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| Fetal anomalies v0.2729 | MED25 |
Krithika Murali gene: MED25 was added gene: MED25 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 25792360; 32816121; 32816121; 32324310 Phenotypes for gene: MED25 were set to multiple congenital anomalies; congenital heart defects; hypospadias, thin corpus callosum, cerebral ventricular dilatation; Basel-Vanagait-Smirin-Yosef syndrome - #616449; Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643 Review for gene: MED25 was set to GREEN Added comment: Multiple individuals reported - biallelic variants associated with severe syndromic neurodevelopmental disorder diagnosed from infancy. PMID 32324310 - report one patient with antenatal ultrasound demonstrating cleft lip and clenched hands. Additional features associated wtih this condition that may be diagnosed antenatally include cleft palate, cardiac septal defects, hypospadias, polymicrogyria, thin corpus callosum, microcephaly and cerebral ventricular dilatation. Sources: Literature |
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| Fetal anomalies v0.995 | NAGA | Seb Lunke Marked gene: NAGA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.995 | NAGA | Seb Lunke Gene: naga has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.990 | NAGA | Seb Lunke Phenotypes for gene: NAGA were changed from SCHINDLER DISEASE; KANZAKI DISEASE to Kanzaki disease (MIM# 609242); Schindler disease, type I and type II (MIM#609241); alpha-N-acetylgalactosaminidase deficiency (MONDO:0017779) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.989 | NAGA | Seb Lunke Publications for gene: NAGA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.988 | NAGA | Seb Lunke Classified gene: NAGA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.988 | NAGA | Seb Lunke Added comment: Comment on list classification: Only one description of microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.988 | NAGA | Seb Lunke Gene: naga has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.957 | NAGA | Daniel Flanagan reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11313741, 31468281, 15619430, 8782044; Phenotypes: Kanzaki disease (MIM# 609242), Schindler disease, type I and type II (MIM#609241), alpha-N-acetylgalactosaminidase deficiency (MONDO:0017779); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NAGA |
Zornitza Stark gene: NAGA was added gene: NAGA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGA were set to SCHINDLER DISEASE; KANZAKI DISEASE |
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