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| Severe microcephaly v2.293 | CTU2 | Eleanor Williams Tag Q2_21_rating was removed from gene: CTU2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.292 | CTU2 | Sarah Leigh commented on gene: CTU2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.291 | CTU2 |
Eleanor Williams Source Expert Review Green was added to CTU2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.146 | CTU2 | Ivone Leong Tag Q2_21_rating tag was added to gene: CTU2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.146 | CTU2 | Ivone Leong Classified gene: CTU2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.146 | CTU2 |
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:26633546. Affected members of all 3 families have microcephaly, facial dysmorphia and unilateral renal agenesis. 2/3 families have ambiguous genitalia; however, only 1 family had karyotyping done, which showed normal male karyotype (46 XY). 2/3 had congenital heart disease. PMID: 27480277. Same variant as PMID:26633546. Affected individuals in this extended family have similar phenotype as PMID:26633546. Patient 1: in addition to microcephaly also has renal anomalies (small kidneys) and possible ambiguous genitalia with normal XY karyotype. Patient 2: cousin of patient 1. In addition to microcephaly did not have renal anomalies and nor ambiguous genitalia. Both patients have congenital heart disease. PMID: 31301155. 5 new cases, all with microcephaly. 4/5 with renal anomalies, 2/5 with ambiguous genitalia, 4/5 congenital heart disease. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. |
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| Severe microcephaly v2.146 | CTU2 | Ivone Leong Gene: ctu2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.139 | CTU2 | Ivone Leong Publications for gene: CTU2 were set to 26633546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.138 | CTU2 | Ivone Leong Phenotypes for gene: CTU2 were changed from Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MIM#618142) to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.20 | CTU2 |
Zornitza Stark gene: CTU2 was added gene: CTU2 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTU2 were set to 26633546 Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MIM#618142) Review for gene: CTU2 was set to GREEN gene: CTU2 was marked as current diagnostic Added comment: Dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL) as proposed by authors. PMID: 26633546 - 3 consanguineous families all with the same splice variant (NM_001012762.1:c.873G>A). Assumed to be founder variant - all had microcephaly but measurements were not provided PMID: 27480277 - 2 additional patients from an extended consanguineous family with the same variant as above - Patient 1: head circumference of -3.5SD at birth, not growing - Patient 2: head circumference of -4.3 SD PMID: 31301155 - 5 new patients with microcephaly (no measurements provided) - 3x PTVs and 1x missense Sources: Expert list |
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