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| Paediatric pseudo-obstruction syndrome v0.218 | FLNA | Achchuthan Shanmugasundram Publications for gene: FLNA were set to 17357080; 20871226; 23873601; 26059841; 31848803; 33729000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.216 | FLNA | Achchuthan Shanmugasundram commented on gene: FLNA: The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.36 | FLNA |
Achchuthan Shanmugasundram changed review comment from: Comment on classification of this gene: The rating for this gene should be GREEN as this gene has been implicated in intestinal pseudo-obstruction, as identified from five unrelated families. Four patients from family 1 reported with intestinal pseudo-obstruction in PMID:20871226 had diffuse abnormal layering of small intestinal smooth muscle (DAL). At least five males were affected in this family and they were all maternally-related. Both the mother and sister of patient 1 have normal intestinal motility and cranial magnetic resonance imaging, but the sister had a PDA and bifid uvula. Patient 5 from a second family was also reported with variant in FLNA gene (c.7021C>T; p.Gln2341Ter) and the parents also gave birth to a healthy female. Bot these cases suggest biallelic mode of inheritance in females. 2-bp deletion in exon 2 of the FLNA gene was found in the male proband and his second cousin and the variant was present in heterozygous state in the carrier females of the family (PMID:17357080). Similarly, a 4-bp deletion in exon 40 was identified in PMID:26059841, which results in translation of a mutant FLNA missing an internal region of 41 amino acids. In another family, three males and four females were identified with a novel no-stop FLNA mutation (c.7941_7942delCT, p.(*2648Serext*100)). This variant causes classical X-linked periventricular nodular heterotopia (XL-PNH) in females and an unusual multi-organ phenotype in males (PMID:23873601). This gene is associated to Intestinal pseudoobstruction, neuronal and Congenital short bowel syndrome in OMIM.; to: Comment on classification of this gene: The rating for this gene should be GREEN as this gene has been implicated in intestinal pseudo-obstruction, as identified from five unrelated families. Four patients from family 1 reported with intestinal pseudo-obstruction in PMID:20871226 had diffuse abnormal layering of small intestinal smooth muscle (DAL). At least five males were affected in this family and they were all maternally-related. Both the mother and sister of patient 1 have normal intestinal motility and cranial magnetic resonance imaging, but the sister had a PDA and bifid uvula. Patient 5 from a second family was also reported with variant in FLNA gene (c.7021C>T; p.Gln2341Ter) and the parents also gave birth to a healthy female. Bot these cases suggest biallelic mode of inheritance in females. 2-bp deletion in exon 2 of the FLNA gene was found in the male proband and his second cousin and the variant was present in heterozygous state in the carrier females of the family (PMID:17357080). Similarly, a 4-bp deletion in exon 40 was identified in PMID:26059841, which results in translation of a mutant FLNA missing an internal region of 41 amino acids. In another family, three males and four females were identified with a novel no-stop FLNA mutation (c.7941_7942delCT, p.(*2648Serext*100)). This variant causes classical X-linked periventricular nodular heterotopia (XL-PNH) in females and an unusual multi-organ phenotype in males (PMID:23873601). This gene is associated with relevant phenotypes in both OMIM and Gene2Phenotype. |
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| Paediatric pseudo-obstruction syndrome v0.36 | FLNA |
Achchuthan Shanmugasundram changed review comment from: Comment on classification of this gene: The rating for this gene should be GREEN as this gene has been implicated in intestinal pseudo-obstruction, as identified from five unrelated families. Four patients from family 1 reported with intestinal pseudo-obstruction in PMID:20871226 had diffuse abnormal layering of small intestinal smooth muscle (DAL). At least five males were affected in this family and they were all maternally-related. Both the mother and sister of patient 1 have normal intestinal motility and cranial magnetic resonance imaging, but the sister had a PDA and bifid uvula. Patient 5 from a second family was also reported with variant in FLNA gene (c.7021C>T; p.Gln2341Ter) and the parents also gave birth to a healthy female. Bot these cases suggest biallelic mode of inheritance in females. 2-bp deletion in exon 2 of the FLNA gene was found in the male proband and his second cousin and the variant was present in heterozygous state in the carrier females of the family (PMID:17357080). Similarly, a 4-bp deletion in exon 40 was identified in PMID:26059841, which results in translation of a mutant FLNA missing an internal region of 41 amino acids. In another family, three males and four females were identified with a novel no-stop FLNA mutation (c.7941_7942delCT, p.(*2648Serext*100)). This variant causes classical X-linked periventricular nodular heterotopia (XL-PNH) in females and an unusual multi-organ phenotype in males (PMID:23873601).; to: Comment on classification of this gene: The rating for this gene should be GREEN as this gene has been implicated in intestinal pseudo-obstruction, as identified from five unrelated families. Four patients from family 1 reported with intestinal pseudo-obstruction in PMID:20871226 had diffuse abnormal layering of small intestinal smooth muscle (DAL). At least five males were affected in this family and they were all maternally-related. Both the mother and sister of patient 1 have normal intestinal motility and cranial magnetic resonance imaging, but the sister had a PDA and bifid uvula. Patient 5 from a second family was also reported with variant in FLNA gene (c.7021C>T; p.Gln2341Ter) and the parents also gave birth to a healthy female. Bot these cases suggest biallelic mode of inheritance in females. 2-bp deletion in exon 2 of the FLNA gene was found in the male proband and his second cousin and the variant was present in heterozygous state in the carrier females of the family (PMID:17357080). Similarly, a 4-bp deletion in exon 40 was identified in PMID:26059841, which results in translation of a mutant FLNA missing an internal region of 41 amino acids. In another family, three males and four females were identified with a novel no-stop FLNA mutation (c.7941_7942delCT, p.(*2648Serext*100)). This variant causes classical X-linked periventricular nodular heterotopia (XL-PNH) in females and an unusual multi-organ phenotype in males (PMID:23873601). This gene is associated to Intestinal pseudoobstruction, neuronal and Congenital short bowel syndrome in OMIM. |
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| Paediatric pseudo-obstruction syndrome v0.34 | FLNA | Achchuthan Shanmugasundram Phenotypes for gene: FLNA were changed from to Congenital short bowel syndrome, OMIM:300048; Intestinal pseudoobstruction, neuronal, OMIM:300048 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.33 | FLNA | Achchuthan Shanmugasundram Publications for gene: FLNA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.32 | FLNA | Achchuthan Shanmugasundram Mode of inheritance for gene: FLNA was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.31 | FLNA | Achchuthan Shanmugasundram Classified gene: FLNA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.31 | FLNA | Achchuthan Shanmugasundram Gene: flna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.30 | FLNA | Achchuthan Shanmugasundram reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17357080, 20871226, 23873601, 26059841, 31848803, 33729000; Phenotypes: Congenital short bowel syndrome, OMIM:300048, Intestinal pseudoobstruction, neuronal, OMIM:300048; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | FLNA | Eleanor Williams reviewed gene: FLNA: Rating: ; Mode of pathogenicity: ; Publications: 33729000, 31848803; Phenotypes: Cytoskeletal abnormalities and potentially disrupts enteric-neuron structure and function. Seizures and progressive abdominal distension and obstruction; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | FLNA |
Eleanor Williams gene: FLNA was added gene: FLNA was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: FLNA was set to |
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