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| White matter disorders and cerebral calcification - narrow panel v2.9 | TMEM63A | Eleanor Williams Tag gene-checked tag was added to gene: TMEM63A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.9 | TMEM63A | Sarah Leigh Tag Q2_21_rating was removed from gene: TMEM63A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.9 | TMEM63A | Sarah Leigh reviewed gene: TMEM63A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.8 | TMEM63A |
Sarah Leigh Source NHS GMS was added to TMEM63A. Source Expert Review Green was added to TMEM63A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v1.62 | TMEM63A | Ivone Leong Tag Q2_21_rating tag was added to gene: TMEM63A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.62 | TMEM63A | Ivone Leong Publications for gene: TMEM63A were set to 31587869 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.61 | TMEM63A | Ivone Leong Classified gene: TMEM63A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.61 | TMEM63A |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 33597727. 2 additional cases. PMID: 33785861. 1 additional case. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. |
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| White matter disorders and cerebral calcification - narrow panel v1.61 | TMEM63A | Ivone Leong Gene: tmem63a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.61 | TMEM63A | Ivone Leong Classified gene: TMEM63A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.61 | TMEM63A |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 33597727. 2 additional cases. PMID: 33785861. 1 additional case. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. |
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| White matter disorders and cerebral calcification - narrow panel v1.61 | TMEM63A | Ivone Leong Gene: tmem63a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.60 | TMEM63A | Ivone Leong Phenotypes for gene: TMEM63A were changed from Leukodystrophy, hypomyelinating, 19, transient infantile, MIM# 618688 to Leukodystrophy, hypomyelinating, 19, transient infantile, OMIM:618688 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.14 | TMEM63A |
Zornitza Stark gene: TMEM63A was added gene: TMEM63A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM63A were set to 31587869 Phenotypes for gene: TMEM63A were set to Leukodystrophy, hypomyelinating, 19, transient infantile, MIM# 618688 Review for gene: TMEM63A was set to GREEN Added comment: 4 unrelated patients with infantile-onset leukodystrophy with heterozygous variants, three of which were de novo. Sources: Expert list |
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