| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Pigmentary skin disorders v1.43 | NDUFB11 |
Arina Puzriakova Tag Q4_21_expert_review was removed from gene: NDUFB11. Tag Q4_21_NHS_review was removed from gene: NDUFB11. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.42 | NDUFB11 | Arina Puzriakova commented on gene: NDUFB11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.26 | NDUFB11 |
Ivone Leong Tag Q4_21_expert_review tag was added to gene: NDUFB11. Tag Q4_21_NHS_review tag was added to gene: NDUFB11. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.26 | NDUFB11 | Ivone Leong Classified gene: NDUFB11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.26 | NDUFB11 | Ivone Leong Added comment: Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (probable). There is currently only 2 published cases of patients with Linear skin defects with multiple congenital anomalies 3. This gene is also associated with Histiocytoid cardiomyopathy and Lactic acidosis and sideroblastic anemia and patients with these diseases do not have signs of skin defects. Therefore, there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.26 | NDUFB11 | Ivone Leong Gene: ndufb11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.25 | NDUFB11 | Ivone Leong Phenotypes for gene: NDUFB11 were changed from Linear Skin Defects with Multiple Congenital Anomalies to Linear skin defects with multiple congenital anomalies 3, OMIM:300952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.16 | NDUFB11 |
Tom Cullup gene: NDUFB11 was added gene: NDUFB11 was added to Pigmentary skin disorders. Sources: Other Mode of inheritance for gene: NDUFB11 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: NDUFB11 were set to 33670341 Phenotypes for gene: NDUFB11 were set to Linear Skin Defects with Multiple Congenital Anomalies Penetrance for gene: NDUFB11 were set to unknown Review for gene: NDUFB11 was set to GREEN Added comment: XLD - lethal in males Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||