*Prioritization Criteria:*
Item
*Prioritization Criteria:*
boolean
C0549179 (UMLS CUI [1,1])
C1261322 (UMLS CUI [1,2])
C0243161 (UMLS CUI [1,3])
*Likely Mendelian cause:* The family has a highly penetrant severe and/or early onset phenotype, including those families with phenotypes matching a known but unsolved genetic condition. Families with multiple affected individuals, particularly cases that are consanguineous or large enough to obtain a significant LOD score through linkage, will be prioritized.
Item
*Likely Mendelian cause:* The family has a highly penetrant severe and/or early onset phenotype, including those families with phenotypes matching a known but unsolved genetic condition. Families with multiple affected individuals, particularly cases that are consanguineous or large enough to obtain a significant LOD score through linkage, will be prioritized.
boolean
C0683231 (UMLS CUI [1,1])
C0332148 (UMLS CUI [1,2])
C0015576 (UMLS CUI [1,3])
C0205250 (UMLS CUI [1,4])
C0524899 (UMLS CUI [1,5])
C0814120 (UMLS CUI [1,6])
C0031437 (UMLS CUI [1,7])
C5142998 (UMLS CUI [2,1])
C0086282 (UMLS CUI [2,2])
C0392760 (UMLS CUI [2,3])
C0683568 (UMLS CUI [2,4])
C4035618 (UMLS CUI [2,5])
C0023956 (UMLS CUI [2,6])
C0750502 (UMLS CUI [2,7])
C0549179 (UMLS CUI [2,8])
*Pre-screened for known genetic causes:* For diseases with known genes, sample has undergone either targeted testing for the major genetic contributors to the phenotype, or exome sequencing.
Item
*Pre-screened for known genetic causes:* For diseases with known genes, sample has undergone either targeted testing for the major genetic contributors to the phenotype, or exome sequencing.
boolean
C1527048 (UMLS CUI [1,1])
C0220908 (UMLS CUI [1,2])
C0728826 (UMLS CUI [1,3])
C0012634 (UMLS CUI [2,1])
C0205309 (UMLS CUI [2,2])
C0017337 (UMLS CUI [2,3])
C0370003 (UMLS CUI [2,4])
C3863350 (UMLS CUI [2,5])
C5575842 (UMLS CUI [2,6])
*Likely recessive or *de novo* dominant genetic cause:* Families with multiple affected siblings with unaffected parents, or with a known consanguineous relationship, will be favored over inherited dominant conditions. Probands with a strong suspicion of a *de novo* cause of disease (embryonic lethal/severe neonatal/pediatric disease) will also be prioritized if parental samples are available for trio analysis.
Item
*Likely recessive or *de novo* dominant genetic cause:* Families with multiple affected siblings with unaffected parents, or with a known consanguineous relationship, will be favored over inherited dominant conditions. Probands with a strong suspicion of a *de novo* cause of disease (embryonic lethal/severe neonatal/pediatric disease) will also be prioritized if parental samples are available for trio analysis.
boolean
C0332148 (UMLS CUI [1,1])
C0392755 (UMLS CUI [1,2])
C4476722 (UMLS CUI [1,3])
C5142998 (UMLS CUI [1,4])
C0037047 (UMLS CUI [1,5])
C0522476 (UMLS CUI [1,6])
C2986417 (UMLS CUI [1,7])
C0030551 (UMLS CUI [1,8])
C0683568 (UMLS CUI [1,9])
C1548789 (UMLS CUI [1,10])
C0242114 (UMLS CUI [2,1])
C1515568 (UMLS CUI [2,2])
C1314792 (UMLS CUI [2,3])
C0012634 (UMLS CUI [2,4])
C0013936 (UMLS CUI [2,5])
C2939425 (UMLS CUI [2,6])
C1521725 (UMLS CUI [2,7])
C0549179 (UMLS CUI [2,8])
C0030551 (UMLS CUI [2,9])
C0370003 (UMLS CUI [2,10])
C0936012 (UMLS CUI [2,11])
*Multiple cases:* We will favor submissions for which there are multiple independent cases with the same rare phenotype.
Item
*Multiple cases:* We will favor submissions for which there are multiple independent cases with the same rare phenotype.
boolean
C0868928 (UMLS CUI [1,1])
C0439064 (UMLS CUI [1,2])
C1548789 (UMLS CUI [1,3])
C1515022 (UMLS CUI [1,4])
C1853237 (UMLS CUI [1,5])
C0445247 (UMLS CUI [1,6])
C0522498 (UMLS CUI [1,7])
C0031437 (UMLS CUI [1,8])
*Detailed clinical data and additional samples are available:* We will favor cases obtained by clinicians in active contact with the patient, for whom detailed medical records are available, and where obtaining additional clinical specimens and data are feasible.
Item
*Detailed clinical data and additional samples are available:* We will favor cases obtained by clinicians in active contact with the patient, for whom detailed medical records are available, and where obtaining additional clinical specimens and data are feasible.
boolean
C0470187 (UMLS CUI [1,1])
C1516606 (UMLS CUI [1,2])
C1524062 (UMLS CUI [1,3])
C1548789 (UMLS CUI [2,1])
C1277697 (UMLS CUI [2,2])
C0871685 (UMLS CUI [2,3])
C0332158 (UMLS CUI [2,4])
C0030705 (UMLS CUI [2,5])
C0470187 (UMLS CUI [2,6])
C0025102 (UMLS CUI [2,7])
C1524062 (UMLS CUI [2,8])
C2347026 (UMLS CUI [2,9])
C0200345 (UMLS CUI [2,10])
C3846158 (UMLS CUI [2,11])
*DNA and consent are available from multiple family members:* We will prioritize cases where DNA samples from additional family members, especially parents and affected relatives, are available for study.
Item
*DNA and consent are available from multiple family members:* We will prioritize cases where DNA samples from additional family members, especially parents and affected relatives, are available for study.
boolean
C0470187 (UMLS CUI [1,1])
C0012854 (UMLS CUI [1,2])
C0021430 (UMLS CUI [1,3])
C4316741 (UMLS CUI [1,4])
C0549179 (UMLS CUI [2,1])
C0470187 (UMLS CUI [2,2])
C0012854 (UMLS CUI [2,3])
C1524062 (UMLS CUI [2,4])
C0086282 (UMLS CUI [2,5])
C0030551 (UMLS CUI [2,6])
C0080103 (UMLS CUI [2,7])
C0522476 (UMLS CUI [2,8])
*Samples from a disease-relevant tissue are available for RNA-seq:* We will prioritize cases when patient samples from a tissue known to be impacted by the disease phenotype, or a relevant cell line (such as differentiated iPS cells), are available for transcriptome analysis.
Item
*Samples from a disease-relevant tissue are available for RNA-seq:* We will prioritize cases when patient samples from a tissue known to be impacted by the disease phenotype, or a relevant cell line (such as differentiated iPS cells), are available for transcriptome analysis.
boolean
C2347026 (UMLS CUI [1,1])
C0040300 (UMLS CUI [1,2])
C0333125 (UMLS CUI [1,3])
C0012634 (UMLS CUI [1,4])
C0917793 (UMLS CUI [1,5])
C0549179 (UMLS CUI [2,1])
C2347026 (UMLS CUI [2,2])
C0040300 (UMLS CUI [2,3])
C0333125 (UMLS CUI [2,4])
C4086242 (UMLS CUI [2,5])
C0682523 (UMLS CUI [2,6])
C5380756 (UMLS CUI [2,7])
*Resources are available for detailed follow-up analyses*: We will favor phenotypes for which there is clinical and biological/laboratory expertise available for the phenotype, and a clear path to targeted testing of candidate genes in other patients with similar phenotypes through local or international collaborations.
Item
*Resources are available for detailed follow-up analyses*: We will favor phenotypes for which there is clinical and biological/laboratory expertise available for the phenotype, and a clear path to targeted testing of candidate genes in other patients with similar phenotypes through local or international collaborations.
boolean
C0470187 (UMLS CUI [1,1])
C0035201 (UMLS CUI [1,2])
C0016441 (UMLS CUI [1,3])
C1548789 (UMLS CUI [2,1])
C0031437 (UMLS CUI [2,2])
C0870520 (UMLS CUI [2,3])
C0205210 (UMLS CUI [2,4])
C0205460 (UMLS CUI [2,5])
C0039593 (UMLS CUI [2,6])
C3846158 (UMLS CUI [2,7])
C1332838 (UMLS CUI [2,8])
C0205276 (UMLS CUI [2,9])
C0392337 (UMLS CUI [2,10])
C0021785 (UMLS CUI [2,11])