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| Mosaic skin disorders - deep sequencing v2.44 | IKBKG |
Arina Puzriakova changed review comment from: Comment on list classification: Incontinentia pigmenti (IP) is a X-linked dominant disorder associated with variants in the IKBKG gene. IP is mostly lethal in males in utero, and only very rare surviving male cases have somatic mosaicism. Phenotypically, cutaneous lesions manifest in Blaschkoid distribution. Overall 'R327 Mosaic skin disorders - deep sequencing' represents the most likely diagnostic route for these cases and therefore a Green rating on this panel would be appropriate.; to: Comment on list classification: Incontinentia pigmenti (IP) is a X-linked dominant disorder associated with variants in the IKBKG gene. IP is mostly lethal in males in utero, and only very rare surviving male cases have somatic mosaicism. Phenotypically, cutaneous lesions manifest in Blaschkoid distribution. Overall 'R327 Mosaic skin disorders - deep sequencing' represents a plausible route for referral and diagnosis for these cases and therefore a Green rating on this panel would be appropriate. |
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| Mosaic skin disorders - deep sequencing v2.44 | IKBKG | Arina Puzriakova Classified gene: IKBKG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.44 | IKBKG |
Arina Puzriakova Added comment: Comment on list classification: Incontinentia pigmenti (IP) is a X-linked dominant disorder associated with variants in the IKBKG gene. IP is mostly lethal in males in utero, and only very rare surviving male cases have somatic mosaicism. Phenotypically, cutaneous lesions manifest in Blaschkoid distribution. Overall 'R327 Mosaic skin disorders - deep sequencing' represents the most likely diagnostic route for these cases and therefore a Green rating on this panel would be appropriate. |
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| Mosaic skin disorders - deep sequencing v2.44 | IKBKG | Arina Puzriakova Gene: ikbkg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.43 | IKBKG |
Arina Puzriakova Tag somatic tag was added to gene: IKBKG. Tag Q2_24_promote_green tag was added to gene: IKBKG. |
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| Mosaic skin disorders - deep sequencing v2.43 | IKBKG | Arina Puzriakova Publications for gene: IKBKG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.42 | IKBKG | Arina Puzriakova Phenotypes for gene: IKBKG were changed from Ectodermal dysplasia and immunodeficiency 1, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Incontinentia pigmenti, 308300 to Incontinentia pigmenti, OMIM:308300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v1.5 | IKBKG | Zornitza Stark reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: 32908217, 29077987; Phenotypes: Incontinentia pigmenti, 308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.9 | IKBKG | Rebecca Foulger Classified gene: IKBKG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.9 | IKBKG | Rebecca Foulger Gene: ikbkg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.8 | IKBKG |
Rebecca Foulger gene: IKBKG was added gene: IKBKG was added to Mosaic skin disorders - deep sequencing. Sources: Other Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: IKBKG were set to Ectodermal dysplasia and immunodeficiency 1, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Incontinentia pigmenti, 308300 Added comment: Added IKBKG (NEMO) to the 'Mosaic skin disorders- deep sequencing' panel as suggested by Anna de Burca and Ellen Thomas, based on known mosaic skin phenotypes. Added IKBKG as an Amber gene awaiting clinical review at the first skin Webex call. Sources: Other |
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