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| Mendeliome v1.4595 | TNK2 |
Sarah Milton changed review comment from: TNK2 encodes a cytosolic, nonreceptor tyrosine kinase that shows high expression in the brain. Summary of literature on gene disease association thus far: Mayer-Rokitansky-Kuster-Hauser syndrome Single patient reported in PMID: 31517310, no functional studies Neurodevelopmental disorder, MONDO:0700092 PMID: 39493104, 27977884, 23686771 - 4 families and 7 children affected with infantile onset epilepsy/spasms with associated regression. All had biallelic missense variants in TNK2. No functional studies thus far in regards to epilepsy phenotype. SLE predisposition 1 family with 2 affected individuals with SLE with compound heterozygous variants in TNK2. Supportive functional studies showing missense variants detected resulted in loss of function, somewhat supportive mouse study.; to: TNK2 encodes a cytosolic, nonreceptor tyrosine kinase that shows high expression in the brain. Summary of literature on gene disease association thus far: Mayer-Rokitansky-Kuster-Hauser syndrome Single patient reported in PMID: 31517310 with monoallelic TNK2 variant, no functional studies Neurodevelopmental disorder, MONDO:0700092 PMID: 39493104, 27977884, 23686771 - 4 families and 7 children affected with infantile onset epilepsy/spasms with associated regression. All had biallelic missense variants in TNK2. No functional studies thus far in regards to epilepsy phenotype. SLE predisposition PMID: 38883731 - 1 family with 2 affected individuals with SLE with compound heterozygous missense variants in TNK2. Supportive functional studies showing missense variants detected resulted in loss of function, somewhat supportive mouse study. |
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| Mendeliome v1.4595 | TNK2 | Sarah Milton reviewed gene: TNK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 39570652, 39493104, 31517310, 27977884, 23686771; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0017771, Lupus erythematosus MONDO:0004670; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6164 | KCNN2 |
Ain Roesley gene: KCNN2 was added gene: KCNN2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNN2 were set to 33242881 Phenotypes for gene: KCNN2 were set to neurodevelopmental movement disorders Penetrance for gene: KCNN2 were set to unknown Review for gene: KCNN2 was set to GREEN Added comment: - 11 probands all de novo except for 1 mother-daughter pair. - a mix of null and missense variants - 2/11 with microcephaly, 10/11 motor delay, 7/11 language delay (excluding 2 with regression), all with varying degrees of ID, 3/11 seizures, 7/11 movement disorder, 4/11 cerebellar ataxia, 6/11 MRI anomalies additional variants were noted in 2 patients: 1x cHet for variants in MED12L and 1x de novo TNK2 variant patch clamp functional studies were also done Sources: Literature |
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| Mendeliome v0.2686 | TNK2 | Zornitza Stark Mode of inheritance for gene: TNK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2685 | TNK2 | Zornitza Stark Marked gene: TNK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2685 | TNK2 | Zornitza Stark Gene: tnk2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2685 | TNK2 | Zornitza Stark Phenotypes for gene: TNK2 were changed from to late onset infantile epilepsy; Mayer-Rokitansky-Küster-Hauser syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2684 | TNK2 | Zornitza Stark Publications for gene: TNK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2683 | TNK2 | Zornitza Stark Mode of inheritance for gene: TNK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2682 | TNK2 | Zornitza Stark Classified gene: TNK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2682 | TNK2 | Zornitza Stark Gene: tnk2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2680 | TNK2 | Elena Savva reviewed gene: TNK2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 27977884, 23686771, 31517310; Phenotypes: late onset infantile epilepsy, Mayer-Rokitansky-Küster-Hauser syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | TNK2 |
Zornitza Stark gene: TNK2 was added gene: TNK2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TNK2 was set to Unknown |
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