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| Congenital fibrosis of the extraocular muscles v1.16 | MYF5 |
Ivone Leong Tag watchlist was removed from gene: MYF5. Tag Q4_23_promote_green tag was added to gene: MYF5. Tag Q4_23_NHS_review tag was added to gene: MYF5. |
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| Congenital fibrosis of the extraocular muscles v1.16 | MYF5 | Ivone Leong commented on gene: MYF5: There is now enough evidence for this gene to be promoted to Green status. This gene should be promoted to Green at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.16 | MYF5 | Ivone Leong Publications for gene: MYF5 were set to 29887215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.15 | MYF5 | Hannah Knight reviewed gene: MYF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 35186005; Phenotypes: Ophthalmoplegia, external, with rib and vertebral anomalies, 618155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.13 | COL25A1 |
Achchuthan Shanmugasundram changed review comment from: PMID:35077597 reported five patients from three unrelated families identified with biallelic variants in COL25A1 gene. Of these four patients from three families had ocular congenital cranial dysinnervation disorder phenotype. This gene has been associated with this phenotype in both OMIM and Gene2Phenotype (with 'strong' rating).; to: Comment on gene classification: There is sufficient evidence (five unrelated cases) for promoting this gene to GREEN at the next major review. PMID:35077597 reported five patients from three unrelated families identified with biallelic variants in COL25A1 gene. Of these four patients from three families had ocular congenital cranial dysinnervation disorder phenotype. This gene has been associated with this phenotype in both OMIM and Gene2Phenotype (with 'strong' rating). |
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| Congenital fibrosis of the extraocular muscles v1.13 | COL25A1 | Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: COL25A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.13 | COL25A1 | Achchuthan Shanmugasundram Publications for gene: COL25A1 were set to 25500261 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.12 | COL25A1 | Achchuthan Shanmugasundram reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35077597; Phenotypes: Fibrosis of extraocular muscles, congenital, 5, OMIM:616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.12 | MYF5 | Ivone Leong Tag watchlist tag was added to gene: MYF5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.12 | MYF5 |
Ivone Leong changed review comment from: PMID:29887215. 3 families and 5 patients. All patients have external ophthalmoplegia, 3/5 torticollis, 4/5 scoliosis, 0/5 hypotonia/weakness. After consulting the Genomics England Clinical Team it was decided to leave this gene as Amber on this panel.; to: PMID:29887215. 3 families and 5 patients. 2 families from the same village Turkey with the same variant (c.23_32delAGTTCTCACC) and 1 family from Yemen (c.283C>T). All patients have external ophthalmoplegia, 3/5 torticollis, 4/5 scoliosis, 0/5 hypotonia/weakness. After consulting the Genomics England Clinical Team it was decided that this gene is appropriate for the Congenital fibrosis of the extraocular muscles panel. This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). As 2 of the cases could be due to founder effect (Turkish families) and only 1 other case, there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating until more evidence is available. |
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| Congenital fibrosis of the extraocular muscles v1.12 | MYF5 | Ivone Leong Entity copied from Congenital myopathy v2.56 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.12 | MYF5 |
Ivone Leong gene: MYF5 was added gene: MYF5 was added to Congenital fibrosis of the extraocular muscles. Sources: Expert Review Amber,Expert list,Literature Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYF5 were set to 29887215 Phenotypes for gene: MYF5 were set to Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155 Mode of pathogenicity for gene: MYF5 was set to Other |
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| Congenital fibrosis of the extraocular muscles v1.11 | TUBB2B | Ivone Leong Publications for gene: TUBB2B were set to 23001566 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.10 | TUBB2B | Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with ortical dysplasia, complex, with other brain malformations 7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.10 | TUBB2B | Ivone Leong Phenotypes for gene: TUBB2B were changed from Cortical dysplasia, complex, with other brain malformations 7; Fibrosis of extraocular muscles, congenital to congenital fibrosis of extraocular muscles, MONDO:0007614 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.9 | GRHL2 | Ivone Leong Phenotypes for gene: GRHL2 were changed from Fibrosis of extraocular muscles, congenital to congenital fibrosis of extraocular muscles, MONDO:0007614 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.8 | COL25A1 | Ivone Leong Phenotypes for gene: COL25A1 were changed from Fibrosis of extraocular muscles, congenital, 5 616219; Fibrosis of extraocular muscles, congenital, 5 to Fibrosis of extraocular muscles, congenital, 5, OMIM:616219 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.7 | TUBB3 | Ivone Leong Phenotypes for gene: TUBB3 were changed from CFEOM3A; Fibrosis of extraocular muscles, congenital, 3A 600638 to Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.6 | PHOX2A | Ivone Leong Phenotypes for gene: PHOX2A were changed from Fibrosis of extraocular muscles, congenital, 2 602078; Fibrosis of extraocular muscles, congenital, 2 to Fibrosis of extraocular muscles, congenital, 2, OMIM:602078 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.5 | KIF21A | Ivone Leong Phenotypes for gene: KIF21A were changed from Congenital fibrosis of the extraocular muscles; Fibrosis of extraocular muscles, congenital, 1 135700; Fibrosis of extraocular muscles, congenital, 3B 135700 to Fibrosis of extraocular muscles, congenital, 1, OMIM:135700; Fibrosis of extraocular muscles, congenital, 3B, OMIM:135700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.2 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v0.10 |
Ivone Leong List of related panels changed from to R46 Panel types changed to GMS Rare Disease; GMS signed-off |
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| Congenital fibrosis of the extraocular muscles v0.8 | GRHL2 | Morag Shanks reviewed gene: GRHL2: Rating: RED; Mode of pathogenicity: ; Publications: 29110737; Phenotypes: Fibrosis of extraocular muscles, congenital; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v0.8 | COL25A1 | Morag Shanks reviewed gene: COL25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25500261; Phenotypes: Fibrosis of extraocular muscles, congenital, 5 616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v0.8 | TUBB2B | Morag Shanks reviewed gene: TUBB2B: Rating: RED; Mode of pathogenicity: ; Publications: 23001566; Phenotypes: Fibrosis of extraocular muscles, congenital; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v0.8 | TUBB3 | Morag Shanks reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20074521, 27428177; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v0.8 | PHOX2A | Morag Shanks reviewed gene: PHOX2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 11600883, 22311481, 14597037; Phenotypes: Fibrosis of extraocular muscles, congenital, 2 602078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v0.8 | KIF21A | Morag Shanks reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: 15223798, 15621876, 15621877, 18332320; Phenotypes: Fibrosis of extraocular muscles, congenital, 1 135700, Fibrosis of extraocular muscles, congenital, 3B 135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v0.7 | GRHL2 |
Ivone Leong gene: GRHL2 was added gene: GRHL2 was added to Congenital fibrosis of the extraocular muscles. Sources: Wessex and West Midlands GLH,Expert Review Red Mode of inheritance for gene: GRHL2 was set to Unknown Publications for gene: GRHL2 were set to 29110737 Phenotypes for gene: GRHL2 were set to Fibrosis of extraocular muscles, congenital |
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| Congenital fibrosis of the extraocular muscles v0.7 | COL25A1 |
Ivone Leong Source Wessex and West Midlands GLH was added to COL25A1. Source Expert Review Amber was added to COL25A1. Added phenotypes Fibrosis of extraocular muscles, congenital, 5 616219 for gene: COL25A1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Congenital fibrosis of the extraocular muscles v0.7 | TUBB2B |
Ivone Leong Source Wessex and West Midlands GLH was added to TUBB2B. Source Expert Review Red was added to TUBB2B. Added phenotypes Fibrosis of extraocular muscles, congenital for gene: TUBB2B Publications for gene TUBB2B were changed from 11425694; 23001566 to 23001566 |
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| Congenital fibrosis of the extraocular muscles v0.7 | TUBB3 |
Ivone Leong Source Wessex and West Midlands GLH was added to TUBB3. Source Expert Review Green was added to TUBB3. Added phenotypes Fibrosis of extraocular muscles, congenital, 3A 600638 for gene: TUBB3 Publications for gene TUBB3 were changed from to 20074521; 27428177 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Congenital fibrosis of the extraocular muscles v0.7 | PHOX2A |
Ivone Leong Source Wessex and West Midlands GLH was added to PHOX2A. Source Expert Review Green was added to PHOX2A. Mode of inheritance for gene PHOX2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fibrosis of extraocular muscles, congenital, 2 602078 for gene: PHOX2A Publications for gene PHOX2A were changed from 11600883 to 11600883; 14597037; 22311481 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Congenital fibrosis of the extraocular muscles v0.7 | KIF21A |
Ivone Leong Source Wessex and West Midlands GLH was added to KIF21A. Source Expert Review Green was added to KIF21A. Added phenotypes Fibrosis of extraocular muscles, congenital, 1 135700; Fibrosis of extraocular muscles, congenital, 3B 135700 for gene: KIF21A Publications for gene KIF21A were changed from 15621876 to 15621876; 15621877; 15223798; 18332320 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Congenital fibrosis of the extraocular muscles v0.6 | COL25A1 |
Anna de Burca gene: COL25A1 was added gene: COL25A1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL25A1 were set to 25500261 Phenotypes for gene: COL25A1 were set to Fibrosis of extraocular muscles, congenital, 5 Review for gene: COL25A1 was set to AMBER Added comment: PMID:25500261 reports a consanguineous family with a homozygous missense variant in COL25A1 and a second simplex compound heterozygote for a nonsense mutation and a 12.4 kb deletion spanning exons 4–10 of COL25A1. All affected individuals had features of congenital cranial dysinnervation disorder. Sources: Literature |
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| Congenital fibrosis of the extraocular muscles v0.5 | PHOX2A |
Anna de Burca gene: PHOX2A was added gene: PHOX2A was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: PHOX2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHOX2A were set to 11600883 Phenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital, 2 Review for gene: PHOX2A was set to AMBER Added comment: Gene also known as ARIX. Sources: Literature |
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| Congenital fibrosis of the extraocular muscles v0.4 | KIF21A |
Anna de Burca gene: KIF21A was added gene: KIF21A was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF21A were set to 15621876 Phenotypes for gene: KIF21A were set to Congenital fibrosis of the extraocular muscles Review for gene: KIF21A was set to GREEN Added comment: Heterozygous missense variants identified in multiple unrelated families of different ethnicities. Arginine 954 appears to represent a mutational hotspot, although other missense variants have also been reported. Sources: Literature |
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| Congenital fibrosis of the extraocular muscles v0.3 | TUBB2B |
Anna de Burca gene: TUBB2B was added gene: TUBB2B was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB2B were set to 11425694; 23001566 Phenotypes for gene: TUBB2B were set to Cortical dysplasia, complex, with other brain malformations 7 Review for gene: TUBB2B was set to AMBER Added comment: The association between TUBB2B and polymicrogyria is well documented but in addition PIMD:11425694 and 23001566 report the same two generation family where the mother and two daughters have polymicrogyria, intellectual disability and CFEOM. A missense variant in TUBB2B was present in the mother and two affected daughters and absent in the father and two unaffected siblings. In vitro functional studies showed altered microtubule dynamics. Sources: Literature |
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| Congenital fibrosis of the extraocular muscles v0.2 | TUBB3 |
Anna de Burca gene: TUBB3 was added gene: TUBB3 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TUBB3 were set to CFEOM3A Review for gene: TUBB3 was set to AMBER Added comment: Sources: Literature |
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| Congenital fibrosis of the extraocular muscles v0.0 |
Ellen McDonagh Added Panel Congenital fibrosis of the extraocular muscles Set panel types to: GMS Rare Disease |
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