TM2D3

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber TM2D3 in Severe microcephaly Level 2: Neurology Version 9.63 Latest signed off version: v9.13 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurocardiorenal malformation syndrome, OMIM:621379 Tags Q1_26_promote_green
Amber TM2D3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.31 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Neurocardiorenal malformation syndrome, OMIM:621379 neurocardiorenal malformation syndrome, MONDO:0980704 Tags Q3_26_promote_green
Green TM2D3 in DDG2P Version 8.2 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MONDO:0700092 TM2D3-related neurodevelopmental disorder with microcephaly and congenital malformations
Amber TM2D3 in Intellectual disability Level 2: Developmental disorders Version 11.95 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurocardiorenal malformation syndrome, OMIM:621379 Tags Q1_26_promote_green