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| Structural eye disease v3.50 | KDM6A |
Sarah Leigh Tag Skewed X-inactivation tag was added to gene: KDM6A. Tag Q4_23_promote_green tag was added to gene: KDM6A. Tag Q4_23_NHS_review tag was added to gene: KDM6A. |
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| Structural eye disease v3.50 | KDM6A | Sarah Leigh Publications for gene: KDM6A were set to 22197486; 29617172; 29300383; 23076834; 24664873; 36672956 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.49 | KDM6A |
Sarah Leigh changed review comment from: PMID: 36672956, 29300383, 24664873, 23076834 together report four KDM6A variants in four cases (3 male, 1 female), where the subject manifests ocular phenotypes, including: long palpebral fissures, nystagmus, bilateral coloboma, unilateral microphthalmia, nystagmus, sparse eyebrows, long eyelashes, ectropion of the lower eyelids, myopia, strabismus, arched eyebrows. PMID: 22197486 reports ocular features in three cases with microdeletions that included KDM6A, together with other genes.; to: PMID: 36672956, 29300383, 24664873, 23076834 together report four KDM6A variants in four cases (3 male, 1 female), where the subject manifests ocular phenotypes, including: long palpebral fissures, nystagmus, bilateral coloboma, unilateral microphthalmia, nystagmus, sparse eyebrows, long eyelashes, ectropion of the lower eyelids, myopia, strabismus, arched eyebrows. PMID: 22197486 reports ocular features in three cases with microdeletions that included KDM6A, together with other genes. Skewed X-inactivation has also been reported at this locus (PMID: 22197486, 23913813). |
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| Structural eye disease v3.49 | KDM6A | Sarah Leigh edited their review of gene: KDM6A: Added comment: PMID: 36672956, 29300383, 24664873, 23076834 together report four KDM6A variants in four cases (3 male, 1 female), where the subject manifests ocular phenotypes, including: long palpebral fissures, nystagmus, bilateral coloboma, unilateral microphthalmia, nystagmus, sparse eyebrows, long eyelashes, ectropion of the lower eyelids, myopia, strabismus, arched eyebrows. PMID: 22197486 reports ocular features in three cases with microdeletions that included KDM6A, together with other genes.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.49 | KDM6A | Sarah Leigh Classified gene: KDM6A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.49 | KDM6A | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.49 | KDM6A | Sarah Leigh Gene: kdm6a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.46 | KDM6A | Sarah Leigh Publications for gene: KDM6A were set to 29617172; 29300383; 36672956 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.45 | KDM6A | Sarah Leigh Phenotypes for gene: KDM6A were changed from Kabuki Syndrome 2, KABUK2, 300867 to Kabuki syndrome 2, OMIM:300867; Kabuki syndrome 2, MONDO:0010465 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.44 | KDM6A | Sarah Leigh Publications for gene: KDM6A were set to 29617172; 29300383 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.4 | KDM6A | Hannah Knight reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 36672956; Phenotypes: Kabuki syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.91 | KDM6A | Nicola Ragge reviewed gene: KDM6A: Rating: AMBER; Mode of pathogenicity: ; Publications: 29617172, 29300383; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.89 | KDM6A |
Ivone Leong Source NHS GMS was added to KDM6A. Publications for gene KDM6A were changed from to 29617172; 29300383 |
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| Structural eye disease v0.88 | KDM6A |
Ivone Leong Source Expert Review Amber was added to KDM6A. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Structural eye disease v0.60 | KDM6A | Mariya Moosajee reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Kabuki Syndrome 2, KABUK2; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.59 | KDM6A |
Ivone Leong gene: KDM6A was added gene: KDM6A was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: KDM6A were set to Kabuki Syndrome 2, KABUK2, 300867 |
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