| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Renal tubulopathies v1.189 | GNA11 | Eleanor Williams Classified gene: GNA11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.189 | GNA11 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as > 3 cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.189 | GNA11 | Eleanor Williams Gene: gna11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.188 | GNA11 |
Eleanor Williams changed review comment from: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM. PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.** PMID: 24823460 - Li et al 2014 - in a large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature but no other member of the extended family has ever manifested symptoms of diabetes insipidus. They note that hypercalciuria is not a prominent clinical feature in the affected patients in this kindred (Table 1) or in the two unrelated patients with sporadic hypoparathyroidism due to GNA11 mutations (R181Q and Phe341Leu) recently described by Nesbit et al PMID: 23802516 - Nesbit et al 2013 - report a kindred with familial hypocalciuric hypercalcemia type 2 with an in-frame deletion of a conserved Gα11 isoleucine (Ile200del), and one of the nine unrelated patients with familial hypocalciuric hypercalcemia with a missense GNA11 mutation (Leu135Gln). Missense GNA11 mutations (Arg181Gln and Phe341Leu) were also detected in two unrelated patients with hypocalcemia. ; to: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM. PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. PMID: 24823460 - Li et al 2014 - in a large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature but no other member of the extended family has ever manifested symptoms of diabetes insipidus. They note that hypercalciuria is not a prominent clinical feature in the affected patients in this kindred or in the two unrelated patients with sporadic hypoparathyroidism due to GNA11 mutations (R181Q and Phe341Leu) recently described by Nesbit et al PMID: 23802516 - Nesbit et al 2013 - report a kindred with familial hypocalciuric hypercalcemia type 2 with an in-frame deletion of a conserved Gα11 isoleucine (Ile200del), and one of the nine unrelated patients with familial hypocalciuric hypercalcemia with a missense GNA11 mutation (Leu135Gln). Missense GNA11 mutations (Arg181Gln and Phe341Leu) were also detected in two unrelated patients with hypocalcemia. |
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| Renal tubulopathies v1.123 | GNA11 | Eleanor Williams commented on gene: GNA11: Will check with clinicians as to whether this gene is relevant to the panel as it doesn't seem to have a strong renal phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.123 | GNA11 | Eleanor Williams Publications for gene: GNA11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.122 | GNA11 | Eleanor Williams Mode of inheritance for gene: GNA11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.121 | GNA11 |
Eleanor Williams changed review comment from: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM. PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.** PMID: 24823460 - Li et al 2014 - in a large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature but no other member of the extended family has ever manifested symptoms of diabetes insipidus.; to: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM. PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.** PMID: 24823460 - Li et al 2014 - in a large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature but no other member of the extended family has ever manifested symptoms of diabetes insipidus. They note that hypercalciuria is not a prominent clinical feature in the affected patients in this kindred (Table 1) or in the two unrelated patients with sporadic hypoparathyroidism due to GNA11 mutations (R181Q and Phe341Leu) recently described by Nesbit et al PMID: 23802516 - Nesbit et al 2013 - report a kindred with familial hypocalciuric hypercalcemia type 2 with an in-frame deletion of a conserved Gα11 isoleucine (Ile200del), and one of the nine unrelated patients with familial hypocalciuric hypercalcemia with a missense GNA11 mutation (Leu135Gln). Missense GNA11 mutations (Arg181Gln and Phe341Leu) were also detected in two unrelated patients with hypocalcemia. |
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| Renal tubulopathies v1.121 | GNA11 |
Eleanor Williams changed review comment from: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM. PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.** PMID: 24823460 - Li et al 2014 - ina large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature but no other member of the extended family has ever manifested symptoms of diabetes insipidus.; to: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM. PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.** PMID: 24823460 - Li et al 2014 - in a large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature but no other member of the extended family has ever manifested symptoms of diabetes insipidus. |
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| Renal tubulopathies v1.121 | GNA11 |
Eleanor Williams changed review comment from: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM. PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.** PMID: 24823460 - Li et al 2014 - ina large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature.The basis for this episode of transient diabetes insipidus remains unknown, and no other member of the extended family has ever manifested symptoms of diabetes insipidus.; to: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM. PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.** PMID: 24823460 - Li et al 2014 - ina large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature but no other member of the extended family has ever manifested symptoms of diabetes insipidus. |
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| Renal tubulopathies v1.82 | GNA11 |
Eleanor Williams commented on gene: GNA11: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM. PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.** PMID: 24823460 - Li et al 2014 - ina large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature.The basis for this episode of transient diabetes insipidus remains unknown, and no other member of the extended family has ever manifested symptoms of diabetes insipidus. |
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| Renal tubulopathies v1.44 | GNA11 | Eleanor Williams Phenotypes for gene: GNA11 were changed from to Hypocalcemia, autosomal dominant 2 615361 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | GNA11 | Eleanor Williams reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypocalcemia, autosomal dominant 2 MIM 615361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | GNA11 |
Eleanor Williams gene: GNA11 was added gene: GNA11 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: GNA11 was set to |
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