| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| DDG2P v3.12 | FLNA | Achchuthan Shanmugasundram reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 23934111, 16596676, 8644737, 20301567, 11914408, 16299064, 11532987, 8290091, 9883725, 28498505, 10982965, 23032111, 17632775, 17431908, 23037936, 18854860, 15654694, 14988809, 15940695, 12612583, 20014127; Phenotypes: X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, OMIM:300048, MELNICK-NEEDLES SYNDROME, OMIM:309350, Otopalatodigital Syndrome, PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1, OMIM:300049, TERMINAL OSSEOUS DYSPLASIA, OMIM:300244, FRONTOMETAPHYSEAL DYSPLASIA, OMIM:305620, EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FLNA | Achchuthan Shanmugasundram Publications for gene: FLNA were updated from 16299064; 20014127; 11532987; 11914408; 8290091; 9883725; 14988809 to 23934111; 16596676; 8644737; 20301567; 11914408; 16299064; 11532987; 9883725; 28498505; 10982965; 20014127; 23032111; 17632775; 17431908; 23037936; 18854860; 15654694; 14988809; 15940695; 12612583; 8290091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.109 | FLNA | Rebecca Foulger commented on gene: FLNA: New gene:disorder association added to DDG2P, September 2019: PERIVENTRICULAR NODULAR HETEROTOPIA 1. Disease confidence rating in DDG2P: confirmed; DDG2P mutation consequence: loss of function. DDG2P mode of inheritance: x-linked dominant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.109 | FLNA | Rebecca Foulger Phenotypes for gene: FLNA were changed from FRONTOMETAPHYSEAL DYSPLASIA 305620; FG SYNDROME TYPE 2 300321; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048; MELNICK-NEEDLES SYNDROME 309350; Childhood Interstitial Lung Disease; EPILEPTIC ENCEPHALOPATHY; OTOPALATODIGITAL SYNDROME TYPE 1 311300; OTOPALATODIGITAL SYNDROME TYPE 2 304120; TERMINAL OSSEOUS DYSPLASIA 300244 to PERIVENTRICULAR NODULAR HETEROTOPIA 1 300049; FRONTOMETAPHYSEAL DYSPLASIA 305620; FG SYNDROME TYPE 2 300321; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048; MELNICK-NEEDLES SYNDROME 309350; Childhood Interstitial Lung Disease; EPILEPTIC ENCEPHALOPATHY; OTOPALATODIGITAL SYNDROME TYPE 1 311300; OTOPALATODIGITAL SYNDROME TYPE 2 304120; TERMINAL OSSEOUS DYSPLASIA 300244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.49 | FLNA | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is listed as hemizygous mosaic for Childhood Interstitial Lung Disease; x-linked dominant for EPILEPTIC ENCEPHALOPATHY; hemizygous for FG SYNDROME TYPE 2; x-linked dominant for MELNICK-NEEDLES SYNDROME; hemizygous for FRONTOMETAPHYSEAL DYSPLASIA; hemizygous for OTOPALATODIGITAL SYNDROME TYPE 1; hemizygous for OTOPALATODIGITAL SYNDROME TYPE 2; hemizygous for TERMINAL OSSEOUS DYSPLASIA; hemizygous for X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION. All disorders have a Confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.49 | FLNA | Rebecca Foulger Mode of inheritance for gene: FLNA 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.24 | FLNA | Rebecca Foulger commented on gene: FLNA: DDG2P update, curated January 8th 2019: MOP for RONTOMETAPHYSEAL DYSPLASIA changed from 'uncertain' to 'gain of function'.No MOP change curated in PanelApp, because mechanism is listed as loss of function for some (but not all) DD-G2P disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | FLNA | Rebecca Foulger Tag mosaicism tag was added to gene: FLNA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | FLNA | Rebecca Foulger commented on gene: FLNA: Mosaicism tag added: In DD-G2P download, hemizygous,mosaic MOI listed for Childhood Interstitial Lung Disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FLNA | Rebecca Foulger reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FLNA |
Rebecca Foulger Added phenotypes Childhood Interstitial Lung Disease for gene: FLNA Publications for gene FLNA were changed from 17632775 to 16299064; 20014127; 11532987; 11914408; 8290091; 9883725; 14988809 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger Added phenotypes FG SYNDROME TYPE 2 300321 for gene: FLNA Publications for gene FLNA were changed from 12612583 to 17632775 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger Added phenotypes FRONTOMETAPHYSEAL DYSPLASIA 305620 for gene: FLNA Publications for gene FLNA were changed from 12612583; 17431908 to 12612583 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger Added phenotypes OTOPALATODIGITAL SYNDROME TYPE 2 304120 for gene: FLNA Publications for gene FLNA were changed from 23037936; 8644737 to 12612583; 17431908 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger Added phenotypes X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048 for gene: FLNA Publications for gene FLNA were changed from 12612583 to 23037936; 8644737 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger Added phenotypes MELNICK-NEEDLES SYNDROME 309350 for gene: FLNA Publications for gene FLNA were changed from 10982965 to 12612583 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger Added phenotypes TERMINAL OSSEOUS DYSPLASIA 300244 for gene: FLNA Publications for gene FLNA were changed from 23934111 to 10982965 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: FLNA Publications for gene FLNA were changed from 15654694; 15940695; 12612583; 16596676 to 23934111 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger gene: FLNA was added gene: FLNA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLNA 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: FLNA were set to 15654694; 15940695; 12612583; 16596676 Phenotypes for gene: FLNA were set to OTOPALATODIGITAL SYNDROME TYPE 1 311300 |
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