| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Holoprosencephaly - NOT chromosomal v2.27 | KMT2D | Ivone Leong Tag Q3_21_rating was removed from gene: KMT2D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.27 | KMT2D | Sarah Leigh commented on gene: KMT2D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.26 | KMT2D |
Ivone Leong Source Expert Review Green was added to KMT2D. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Holoprosencephaly - NOT chromosomal v2.23 | RAD21 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). At least 3 unrelated individuals reported in literature with different heterozygous KMT2D variants and holoprosencephaly, which may be observed with or without overt features of CdLS. Sufficient to rate this gene as Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.20 | KMT2D | Arina Puzriakova Tag Q3_21_rating tag was added to gene: KMT2D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.20 | KMT2D | Arina Puzriakova Classified gene: KMT2D as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.20 | KMT2D | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). At least 3 unrelated individuals reported in literature with different heterozygous KMT2D variants and holoprosencephaly, which may be observed in the absence of overtly obvious features of Kabuki syndrome. Sufficient to rate this gene as Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.20 | KMT2D | Arina Puzriakova Gene: kmt2d has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.19 | KMT2D | Arina Puzriakova Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920 to Kabuki syndrome 1, OMIM:147920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.7 | KMT2D |
Zornitza Stark gene: KMT2D was added gene: KMT2D was added to Holoprosencephaly. Sources: Literature Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to 31846209; 31282990; 32773771 Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, MIM# 147920 Review for gene: KMT2D was set to GREEN gene: KMT2D was marked as current diagnostic Added comment: Three case reports of HPE in Kabuki syndrome. Association also observed by us internally, PMID 32773771, supplementary info. Sources: Literature |
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