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| Prepair 1000+ v1.52 | ALOXE3 | Zornitza Stark Marked gene: ALOXE3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.52 | ALOXE3 | Zornitza Stark Gene: aloxe3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.52 | ALOXE3 | Zornitza Stark Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive 3, 606545 (3) to Ichthyosis, congenital, autosomal recessive 3 (MIM#606545) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.51 | ALOXE3 | Zornitza Stark reviewed gene: ALOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 3 (MIM#606545); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.43 | ALOXE3 | Lucy Spencer edited their review of gene: ALOXE3: Added comment: Discussed 25/07/24- this can be a very severe form of ichthyosis, should be green and remain on this panel; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.43 | ALOXE3 |
Lucy Spencer changed review comment from: HGNC approved symbol/name: ALOXE3 Is the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says "Affected individuals have a relatively mild ichthyosis phenotype". Im not sure its severe enough to include here. Discussed 25/07/24- this can be a very severe form of ichthyosis, should be green and remain on this panel Treatments available: No specific treatment available (from babyscreen); to: HGNC approved symbol/name: ALOXE3 Is the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says "Affected individuals have a relatively mild ichthyosis phenotype". Im not sure its severe enough to include here. Treatments available: No specific treatment available (from babyscreen) |
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| Prepair 1000+ v1.43 | ALOXE3 |
Lucy Spencer changed review comment from: HGNC approved symbol/name: ALOXE3 Is the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says "Affected individuals have a relatively mild ichthyosis phenotype". Im not sure its severe enough to include here. Treatments available: No specific treatment available (from babyscreen); to: HGNC approved symbol/name: ALOXE3 Is the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says "Affected individuals have a relatively mild ichthyosis phenotype". Im not sure its severe enough to include here. Discussed 25/07/24- this can be a very severe form of ichthyosis, should be green and remain on this panel Treatments available: No specific treatment available (from babyscreen) |
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| Prepair 1000+ v1.43 | ALOXE3 |
Lucy Spencer changed review comment from: HGNC approved symbol/name: ALOXE3 Is the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says "Affected individuals have a relatively mild ichthyosis phenotype". Im not sure its severe enough to include here. Treatments available: No specific treatment available (from babyscreen) Known technical challenges? Y; to: HGNC approved symbol/name: ALOXE3 Is the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says "Affected individuals have a relatively mild ichthyosis phenotype". Im not sure its severe enough to include here. Treatments available: No specific treatment available (from babyscreen) |
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| Prepair 1000+ v1.9 | ALOXE3 | Lucy Spencer reviewed gene: ALOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 3 (MIM#606545); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | ALOXE3 |
Zornitza Stark gene: ALOXE3 was added gene: ALOXE3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545 (3) |
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