB4 |
Eleanor Williams edited their review of gene: PLCB4: Added comment: PMID: 28328130 - Romanelli-Tavares et al 2017 - report 2 patients (1 sporadic, 1 familial) with previous published phenotypic descriptions of Auriculocondylar syndrome in which heterozygous missense variants were found in PLCB4 after sequencing PLCB4, GNAI3,and EDN1. Cleft palate was noted in 2/7 members of the familial case. This is a 3rd case in which cleft palate is reported in association with PLCB4 variants and therefore there is sufficient evidence to promote this gene to green following GMS review.; Changed rating: GREEN; Changed publications to: 28328130 |
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Clefting v2.68 | PLCB4 | Eleanor Williams Publications for gene: PLCB4 were set to 16114046; 32201334; 27007857; 23913798; 2560091; 23315542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.67 | IMPAD1 | Arina Puzriakova commented on gene: IMPAD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.67 | IMPAD1 | Arina Puzriakova Tag new-gene-name tag was added to gene: IMPAD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.67 | HYAL2 | Arina Puzriakova Tag gene-checked tag was added to gene: HYAL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.67 | ARHGAP29 | Sarah Leigh Tag gene-checked tag was added to gene: ARHGAP29. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.67 | MSX1 | Arina Puzriakova Phenotypes for gene: MSX1 were changed from Orofacial cleft 5, 608874; Tooth agenesis, selective, 1, with or without orofacial cleft, 106600; CLP with dental anomalies; Cleft lip to Orofacial cleft 5, OMIM:608874; Tooth agenesis, selective, 1, with or without orofacial cleft, OMIM:106600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.66 | ISCA-37423-Gain | Arina Puzriakova commented on Region: ISCA-37423-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.66 | ISCA-37467-Gain | Arina Puzriakova commented on Region: ISCA-37467-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.66 | ISCA-37446-Loss | Eleanor Williams commented on Region: ISCA-37446-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.66 | ISCA-37433-Loss | Arina Puzriakova commented on Region: ISCA-37433-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.66 | ISCA-37393-Gain | Ivone Leong commented on Region: ISCA-37393-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.66 | ISCA-37423-Gain | Arina Puzriakova Required Overlap Percentage for ISCA-37423-Gain was changed from 80 to 60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.66 | ISCA-37467-Gain | Arina Puzriakova Required Overlap Percentage for ISCA-37467-Gain was changed from 80 to 60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.66 | ISCA-37393-Gain | Arina Puzriakova Required Overlap Percentage for ISCA-37393-Gain was changed from 80 to 60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.66 | ISCA-37446-Loss |
Arina Puzriakova GRCh38 position for ISCA-37446-Loss was changed from 18924718-21111384 to 18924718-21111383. Required Overlap Percentage for ISCA-37446-Loss was changed from 80 to 60. |
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Clefting v2.66 | ISCA-37433-Loss |
Arina Puzriakova GRCh38 position for ISCA-37433-Loss was changed from 18924718-20299686 to 18924718-20299685. Required Overlap Percentage for ISCA-37433-Loss was changed from 80 to 60. |
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Clefting v2.65 | POLR1D | Eleanor Williams commented on gene: POLR1D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.65 | COL2A1 | Eleanor Williams commented on gene: COL2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.65 | COL11A2 | Eleanor Williams commented on gene: COL11A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.65 | COL11A1 | Eleanor Williams commented on gene: COL11A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.64 | POLR1D | Eleanor Williams Mode of inheritance for gene POLR1D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.64 | COL2A1 | Eleanor Williams Mode of inheritance for gene COL2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.64 | COL11A2 | Eleanor Williams Mode of inheritance for gene COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.64 | COL11A1 | Eleanor Williams Mode of inheritance for gene COL11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.63 | POLR1B | Eleanor Williams Tag for-review was removed from gene: POLR1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.63 | MED25 | Eleanor Williams Tag for-review was removed from gene: MED25. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.63 | HYAL2 | Eleanor Williams Tag for-review was removed from gene: HYAL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.63 | MAPRE2 | Eleanor Williams commented on gene: MAPRE2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.63 | POLR1B | Eleanor Williams commented on gene: POLR1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.63 | MED25 | Eleanor Williams commented on gene: MED25: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.63 | HYAL2 | Eleanor Williams commented on gene: HYAL2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.62 | MAPRE2 | Eleanor Williams Source Expert list was added to MAPRE2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.62 | POLR1B |
Eleanor Williams Source Expert Review Green was added to POLR1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Clefting v2.62 | MED25 |
Eleanor Williams Source Expert Review Green was added to MED25. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Clefting v2.62 | HYAL2 |
Eleanor Williams Source Expert Review Green was added to HYAL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Clefting v2.61 | POLR1D | Arina Puzriakova Phenotypes for gene: POLR1D were changed from TREACHER COLLINS SYNDROME 2; TCS2 to Treacher Collins syndrome 2, OMIM:613717 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.60 | COL9A2 | Arina Puzriakova Phenotypes for gene: COL9A2 were changed from ?Stickler syndrome type V, 614284; Orofacial Clefting with skeletal features; Stickler syndrome; Cleft palate to Stickler syndrome, type V, OMIM:614284 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.59 | COL9A1 | Arina Puzriakova Phenotypes for gene: COL9A1 were changed from Stickler syndrome, type IV (ophthalmological: myopia, retinal detachment and cataracts, orofacial: micrognathia, midface hypoplasia and cleft palate, auditory:sensorineural hearing loss and articular: epiphyseal dysplasia) symptoms; Autosomal recessive Stickler syndrome; Orofacial Clefting with skeletal features; Cleft palate to Stickler syndrome, type IV, OMIM:614134 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.58 | COL11A1 | Arina Puzriakova Phenotypes for gene: COL11A1 were changed from Orofacial Clefting with skeletal features; Stickler Syndrome; Cleft palate to Marshall Syndrome, OMIM:154780; Stickler syndrome, type II, OMIM:604841 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.57 | SCUBE3 | Sarah Leigh Phenotypes for gene: SCUBE3 were changed from Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.56 | SCUBE3 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.56 | SCUBE3 | Sarah Leigh edited their review of gene: SCUBE3: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. PMID 33308444 reports eight SCUBE variants in nine unrelated families, including eighteen affected members. In vtro studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, resulting in dysregulation on bone morphogenetic protein (BMP) signaling and a Scube3−/− mouse showed shared phenotypic features with OMIM:619184. Clefting was evident in 3/14 cases examined.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.56 | SCUBE3 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. PMID 33308444 reports eight SCUBE variants in nine unrelated families, including eighteen affected members. In vtro studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, resulting in dysregulation on bone morphogenetic protein (BMP) signaling and a Scube3−/− mouse showed shared phenotypic features with OMIM:619184. Clefting was evident in 3/14 cases examined; to: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. PMID 33308444 reports eight SCUBE variants in nine unrelated families, including eighteen affected members. In vtro studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, resulting in dysregulation on bone morphogenetic protein (BMP) signaling and a Scube3−/− mouse showed shared phenotypic features with OMIM:619184. Clefting was evident in 3/14 cases examined. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.56 | SCUBE3 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.56 | SCUBE3 | Sarah Leigh Tag Q2_21_rating was removed from gene: SCUBE3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.56 | SCUBE3 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in 5 unrelated cases, together with supportive functional and mouse model studies (PMID 33308444).; to: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. PMID 33308444 reports eight SCUBE variants in nine unrelated families, including eighteen affected members. In vtro studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, resulting in dysregulation on bone morphogenetic protein (BMP) signaling and a Scube3−/− mouse showed shared phenotypic features with OMIM:619184. Clefting was evident in 3/14 cases examined | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.56 | SCUBE3 | Sarah Leigh Entity copied from Skeletal dysplasia v2.136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.56 | SCUBE3 |
Sarah Leigh gene: SCUBE3 was added gene: SCUBE3 was added to Clefting. Sources: Expert Review Amber,Other Q2_21_rating tags were added to gene: SCUBE3. Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCUBE3 were set to 33308444 Phenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 Penetrance for gene: SCUBE3 were set to unknown |
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Clefting v2.55 | BMP2 | Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the mode of inheritance as monoallelic. OMIM also reports the biallelic phenotype of {HFE hemochromatosis, modifier of} but this is not relevant to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.55 | BMP2 | Eleanor Williams Mode of inheritance for gene: BMP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.54 | GDF11 | Eleanor Williams Classified gene: GDF11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.54 | GDF11 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber but with a recommendation for green rating following GMS review. 2 cases plus mouse model data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.54 | GDF11 | Eleanor Williams Gene: gdf11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.53 | GDF11 | Eleanor Williams Phenotypes for gene: GDF11 were changed from Vertebral hypersegmentation and orofacial anomalies (VHO), OMIM #619122 to Vertebral hypersegmentation and orofacial anomalies (VHO), OMIM:619122 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.52 | GDF11 | Eleanor Williams Publications for gene: GDF11 were set to 31215115; 34113007 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.51 | GDF11 | Eleanor Williams Tag Q4_21_rating tag was added to gene: GDF11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.51 | GDF11 | Eleanor Williams reviewed gene: GDF11: Rating: ; Mode of pathogenicity: None; Publications: 3411300, 31215115, 10391213; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.51 | GDF11 |
Zornitza Stark gene: GDF11 was added gene: GDF11 was added to Clefting. Sources: Literature Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GDF11 were set to 31215115; 34113007 Phenotypes for gene: GDF11 were set to Vertebral hypersegmentation and orofacial anomalies (VHO), OMIM #619122 Review for gene: GDF11 was set to GREEN Added comment: PMID 34113007: Ravenscroft et al. (2021) report 6 probands who presented with craniofacial (5/6), vertebral (5/6), neurological (6/6), visual (4/6), cardiac (3/6), auditory (3/6), and connective tissue abnormalities (3/6). They found de novo and inherited variants in GDF11. gdf11 mutant zebrafish showed craniofacial abnormalities and body segmentation defects that matched some patient phenotypes. Expression of the patients’ variants in the fly showed that one nonsense variant in GDF11 is a severe loss-of-function (LOF) allele whereas the missense variants are partial LOF variants. PMID 31215115: In 5 affected members over 3 generations of a family segregating vertebral hypersegmentation and orofacial anomalies, Cox et al. (2019) identified heterozygosity for a missense mutation in the GDF11 gene (R298Q) that was not found in unaffected family members or in public variant databases. Functional analysis demonstrated that the R298Q substitution prevents cleavage to the active form of the protein, resulting in loss of function. Sources: Literature |
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Clefting v2.51 | SF3B2 | Eleanor Williams Classified gene: SF3B2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.51 | SF3B2 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber but with a green recommendation following GMS review. 4 families reported in which lateral oral clefting is part of the phenotype. Supportive Xenopus data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.51 | SF3B2 | Eleanor Williams Gene: sf3b2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.50 | SF3B2 | Eleanor Williams Tag Q4_21_rating tag was added to gene: SF3B2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.50 | SF3B2 | Eleanor Williams commented on gene: SF3B2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.50 | MED12 | Eleanor Williams Tag Q3_21_MOI tag was added to gene: MED12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.50 | MED12 | Eleanor Williams Tag Skewed X-inactivation tag was added to gene: MED12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.50 | MED12 | Eleanor Williams Added comment: Comment on mode of inheritance: X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.50 | MED12 | Eleanor Williams Mode of inheritance for gene: MED12 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.49 | MED12 | Eleanor Williams Tag Q3_21_expert_review tag was added to gene: MED12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.49 | GNB1 | Sarah Leigh Added comment: Comment on mode of pathogenicity: Gen2Phen entry for GNB1 (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2121) lists the mutation consequence summary as Activating | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.49 | GNB1 | Sarah Leigh Mode of pathogenicity for gene: GNB1 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.48 | GNB1 | Sarah Leigh Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42, 616973 to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.47 | GJA1 | Arina Puzriakova Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia,164200; ODDD to Oculodentodigital dysplasia, OMIM:164200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.46 | SF3B2 |
Zornitza Stark gene: SF3B2 was added gene: SF3B2 was added to Clefting. Sources: Literature Mode of inheritance for gene: SF3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SF3B2 were set to 34344887 Phenotypes for gene: SF3B2 were set to Craniofacial microsomia Review for gene: SF3B2 was set to GREEN gene: SF3B2 was marked as current diagnostic Added comment: Twenty individuals from seven families reported with de novo or transmitted haploinsufficient variants in SF3B2. Affected individuals had mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities. Targeted morpholino knockdown of SF3B2 in Xenopus resulted in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects, supporting a link between spliceosome mutations and impaired neural crest development in congenital craniofacial disease. The families were ascertained from a cohort and the authors suggest that haploinsufficient variants in SF3B2 are the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases. Sources: Literature |
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Clefting v2.46 | SF3B4 | Zornitza Stark Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.46 | SF3B4 | Zornitza Stark reviewed gene: SF3B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 34344887; Phenotypes: Craniofacial microsomia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.46 | SEPT9 | Eleanor Williams Classified gene: SEPT9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.46 | SEPT9 | Eleanor Williams Added comment: Comment on list classification: There is only 1 report of clefting in a patient with a variant in SEPT9 and a diagnosis of HNA. Other reports of clefting are in patients in which the molecular cause of the disease were not established. Therefore, the recommendation is to demote this gene from green to amber following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.46 | SEPT9 | Eleanor Williams Gene: sept9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.45 | SEPT9 | Eleanor Williams Publications for gene: SEPT9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.44 | SEPT9 | Eleanor Williams Tag Q3_21_rating tag was added to gene: SEPT9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.44 | SEPT9 | Eleanor Williams reviewed gene: SEPT9: Rating: AMBER; Mode of pathogenicity: None; Publications: 11739810, 18492087, 30019529, 31619932, 28503616, 20019224, 19939853, 19451530, 19139049, 16186812; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.44 | MED12 | Eleanor Williams Phenotypes for gene: MED12 were changed from Lujan-Fryns syndrome, 309520; Opitz-Kaveggia syndrome, 305450; OKS; submucous cleft palate to Hardikar syndrome, OMIM:612726; cholestasis-pigmentary retinopathy-cleft palate syndrome, MONDO:0012997 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.43 | MED12 | Eleanor Williams Publications for gene: MED12 were set to 12784307 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.42 | MED12 | Eleanor Williams Mode of inheritance for gene: MED12 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.41 | MED12 | Eleanor Williams Classified gene: MED12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.41 | MED12 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber with the recommendation of a green rating following GMS review. There are 7 reported cases with cleft lip/palate and a variant identified in MED12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.41 | MED12 | Eleanor Williams Gene: med12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.40 | MED12 | Eleanor Williams Tag Q3_21_rating tag was added to gene: MED12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.40 | MED12 | Eleanor Williams reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33244166; Phenotypes: Hardikar syndrome, OMIM:612726, cholestasis-pigmentary retinopathy-cleft palate syndrome, MONDO:0012997; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.40 | ESCO2 | Eleanor Williams Classified gene: ESCO2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.40 | ESCO2 | Eleanor Williams Added comment: Comment on list classification: Leaving rating as green. Sufficient cases reported with clefting a feature in Roberts-SC phocomelia syndrome. Additionally 2 (likely founder) cases reported with clefting in probands with Juberg-Hayward syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.40 | ESCO2 | Eleanor Williams Gene: esco2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.39 | ESCO2 | Eleanor Williams Phenotypes for gene: ESCO2 were changed from ROBERTS SYNDROME; RBS, SC PHOCOMELIA SYNDROME to Roberts-SC phocomelia syndrome, OMIM:268300; Roberts-SC phocomelia syndrome, MONDO:0100253 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.38 | ESCO2 | Eleanor Williams Publications for gene: ESCO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.37 | ESCO2 | Eleanor Williams reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977150, 32255174, 15821733, 16380922, 18411254, 24864645; Phenotypes: Roberts-SC phocomelia syndrome, OMIM:268300, Roberts-SC phocomelia syndrome, MONDO:0100253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.37 | PLCB4 | Eleanor Williams Phenotypes for gene: PLCB4 were changed from Cleft palate to Auriculocondylar syndrome 2, OMIM:614669; auriculocondylar syndrome 2, MONDO:0013845 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.36 | PLCB4 | Eleanor Williams Publications for gene: PLCB4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.35 | PLCB4 | Eleanor Williams Mode of inheritance for gene: PLCB4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.34 | PLCB4 | Eleanor Williams Classified gene: PLCB4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.34 | PLCB4 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber as there are two cases of auriculocondylar syndrome 2 associated with variants in this gene where cleft palate is part of the phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.34 | PLCB4 | Eleanor Williams Gene: plcb4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.33 | PLCB4 | Eleanor Williams edited their review of gene: PLCB4: Changed rating: AMBER; Changed publications to: 16114046, 32201334, 27007857, 23913798, 2560091, 23315542; Changed phenotypes to: Auriculocondylar syndrome 2, OMIM:614669, auriculocondylar syndrome 2, MONDO:0013845; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.33 | PLCB4 | Eleanor Williams commented on gene: PLCB4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.33 | FLNA | Arina Puzriakova Phenotypes for gene: FLNA were changed from Orofacial Clefting with skeletal anomalies; Otopalatodigital syndrome, type I, 311300 (includes clefting); Otopalatodigital syndrome, type II, 304120 (includes clefting); Melnick-Needles syndrome, 309350 (includes clefting); OTOPALATODIGITAL SYNDROME, TYPE I; OPD1, OTOPALATODIGITAL SYNDROME, TYPE II; OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1 to Frontometaphyseal dysplasia 1, OMIM:305620; Melnick-Needles syndrome, OMIM:309350; Otopalatodigital syndrome, type I, OMIM:311300; Otopalatodigital syndrome, type II, OMIM:304120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.32 | RERE | Catherine Snow Classified gene: RERE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.32 | RERE | Catherine Snow Gene: rere has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.31 | RERE |
Catherine Snow gene: RERE was added gene: RERE was added to Clefting. Sources: Literature Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RERE were set to PMID: 33772547 Phenotypes for gene: RERE were set to clefting Review for gene: RERE was set to AMBER Added comment: Expansion of phenotype. RERE associated with neurodevelopmental disorder with or without anomalies of the brain, eye or heart (NEDBEH) A pathogenic, de novo c.4313_4318dupTCCACC proband had cleft palate, incomplete penetrance as other individuals with NEDBEH and same variant (PMID: 27087320 PMID: 29330883) did not display clefting phenotype. There is functional support in mouse models as RERE-deficient embryos have cleft palate. Previously one patient (subject 7) with NEDBEH has been described to have a cleft lip (PMID: 27087320) Therefore rating as Amber Sources: Literature |
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Clefting v2.30 | TRAPPC9 | Arina Puzriakova Publications for gene: TRAPPC9 were set to 20004764 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.29 | TRAPPC9 | Arina Puzriakova Phenotypes for gene: TRAPPC9 were changed from MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13 to Mental retardation, autosomal recessive 13, OMIM:613192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.28 | SEPT9 | Zornitza Stark reviewed gene: SEPT9: Rating: AMBER; Mode of pathogenicity: None; Publications: 18492087; Phenotypes: Amyotrophy, hereditary neuralgic, MIM# 162100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.28 | ACBD5 | Arina Puzriakova Classified gene: ACBD5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.28 | ACBD5 | Arina Puzriakova Added comment: Comment on list classification: Only a single patient reported with a cleft palate to date, and therefore rating Red on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.28 | ACBD5 | Arina Puzriakova Gene: acbd5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.27 | ACBD5 | Arina Puzriakova Phenotypes for gene: ACBD5 were changed from Cleft palate to Retinal dystrophy with leukodystrophy, OMIM:618863 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.26 | ACBD5 | Arina Puzriakova Publications for gene: ACBD5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.25 | ACBD5 | Arina Puzriakova Mode of inheritance for gene: ACBD5 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.24 | MED12 | Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33244166; Phenotypes: Hardikar syndrome, OMIM #612726; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.24 | ESCO2 | Zornitza Stark reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977150; Phenotypes: Juberg-Hayward syndrome, MIM# 216100, Roberts-SC phocomelia syndrome, MIM#268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.24 | FSHMD1A | Arina Puzriakova Tag curated_removed tag was added to gene: FSHMD1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.24 | ACBD5 | Zornitza Stark reviewed gene: ACBD5: Rating: RED; Mode of pathogenicity: None; Publications: 27799409, 23105016, 33427402; Phenotypes: Retinal dystrophy with leukodystrophy, MIM# 618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.24 | MYMK | Arina Puzriakova Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome 254940 to Carey-Fineman-Ziter syndrome, OMIM:254940; Carey-Fineman-Ziter syndrome, MONDO:0009700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.23 | MEIS2 | Arina Puzriakova Phenotypes for gene: MEIS2 were changed from Orofacial clefting; cardiac defects; intellectual disability; Cleft palate to Cleft palate, cardiac defects, and mental retardation, OMIM:600987; Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.22 | IFT52 | Arina Puzriakova Phenotypes for gene: IFT52 were changed from SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY; SRTD16 to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.21 | ICK | Arina Puzriakova Phenotypes for gene: ICK were changed from Endocrine-cerebroosteodysplasia, 612651 (includes cleft lip, cleft palate); ECO to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.20 | PLCB4 | Zornitza Stark reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23315542; Phenotypes: Auriculocondylar syndrome 2, MIM# 614669; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.20 | HYAL2 | Ivone Leong Tag for-review tag was added to gene: HYAL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.20 | POLR1B | Eleanor Williams changed review comment from: Comment on list classification: Promoting from red to amber but with green recommendation. 3 cases reported in which cleft palate was a feature.; to: Comment on list classification: Promoting from red to amber but with green recommendation following phenotype review by the GMS. 3 cases reported in which cleft palate was a feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.20 | POLR1B | Eleanor Williams Classified gene: POLR1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.20 | POLR1B | Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber but with green recommendation. 3 cases reported in which cleft palate was a feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.20 | POLR1B | Eleanor Williams Gene: polr1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.19 | POLR1B | Eleanor Williams Tag for-review tag was added to gene: POLR1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.19 | POLR1B |
Eleanor Williams changed review comment from: Associated with Treacher-Collins syndrome 4 #618939 (AD) in OMIM PMID: 31649276 - Sanchez et al 2020 - using exome sequencing they identified 6 patients (5 unrelated families) with heterozygous missense variants in POLR1B. In 3 cases the variants were de novo. One was inherited from the mother, and one from the father who was mosaic for the variant. 3 different variants are reported. The clinical phenotype was variable but all patients were reported with downward slanting palpebral fissures, Malar hypoplasia, and Conductive deafness, and 3 individuals from 3 different families had dleft palate. Morphilino knockdown of polr1b showed abnormal craniofacial development of zebrafish embryos Sources: Literature; to: Associated with Treacher-Collins syndrome 4 #618939 (AD) in OMIM PMID: 31649276 - Sanchez et al 2020 - using exome sequencing they identified 6 patients (5 unrelated families) with heterozygous missense variants in POLR1B. In 3 cases the variants were de novo. One was inherited from the mother, and one from the father who was mosaic for the variant. 3 different variants are reported. The clinical phenotype was variable but all patients were reported with downward slanting palpebral fissures, Malar hypoplasia, and Conductive deafness, and 3 individuals from 3 different families had cleft palate. Morphilino knockdown of polr1b showed abnormal craniofacial development of zebrafish embryos Sources: Literature |
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Clefting v2.19 | POLR1B |
Eleanor Williams gene: POLR1B was added gene: POLR1B was added to Clefting. Sources: Literature Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR1B were set to 31649276 Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome 4 OMIM:618939; treacher collins syndrome 4 MONDO:0030067 Review for gene: POLR1B was set to GREEN Added comment: Associated with Treacher-Collins syndrome 4 #618939 (AD) in OMIM PMID: 31649276 - Sanchez et al 2020 - using exome sequencing they identified 6 patients (5 unrelated families) with heterozygous missense variants in POLR1B. In 3 cases the variants were de novo. One was inherited from the mother, and one from the father who was mosaic for the variant. 3 different variants are reported. The clinical phenotype was variable but all patients were reported with downward slanting palpebral fissures, Malar hypoplasia, and Conductive deafness, and 3 individuals from 3 different families had dleft palate. Morphilino knockdown of polr1b showed abnormal craniofacial development of zebrafish embryos Sources: Literature |
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Clefting v2.18 | AMOTL1 | Eleanor Williams Classified gene: AMOTL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.18 | AMOTL1 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to red. 2 cases but mouse model does not recapitulate the phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.18 | AMOTL1 | Eleanor Williams Gene: amotl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.17 | AMOTL1 | Eleanor Williams Phenotypes for gene: AMOTL1 were changed from Cleft lip and palate; imperforate anus; dysmorphism to cleft lip/palate MONDO:0016044; imperforate anus; dysmorphism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.16 | AMOTL1 | Eleanor Williams Publications for gene: AMOTL1 were set to 33026150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.15 | AMOTL1 | Eleanor Williams edited their review of gene: AMOTL1: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.15 | AMOTL1 | Eleanor Williams reviewed gene: AMOTL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33026150, 30375152; Phenotypes: cleft lip/palate MONDO:0016044; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.15 | HYAL2 | Eleanor Williams Phenotypes for gene: HYAL2 were changed from Cleft lip and palate, cor triatriatum to cleft lip/palate MONDO:0016044; triatrial heart MONDO:0015450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.14 | HYAL2 | Eleanor Williams Classified gene: HYAL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.14 | HYAL2 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber but with recommendation for green rating following GMS review. This is based on 2 reported unrelated cases with different proposed causative variants in HYAL2, plus a mouse knockout model which replicates the human phenotype and some functional data reporting the effect of patient variants on protein levels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.14 | HYAL2 | Eleanor Williams Gene: hyal2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.13 | HYAL2 | Eleanor Williams edited their review of gene: HYAL2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.13 | HYAL2 | Eleanor Williams reviewed gene: HYAL2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28081210; Phenotypes: cleft lip/palate MONDO:0016044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.13 | SMC1A | Arina Puzriakova Phenotypes for gene: SMC1A were changed from CORNELIA DE LANGE SYNDROME 2; CDLS2 to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044; Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.12 | KCNJ2 | Arina Puzriakova Phenotypes for gene: KCNJ2 were changed from ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Cleft palate to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.11 | MED25 | Eleanor Williams Phenotypes for gene: MED25 were changed from BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME; BVSYS to Basel-Vanagait-Smirin-Yosef syndrome OMIM:616449 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.10 | MED25 | Eleanor Williams Publications for gene: MED25 were set to 25792360 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.9 | MED25 | Eleanor Williams Classified gene: MED25 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.9 | MED25 | Eleanor Williams Added comment: Comment on list classification: Leaving the rating as Amber for now, but there are sufficient cases with clefting to promote this gene to green on this panel after the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.9 | MED25 | Eleanor Williams Gene: med25 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.8 | MED25 | Eleanor Williams Tag for-review tag was added to gene: MED25. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.8 | MED25 | Eleanor Williams reviewed gene: MED25: Rating: ; Mode of pathogenicity: None; Publications: 31602195, 32324310, 32816121; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome OMIM:616449; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.8 | MAPRE2 | Arina Puzriakova Phenotypes for gene: MAPRE2 were changed from SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2 to Symmetric circumferential skin creases, congenital, 2, 616734 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.7 | MAPRE2 | Arina Puzriakova Publications for gene: MAPRE2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.6 | MAPRE2 | Arina Puzriakova Mode of inheritance for gene: MAPRE2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.5 | AMOTL1 |
Zornitza Stark gene: AMOTL1 was added gene: AMOTL1 was added to Clefting. Sources: Literature Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AMOTL1 were set to 33026150 Phenotypes for gene: AMOTL1 were set to Cleft lip and palate; imperforate anus; dysmorphism Review for gene: AMOTL1 was set to RED Added comment: Two unrelated families reported. In one, the variant was identified in parent and child who had orofacial cleft and cardiac abnormalities. Second report in PMID 33026150, de novo missense variant and cleft lip/palate, imperforate anus and dysmorphism. Mouse model does not recapitulate phenotype. Sources: Literature |
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Clefting v2.5 | KAT5 | Arina Puzriakova Classified gene: KAT5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.5 | KAT5 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Konstantinos Varvagiannis. Two unrelated cases reported in PMID:32822602 and additional cases required before inclusion on a diagnostic panel. Rating Amber, awaiting further publications/clinical evidence to corroborate the association with this phenotype. |
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Clefting v2.5 | KAT5 | Arina Puzriakova Gene: kat5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.4 | CTNND1 | Eleanor Williams Publications for gene: CTNND1 were set to 28301459 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.3 | HYAL2 |
Aleš Maver changed review comment from: This entry is based on finding of homozygous HYAL2 variants in two inbred families with cleft lip and palate (CLP) in PMID:28081210. Five Amish individuals aged 4–16 years affected by a syndromic form of CLP were reported with a homozygous variant K148R variant in HYAL2 gene and two children aged 7 and 12 years from an extended consanguineous Arab family were reported with a homozygous P250L variant in HYAL2 gene. Reduced expression of the HYAL2 protein consequental to the two missense variants was shown in functional assays (PMID:28081210). Study of Hyal2 knock-out mice has also shown underdeveloped central palate bones and absence/reduction of ethmoid bone. The entry is based on this single study, therefore currently leaving this at Red level of evidence. Sources: Literature; to: This entry is based on finding of homozygous HYAL2 variants in two inbred families with cleft lip and palate (CLP) in PMID:28081210. Five Amish individuals aged 4–16 years affected by a syndromic form of CLP were reported with a homozygous variant K148R in HYAL2 gene and two children aged 7 and 12 years from an extended consanguineous Arab family were reported with a homozygous P250L variant in HYAL2 gene. Reduced expression of the HYAL2 protein consequental to the two missense variants was shown in functional assays (PMID:28081210). Study of Hyal2 knock-out mice has also shown underdeveloped central palate bones and absence/reduction of ethmoid bone. The entry is based on this single study, therefore currently leaving this at Red level of evidence. Sources: Literature |
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Clefting v2.3 | HYAL2 |
Aleš Maver changed review comment from: This entry is based on finding of homozygous HYAL2 variants in two inbred families with cleft lip and palate (CLP) in PMID:28081210. Five Amish individuals aged 4–16 years affected by a syndromic form of CLP were reported with a homozygous variant K148R variant in HYAL2 gene and two children aged 7 and 12 years from an extended consanguineous Arab family were reported with a homozygous P250L variant in HYAL2 gene. Reduced expression of the HYAL2 protein consequental to the two missense vairants was shown in functional assays (PMID:28081210). Study of Hyal2 knock-out mice has also shown underdeveloped central palate bones and absence/reduction of ethmoid bone. The entry is based on this single study, therefore currently leaving this at Red level of evidence. Sources: Literature; to: This entry is based on finding of homozygous HYAL2 variants in two inbred families with cleft lip and palate (CLP) in PMID:28081210. Five Amish individuals aged 4–16 years affected by a syndromic form of CLP were reported with a homozygous variant K148R variant in HYAL2 gene and two children aged 7 and 12 years from an extended consanguineous Arab family were reported with a homozygous P250L variant in HYAL2 gene. Reduced expression of the HYAL2 protein consequental to the two missense variants was shown in functional assays (PMID:28081210). Study of Hyal2 knock-out mice has also shown underdeveloped central palate bones and absence/reduction of ethmoid bone. The entry is based on this single study, therefore currently leaving this at Red level of evidence. Sources: Literature |
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Clefting v2.3 | HYAL2 |
Aleš Maver changed review comment from: This entry is based on finding of homozygous HYAL2 variants in two inbred families with cleft lip and palate (CLP). Five Amish individuals aged 4–16 years affected by a syndromic form of CLP were reported with a homozygous variant K148R variant in HYAL2 gene and two children aged 7 and 12 years from an extended consanguineous Arab family were reported with a homozygous P250L variant in HYAL2 gene. Reduced expression of the HYAL2 protein consequental to the two missense vairants was shown in functional assays (PMID:28081210). Study of Hyal2 knock-out mice has also shown underdeveloped central palate bones and absence/reduction of ethmoid bone. The entry is based on this single study, therefore currently leaving this at Red level of evidence. Sources: Literature; to: This entry is based on finding of homozygous HYAL2 variants in two inbred families with cleft lip and palate (CLP) in PMID:28081210. Five Amish individuals aged 4–16 years affected by a syndromic form of CLP were reported with a homozygous variant K148R variant in HYAL2 gene and two children aged 7 and 12 years from an extended consanguineous Arab family were reported with a homozygous P250L variant in HYAL2 gene. Reduced expression of the HYAL2 protein consequental to the two missense vairants was shown in functional assays (PMID:28081210). Study of Hyal2 knock-out mice has also shown underdeveloped central palate bones and absence/reduction of ethmoid bone. The entry is based on this single study, therefore currently leaving this at Red level of evidence. Sources: Literature |
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Clefting v2.3 | HYAL2 |
Aleš Maver gene: HYAL2 was added gene: HYAL2 was added to Clefting. Sources: Literature Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL2 were set to 28081210 Phenotypes for gene: HYAL2 were set to Cleft lip and palate, cor triatriatum Penetrance for gene: HYAL2 were set to unknown Review for gene: HYAL2 was set to RED Added comment: This entry is based on finding of homozygous HYAL2 variants in two inbred families with cleft lip and palate (CLP). Five Amish individuals aged 4–16 years affected by a syndromic form of CLP were reported with a homozygous variant K148R variant in HYAL2 gene and two children aged 7 and 12 years from an extended consanguineous Arab family were reported with a homozygous P250L variant in HYAL2 gene. Reduced expression of the HYAL2 protein consequental to the two missense vairants was shown in functional assays (PMID:28081210). Study of Hyal2 knock-out mice has also shown underdeveloped central palate bones and absence/reduction of ethmoid bone. The entry is based on this single study, therefore currently leaving this at Red level of evidence. Sources: Literature |
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Clefting v2.3 | CTNND1 | Eleanor Williams changed review comment from: PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).; to: PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. 8/13 patients showed cleft palate. Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.3 | CTNND1 | Eleanor Williams reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32196547; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.3 | KAT5 |
Konstantinos Varvagiannis gene: KAT5 was added gene: KAT5 was added to Clefting. Sources: Literature Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KAT5 were set to 32822602 Phenotypes for gene: KAT5 were set to Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face Mode of pathogenicity for gene: KAT5 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: KAT5 was set to AMBER Added comment: Humbert el al (2020 - PMID: 32822602) report 3 individuals with de novo missense KAT5 variants. Features included severe DD (3/3) and ID (2/2 - the 3rd was 18m on last examination), microcephaly (2/3), behavioral anomalies (3/3) including severe sleep disorder (3/3 - table S1 / night walking, sleep onset delay, excessive daytime sleepiness), seizures (3/3 - variable type and age of onset), brain MRI abnormalities (3/3 - CC, cerebellar atrophy each in 2 subjects, focal polymicrogyria in 1), various genitourinary anomalies (3/3). All had moderately short stature (-1.95 SD to -2.9SD). Cleft LP and submucous cleft P were observed in 2/3. Facial features included round face, flat profile, depressed nasal bridge, downturned corners of mouth and prognathism (each in at least 2 subjects). KAT5 encodes a lysine acetyltransferase involved in gene expression, DNA repair, chromatine remodeling, apoptosis and cell proliferation. It is part of the NuA4 histone acetyltransferase (HAT) complex also called TIP60/p400 (TIP60 being another name for KAT5). Regulation by histone acetylation is important for proper development. 3 missense KAT5 SNVs were identified, one within the chromobarrel domain (aa 7-65 / NM_006388.3) and 2 in the acetyl-CoA binding domain (aa 365-420). Following generation of K562 cells expressing either WT or variants, it was demonstrated that wt/mt KAT5 assemble normally into NuA4/TIP60 complexes. Histone acetyltransferase activity was however impaired for all variants, suggesting a partial loss of function mechanism. As Humbert et al comment, it is possible that KAT5 haploinsufficiency does not lead to a syndrome. Over 10 high-confidence LoF variants are listed in gnomAD. Heterozygous Kat5 ko mice have normal development, growth and fertility. Homozygous ko mice are embryonic lethal. In haploinsufficient mice, reduction of mRNA to 50% has been shown to be compensated at the protein level in adipose and/or other tissues (several studies cited). RNA-Seq in fibroblasts from 2 affected individuals revealed dysregulation of highly relevant genes (e.g. for neurodevelopment, circadian clock, etc). Mutations in KAT6A/B, encoding two other acetyltransferases cause neurodevelopmental disorders with features overlapping those observed in individuals with KAT5 variants (e.g. DD/ID, microcephaly, seizures, sleep disturbance, clefts, CC or genital anomalies). Consider inclusion in the ID and epilepsy panels with green rating as well as the gene panel for clefting with amber. Sources: Literature |
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Clefting v2.3 | FSHMD1A | Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: FSHMD1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.3 | PIGA | Sarah Leigh Tag Skewed X-inactivation tag was added to gene: PIGA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.3 | WDR34 | Catherine Snow commented on gene: WDR34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.3 | WDR34 | Catherine Snow Tag new-gene-name tag was added to gene: WDR34. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.3 | WDR60 | Catherine Snow commented on gene: WDR60 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.3 | WDR60 | Catherine Snow Tag new-gene-name tag was added to gene: WDR60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.0 | Eleanor Williams promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.61 | Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.60 | ARHGAP29 | Catherine Snow Classified gene: ARHGAP29 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.60 | ARHGAP29 | Catherine Snow Gene: arhgap29 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.59 | ARHGAP29 | Catherine Snow reviewed gene: ARHGAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.59 | ALX1 | Eleanor Williams commented on gene: ALX1: Amber rating confirmed by Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.59 | ICK | Eleanor Williams commented on gene: ICK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.59 | ICK | Eleanor Williams Tag new-gene-name tag was added to gene: ICK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.59 | KIF1BP | Louise Daugherty Tag new-gene-name tag was added to gene: KIF1BP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.59 | KIF1BP | Louise Daugherty commented on gene: KIF1BP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.59 | FBXO11 | Eleanor Williams Classified gene: FBXO11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.59 | FBXO11 | Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber as there are some cases reported, but the incidence of clefting is low and in one paper they felt the clefting phenotype was not related to the main phenotype of developmental delay. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.59 | FBXO11 | Eleanor Williams Gene: fbxo11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.58 | EIF4A3 | Louise Daugherty Mode of inheritance for gene: EIF4A3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.57 | FBXO11 | Catherine Snow Publications for gene: FBXO11 were set to 30057029; 30679813; 17035249 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.57 | FBXO11 | Catherine Snow Publications for gene: FBXO11 were set to 30057029; 30679813 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.56 | FBXO11 |
Catherine Snow edited their review of gene: FBXO11: Added comment: PMID:30057029 reports on 20 individuals with a variable neurodevelopmental disorder all with de novo variants in FBXO11. Three of the individuals had clefting phenotypes. One had a cleft lip (c.1825_ 1829del (p.Glu609*), one had a cleft palate (c.2729A>G (p.Asp910Gly) and one had a bifid uvula (c.1868C>G (p.Thr623Arg)). All individuals had developmental delay. PMID:30679813 reports on 24 individuals with de novo variants in FBXO11, one individual had a submucosal cleft palate, although the authors feel that this was not related to the phenotype of DD/ID that was found in all the individuals. PMID:17035249 - A mutation in the F-box gene, Fbxo11 causes otitis media in the Jeff mouse found that homozygous Fbxo11 mutants all have clefting of the hard or soft palate as well as facial clefting. Hetrozygous mouse had no clefting phenotypes.; Changed publications: 30057029, 30679813, 17035249 |
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Clefting v1.56 | FBXO11 |
Catherine Snow gene: FBXO11 was added gene: FBXO11 was added to Clefting. Sources: Expert list Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXO11 were set to 30057029; 30679813 Phenotypes for gene: FBXO11 were set to cleft lip; Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 Review for gene: FBXO11 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Clefting v1.55 | EIF4A3 | Catherine Snow Phenotypes for gene: EIF4A3 were changed from Cleft palate to Cleft palate; Robin sequence with cleft mandible and limb anomalies, 268305; Richieri-Costa-Pereira syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.54 | EIF4A3 | Catherine Snow Publications for gene: EIF4A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.53 | EIF4A3 | Catherine Snow Classified gene: EIF4A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.53 | EIF4A3 | Catherine Snow Gene: eif4a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.52 | POLR1A | Catherine Snow Phenotypes for gene: POLR1A were changed from cleft lip to cleft palte | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.51 | POLR1A | Catherine Snow Classified gene: POLR1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.51 | POLR1A | Catherine Snow Gene: polr1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.50 | POLR1A |
Catherine Snow commented on gene: POLR1A: PMID: 25913037 : Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies identified POLR1A in three unrelated individuals. One individual had a cleft palate, the other individuals had craniofacial features but not specifically a cleft palate. POLR1A is associated with cleft palate in OMIM based on this paper and is in Gene2Phenotype as a DD Gene, associated with Disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE. As insufficient number of cases, classifying as Amber. |
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Clefting v1.50 | POLR1A |
Catherine Snow gene: POLR1A was added gene: POLR1A was added to Clefting. Sources: Expert list Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR1A were set to 25913037 Phenotypes for gene: POLR1A were set to cleft lip Review for gene: POLR1A was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Clefting v1.49 | PLEKHA7 | Catherine Snow changed review comment from: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic variant (chr11:g.16838582C>T;p.Gly544Asp) was identified in one family. Further analysis of 497 individuals identified a further likely pathogenic variant and another variant of unknown significance both variants were found in the same family (chr11:g.16838676G>A;p.Arg513Trp and chr11:g.16834682T>C;p.Asp662Gly), a further variant of unknown significance was identified in another family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; to: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic variant (chr11:g.16838582C>T;p.Gly544Asp) was identified in one family. Further analysis of 497 individuals identified a likely pathogenic variant and another variant of unknown significance both variants were found in the same family (chr11:g.16838676G>A;p.Arg513Trp and chr11:g.16834682T>C;p.Asp662Gly), a further variant of unknown significance was identified in another family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.49 | PLEKHA7 | Catherine Snow changed review comment from: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant (chr11:g.16838582C>T;p.Gly544Asp) was identified in one family. Further analysis of 497 individuals identified a further pathogenic variant and another variant of unknown significance both variants were found in the same family (chr11:g.16838676G>A;p.Arg513Trp and chr11:g.16834682T>C;p.Asp662Gly), a further variant of unknown significance was identified in another family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; to: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic variant (chr11:g.16838582C>T;p.Gly544Asp) was identified in one family. Further analysis of 497 individuals identified a further likely pathogenic variant and another variant of unknown significance both variants were found in the same family (chr11:g.16838676G>A;p.Arg513Trp and chr11:g.16834682T>C;p.Asp662Gly), a further variant of unknown significance was identified in another family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.49 | PLEKHA5 | Catherine Snow changed review comment from: PMID: 29805042 Cox et al. Identified PLEKHA5 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic de novo variant was identified in one family (chr12:g.19440414A>G;p.Tyr590Cys). Further analysis of 497 individuals identified 5 variants of unknown significance. PLEKHA5 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; to: PMID: 29805042 Cox et al. Identified PLEKHA5 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic de novo variant was identified in one family (chr12:g.19440414A>G;p.Tyr590Cys). Further analysis of 497 individuals identified 5 variants of unknown significance. PLEKHA5 has no phenotypes associated in OMIM or disease association in Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.49 | PLEKHA5 | Catherine Snow changed review comment from: PMID: 29805042 Cox et al. Identified PLEKHA5 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant was identified in one family (chr12:g.19440414A>G;p.Tyr590Cys). Further analysis of 497 individuals identified 5 variants of unknown significance. PLEKHA5 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; to: PMID: 29805042 Cox et al. Identified PLEKHA5 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic de novo variant was identified in one family (chr12:g.19440414A>G;p.Tyr590Cys). Further analysis of 497 individuals identified 5 variants of unknown significance. PLEKHA5 has no phenotypes associated in OMIM or disease association in Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.49 | ESRP2 | Catherine Snow Classified gene: ESRP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.49 | ESRP2 | Catherine Snow Gene: esrp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.49 | ESRP2 | Catherine Snow Classified gene: ESRP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.49 | ESRP2 | Catherine Snow Gene: esrp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.48 | ESRP2 | Catherine Snow edited their review of gene: ESRP2: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.48 | ESRP2 | Catherine Snow edited their review of gene: ESRP2: Added comment: PMID: 29805042 Cox et al. Identified ESRP2 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic variant (chr16:g.68266284C>T;p.Arg315) was identified in one family. Further analysis of 497 individuals identified a further likely pathogenic variant (chr16:g.68265234G>A;p.Arg520*) in another family. ESRP2 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.48 | ESRP2 |
Catherine Snow gene: ESRP2 was added gene: ESRP2 was added to Clefting. Sources: Expert list Mode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ESRP2 were set to 29805042 Phenotypes for gene: ESRP2 were set to cleft lip Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Clefting v1.47 | PLEKHA7 | Catherine Snow changed review comment from: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant was identified in one family. Further analysis of 497 individuals identified a further pathogenic variant and another variant of unknown significance both variants were found in the same family, a further variant of unknown significance was identified in a family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; to: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant (chr11:g.16838582C>T;p.Gly544Asp) was identified in one family. Further analysis of 497 individuals identified a further pathogenic variant and another variant of unknown significance both variants were found in the same family (chr11:g.16838676G>A;p.Arg513Trp and chr11:g.16834682T>C;p.Asp662Gly), a further variant of unknown significance was identified in another family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.47 | PLEKHA5 | Catherine Snow edited their review of gene: PLEKHA5: Added comment: PMID: 29805042 Cox et al. Identified PLEKHA5 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant was identified in one family (chr12:g.19440414A>G;p.Tyr590Cys). Further analysis of 497 individuals identified 5 variants of unknown significance. PLEKHA5 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.47 | PLEKHA7 | Catherine Snow changed review comment from: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant was identified in one family. Further analysis of 497 individuals identified a further pathogenic variant and another variant of unknown significance both variants were found in the same family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; to: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant was identified in one family. Further analysis of 497 individuals identified a further pathogenic variant and another variant of unknown significance both variants were found in the same family, a further variant of unknown significance was identified in a family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.47 | PLEKHA5 |
Catherine Snow gene: PLEKHA5 was added gene: PLEKHA5 was added to Clefting. Sources: Expert list Mode of inheritance for gene: PLEKHA5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PLEKHA5 were set to 29805042 Phenotypes for gene: PLEKHA5 were set to cleft lip Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Clefting v1.46 | PLEKHA7 | Catherine Snow Classified gene: PLEKHA7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.46 | PLEKHA7 | Catherine Snow Gene: plekha7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.45 | PLEKHA7 | Catherine Snow commented on gene: PLEKHA7: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant was identified in one family. Further analysis of 497 individuals identified a further pathogenic variant and another variant of unknown significance both variants were found in the same family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.45 | PLEKHA7 |
Catherine Snow gene: PLEKHA7 was added gene: PLEKHA7 was added to Clefting. Sources: Expert list Mode of inheritance for gene: PLEKHA7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PLEKHA7 were set to 29805042 Phenotypes for gene: PLEKHA7 were set to cleft lip Review for gene: PLEKHA7 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Clefting v1.44 | ALX1 | Catherine Snow Classified gene: ALX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.44 | ALX1 | Catherine Snow Added comment: Comment on list classification: Changed to Amber based on Eleanor Williams review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.44 | ALX1 | Catherine Snow Gene: alx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.43 | EIF4A3 | Catherine Snow reviewed gene: EIF4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10594883, 29922329, 29112243; Phenotypes: Robin sequence with cleft mandible and limb anomalies, 268305, Richieri-Costa-Pereira syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.43 | BMP2 | Catherine Snow Phenotypes for gene: BMP2 were changed from Cleft palate to Cleft palate; Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.42 | BMP2 | Catherine Snow Publications for gene: BMP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.41 | BMP2 | Catherine Snow Mode of inheritance for gene: BMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.40 | BMP2 | Catherine Snow Classified gene: BMP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.40 | BMP2 | Catherine Snow Gene: bmp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.39 | BMP2 | Catherine Snow reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671386, 29198724; Phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.39 | Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.37 | ALX1 | Eleanor Williams Phenotypes for gene: ALX1 were changed from to ?Frontonasal dysplasia 3, 613456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.36 | ALX1 | Eleanor Williams Publications for gene: ALX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.35 | ALX1 |
Eleanor Williams commented on gene: ALX1: This gene is provisionally associated with ?Frontonasal dysplasia 3 (#613456) in OMIM. PMID: 20451171 - Uz et al. (2010) - 2 families presenting with autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism, wide nasal bridge with hypoplasia of the ala nasi, and low-set, posteriorly rotated ears in two distinct families. In one family they found a three siblings were affected, and CNV analysis of the critical region showed a homozygous 3.7 Mb deletion containing the ALX1 (CART1) gene. In the second family a homozygous donor-splice-site mutation (c.531+1G > A) in the ALX1 gene was found. PMID: 27324866 - Ullah et al 2017 - report a consanguineous family from Pakistan with four individuals presenting a milder form of Frontonasal dysplasia. Using exome sequencing, a homozygous splice acceptor site variant has been identified in the ALX1 gene. NO CLEFTING REPORTED. |
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Clefting v1.35 | ALX1 |
Eleanor Williams gene: ALX1 was added gene: ALX1 was added to Clefting. Sources: Expert list Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: ALX1 was set to AMBER Added comment: Gene suggested by Andrew Wilkie, University of Oxford Sources: Expert list |
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Clefting v1.34 | SEPT9 | Louise Daugherty Tag new-gene-name tag was added to gene: SEPT9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.34 | SEPT9 | Louise Daugherty commented on gene: SEPT9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.34 | CHD1 | Ellen McDonagh commented on gene: CHD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.33 | Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.32 | DVL3 | Louise Daugherty Classified gene: DVL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.32 | DVL3 | Louise Daugherty Added comment: Comment on list classification: changed rating from Red to Green. There is enough evidence to support the upgrading of the rating of this gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.32 | DVL3 | Louise Daugherty Gene: dvl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.31 | DVL3 |
Louise Daugherty gene: DVL3 was added gene: DVL3 was added to Clefting. Sources: Other Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DVL3 were set to 26924530; 29575616 Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3, 616894 Review for gene: DVL3 was set to GREEN Added comment: PMID: 26924530 White et al. (2016) described five patients with Robinow syndrome-3 and identified heterozygosity for mutations in DVL3, all predicted to result in a frameshift to the -1 reading frame and a premature termination codon in the last exon. From Gel clinical team: Stittrich et al (PMID: 26924530 ) looked for variants in DVL3 in patients with Robinow syndrome and no previously identified mutation; because mutations had previously described in DVL1 and there was functional redundancy between the genes. They identified 4 de novo frameshift variants in their cohort of 17 patients. Danyal et al (PMID: 29575616) identified a frame shift variant in a further patient with Robinow syndrome. Sources: Other |
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Clefting v1.30 | TGFB2 | Louise Daugherty Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome to Loeys-Dietz syndrome 4, 614816 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.29 | TGFB2 |
Anna de Burca gene: TGFB2 was added gene: TGFB2 was added to Clefting. Sources: Literature Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFB2 were set to 29392890 Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome Review for gene: TGFB2 was set to AMBER Added comment: Recently described as a cause of Loeys-Dietz syndrome. Only a small number of cases have been described in the literature, but clefting has been a feature in some cases. Sources: Literature |
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Clefting v1.28 | SMAD2 |
Anna de Burca gene: SMAD2 was added gene: SMAD2 was added to Clefting. Sources: Literature Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD2 were set to 29967133; 29392890 Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome Review for gene: SMAD2 was set to AMBER Added comment: Variants in this gene have recently been associated with Loeys-Dietz syndrome. Since only a small number of cases have been described to date, further work is required to determine whether individuals with variants in SMAD2 commonly present with the craniofacial features associated with this condition. Sources: Literature |
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Clefting v1.27 | ISCA-37433-Loss |
Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss Added phenotypes 188400; immune deficiency; renal anomalies; 22q11.2 deletion syndrome; 192430; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; polyhydramnios; Velocardiofacial syndrome; Learning difficulties; diaphragmatic hernia; DiGeorge syndrome; congenital heart disease; cleft palate, polydactyly for Region: ISCA-37433-Loss Publications for Region: ISCA-37433-Loss were changed from 15545748; 15889418; 20301696 to 15889418; 20301696; 15545748 |
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Clefting v1.27 | ISCA-37446-Loss |
Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss Added phenotypes 188400; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; micrognathia; clefting; Hearing deficits; Velocardiofacial syndrome; cardiac malformations; DiGeorge syndrome for Region: ISCA-37446-Loss |
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Clefting v1.26 | ISCA-37433-Loss | Louise Daugherty GRCh38 position for ISCA-37433-Loss was changed from 18178958-20324381 to 18924718-20299686. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.26 | ISCA-37446-Loss | Louise Daugherty GRCh38 position for ISCA-37446-Loss was changed from 18178958-21207225 to 18924718-21111384. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v1.25 | ISCA-37423-Gain |
Louise Daugherty Region: ISCA-37423-Gain was added Region: ISCA-37423-Gain was added to Clefting. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37423-Gain were set to 21933911; 23345203 Phenotypes for Region: ISCA-37423-Gain were set to Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.; mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly); congenital heart disease; 8p23.1 duplication syndrome |
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Clefting v1.25 | ISCA-37433-Loss |
Louise Daugherty Region: ISCA-37433-Loss was added Region: ISCA-37433-Loss was added to Clefting. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37433-Loss were set to 15545748; 15889418; 20301696 Phenotypes for Region: ISCA-37433-Loss were set to facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; diaphragmatic hernia; Learning difficulties; 192430; immune deficiency; congenital heart disease; 22q11.2 deletion syndrome; Velocardiofacial syndrome; DiGeorge syndrome; cleft palate, polydactyly; polyhydramnios; 188400; renal anomalies |
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Clefting v1.25 | ISCA-37446-Loss |
Louise Daugherty Region: ISCA-37446-Loss was added Region: ISCA-37446-Loss was added to Clefting. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37446-Loss were set to cardiac malformations; clefting; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; Velocardiofacial syndrome; DiGeorge syndrome; micrognathia; Hearing deficits; 188400 |
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Clefting v1.25 | ISCA-37467-Gain |
Louise Daugherty Region: ISCA-37467-Gain was added Region: ISCA-37467-Gain was added to Clefting. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37467-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37467-Gain were set to 19291772; 18417549; 18178630 Phenotypes for Region: ISCA-37467-Gain were set to human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype; 174500; Triphalangeal thumbpolysyndactyly syndrome; syndactyly type IV with tibial hypoplasia |
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Clefting v1.25 | ISCA-37393-Gain |
Louise Daugherty Region: ISCA-37393-Gain was added Region: ISCA-37393-Gain was added to Clefting. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37393-Gain were set to 11693792; 22890013; 22495764 Phenotypes for Region: ISCA-37393-Gain were set to PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome; 115470 |
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Clefting | TGFBR2 | Louise Daugherty classified TGFBR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TSR2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TFAP2B | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SELENOI | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | RSPO2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | RPL11 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PLCB4 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PGM1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | INTS1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GNAI3 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FOXE1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | EIF4A3 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | EDN1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL9A3 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CHD1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | BMP2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ACBD5 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TGFBR2 | Anna de Burca Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | USP9X | Sarah Leigh classified USP9X as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | USP9X | Sarah Leigh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CDH1 | Ellen McDonagh commented on CDH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | C5orf42 | Louise Daugherty commented on C5orf42 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MED25 | Louise Daugherty commented on MED25 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | RBPJ | Louise Daugherty commented on RBPJ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DLG1 | Ellen McDonagh added DLG1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DLG1 | Ellen McDonagh reviewed DLG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DDX3X | Louise Daugherty commented on DDX3X | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TMEM8C | Sarah Leigh classified TMEM8C as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TMEM8C | Sarah Leigh added TMEM8C to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TMEM8C | Sarah Leigh reviewed TMEM8C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FSHMD1A | Louise Daugherty classified FSHMD1A as grey | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TGFB3 | Ellen McDonagh reviewed TGFB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ZIC3 | Helen Brittain commented on ZIC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KDM1A | Louise Daugherty edited their review of KDM1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PTDSS1 | Louise Daugherty commented on PTDSS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PTDSS1 | Philip Stanier reviewed PTDSS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | Louise Daugherty promoted panel to version 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PHGDH | Louise Daugherty commented on PHGDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PIGV | Ellen McDonagh marked PIGV as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PIGN | Ellen McDonagh marked PIGN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PHGDH | Ellen McDonagh commented on PHGDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PIK3R2 | Olivia Niblock reviewed PIK3R2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PIGL | Olivia Niblock reviewed PIGL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PIGA | Olivia Niblock reviewed PIGA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PGAP2 | Olivia Niblock reviewed PGAP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | NSDHL | Olivia Niblock reviewed NSDHL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GDF1 | Olivia Niblock reviewed GDF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GATA6 | Olivia Niblock reviewed GATA6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | NKX2-6 | Olivia Niblock reviewed NKX2-6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | NKX2-5 | Olivia Niblock reviewed NKX2-5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PHGDH | Olivia Niblock reviewed PHGDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TBX1 | Olivia Niblock reviewed TBX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PIGV | Olivia Niblock reviewed PIGV | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PIGN | Olivia Niblock reviewed PIGN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PTDSS1 | Ellen McDonagh marked PTDSS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PTDSS1 | Ellen McDonagh classified PTDSS1 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PTDSS1 | Ellen McDonagh classified PTDSS1 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PTDSS1 | Ellen McDonagh added PTDSS1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PTDSS1 | Ellen McDonagh reviewed PTDSS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PSAT1 | Louise Daugherty added PSAT1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PSAT1 | Louise Daugherty reviewed PSAT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | POMT1 | Louise Daugherty added POMT1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | POMT1 | Louise Daugherty reviewed POMT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FLNA | Arianna Tucci marked FLNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FLNA | Arianna Tucci commented on FLNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FLNA | Arianna Tucci classified FLNA as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL9A2 | Arianna Tucci reviewed COL9A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PQBP1 | Louise Daugherty added PQBP1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PQBP1 | Louise Daugherty reviewed PQBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PORCN | Louise Daugherty classified PORCN as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ATR | Arianna Tucci commented on ATR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ATR | Arianna Tucci commented on ATR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PORCN | Louise Daugherty added PORCN to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PORCN | Louise Daugherty reviewed PORCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | BMP4 | Ellen McDonagh classified BMP4 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | BMP4 | Ellen McDonagh classified BMP4 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CASK | Ellen McDonagh reviewed CASK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CANT1 | Ellen McDonagh reviewed CANT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | B3GAT3 | Ellen McDonagh reviewed B3GAT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ATRX | Ellen McDonagh reviewed ATRX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ARCN1 | Ellen McDonagh reviewed ARCN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SMG9 | Ellen McDonagh reviewed SMG9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | BUB1B | Ellen McDonagh reviewed BUB1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | BMP4 | Ellen McDonagh reviewed BMP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | B4GALT7 | Ellen McDonagh reviewed B4GALT7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | B3GALT6 | Ellen McDonagh reviewed B3GALT6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ATR | Ellen McDonagh reviewed ATR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ALX3 | Ellen McDonagh reviewed ALX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | BCOR | Ellen McDonagh reviewed BCOR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | POMT2 | Louise Daugherty added POMT2 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | POMT2 | Louise Daugherty reviewed POMT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CKAP2L | Louise Daugherty added CKAP2L to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CKAP2L | Louise Daugherty reviewed CKAP2L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CC2D2A | Louise Daugherty classified CC2D2A as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CC2D2A | Louise Daugherty added CC2D2A to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CC2D2A | Louise Daugherty reviewed CC2D2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CDC45 | Louise Daugherty classified CDC45 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CDC45 | Louise Daugherty added CDC45 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CDC45 | Louise Daugherty reviewed CDC45 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CDKN1C | Louise Daugherty commented on CDKN1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KIAA0196 | Ellen McDonagh commented on KIAA0196 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | YAP1 | Arianna Tucci reviewed YAP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KIAA0196 | Arianna Tucci reviewed KIAA0196 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | WNT3 | Arianna Tucci reviewed WNT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | VAX1 | Arianna Tucci reviewed VAX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | UQCC2 | Arianna Tucci reviewed UQCC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | STXBP1 | Arianna Tucci reviewed STXBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | STRA6 | Arianna Tucci reviewed STRA6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | STIL | Arianna Tucci reviewed STIL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | LMNA | Arianna Tucci reviewed LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ZMPSTE24 | Arianna Tucci reviewed ZMPSTE24 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ZBTB24 | Arianna Tucci reviewed ZBTB24 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ZIC2 | Arianna Tucci reviewed ZIC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ZEB2 | Arianna Tucci reviewed ZEB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | XYLT1 | Arianna Tucci reviewed XYLT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TRIM37 | Arianna Tucci reviewed TRIM37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TRAPPC9 | Arianna Tucci reviewed TRAPPC9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TMCO1 | Arianna Tucci reviewed TMCO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | STAMBP | Arianna Tucci reviewed STAMBP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KIAA1279 | Ellen McDonagh commented on KIAA1279 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PVRL1 | Ellen McDonagh marked PVRL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PVRL1 | Ellen McDonagh commented on PVRL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | NBN | Rebecca Foulger reviewed NBN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | METTL23 | Rebecca Foulger reviewed METTL23 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MED12 | Rebecca Foulger reviewed MED12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | LMX1B | Rebecca Foulger reviewed LMX1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KIF22 | Rebecca Foulger reviewed KIF22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KAT6B | Rebecca Foulger reviewed KAT6B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KANSL1 | Rebecca Foulger reviewed KANSL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MED13L | Rebecca Foulger reviewed MED13L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | NECTIN1 | Rebecca Foulger reviewed NECTIN1* | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MKS1 | Rebecca Foulger reviewed MKS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MAP3K7 | Rebecca Foulger reviewed MAP3K7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KIAA1279 | Rebecca Foulger reviewed KIAA1279 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | IMPAD1 | Rebecca Foulger reviewed IMPAD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ICK | Rebecca Foulger reviewed ICK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | HYLS1 | Rebecca Foulger reviewed HYLS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CHRNG | Louise Daugherty added CHRNG to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CHRNG | Louise Daugherty reviewed CHRNG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CHSY1 | Louise Daugherty classified CHSY1 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CHSY1 | Louise Daugherty added CHSY1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CHSY1 | Louise Daugherty reviewed CHSY1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FREM2 | Louise Daugherty classified FREM2 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FREM2 | Louise Daugherty edited their review of FREM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | EPG5 | Louise Daugherty classified EPG5 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GRIP1 | Louise Daugherty classified GRIP1 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GRIP1 | Louise Daugherty edited their review of GRIP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FANCL | Louise Daugherty classified FANCL as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FANCL | Louise Daugherty edited their review of FANCL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FAM111A | Louise Daugherty edited their review of FAM111A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | EPG5 | Louise Daugherty edited their review of EPG5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DNMT3B | Louise Daugherty edited their review of DNMT3B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DIS3L2 | Louise Daugherty edited their review of DIS3L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GNB1 | Louise Daugherty classified GNB1 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GNB1 | Louise Daugherty classified GNB1 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GNB1 | Louise Daugherty added GNB1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GNB1 | Louise Daugherty reviewed GNB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GMNN | Louise Daugherty classified GMNN as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GMNN | Louise Daugherty classified GMNN as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GMNN | Louise Daugherty added GMNN to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GMNN | Louise Daugherty reviewed GMNN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GLI3 | Louise Daugherty added GLI3 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GLI3 | Louise Daugherty reviewed GLI3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GJA1 | Louise Daugherty classified GJA1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KDM1A | Rebecca Foulger classified KDM1A as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KDM1A | Rebecca Foulger commented on KDM1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GJA1 | Louise Daugherty added GJA1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GJA1 | Louise Daugherty reviewed GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GATA3 | Louise Daugherty classified GATA3 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GATA3 | Louise Daugherty added GATA3 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GATA3 | Louise Daugherty reviewed GATA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FTO | Louise Daugherty added FTO to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FTO | Louise Daugherty reviewed FTO | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FOXP2 | Louise Daugherty added FOXP2 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FOXP2 | Louise Daugherty reviewed FOXP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FLNB | Louise Daugherty classified FLNB as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FGFR1 | Louise Daugherty added FGFR1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FGFR1 | Louise Daugherty reviewed FGFR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FREM2 | Louise Daugherty commented on FREM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FREM2 | Louise Daugherty added FREM2 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FREM2 | Louise Daugherty reviewed FREM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GRIP1 | Louise Daugherty commented on GRIP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GRIP1 | Louise Daugherty added GRIP1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GRIP1 | Louise Daugherty reviewed GRIP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FRAS1 | Louise Daugherty classified FRAS1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FRAS1 | Louise Daugherty added FRAS1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FRAS1 | Louise Daugherty reviewed FRAS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FANCL | Louise Daugherty classified FANCL as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FANCL | Louise Daugherty added FANCL to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FANCL | Louise Daugherty reviewed FANCL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FAM20C | Louise Daugherty classified FAM20C as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FAM20C | Louise Daugherty added FAM20C to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FAM20C | Louise Daugherty reviewed FAM20C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FAM111A | Louise Daugherty added FAM111A to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FAM111A | Louise Daugherty reviewed FAM111A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | EPG5 | Louise Daugherty edited their review of EPG5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | EPG5 | Louise Daugherty added EPG5 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | EPG5 | Louise Daugherty reviewed EPG5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DNMT3B | Louise Daugherty edited their review of DNMT3B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DNMT3B | Louise Daugherty added DNMT3B to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DNMT3B | Louise Daugherty reviewed DNMT3B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DIS3L2 | Louise Daugherty edited their review of DIS3L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DIS3L2 | Louise Daugherty added DIS3L2 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DIS3L2 | Louise Daugherty reviewed DIS3L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | B3GALTL | Ellen McDonagh commented on B3GALTL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TWIST2 | Helen Brittain reviewed TWIST2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ALG9 | Helen Brittain reviewed ALG9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DLX4 | Helen Brittain reviewed DLX4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DDX3X | Helen Brittain reviewed DDX3X | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SEC23A | Helen Brittain reviewed SEC23A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TBX15 | Helen Brittain reviewed TBX15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | RYR1 | Helen Brittain reviewed RYR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MED25 | Helen Brittain reviewed MED25 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | RBPJ | Helen Brittain reviewed RBPJ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | WDR60 | Helen Brittain reviewed WDR60 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | WDR35 | Helen Brittain reviewed WDR35 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | WDR19 | Helen Brittain reviewed WDR19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TTC21B | Helen Brittain reviewed TTC21B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | IFT52 | Helen Brittain reviewed IFT52 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | WDR34 | Helen Brittain reviewed WDR34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DDX59 | Helen Brittain reviewed DDX59 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MEOX1 | Helen Brittain reviewed MEOX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SON | Helen Brittain reviewed SON | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TELO2 | Helen Brittain reviewed TELO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MAPRE2 | Helen Brittain reviewed MAPRE2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TUBB | Helen Brittain reviewed TUBB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PHF8 | Helen Brittain reviewed PHF8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | EIF2S3 | Helen Brittain reviewed EIF2S3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KAT6A | Helen Brittain reviewed KAT6A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CTCF | Helen Brittain reviewed CTCF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | EBP | Helen Brittain reviewed EBP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MBTPS2 | Helen Brittain reviewed MBTPS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CHST14 | Helen Brittain reviewed CHST14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KCNJ2 | Helen Brittain reviewed KCNJ2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SEPT9 | Helen Brittain reviewed SEPT9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | NOTCH1 | Helen Brittain reviewed NOTCH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | EOGT | Helen Brittain reviewed EOGT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DOCK6 | Helen Brittain reviewed DOCK6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DLL4 | Helen Brittain reviewed DLL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ARHGAP31 | Helen Brittain reviewed ARHGAP31 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SIX5 | Helen Brittain reviewed SIX5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SIX1 | Helen Brittain reviewed SIX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | EYA1 | Helen Brittain reviewed EYA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PAX3 | Helen Brittain reviewed PAX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CTNND1 | Helen Brittain reviewed CTNND1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CHD1 | Helen Brittain reviewed CHD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GRHL3 | Helen Brittain reviewed GRHL3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | IRF6 | Helen Brittain reviewed IRF6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ZIC3 | Helen Brittain reviewed ZIC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | POLR1D | Helen Brittain reviewed POLR1D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | POLR1C | Helen Brittain reviewed POLR1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TCOF1 | Helen Brittain reviewed TCOF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL2A1 | Helen Brittain reviewed COL2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DHCR7 | Helen Brittain reviewed DHCR7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GPC3 | Helen Brittain reviewed GPC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | IFT140 | Helen Brittain reviewed IFT140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | NEK1 | Helen Brittain reviewed NEK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DYNC2H1 | Helen Brittain reviewed DYNC2H1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | IFT80 | Helen Brittain reviewed IFT80 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DYNC2LI1 | Helen Brittain reviewed DYNC2LI1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KIAA0586 | Helen Brittain reviewed KIAA0586 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | IFT172 | Helen Brittain reviewed IFT172 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ROR2 | Helen Brittain reviewed ROR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DVL1 | Helen Brittain reviewed DVL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | WNT5A | Helen Brittain reviewed WNT5A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ESCO2 | Helen Brittain reviewed ESCO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DHODH | Helen Brittain reviewed DHODH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | B3GLCT | Helen Brittain reviewed B3GLCT* | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FLNA | Helen Brittain reviewed FLNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | AMER1 | Helen Brittain reviewed AMER1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | C2CD3 | Helen Brittain reviewed C2CD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | C5orf42 | Helen Brittain reviewed C5orf42 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TCTN3 | Helen Brittain reviewed TCTN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | OFD1 | Helen Brittain reviewed OFD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SPECC1L | Helen Brittain reviewed SPECC1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MID1 | Helen Brittain reviewed MID1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | EFTUD2 | Helen Brittain reviewed EFTUD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | EDNRA | Helen Brittain reviewed EDNRA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FOXC2 | Helen Brittain reviewed FOXC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TGFB3 | Helen Brittain reviewed TGFB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SMAD3 | Helen Brittain reviewed SMAD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TGFBR1 | Helen Brittain reviewed TGFBR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SALL4 | Helen Brittain reviewed SALL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | EFNB1 | Helen Brittain reviewed EFNB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | HDAC8 | Helen Brittain reviewed HDAC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SMC3 | Helen Brittain reviewed SMC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SMC1A | Helen Brittain reviewed SMC1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | NIPBL | Helen Brittain reviewed NIPBL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CHD7 | Helen Brittain reviewed CHD7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SNRPB | Helen Brittain reviewed SNRPB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TGDS | Helen Brittain reviewed TGDS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SOX9 | Helen Brittain reviewed SOX9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TXNL4A | Helen Brittain reviewed TXNL4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TFAP2A | Helen Brittain reviewed TFAP2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ASXL1 | Helen Brittain reviewed ASXL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | CDKN1C | Helen Brittain reviewed CDKN1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PTCH1 | Helen Brittain reviewed PTCH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ACTG1 | Helen Brittain reviewed ACTG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ACTB | Helen Brittain reviewed ACTB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PIEZO2 | Helen Brittain reviewed PIEZO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FGFR2 | Helen Brittain reviewed FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TP63 | Helen Brittain reviewed TP63 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ZSWIM6 | Helen Brittain reviewed ZSWIM6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SF3B4 | Helen Brittain reviewed SF3B4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KIF7 | Helen Brittain reviewed KIF7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FGD1 | Helen Brittain reviewed FGD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COLEC10 | Helen Brittain reviewed COLEC10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COLEC11 | Helen Brittain reviewed COLEC11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MASP1 | Helen Brittain reviewed MASP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SLC26A2 | Ellen McDonagh classified SLC26A2 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SOX2 | Helen Brittain reviewed SOX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SMOC1 | Helen Brittain reviewed SMOC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | RPS19 | Helen Brittain reviewed RPS19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | RPS17 | Helen Brittain reviewed RPS17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | RBM8A | Helen Brittain reviewed RBM8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | RAI1 | Helen Brittain reviewed RAI1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SMS | Helen Brittain reviewed SMS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SMAD4 | Helen Brittain reviewed SMAD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SLC26A2 | Helen Brittain reviewed SLC26A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SKI | Helen Brittain reviewed SKI | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SIX3 | Helen Brittain reviewed SIX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SHH | Helen Brittain reviewed SHH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SCARF2 | Helen Brittain reviewed SCARF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SATB2 | Helen Brittain reviewed SATB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | RPS26 | Helen Brittain reviewed RPS26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | RPL5 | Helen Brittain reviewed RPL5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | RBM10 | Helen Brittain reviewed RBM10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | RPS28 | Helen Brittain reviewed RPS28 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | RARB | Helen Brittain reviewed RARB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SLC26A2 | Louise Daugherty classified SLC26A2 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | HOXA2 | Louise Daugherty classified HOXA2 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KDM1A | Louise Daugherty classified KDM1A as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | HOXA2 | Louise Daugherty edited their review of HOXA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | BMP4 | Louise Daugherty classified BMP4 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MEIS2 | Louise Daugherty classified MEIS2 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL9A2 | Louise Daugherty classified COL9A2 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FLNA | Louise Daugherty classified FLNA as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ANKRD11 | Louise Daugherty classified ANKRD11 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | NEDD4L | Louise Daugherty classified NEDD4L as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | NEDD4L | Louise Daugherty classified NEDD4L as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | NEDD4L | Louise Daugherty commented on NEDD4L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ARHGAP29 | Louise Daugherty classified ARHGAP29 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MEIS2 | Louise Daugherty classified MEIS2 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MEIS2 | Louise Daugherty commented on MEIS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KMT2D | Louise Daugherty classified KMT2D as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KMT2D | Louise Daugherty commented on KMT2D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KDM6A | Louise Daugherty classified KDM6A as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KDM6A | Louise Daugherty commented on KDM6A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ARHGAP29 | Louise Daugherty edited their review of ARHGAP29 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ARHGAP29 | Louise Daugherty commented on ARHGAP29 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ARHGAP29 | Louise Daugherty reviewed ARHGAP29 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SPECC1L | Louise Daugherty commented on SPECC1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SOX9 | Louise Daugherty commented on SOX9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FSHMD1A | Ellen McDonagh marked FSHMD1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SLC26A2 | Louise Daugherty commented on SLC26A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FLNA | Louise Daugherty classified FLNA as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MSX1 | Louise Daugherty classified MSX1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MSX1 | Louise Daugherty commented on MSX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KDM1A | Louise Daugherty classified KDM1A as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KDM1A | Louise Daugherty commented on KDM1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | HOXA2 | Louise Daugherty classified HOXA2 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | HOXA2 | Louise Daugherty commented on HOXA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GYPE | Louise Daugherty commented on GYPE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FSHMD1A | Louise Daugherty commented on FSHMD1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FLNB | Louise Daugherty classified FLNB as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FLNB | Louise Daugherty commented on FLNB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FLNA | Louise Daugherty commented on FLNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DLX4 | Louise Daugherty commented on DLX4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL9A2 | Louise Daugherty commented on COL9A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ANKRD11 | Louise Daugherty classified ANKRD11 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ANKRD11 | Louise Daugherty commented on ANKRD11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL9A1 | Louise Daugherty classified COL9A1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL9A1 | Louise Daugherty commented on COL9A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | BMP4 | Louise Daugherty edited their review of BMP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TP63 | Louise Daugherty commented on TP63 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FSHMD1A | Ellen McDonagh edited their review of FSHMD1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL2A1 | Louise Daugherty classified COL2A1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL2A1 | Louise Daugherty commented on COL2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL11A2 | Louise Daugherty classified COL11A2 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL11A2 | Louise Daugherty commented on COL11A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TBX22 | Louise Daugherty classified TBX22 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TBX22 | Louise Daugherty commented on TBX22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SUMO1 | Louise Daugherty classified SUMO1 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SUMO1 | Louise Daugherty commented on SUMO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SATB2 | Louise Daugherty classified SATB2 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SATB2 | Louise Daugherty commented on SATB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PVRL1 | Louise Daugherty classified PVRL1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | BMP4 | Louise Daugherty commented on BMP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL11A1 | Ellen McDonagh marked COL11A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL11A1 | Ellen McDonagh classified COL11A1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL11A1 | Ellen McDonagh commented on COL11A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | IRF6 | Ellen McDonagh marked IRF6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | IRF6 | Ellen McDonagh classified IRF6 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | IRF6 | Ellen McDonagh commented on IRF6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | IRF6 | Ellen McDonagh classified IRF6 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ARHGAP29 | Philip Stanier added ARHGAP29 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ARHGAP29 | Philip Stanier reviewed ARHGAP29 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SUMO1 | Philip Stanier reviewed SUMO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PVRL1 | Louise Daugherty commented on PVRL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FSHMD1A | Usha Kini reviewed FSHMD1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | NEDD4L | Usha Kini edited their review of NEDD4L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | UBB | Usha Kini reviewed UBB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SPECC1L | Usha Kini reviewed SPECC1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SLC26A2 | Usha Kini reviewed SLC26A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KDM1A | Usha Kini reviewed KDM1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | HOXA2 | Usha Kini reviewed HOXA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | GYPE | Usha Kini reviewed GYPE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FLNB | Usha Kini reviewed FLNB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FLNA | Usha Kini reviewed FLNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | DLX4 | Usha Kini reviewed DLX4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL9A2 | Usha Kini reviewed COL9A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL9A1 | Usha Kini reviewed COL9A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | ANKRD11 | Usha Kini reviewed ANKRD11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KDM6A | Usha Kini added KDM6A to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KDM6A | Usha Kini reviewed KDM6A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KMT2D | Usha Kini added KMT2D to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | KMT2D | Usha Kini reviewed KMT2D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL11A2 | Usha Kini reviewed COL11A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL11A1 | Usha Kini reviewed COL11A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | COL2A1 | Usha Kini reviewed COL2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MEIS2 | Usha Kini added MEIS2 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MEIS2 | Usha Kini reviewed MEIS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | NEDD4L | Usha Kini added NEDD4L to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | NEDD4L | Usha Kini reviewed NEDD4L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SUMO1 | Usha Kini reviewed SUMO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | BMP4 | Usha Kini reviewed BMP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SOX9 | Usha Kini reviewed SOX9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | MSX1 | Usha Kini reviewed MSX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TBX22 | Usha Kini reviewed TBX22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SATB2 | Usha Kini reviewed SATB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | PVRL1 | Usha Kini reviewed PVRL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TP63 | Usha Kini edited their review of TP63 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TP63 | Usha Kini reviewed TP63 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | IRF6 | Usha Kini reviewed IRF6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FSHMD1A | Ellen McDonagh commented on FSHMD1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | FSHMD1A | Ellen McDonagh classified FSHMD1A as grey | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SOX9 | Ellen McDonagh added SOX9 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | SOX9 | Ellen McDonagh reviewed SOX9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | TBX22 | Philip Stanier reviewed TBX22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting | Ellen McDonagh approved panel |